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
MUC16	94025	broad.mit.edu	37	19	9089293	9089293	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:9089293G>A	ENST00000397910.4	-	1	2725	c.2522C>T	c.(2521-2523)cCa>cTa	p.P841L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	841	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P841L(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						AGAGACACTTGGGAGGCTGAG	0.468000													31	55					0	0	0.183431	0	0
SLIT2	9353	broad.mit.edu	37	4	20543244	20543244	+	Splice_Site	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:20543244T>C	ENST00000504154.1	+	20	2395		c.e20+2		SLIT2_ENST00000273739.5_Splice_Site|SLIT2_ENST00000503823.1_Splice_Site|SLIT2_ENST00000503837.1_Splice_Site	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)						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.?(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						GTGATGACGGTAAGAAATACT	0.408000													10	49					0	0	0.080935	0	0
PKP2	5318	broad.mit.edu	37	12	33031388	33031388	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:33031388C>A	ENST00000340811.4	-	3	534	c.426G>T	c.(424-426)agG>agT	p.R142S	PKP2_ENST00000070846.6_Missense_Mutation_p.R142S	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	142					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.R142I(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)					TCAGAGGATGCCTCAAGGACC	0.572000													44	179					8.94452e-30	1.69634e-29	0.139131	1	0
CA10	56934	broad.mit.edu	37	17	50008472	50008472	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:50008472C>T	ENST00000451037.2	-	3	1097	c.157G>A	c.(157-159)Gtg>Atg	p.V53M	CA10_ENST00000442502.2_Missense_Mutation_p.V53M|CA10_ENST00000340813.6_Missense_Mutation_p.V59M|CA10_ENST00000285273.4_Missense_Mutation_p.V53M|CA10_ENST00000570565.1_De_novo_Start_InFrame	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	53					brain development			p.V53M(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GCTGAGTTCACCAATCCCCAG	0.433000													14	78					0	0	0.146539	0	0
GBP4	115361	broad.mit.edu	37	1	89655791	89655791	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:89655791C>T	ENST00000355754.6	-	7	1224	c.1127G>A	c.(1126-1128)aGg>aAg	p.R376K		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	376						cytoplasm	GTP binding|GTPase activity	p.R376K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AATGGCTTCCCTCTCACAGGC	0.527000													4	34					0	0	0.150653	0	0
CPS1	1373	broad.mit.edu	37	2	211464127	211464127	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:211464127C>G	ENST00000233072.5	+	14	1587	c.1391C>G	c.(1390-1392)cCa>cGa	p.P464R	CPS1_ENST00000451903.2_Missense_Mutation_p.P13R|CPS1_ENST00000430249.2_Missense_Mutation_p.P470R	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	464					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.P464R(1)|p.P470R(1)		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)		CTGATGAACCCAAACATTGCA	0.398000													14	56					0	0	0.146539	0	0
TF	7018	broad.mit.edu	37	3	133494434	133494434	+	Silent	SNP	C	C	T	rs142894328		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:133494434C>T	ENST00000402696.3	+	15	2330	c.1845C>T	c.(1843-1845)tgC>tgT	p.C615C	TF_ENST00000264998.3_Silent_p.C488C	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	615	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	p.C615C(2)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AGGAAGCTTGCGTCCACAAGA	0.532000													5	65					0	0	0.217242	0	0
AHNAK	79026	broad.mit.edu	37	11	62287559	62287559	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62287559T>A	ENST00000378024.4	-	5	14604	c.14330A>T	c.(14329-14331)cAc>cTc	p.H4777L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4777					nervous system development	nucleus	protein binding	p.H4777L(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)				CATCTTCAGGTGCCAGTCTGG	0.537000													36	172					0	0	0.225048	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85518200	85518200	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:85518200G>T	ENST00000393217.2	+	17	3971	c.3910G>T	c.(3910-3912)Gca>Tca	p.A1304S		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1304								p.A1304S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AGACAGCAAGGCAAGCAGTAT	0.393000													28	124					8.58068e-18	1.56459e-17	0.125774	1	0
ZNF335	63925	broad.mit.edu	37	20	44596133	44596133	+	Splice_Site	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:44596133C>T	ENST00000322927.2	-	6	1055	c.955_splice	c.e6+1	p.E319_splice	ZNF335_ENST00000494955.1_5'UTR|ZNF335_ENST00000426788.1_Splice_Site_p.E164_splice	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E319K(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGTGGCCTACCCTCCAGGTCA	0.542000													9	41					0	0	0.069234	0	0
EML3	256364	broad.mit.edu	37	11	62378705	62378705	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62378705C>T	ENST00000394773.2	-	3	613	c.306G>A	c.(304-306)ctG>ctA	p.L102L	EML3_ENST00000529309.1_Silent_p.L102L|EML3_ENST00000494176.2_Silent_p.L74L|EML3_ENST00000278845.4_Silent_p.L103L	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	102						cytoplasm|microtubule	protein binding	p.L102L(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTCCATTGCTCAGGCCAGGGG	0.682000													4	18					0	0	0.150653	0	0
AHNAK	79026	broad.mit.edu	37	11	62301100	62301100	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62301100C>A	ENST00000378024.4	-	5	1063	c.789G>T	c.(787-789)aaG>aaT	p.K263N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	263					nervous system development	nucleus	protein binding	p.K263N(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)				AGTCCAAGCCCTTTGCATTGA	0.572000													16	60					2.31682e-05	2.93051e-05	0.132662	1	0
ABCA12	26154	broad.mit.edu	37	2	215914396	215914396	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:215914396G>C	ENST00000272895.7	-	6	866	c.647C>G	c.(646-648)aCc>aGc	p.T216S		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	216					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.T216S(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTCTAAAAGGGTCATGTTAGA	0.373000													8	32					0	0	0.047766	0	0
SLC5A8	160728	broad.mit.edu	37	12	101587480	101587480	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:101587480T>C	ENST00000536262.2	-	5	1173	c.615A>G	c.(613-615)atA>atG	p.I205M		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	205					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.I205M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCACAGCCTGTATAATCACGG	0.408000													20	83					0	0	0.219247	0	0
KRT5	3852	broad.mit.edu	37	12	52912811	52912811	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:52912811A>T	ENST00000252242.4	-	2	1079	c.689T>A	c.(688-690)cTg>cAg	p.L230Q		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	230	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	p.L230Q(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GATGCTGTCCAGCTGCCTCCT	0.587000													21	121					0	0	0.076483	0	0
MYH11	4629	broad.mit.edu	37	16	15808819	15808819	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:15808819C>T	ENST00000338282.6	-	40	5839	c.5733G>A	c.(5731-5733)acG>acA	p.T1911T	NDE1_ENST00000396354.1_Intron|MYH11_ENST00000300036.5_Silent_p.T1911T|MYH11_ENST00000396324.3_Silent_p.T1918T|MYH11_ENST00000576790.1_Silent_p.T1911T|MYH11_ENST00000452625.2_Silent_p.T1918T|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000342673.5_Intron	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1911					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.T1911T(2)|p.T1918T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGTTGCTCTCCGTGGCCTCAT	0.657000			T	CBFB	AML								34	115					0	0	0.225048	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45716578	45716578	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:45716578G>T	ENST00000413988.1	-	10	1019	c.979C>A	c.(979-981)Ctg>Atg	p.L327M	AC006126.3_ENST00000591569.1_Intron|EXOC3L2_ENST00000252482.3_Missense_Mutation_p.L327M	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	327								p.L327M(1)		endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GTGTTGCGCAGGCCACGGATG	0.657000													12	29					3.27435e-08	4.83404e-08	0.119110	1	0
TMEM132D	121256	broad.mit.edu	37	12	129566543	129566543	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:129566543C>A	ENST00000422113.2	-	7	2010	c.1684G>T	c.(1684-1686)Gag>Tag	p.E562*	TMEM132D_ENST00000389441.4_Nonsense_Mutation_p.E100*	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	562						integral to membrane		p.E562*(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCCCTCCGCTCATCATCCTCC	0.642000													10	49					4.68919e-08	6.88813e-08	0.069234	1	0
COL15A1	1306	broad.mit.edu	37	9	101806849	101806849	+	Splice_Site	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:101806849G>A	ENST00000375001.3	+	25	2997		c.e25-1			NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1						angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTGAATTGCAGGGCGAGAAGG	0.517000													6	52					0	0	0.029380	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252218	26252218	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:26252218G>A	ENST00000356350.2	+	1	340	c.340G>A	c.(340-342)Gag>Aag	p.E114K		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	114					nucleosome assembly	nucleosome|nucleus	DNA binding	p.E114K(2)|p.E114Q(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CGCCGTGTCCGAGGGCACTAA	0.537000													8	46					0	0	0.047766	0	0
AGRN	375790	broad.mit.edu	37	1	979000	979000	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:979000G>A	ENST00000379370.2	+	9	1736	c.1686G>A	c.(1684-1686)ttG>ttA	p.L562L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	562	Kazal-like 6.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.L562L(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)		GCGTGGCTTTGGCCCAGCCCG	0.682000													8	36					0	0	0.038147	0	0
XDH	7498	broad.mit.edu	37	2	31599964	31599964	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:31599964T>G	ENST00000379416.3	-	14	1430	c.1382A>C	c.(1381-1383)aAc>aCc	p.N461T		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	461					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.N461T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GATGGTTCTGTTGGCCATTCC	0.473000													11	62					0	0	0.093190	0	0
CFHR5	81494	broad.mit.edu	37	1	196965196	196965196	+	Missense_Mutation	SNP	T	T	A	rs143240067	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:196965196T>A	ENST00000367414.5	+	6	963	c.907T>A	c.(907-909)Tat>Aat	p.Y303N	CFHR5_ENST00000256785.4_Missense_Mutation_p.Y279N	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	279	Sushi 5.				complement activation, alternative pathway	extracellular region		p.Y279N(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CGAGTACGGTTATGTTCAGCC	0.353000													18	108					0	0	0.189662	0	0
ALK	238	broad.mit.edu	37	2	29450489	29450489	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:29450489C>A	ENST00000389048.3	-	17	3771	c.2865G>T	c.(2863-2865)ggG>ggT	p.G955G	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	955					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.G955G(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TGAAGGAAACCCCATCTTCCC	0.522000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				15	71					6.31663e-08	9.23248e-08	0.132662	1	0
SORCS1	114815	broad.mit.edu	37	10	108366972	108366972	+	Silent	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:108366972A>G	ENST00000263054.6	-	23	3124	c.3117T>C	c.(3115-3117)taT>taC	p.Y1039Y	SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000369698.1_Silent_p.Y574Y|SORCS1_ENST00000344440.6_Silent_p.Y1039Y	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1039						integral to membrane	neuropeptide receptor activity|protein binding	p.Y1039Y(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)		CTGGATCCTGATAGGGTAGGA	0.552000													7	50					0	0	0.047766	0	0
B3GNT1	11041	broad.mit.edu	37	11	66114503	66114503	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:66114503C>A	ENST00000311181.4	-	1	660	c.514G>T	c.(514-516)Gag>Tag	p.E172*		NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	172					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	p.E172*(1)|p.E172K(1)		breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						TCCCCCGGCTCCCGGGGGTCG	0.682000													4	15					0.00024832	0.000293815	0.150653	1	0
GAS7	8522	broad.mit.edu	37	17	9923093	9923093	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:9923093C>A	ENST00000396115.1	-	2	435		c.e2+1		GAS7_ENST00000437099.2_Splice_Site|GAS7_ENST00000585266.1_Splice_Site|GAS7_ENST00000432992.2_Splice_Site|GAS7_ENST00000578655.1_Splice_Site|GAS7_ENST00000579158.1_Splice_Site|GAS7_ENST00000540214.1_Splice_Site|GAS7_ENST00000323816.4_Splice_Site|GAS7_ENST00000542249.1_Splice_Site	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7						cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GCGGGACTCACCATTGGTGGT	0.607000			T	MLL	AML*								8	37					7.48243e-07	1.03974e-06	0.058154	1	0
SEMA3D	223117	broad.mit.edu	37	7	84642099	84642099	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:84642099G>T	ENST00000284136.6	-	15	1810	c.1768_splice	c.e15+1	p.D589_splice	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	589					cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.D589E(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGTACTTACTGTCTTCGATGT	0.383000													9	66					1.58986e-06	2.1641e-06	0.069234	1	0
MRPS30	10884	broad.mit.edu	37	5	44809482	44809482	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:44809482G>T	ENST00000507110.1	+	1	456	c.418G>T	c.(418-420)Gcg>Tcg	p.A140S		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	140					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	p.A140S(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					GCTGGACCTCGCGGCGCTGCG	0.692000													8	11					0.00307968	0.00335674	0.038147	1	0
TMEM225	338661	broad.mit.edu	37	11	123754007	123754007	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:123754007C>T	ENST00000375026.2	-	4	732	c.516G>A	c.(514-516)ctG>ctA	p.L172L		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	172						integral to membrane		p.L172L(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TATGGATGTTCAGGCAGGTAC	0.453000													8	38					0	0	0.038147	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283562	40283562	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:40283562T>A	ENST00000325157.6	-	2	441	c.191A>T	c.(190-192)cAt>cTt	p.H64L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	64	ENTH.							p.H64L(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GTTCTTCCCATGGTCATTGAG	0.418000													24	82					0	0	0.083992	0	0
BICC1	80114	broad.mit.edu	37	10	60558294	60558294	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:60558294C>T	ENST00000373886.3	+	11	1506	c.1502C>T	c.(1501-1503)cCa>cTa	p.P501L	BICC1_ENST00000263103.1_Missense_Mutation_p.P127L	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	501					multicellular organismal development		RNA binding	p.P501L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TGGGCACCCCCACTTGCTAAT	0.403000													9	72					0	0	0.047766	0	0
ABCA10	10349	broad.mit.edu	37	17	67149676	67149676	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:67149676G>A	ENST00000269081.4	-	34	4886	c.3977C>T	c.(3976-3978)gCt>gTt	p.A1326V	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1326	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.A1326V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GAGCTTAAGAGCTTCCACCAA	0.418000													18	86					0	0	0.189662	0	0
CRTC2	200186	broad.mit.edu	37	1	153924738	153924738	+	Splice_Site	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:153924738G>A	ENST00000368633.1	-	10	880	c.752_splice	c.e10-1	p.N251_splice	CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	251					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	p.N251N(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATGGAAAGATGCTAGGGGAAG	0.547000													15	23					0	0	0.160694	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074321	106074321	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:106074321C>T	ENST00000278071.2	-	3	1941	c.1489G>A	c.(1489-1491)Gcc>Acc	p.A497T	ITPRIP_ENST00000337478.1_Missense_Mutation_p.A497T|ITPRIP_ENST00000358187.2_Missense_Mutation_p.A497T	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	497						plasma membrane		p.A497T(1)		breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						AGGGGCTCGGCCCTGAGCACG	0.592000													5	65					0	0	0.029380	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35142703	35142703	+	RNA	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:35142703G>C	ENST00000436258.1	-	0	1811																											CAGCCAAAGAGCTGAAACGAA	0.358000													7	21					0	0	0.029380	0	0
FAM171B	165215	broad.mit.edu	37	2	187605168	187605168	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:187605168G>T	ENST00000304698.5	+	2	655	c.452G>T	c.(451-453)tGg>tTg	p.W151L		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	151						integral to membrane	DNA binding	p.W151L(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCTCTGCCTTGGAAAACCAGA	0.348000													3	25					0.014758	0.0155761	0.184627	1	0
CDK13	8621	broad.mit.edu	37	7	40037171	40037171	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:40037171G>T	ENST00000181839.4	+	3	2555	c.1950G>T	c.(1948-1950)ccG>ccT	p.P650P	CDK13_ENST00000340829.5_Silent_p.P650P|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	650					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.P650P(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CTGATTTACCGCTGCCCCCTG	0.408000													46	89					6.31075e-24	1.1861e-23	0.139131	1	0
IL12A	3592	broad.mit.edu	37	3	159706910	159706910	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:159706910G>T	ENST00000305579.2	+	1	374	c.67G>T	c.(67-69)Gcg>Tcg	p.A23S	CTD-2049J23.2_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Missense_Mutation_p.A23S|IL12A_ENST00000466512.1_Missense_Mutation_p.A23S	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	0					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity	p.A23S(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCTGCATCCAGCGGCTCGCCC	0.672000											OREG0015908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	12					3.59834e-05	4.50483e-05	0.217242	1	0
GABRR1	2569	broad.mit.edu	37	6	89888660	89888660	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:89888660C>A	ENST00000435811.1	-	9	1672	c.1218G>T	c.(1216-1218)atG>atT	p.M406I	GABRR1_ENST00000369451.3_Missense_Mutation_p.M336I|GABRR1_ENST00000454853.2_Missense_Mutation_p.M423I	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	423					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.M417I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GCTGCACCATCATCCTGTCGG	0.562000													20	58					8.04996e-18	1.46964e-17	0.234183	1	0
CDH18	1016	broad.mit.edu	37	5	19473826	19473826	+	Splice_Site	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:19473826C>G	ENST00000507958.1	-	15	2873		c.e15-1		CDH18_ENST00000510297.1_Splice_Site|CDH18_ENST00000506372.1_Splice_Site|CDH18_ENST00000382275.1_Splice_Site|CDH18_ENST00000274170.4_Splice_Site|CDH18_ENST00000502796.1_Splice_Site			Q13634	CAD18_HUMAN	cadherin 18, type 2						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.?(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACCACAATTGCTGAGGAAGAA	0.398000													22	104					0	0	0.234183	0	0
SPAG16	79582	broad.mit.edu	37	2	214204937	214204937	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:214204937G>T	ENST00000413312.1	+	5	740	c.494G>T	c.(493-495)cGa>cTa	p.R165L	SPAG16_ENST00000374309.3_Missense_Mutation_p.R102L|SPAG16_ENST00000272898.7_Missense_Mutation_p.R196L|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000331683.5_Missense_Mutation_p.R196L|SPAG16_ENST00000447990.1_Missense_Mutation_p.R196L			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	196					cilium assembly	cilium axoneme|flagellar axoneme		p.R196L(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GATTTTCATCGAATGCATCAT	0.284000													5	32					3.59834e-05	4.50483e-05	0.217242	1	0
KIF2B	84643	broad.mit.edu	37	17	51900641	51900641	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:51900641C>A	ENST00000268919.4	+	1	403	c.247C>A	c.(247-249)Ctg>Atg	p.L83M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	83					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.L83M(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAATCCAGCTCTGGACTCTGC	0.567000													26	104					1.13719e-10	1.83402e-10	0.134883	1	0
FAM179B	23116	broad.mit.edu	37	14	45432037	45432037	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:45432037G>C	ENST00000361462.2	+	1	596	c.413G>C	c.(412-414)cGg>cCg	p.R138P	FAM179B_ENST00000361577.3_Missense_Mutation_p.R138P|FAM179B_ENST00000382233.2_Missense_Mutation_p.R138P			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	138							binding	p.R138P(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCTTTGTATCGGGCACTGGGC	0.632000													27	77					0	0	0.125774	0	0
RHBG	57127	broad.mit.edu	37	1	156354617	156354617	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:156354617G>T	ENST00000368246.2	+	11	1392	c.1354G>T	c.(1354-1356)Gag>Tag	p.E452*	RHBG_ENST00000400992.2_3'UTR|RHBG_ENST00000494874.1_3'UTR|RHBG_ENST00000255013.3_3'UTR|RHBG_ENST00000368249.1_3'UTR			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	0					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.E452*(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GAGGGTGGAGGAGGCAGACAC	0.577000											OREG0013871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	16					3.59834e-05	4.50483e-05	0.217242	1	0
POLE	5426	broad.mit.edu	37	12	133214629	133214629	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:133214629G>A	ENST00000320574.5	-	41	5692	c.5649C>T	c.(5647-5649)gcC>gcT	p.A1883A	POLE_ENST00000535270.1_Silent_p.A1856A|POLE_ENST00000434528.3_5'UTR	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1883					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.A1883A(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CGTAAGCGATGGCATCTTCCA	0.562000								DNA polymerases (catalytic subunits)					13	33					0	0	0.119110	0	0
NBPF8	728841	broad.mit.edu	37	1	144220792	144220792	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:144220792G>T	ENST00000369373.5	+	2	59	c.59G>T	c.(58-60)aGc>aTc	p.S20I						neuroblastoma breakpoint family, member 8																		TCCAGGCTCAGCAGGGAGCTG	0.458000													17	226					6.94344e-10	1.09335e-09	0.175082	1	0
GRIN2A	2903	broad.mit.edu	37	16	9984903	9984903	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:9984903G>T	ENST00000396573.2	-	5	1371	c.1062C>A	c.(1060-1062)ggC>ggA	p.G354G	GRIN2A_ENST00000396575.2_Silent_p.G354G|GRIN2A_ENST00000330684.3_Silent_p.G354G|GRIN2A_ENST00000404927.2_Silent_p.G354G|GRIN2A_ENST00000535259.1_Silent_p.G197G|GRIN2A_ENST00000562109.1_Silent_p.G354G	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	354					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.G354G(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)	GCACCTGGTAGCCTTCCTCAG	0.463000													9	61					1.33987e-11	2.21449e-11	0.069234	1	0
HIVEP1	3096	broad.mit.edu	37	6	12161902	12161902	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:12161902G>A	ENST00000379388.2	+	8	7050	c.6718G>A	c.(6718-6720)Ggg>Agg	p.G2240R	HIVEP1_ENST00000541134.1_Missense_Mutation_p.G105R	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2240					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.G2240R(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTGCTTTTCTGGGGTACACAC	0.547000													12	15					0	0	0.093190	0	0
UBXN1	51035	broad.mit.edu	37	11	62446178	62446178	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62446178C>T	ENST00000294119.2	-	2	228	c.97G>A	c.(97-99)Gag>Aag	p.E33K	UBXN1_ENST00000301935.5_Missense_Mutation_p.E33K|UBXN1_ENST00000529640.1_Missense_Mutation_p.E33K|UBXN1_ENST00000524762.1_5'UTR	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	33	UBA.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	p.E33K(1)		endometrium(5)|lung(12)	17						ATCGCAGCCTCGATGCCCTGG	0.652000													4	11					0	0	0.150653	0	0
LCE2A	353139	broad.mit.edu	37	1	152671565	152671565	+	Missense_Mutation	SNP	G	G	C	rs61812673		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:152671565G>C	ENST00000368779.1	+	2	239	c.188G>C	c.(187-189)gGg>gCg	p.G63A		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	63	Cys-rich.				keratinization			p.G63A(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCAGCTCTGGGGGTGGCGGC	0.682000													17	73					0	0	0.160694	0	0
VEGFC	7424	broad.mit.edu	37	4	177648957	177648957	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:177648957G>T	ENST00000280193.2	-	3	942	c.527C>A	c.(526-528)aCc>aAc	p.T176N	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	176					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.T176N(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GCTCGTGCTGGTGTTCATGCA	0.512000													8	20					0.000274275	0.000320388	0.047766	1	0
SNX31	169166	broad.mit.edu	37	8	101589249	101589249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:101589249G>A	ENST00000311812.2	-	13	1375	c.1225C>T	c.(1225-1227)Cag>Tag	p.Q409*	SNX31_ENST00000428383.2_Nonsense_Mutation_p.Q310*	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	409					cell communication|protein transport		phosphatidylinositol binding	p.Q409*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TCACAGACCTGGCTTTGTTGA	0.333000													23	85					0	0	0.076483	0	0
GOLGA3	2802	broad.mit.edu	37	12	133373168	133373168	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:133373168C>A	ENST00000204726.3	-	10	2615	c.2057G>T	c.(2056-2058)aGg>aTg	p.R686M	GOLGA3_ENST00000450791.2_Missense_Mutation_p.R686M|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R686M|GOLGA3_ENST00000545875.1_Missense_Mutation_p.R686M|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R686M	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	686	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	p.R686M(2)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCCGCCATCCTCTGCAGCCG	0.622000													28	112					5.45727e-16	9.75653e-16	0.134883	1	0
PRDM4	11108	broad.mit.edu	37	12	108145650	108145650	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:108145650G>A	ENST00000228437.5	-	5	1127	c.668C>T	c.(667-669)tCc>tTc	p.S223F	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	223					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.S223F(1)		biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TGGGATTTGGGAATGCTCGCC	0.507000													6	38					0	0	0.217242	0	0
HP1BP3	50809	broad.mit.edu	37	1	21071429	21071429	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:21071429T>A	ENST00000375003.2	-	9	2567	c.1067A>T	c.(1066-1068)aAg>aTg	p.K356M	HP1BP3_ENST00000312239.5_Missense_Mutation_p.K508M			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	508	H15 3.				nucleosome assembly	nucleosome|nucleus	DNA binding	p.K508M(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GGGTCTGGTCTTCTTGGCAGG	0.542000													12	54					0	0	0.080935	0	0
RAB5A	5868	broad.mit.edu	37	3	20017161	20017161	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:20017161G>C	ENST00000273047.4	+	3	768	c.232G>C	c.(232-234)Ggt>Cgt	p.G78R	RAB5A_ENST00000422242.1_Missense_Mutation_p.G64R	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	78					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity	p.G78R(1)		lung(1)|urinary_tract(1)	2						GGATACAGCTGGTCAAGAACG	0.383000													17	33					0	0	0.146539	0	0
COMMD7	149951	broad.mit.edu	37	20	31294522	31294522	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:31294522C>T	ENST00000446419.1	-	4	895	c.279G>A	c.(277-279)gcG>gcA	p.A93A	COMMD7_ENST00000278980.6_Silent_p.A94A	NM_001099339.1	NP_001092809.1	Q86VX2	COMD7_HUMAN	COMM domain containing 7	94					negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway		NF-kappaB binding	p.A94A(1)		breast(1)|endometrium(1)|lung(3)	5						TTATGAAATCCGCCTGGACCT	0.473000													8	28					0	0	0.047766	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541199	133541199	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:133541199C>A	ENST00000409261.1	-	14	3558	c.3185G>T	c.(3184-3186)gGa>gTa	p.G1062V	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1062V|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1062							protein binding	p.G1062V(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGTCTGTAATCCTATGTCCCT	0.512000													13	65					4.36969e-10	6.90298e-10	0.105934	1	0
ANKRD42	338699	broad.mit.edu	37	11	82938914	82938914	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:82938914G>T	ENST00000260047.6	+	7	1705	c.910_splice	c.e7+1	p.A304_splice	ANKRD42_ENST00000533342.1_Splice_Site_p.A305_splice|ANKRD42_ENST00000531895.1_Splice_Site_p.A305_splice|ANKRD42_ENST00000393392.2_Splice_Site_p.A277_splice			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	277								p.A277S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TATGCATAAAGGTGAGTTATG	0.353000													12	54					6.31663e-08	9.23248e-08	0.132662	1	0
KMT2A	4297	broad.mit.edu	37	11	118363824	118363824	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:118363824G>C	ENST00000534358.1	+	16	5080	c.5057G>C	c.(5056-5058)cGc>cCc	p.R1686P	KMT2A_ENST00000354520.4_Missense_Mutation_p.R1645P|KMT2A_ENST00000389506.5_Missense_Mutation_p.R1683P	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A									p.R1686P(1)|p.R1683P(1)									ATACCTTCCCGCAGCTCCCCC	0.483000													14	45					0	0	0.132662	0	0
SSPO	23145	broad.mit.edu	37	7	149521636	149521636	+	RNA	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:149521636C>T	ENST00000378016.2	+	0	13715							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCTGGCTTCAGAGCAGCAC	0.711000													8	24					0	0	0.047766	0	0
PLSCR4	57088	broad.mit.edu	37	3	145914458	145914458	+	Silent	SNP	T	T	C	rs141714822		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:145914458T>C	ENST00000354952.2	-	7	987	c.747A>G	c.(745-747)ccA>ccG	p.P249P	PLSCR4_ENST00000446574.2_Silent_p.P249P|PLSCR4_ENST00000433593.2_Silent_p.P144P|PLSCR4_ENST00000493382.1_Silent_p.P249P|PLSCR4_ENST00000383083.2_Silent_p.P159P	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	249					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	p.P249P(1)		kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						AGGTTGAGCATGGCCCACGAA	0.418000													19	103					0	0	0.083992	0	0
F13B	2165	broad.mit.edu	37	1	197024935	197024935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:197024935C>A	ENST00000367412.1	-	8	1307	c.1264G>T	c.(1264-1266)Gaa>Taa	p.E422*		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	422	Sushi 7.				blood coagulation	extracellular region		p.E422*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CATCTATATTCCACTGAGGAT	0.403000													9	52					0.0477658	0.0494873	0.047766	1	0
TRAF3IP3	80342	broad.mit.edu	37	1	209951495	209951495	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:209951495T>A	ENST00000367024.1	+	13	1745	c.1229T>A	c.(1228-1230)gTg>gAg	p.V410E	TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.V390E|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.V146E|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.V390E|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.V410E|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.V390E|TRAF3IP3_ENST00000477431.1_Intron			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	410						integral to membrane	protein binding	p.V390E(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CTCACCCTGGTGACCAGAGTA	0.463000													5	34					0	0	0.184627	0	0
MBD4	8930	broad.mit.edu	37	3	129151986	129151986	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:129151986G>C	ENST00000429544.2	-	6	1693	c.1498C>G	c.(1498-1500)Ctt>Gtt	p.L500V	MBD4_ENST00000249910.1_Missense_Mutation_p.L506V|MBD4_ENST00000393278.2_Missense_Mutation_p.L188V|MBD4_ENST00000507208.1_Missense_Mutation_p.L506V|MBD4_ENST00000503197.1_Missense_Mutation_p.L506V	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	506					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	p.L506V(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TAGAGACCAAGAGGTTTAAGA	0.408000								Base excision repair (BER), DNA glycosylases					13	65					0	0	0.093190	0	0
GPR112	139378	broad.mit.edu	37	X	135429356	135429356	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:135429356C>A	ENST00000394143.1	+	6	3782	c.3491C>A	c.(3490-3492)aCt>aAt	p.T1164N	GPR112_ENST00000394141.1_Missense_Mutation_p.T959N|GPR112_ENST00000370652.1_Missense_Mutation_p.T1164N|GPR112_ENST00000412101.1_Missense_Mutation_p.T959N|GPR112_ENST00000287534.4_Missense_Mutation_p.T1101N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1164					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T1164K(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)					GTGATCTCAACTACGTCTACA	0.468000													26	91					1.06801e-11	1.76916e-11	0.144211	1	0
OR5R1	219479	broad.mit.edu	37	11	56185388	56185388	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:56185388G>A	ENST00000312253.1	-	1	320	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F107F(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)					CAGTGATCATGAAGGTGAGAA	0.458000													6	25					0	0	0.217242	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939307	2939307	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:2939307A>T	ENST00000378404.2	+	1	1262	c.1057A>T	c.(1057-1059)Agc>Tgc	p.S353C		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	353						cytoplasm|cytoskeleton		p.S353C(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)		CTCTCTGAGTAGCTTCAAGCA	0.602000													26	91					0	0	0.108266	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994813	45994813	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr21:45994813G>T	ENST00000400374.3	+	1	1208	c.1178G>T	c.(1177-1179)cGc>cTc	p.R393L	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	393	36 X 5 AA repeats of C-C-X(3).					keratin filament		p.R393L(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						AGCTGCTGCCGCCCAGCCTCC	0.711000													6	28					0.0477658	0.0494873	0.047766	1	0
ZNF215	7762	broad.mit.edu	37	11	6953714	6953714	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:6953714G>T	ENST00000278319.5	+	3	799	c.211G>T	c.(211-213)Gag>Tag	p.E71*	ZNF215_ENST00000414517.2_Nonsense_Mutation_p.E71*|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Nonsense_Mutation_p.E71*	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	71	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E71*(1)		NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CCAACTCTGGGAGCTCTGTCT	0.478000													7	36					8.12818e-05	9.85601e-05	0.029380	1	0
PNPLA6	10908	broad.mit.edu	37	19	7606248	7606248	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:7606248G>T	ENST00000221249.6	+	11	1247	c.816G>T	c.(814-816)atG>atT	p.M272I	PNPLA6_ENST00000545201.2_Missense_Mutation_p.M272I|PNPLA6_ENST00000600737.1_Missense_Mutation_p.M311I|PNPLA6_ENST00000450331.3_Missense_Mutation_p.M272I|PNPLA6_ENST00000414982.3_Missense_Mutation_p.M320I	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	311					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	p.M272I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGATCATCATGGTGCGGCTGC	0.642000													4	22					0.00909568	0.0096906	0.150653	1	0
SRPK1	6732	broad.mit.edu	37	6	35810348	35810348	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:35810348C>G	ENST00000373825.2	-	14	1939	c.1654G>C	c.(1654-1656)Gaa>Caa	p.E552Q	SRPK1_ENST00000373822.1_Missense_Mutation_p.E444Q|SRPK1_ENST00000423325.2_Missense_Mutation_p.E536Q			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	552	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.E551Q(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GAATGAGGTTCAAACAAATAG	0.418000													5	15					0	0	0.217242	0	0
ZFAT	57623	broad.mit.edu	37	8	135613823	135613823	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:135613823G>A	ENST00000520727.1	-	7	2402	c.2103C>T	c.(2101-2103)acC>acT	p.T701T	ZFAT_ENST00000377838.3_Silent_p.T713T|ZFAT_ENST00000520214.1_Silent_p.T701T|ZFAT_ENST00000523399.1_Silent_p.T651T|ZFAT_ENST00000520356.1_Silent_p.T701T|ZFAT_ENST00000429442.2_Silent_p.T701T	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	713					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	p.T713T(1)|p.T701T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TCATGAAAGCGGTGATGCCTG	0.537000													22	56					0	0	0.076483	0	0
NRXN2	9379	broad.mit.edu	37	11	64419599	64419599	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:64419599C>T	ENST00000265459.6	-	13	2905	c.2444G>A	c.(2443-2445)gGg>gAg	p.G815E	AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377551.1_Missense_Mutation_p.G815E|NRXN2_ENST00000377559.3_Missense_Mutation_p.G775E|NRXN2_ENST00000409571.1_Missense_Mutation_p.G808E	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	815	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding	p.G815E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GAGCTTGTGCCCCGCAAACAG	0.572000													6	15					0	0	0.217242	0	0
IFNA6	3443	broad.mit.edu	37	9	21350617	21350617	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:21350617G>T	ENST00000380210.1	-	1	760	c.270C>A	c.(268-270)ctC>ctA	p.L90L		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	90					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.L90L(1)		large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TTGTGCTGAAGAGGTTGAAGG	0.483000													18	53					1.01871e-10	1.64656e-10	0.204396	1	0
OTOGL	283310	broad.mit.edu	37	12	80704502	80704502	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:80704502A>C	ENST00000458043.2	+	29	3424	c.3418A>C	c.(3418-3420)Aat>Cat	p.N1140H	OTOGL_ENST00000547103.1_Missense_Mutation_p.N1140H	NM_173591.3	NP_775862.3			otogelin-like									p.N1140H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTCTTGTCGCAATGTGGTAAA	0.368000													3	20					0	0	0.150653	0	0
SLC45A1	50651	broad.mit.edu	37	1	8397904	8397904	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:8397904C>T	ENST00000471889.1	+	7	2011	c.1626C>T	c.(1624-1626)ctC>ctT	p.L542L	SLC45A1_ENST00000289877.8_Silent_p.L542L|SLC45A1_ENST00000377479.2_Silent_p.L576L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	542					carbohydrate transport	integral to membrane	symporter activity	p.L542L(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGTTGCTCTTCTACACAG	0.557000													13	90					0	0	0.132662	0	0
TRIM42	287015	broad.mit.edu	37	3	140401413	140401413	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:140401413C>A	ENST00000286349.3	+	2	642	c.451C>A	c.(451-453)Cgg>Agg	p.R151R		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	151						intracellular	zinc ion binding	p.R151R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATGTGCAGCCGGCTGCGCCT	0.592000													50	47					4.10826e-27	7.77124e-27	0.139131	1	0
PLCG2	5336	broad.mit.edu	37	16	81960739	81960739	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:81960739G>A	ENST00000359376.3	+	23	2684	c.2470G>A	c.(2470-2472)Gtc>Atc	p.V824I		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	824	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.V824I(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATCCAACTACGTCGAGGACAT	0.522000													25	93					0	0	0.116897	0	0
CORO2B	10391	broad.mit.edu	37	15	69011535	69011535	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:69011535C>A	ENST00000543950.1	+	10	1472	c.1118C>A	c.(1117-1119)gCa>gAa	p.A373E	CORO2B_ENST00000566799.1_Missense_Mutation_p.A378E|CORO2B_ENST00000261861.5_Missense_Mutation_p.A373E|CORO2B_ENST00000540068.1_Missense_Mutation_p.A373E	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	378					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	p.A378E(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						ACGGAGCCAGCACTGACCCCG	0.607000													18	31					1.15919e-05	1.49724e-05	0.204396	1	0
DNAI2	64446	broad.mit.edu	37	17	72287239	72287239	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:72287239G>T	ENST00000579490.1	+	5	997	c.862G>T	c.(862-864)Gta>Tta	p.V288L	DNAI2_ENST00000446837.2_Missense_Mutation_p.V231L|DNAI2_ENST00000307504.5_Missense_Mutation_p.V88L|DNAI2_ENST00000311014.6_Missense_Mutation_p.V231L|DNAI2_ENST00000582036.1_Missense_Mutation_p.V231L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	231					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.V231L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGATTCCCACGTACTCCTGGG	0.403000									Kartagener syndrome				47	141					1.23713e-20	2.3133e-20	0.139131	1	0
CNGA4	1262	broad.mit.edu	37	11	6263036	6263036	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:6263036G>T	ENST00000533426.1	+	5	751	c.600G>T	c.(598-600)agG>agT	p.R200S	CNGA4_ENST00000379936.2_Intron			Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	0					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTGTTCCAGGGACAAGGATG	0.522000													9	35					0.00448238	0.00486753	0.047766	1	0
RNF138	51444	broad.mit.edu	37	18	29706687	29706687	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:29706687G>T	ENST00000261593.3	+	7	1051	c.593G>T	c.(592-594)gGa>gTa	p.G198V	RNF138_ENST00000257190.5_Missense_Mutation_p.G104V	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	198					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding	p.G198V(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CTTCCTTGGGGAGATCCTAGC	0.299000													10	57					0.00136819	0.00152414	0.093190	1	0
COX4I1	1327	broad.mit.edu	37	16	85838628	85838628	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:85838628G>C	ENST00000564903.1	+	2	163	c.159G>C	c.(157-159)aaG>aaC	p.K53N	COX4I1_ENST00000561569.1_Missense_Mutation_p.K53N|COX4I1_ENST00000568794.1_Missense_Mutation_p.K53N|COX4I1_ENST00000562336.1_Missense_Mutation_p.K53N|COX4I1_ENST00000570123.1_3'UTR|COX4I1_ENST00000253452.2_Missense_Mutation_p.K53N			P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	53					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding	p.K53N(1)		endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9		Renal(780;0.228)				CCCATGTCAAGCACCTGTCTG	0.532000													7	23					0	0	0.029380	0	0
AMY1C	278	broad.mit.edu	37	1	104297234	104297234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:104297234G>A	ENST00000370079.3	+	6	1056	c.992G>A	c.(991-993)tGg>tAg	p.W331*		NM_001008219.1	NP_001008220.1	P04745	AMY1_HUMAN	amylase, alpha 1C (salivary)	331					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding|protein binding	p.W331*(1)		lung(5)|skin(3)	8		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		CTTACCTTCTGGGATGCTAGG	0.388000													33	271					0	0	0.117977	0	0
RLF	6018	broad.mit.edu	37	1	40701547	40701547	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:40701547G>T	ENST00000372771.4	+	8	1200	c.1173G>T	c.(1171-1173)aaG>aaT	p.K391N		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	391					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.K391N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGGAAATGAAGGCATCAGTTT	0.403000													11	48					1.08611e-07	1.56562e-07	0.080935	1	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394396	39394396	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:39394396C>T	ENST00000254072.6	+	1	100	c.93C>T	c.(91-93)ccC>ccT	p.P31P		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	31	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament		p.P31P(1)		lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCAGCACACCCTGCTGCCAGC	0.617000													9	60					0	0	0.069234	0	0
ETFDH	2110	broad.mit.edu	37	4	159601639	159601639	+	Silent	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:159601639T>C	ENST00000511912.1	+	2	387	c.55T>C	c.(55-57)Tta>Cta	p.L19L	ETFDH_ENST00000307738.5_Intron	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	19					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	p.L19L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		CTTTCATGCCTTAAAAATTAA	0.323000													11	46					0	0	0.080935	0	0
SCN2A	6326	broad.mit.edu	37	2	166245431	166245431	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:166245431C>A	ENST00000375437.2	+	27	5405	c.5115C>A	c.(5113-5115)atC>atA	p.I1705I	SCN2A_ENST00000375427.2_Silent_p.I1705I|SCN2A_ENST00000357398.3_Silent_p.I1705I|SCN2A_ENST00000283256.6_Silent_p.I1705I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1705					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.I1705I(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACAGCATGATCTGCCTGTTCC	0.463000													27	131					7.26314e-15	1.26608e-14	0.125774	1	0
LDLR	3949	broad.mit.edu	37	19	11224363	11224363	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:11224363A>G	ENST00000558518.1	+	10	1698	c.1511A>G	c.(1510-1512)aAg>aGg	p.K504R	LDLR_ENST00000455727.2_Missense_Mutation_p.K336R|LDLR_ENST00000557933.1_Missense_Mutation_p.K504R|LDLR_ENST00000535915.1_Missense_Mutation_p.K463R|LDLR_ENST00000558013.1_Missense_Mutation_p.K504R|LDLR_ENST00000545707.1_Missense_Mutation_p.K377R	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	504					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.K504R(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GCGGATACCAAGGGCGTGAAG	0.587000													22	17					0	0	0.083992	0	0
TTC9C	283237	broad.mit.edu	37	11	62502894	62502894	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62502894G>T	ENST00000316461.4	+	2	589	c.279G>T	c.(277-279)gtG>gtT	p.V93V	TTC9C_ENST00000532583.1_Silent_p.V93V|TTC9C_ENST00000513247.2_3'UTR	NM_173810.3	NP_776171.1	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	93							binding	p.V93V(1)		breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						ACGAACGAGTGAGAGAATATA	0.512000													9	42					3.86212e-05	4.79819e-05	0.069234	1	0
ANKIB1	54467	broad.mit.edu	37	7	92015853	92015853	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:92015853G>A	ENST00000265742.3	+	12	2024	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	550							protein binding|zinc ion binding	p.E550K(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GATTTGCCTTGAAGAGTGGAA	0.378000													3	9					0	0	0.150653	0	0
HEATR5B	54497	broad.mit.edu	37	2	37280682	37280682	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:37280682T>A	ENST00000233099.5	-	17	2563	c.2468A>T	c.(2467-2469)cAg>cTg	p.Q823L	HEATR5B_ENST00000354531.2_Missense_Mutation_p.Q823L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	823							binding	p.Q823L(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TATGTTAAGCTGCACAGCCTG	0.308000													10	33					0	0	0.080935	0	0
FBXL12	54850	broad.mit.edu	37	19	9921870	9921870	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:9921870C>A	ENST00000247977.4	-	3	924	c.683G>T	c.(682-684)cGa>cTa	p.R228L	FBXL12_ENST00000585379.1_Missense_Mutation_p.R175L|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000591009.1_Missense_Mutation_p.R175L|FBXL12_ENST00000586651.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	228							protein binding	p.R228L(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						GCGCACATCTCGGAGGTGGCG	0.667000													4	13					0.000602214	0.000684377	0.184627	1	0
SORCS1	114815	broad.mit.edu	37	10	108923870	108923870	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:108923870C>A	ENST00000263054.6	-	1	422	c.415G>T	c.(415-417)Gag>Tag	p.E139*	SORCS1_ENST00000344440.6_Nonsense_Mutation_p.E139*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	139						integral to membrane	neuropeptide receptor activity|protein binding	p.E139*(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)		GTCCCAGGCTCCTGCTGCCCT	0.682000													7	38					5.68852e-11	9.24543e-11	0.047766	1	0
RFX6	222546	broad.mit.edu	37	6	117244365	117244365	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:117244365C>A	ENST00000332958.2	+	14	1549	c.1533C>A	c.(1531-1533)acC>acA	p.T511T		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	511					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.T511T(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						ATAATCTCACCTTGAACAATG	0.343000													18	45					4.96729e-08	7.28205e-08	0.204396	1	0
GATA3	2625	broad.mit.edu	37	10	8115980	8115980	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:8115980G>T	ENST00000379328.3	+	6	1897	c.1329G>T	c.(1327-1329)atG>atT	p.M443I	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.M442I	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	442					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.M443I(2)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCACCGCCATGGGTTAGAGCC	0.607000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						10	26					2.80697e-09	4.32705e-09	0.080935	1	0
C8orf74	203076	broad.mit.edu	37	8	10555378	10555378	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:10555378C>G	ENST00000304519.5	+	3	540	c.511C>G	c.(511-513)Ctg>Gtg	p.L171V	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	171								p.L171V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		GGTGGCCACACTGACGGAGGC	0.682000													4	28					0	0	0.184627	0	0
GORAB	92344	broad.mit.edu	37	1	170501310	170501310	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:170501310G>A	ENST00000367763.3	+	1	41	c.21G>A	c.(19-21)ttG>ttA	p.L7L	GORAB_ENST00000367762.1_Silent_p.L7L|RP11-576I22.2_ENST00000456083.1_RNA	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	7						Golgi apparatus|nucleus		p.L7L(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						CAGCAGTGTTGGCAGTCGCGG	0.657000													7	59					0	0	0.038147	0	0
GOT1L1	137362	broad.mit.edu	37	8	37793322	37793322	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:37793322G>C	ENST00000307599.4	-	7	928	c.829C>G	c.(829-831)Cag>Gag	p.Q277E	GOT1L1_ENST00000518826.1_Missense_Mutation_p.Q18E	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	277					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	p.Q277E(2)		central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CCTTCCAGCTGGGAGAGGACA	0.597000													11	41					0	0	0.093190	0	0
CNTN4	152330	broad.mit.edu	37	3	2967317	2967317	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:2967317A>T	ENST00000397461.1	+	12	1596	c.1212A>T	c.(1210-1212)gtA>gtT	p.V404V	CNTN4_ENST00000427331.1_Silent_p.V404V|CNTN4_ENST00000358480.3_Silent_p.V185V|CNTN4_ENST00000448906.2_Silent_p.V76V|CNTN4_ENST00000397459.2_Silent_p.V76V|CNTN4_ENST00000418658.1_Silent_p.V404V|CNTN4_ENST00000475817.1_3'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	404					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.V76V(1)|p.V404V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTTCAGCTGTAGGTCCAGATT	0.368000													26	51					0	0	0.108266	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656998	40656998	+	Silent	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:40656998G>C	ENST00000406785.1	-	2	612	c.423C>G	c.(421-423)gcC>gcG	p.A141A	SLC8A1_ENST00000408028.2_Silent_p.A141A|SLC8A1_ENST00000332839.4_Silent_p.A141A|SLC8A1_ENST00000403092.1_Silent_p.A141A|SLC8A1_ENST00000402441.1_Silent_p.A141A|SLC8A1_ENST00000406391.2_Silent_p.A141A|SLC8A1_ENST00000405901.3_Silent_p.A141A|SLC8A1_ENST00000405269.1_Silent_p.A141A|SLC8A1_ENST00000542024.1_Silent_p.A141A|SLC8A1_ENST00000542756.1_Silent_p.A141A			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	141					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.A141A(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAGATCCCAGGGCCATCAAGG	0.463000													10	74					0	0	0.080935	0	0
ASNA1	439	broad.mit.edu	37	19	12856311	12856311	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:12856311G>A	ENST00000591090.1	+	4	532	c.430G>A	c.(430-432)Gag>Aag	p.E144K	ASNA1_ENST00000357332.3_Missense_Mutation_p.E144K			O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	144					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding	p.E144K(1)		endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	CGGCATCGATGAGGCCATGAG	0.632000													21	25					0	0	0.219247	0	0
LRGUK	136332	broad.mit.edu	37	7	133948696	133948696	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:133948696C>A	ENST00000285928.2	+	20	2516	c.2447C>A	c.(2446-2448)aCc>aAc	p.T816N		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	816							ATP binding|kinase activity	p.T816N(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						GTCAAACCCACCCTCCCTCCA	0.498000													23	19					1.64293e-13	2.80389e-13	0.083992	1	0
STK32A	202374	broad.mit.edu	37	5	146658824	146658824	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:146658824G>A	ENST00000397936.3	+	4	456	c.123G>A	c.(121-123)caG>caA	p.Q41Q	STK32A_ENST00000398521.3_Silent_p.Q41Q|STK32A_ENST00000398523.3_Silent_p.Q41Q|STK32A_ENST00000541094.1_Silent_p.Q41Q	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	41	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.Q41Q(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATTGTACAGAAGAATGATA	0.413000													11	17					0	0	0.093190	0	0
TRIP13	9319	broad.mit.edu	37	5	895012	895012	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:895012G>A	ENST00000166345.3	+	2	559	c.203G>A	c.(202-204)aGa>aAa	p.R68K		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	68					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	p.R68K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			TTTTTGACCAGAAATGTGCAG	0.363000													11	58					0	0	0.080935	0	0
ATF6	22926	broad.mit.edu	37	1	161736161	161736161	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:161736161C>T	ENST00000367942.3	+	1	78	c.11C>T	c.(10-12)cCg>cTg	p.P4L		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	4	Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.P4L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			ATGGGGGAGCCGGCTGGGGTT	0.567000													9	30					0	0	0.080935	0	0
AXDND1	126859	broad.mit.edu	37	1	179398751	179398751	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:179398751C>A	ENST00000367618.3	+	13	1716	c.1329C>A	c.(1327-1329)aaC>aaA	p.N443K	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.N443K	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	443								p.N443K(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGCTATCAAACAAGGTAAAGG	0.328000													5	33					0.014758	0.0155761	0.184627	1	0
AGMO	392636	broad.mit.edu	37	7	15601446	15601446	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:15601446C>A	ENST00000342526.3	-	1	194	c.25G>T	c.(25-27)Gat>Tat	p.D9Y		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	9					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.D9Y(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ACTGAAACATCCTGCTGGGCT	0.428000													18	51					6.49762e-13	1.09615e-12	0.175082	1	0
INTS5	80789	broad.mit.edu	37	11	62415445	62415445	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62415445C>T	ENST00000330574.2	-	2	2159	c.2107G>A	c.(2107-2109)Gaa>Aaa	p.E703K		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	703					snRNA processing	integral to membrane|integrator complex	protein binding	p.E703K(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCAAACAGTTCTGTGTTGCCT	0.552000													7	38					0	0	0.058154	0	0
USP48	84196	broad.mit.edu	37	1	22078012	22078012	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:22078012C>A	ENST00000308271.9	-	6	1410	c.762G>T	c.(760-762)tcG>tcT	p.S254S	USP48_ENST00000400301.1_Silent_p.S254S|USP48_ENST00000529637.1_Silent_p.S254S|USP48_ENST00000421625.2_Silent_p.S254S	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	254					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.S254S(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TCAAAAATTCCGAGATACAAT	0.358000													17	99					1.02788e-11	1.70461e-11	0.160694	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140725056	140725056	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140725056C>G	ENST00000253812.6	+	1	1456	c.1456C>G	c.(1456-1458)Cgc>Ggc	p.R486G	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.R486G(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACAACGCCCGCATCACTTA	0.552000													23	45					0	0	0.069288	0	0
MIR892A	100126342	broad.mit.edu	37	X	145078248	145078248	+	RNA	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:145078248G>T	ENST00000401124.1	-	0	13					NR_030584.1																						GCACCTTTCTGAGTAAGGCAC	0.507000													18	57					1.56452e-12	2.63329e-12	0.189662	1	0
KRT33B	3884	broad.mit.edu	37	17	39521116	39521116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:39521116C>A	ENST00000251646.3	-	6	1061	c.1012G>T	c.(1012-1014)Gag>Tag	p.E338*		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	338	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity	p.E338*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				ACCTGATACTCCTGGTTCTGC	0.642000													8	63					2.80697e-09	4.32705e-09	0.080935	1	0
PCLO	27445	broad.mit.edu	37	7	82544170	82544170	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:82544170C>A	ENST00000423517.2	-	7	13469	c.13132G>T	c.(13132-13134)Gct>Tct	p.A4378S	PCLO_ENST00000333891.8_Missense_Mutation_p.A4378S|PCLO_ENST00000437081.1_Missense_Mutation_p.A1098S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4309					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.A4378S(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGGGTCCAGCTGCAGCCCTG	0.512000													7	34					8.12818e-05	9.85601e-05	0.029380	1	0
OR2J3	442186	broad.mit.edu	37	6	29080108	29080108	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:29080108G>T	ENST00000377169.1	+	1	441	c.441G>T	c.(439-441)ctG>ctT	p.L147L		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L147L(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GCCACCTGCTGGCTGTGGCTT	0.502000													75	92					6.86016e-32	1.3061e-31	0.139131	1	0
GRIA3	2892	broad.mit.edu	37	X	122460066	122460066	+	Splice_Site	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:122460066T>A	ENST00000264357.5	+	4	988		c.e4+2		GRIA3_ENST00000541091.1_Splice_Site|GRIA3_ENST00000371256.5_Splice_Site|GRIA3_ENST00000371251.1_Splice_Site|GRIA3_ENST00000542149.1_Splice_Site	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3						glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.?(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TTGGAACAGGTACGTTTGAGA	0.398000													5	37					0	0	0.217242	0	0
BCL11A	53335	broad.mit.edu	37	2	60689034	60689034	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:60689034G>A	ENST00000335712.6	-	4	1240	c.1013C>T	c.(1012-1014)cCt>cTt	p.P338L	BCL11A_ENST00000356842.4_Missense_Mutation_p.P338L|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.P304L|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.P304L	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	338	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.P338F(2)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCTTTGCATAGGGCTGGGCCG	0.637000			T	IGH@	B-CLL								11	85					0	0	0.119110	0	0
NCOR2	9612	broad.mit.edu	37	12	124826399	124826399	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:124826399G>A	ENST00000356219.3	-	35	5334	c.5179C>T	c.(5179-5181)Ctg>Ttg	p.L1727L	NCOR2_ENST00000405201.1_Silent_p.L1720L|NCOR2_ENST00000429285.2_Silent_p.L1710L|NCOR2_ENST00000404621.1_Silent_p.L1710L|NCOR2_ENST00000404121.2_Silent_p.L1281L|NCOR2_ENST00000397355.1_Silent_p.L1711L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1728					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	p.L1727L(1)|p.L1720L(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TTGAGTGCCAGCGAGGACTCG	0.647000													12	57					0	0	0.132662	0	0
AVPR1A	552	broad.mit.edu	37	12	63543873	63543873	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:63543873G>A	ENST00000299178.2	-	1	849	c.744C>T	c.(742-744)cgC>cgT	p.R248R		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	248					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.G249W(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCGTCTTCCCGCGGACGTTGC	0.617000													16	92					0	0	0.146539	0	0
HMCN1	83872	broad.mit.edu	37	1	186084471	186084471	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:186084471G>T	ENST00000271588.4	+	75	11715	c.11486G>T	c.(11485-11487)gGg>gTg	p.G3829V	HMCN1_ENST00000367492.2_Missense_Mutation_p.G3829V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3829	Ig-like C2-type 37.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.G3829V(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGGCTACTGGGATACCAAAA	0.388000													13	83					0.00185496	0.00205857	0.105934	1	0
GPR112	139378	broad.mit.edu	37	X	135429357	135429357	+	Silent	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:135429357T>A	ENST00000394143.1	+	6	3783	c.3492T>A	c.(3490-3492)acT>acA	p.T1164T	GPR112_ENST00000394141.1_Silent_p.T959T|GPR112_ENST00000370652.1_Silent_p.T1164T|GPR112_ENST00000412101.1_Silent_p.T959T|GPR112_ENST00000287534.4_Silent_p.T1101T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1164					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T1164K(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)					TGATCTCAACTACGTCTACAC	0.473000													29	89					0	0	0.163468	0	0
TTN	7273	broad.mit.edu	37	2	179578693	179578693	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:179578693C>A	ENST00000589042.1	-	92	26916	c.26692G>T	c.(26692-26694)Ggg>Tgg	p.G8898W	TTN_ENST00000342992.6_Missense_Mutation_p.G7654W|TTN_ENST00000591111.1_Missense_Mutation_p.G8581W|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8581	Ig-like 72.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G7654W(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)			CTGTATACCCCACTGTCACTC	0.428000													5	17					0.000602214	0.000684377	0.184627	1	0
C4orf21	55345	broad.mit.edu	37	4	113539234	113539234	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:113539234T>A	ENST00000505019.1	-	6	2089	c.1964A>T	c.(1963-1965)tAc>tTc	p.Y655F	C4orf21_ENST00000309071.5_Missense_Mutation_p.Y655F|C4orf21_ENST00000445203.2_Missense_Mutation_p.Y624F	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	655								p.Y655F(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATTATCTCCGTATACAGCATC	0.318000													13	47					0	0	0.119110	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41737150	41737150	+	Splice_Site	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:41737150G>A	ENST00000352645.4	+	11	1454	c.1197_splice	c.e11+1	p.S399_splice	ZC3H7B_ENST00000351589.4_Splice_Site_p.S399_splice	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	415					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	p.S399S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CAGCCCCCTCGGTGAGTGACT	0.612000													7	23					0	0	0.038147	0	0
BCAR1	9564	broad.mit.edu	37	16	75268814	75268814	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:75268814C>A	ENST00000546196.1	-	5	3548	c.1896G>T	c.(1894-1896)atG>atT	p.M632I	BCAR1_ENST00000393422.2_Missense_Mutation_p.M679I|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000162330.5_Missense_Mutation_p.M661I|BCAR1_ENST00000542031.2_Missense_Mutation_p.M659I|BCAR1_ENST00000538440.2_Missense_Mutation_p.M661I|BCAR1_ENST00000420641.3_Missense_Mutation_p.M679I|BCAR1_ENST00000535626.2_Missense_Mutation_p.M513I|BCAR1_ENST00000393420.6_Missense_Mutation_p.M679I|BCAR1_ENST00000418647.3_Missense_Mutation_p.M707I			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	661					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	p.M707I(1)|p.M661I(1)|p.M679I(1)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CATAGTCCTCCATCCAGCCCC	0.632000													5	30					5.9392e-07	8.30808e-07	0.217242	1	0
DDX39B	7919	broad.mit.edu	37	6	31500659	31500659	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:31500659C>A	ENST00000417556.2	-	8	1440	c.810G>T	c.(808-810)acG>acT	p.T270T	DDX39B_ENST00000376177.2_Silent_p.T255T|DDX39B_ENST00000396172.1_Silent_p.T255T|DDX39B_ENST00000415382.2_Silent_p.T177T|DDX39B_ENST00000458640.1_Silent_p.T255T|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	255	Helicase C-terminal.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	p.T255T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GCGTCAACTTCGTCTCATCAT	0.572000													3	24					5.9392e-07	8.30808e-07	0.217242	1	0
DPYS	1807	broad.mit.edu	37	8	105440265	105440265	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:105440265G>T	ENST00000351513.2	-	6	1167	c.1035C>A	c.(1033-1035)atC>atA	p.I345I		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	345					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.I345I(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCCCATTGGGGATCTTGGTAA	0.453000													16	65					1.99824e-07	2.8524e-07	0.160694	1	0
OR8H3	390152	broad.mit.edu	37	11	55890265	55890265	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:55890265G>C	ENST00000313472.3	+	1	417	c.417G>C	c.(415-417)agG>agC	p.R139S		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R139S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGCCCAAAAGGCTCTGCCTCG	0.458000													20	96					0	0	0.108266	0	0
KIF2B	84643	broad.mit.edu	37	17	51900752	51900752	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:51900752C>A	ENST00000268919.4	+	1	514	c.358C>A	c.(358-360)Ccc>Acc	p.P120T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	120					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.P120T(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGCGATGATCCCCCAGAAAAA	0.592000													12	50					7.03913e-09	1.06605e-08	0.093190	1	0
SCN1A	6323	broad.mit.edu	37	2	166854551	166854551	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:166854551C>G	ENST00000423058.2	-	23	4490	c.4473G>C	c.(4471-4473)aaG>aaC	p.K1491N	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.K1491N|SCN1A_ENST00000409050.1_Missense_Mutation_p.K1463N|SCN1A_ENST00000375405.3_Missense_Mutation_p.K1480N	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1491						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.K1480N(1)|p.K1491N(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TACTTATCTTCTTTTTCTGCT	0.318000													9	39					0	0	0.069234	0	0
SALL3	27164	broad.mit.edu	37	18	76753771	76753771	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:76753771A>T	ENST00000536229.3	+	1	2090	c.1381A>T	c.(1381-1383)Act>Tct	p.T461S	SALL3_ENST00000537592.2_Missense_Mutation_p.T594S|SALL3_ENST00000575389.2_Missense_Mutation_p.T594S			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T594S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCCGCCCCTCACTAAAGCCGA	0.736000													3	4					0	0	0.115264	0	0
FAM135B	51059	broad.mit.edu	37	8	139255187	139255187	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:139255187C>T	ENST00000395297.1	-	7	837	c.667G>A	c.(667-669)Gag>Aag	p.E223K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	223								p.E223K(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGCCTTACCTCTGAGGAAGTC	0.463000										HNSCC(54;0.14)			5	32					0	0	0.184627	0	0
ACTN3	89	broad.mit.edu	37	11	66328121	66328121	+	RNA	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:66328121C>T	ENST00000513398.1	+	0	1852				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TCATGGGCATCCAGGGTGAGA	0.607000													11	52					0	0	0.069234	0	0
PEX11G	92960	broad.mit.edu	37	19	7543247	7543247	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:7543247C>A	ENST00000593942.1	-	6	736	c.234G>T	c.(232-234)ctG>ctT	p.L78L	PEX11G_ENST00000221480.1_Silent_p.L148L|PEX11G_ENST00000599519.1_5'UTR			Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	148						integral to membrane|peroxisomal membrane		p.L148L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						TCAGTTTCAGCAGCATCCACA	0.677000													6	13					0.00198382	0.00218175	0.029380	1	0
ST18	9705	broad.mit.edu	37	8	53079446	53079446	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:53079446C>T	ENST00000276480.7	-	11	1853	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	390						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S390S(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGGGGCACCCCGAAAGGCTGC	0.562000													22	71					0	0	0.108266	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559020	140559020	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140559020C>G	ENST00000239444.2	+	1	1650	c.1405C>G	c.(1405-1407)Ctg>Gtg	p.L469V		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		469	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L469V(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCCCCGCCCTGCACATCGG	0.647000													52	233					0	0	0.139131	0	0
CYP2B6	1555	broad.mit.edu	37	19	41512853	41512853	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:41512853C>T	ENST00000324071.4	+	4	535	c.528C>T	c.(526-528)gcC>gcT	p.A176A	CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	176					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.A176A(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CCATTACCGCCAACATCATCT	0.498000													14	21					0	0	0.119110	0	0
SNTG1	54212	broad.mit.edu	37	8	51621488	51621488	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:51621488C>A	ENST00000522124.1	+	17	1895	c.1234C>A	c.(1234-1236)Ctc>Atc	p.L412I	SNTG1_ENST00000517473.1_Missense_Mutation_p.L412I|SNTG1_ENST00000276467.5_Missense_Mutation_p.L412I|SNTG1_ENST00000518864.1_Missense_Mutation_p.L412I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	412					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.L412I(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCTAATGGGACTCACAATTGA	0.358000													21	67					1.96292e-10	3.13811e-10	0.219247	1	0
BOD1L1	259282	broad.mit.edu	37	4	13604728	13604728	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:13604728C>A	ENST00000040738.5	-	10	3931	c.3796G>T	c.(3796-3798)Gct>Tct	p.A1266S		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1266							DNA binding	p.A1266S(1)									TCTCCTTGAGCAACATGTTCT	0.408000													9	30					7.48243e-07	1.03974e-06	0.058154	1	0
KLK9	284366	broad.mit.edu	37	19	51507026	51507026	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:51507026G>T	ENST00000250366.6	-	4	570	c.537C>A	c.(535-537)taC>taA	p.Y179*	CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000594211.1_Nonsense_Mutation_p.Y179*|KLK9_ENST00000376832.4_Nonsense_Mutation_p.Y179*	NM_012315.1	NP_036447.1	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	179	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.Y179*(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		TGTGTCCAGGGTATGCCCAGT	0.572000													26	39					9.86323e-18	1.79398e-17	0.091800	1	0
ITIH6	347365	broad.mit.edu	37	X	54783923	54783923	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:54783923G>A	ENST00000218436.6	-	8	2613	c.2584C>T	c.(2584-2586)Cca>Tca	p.P862S		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	862	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.P862S(1)									ATTTGGTGTGGTGGGGCACTC	0.517000													5	23					0	0	0.184627	0	0
PRB1	5542	broad.mit.edu	37	12	11506880	11506880	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:11506880G>T	ENST00000500254.2	-	3	194	c.157C>A	c.(157-159)Cct>Act	p.P53T	PRB1_ENST00000545626.1_Missense_Mutation_p.P53T|PRB1_ENST00000546254.1_Missense_Mutation_p.P53T	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	236	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region		p.P53T(1)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTTCCTGGAGGAGGTGGGGGG	0.577000													25	141					1.71298e-08	2.55987e-08	0.193644	1	0
ASB18	401036	broad.mit.edu	37	2	237150088	237150088	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:237150088C>G	ENST00000330842.6	-	1	170	c.76G>C	c.(76-78)Gca>Cca	p.A26P	AC079135.1_ENST00000415226.1_RNA|ASB18_ENST00000409749.3_Intron			Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	0					intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		GGGGACCCTGCTCTAGCTTGA	0.542000													6	12					0	0	0.217242	0	0
SLC5A5	6528	broad.mit.edu	37	19	17986864	17986864	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:17986864C>T	ENST00000222248.3	+	5	994	c.647C>T	c.(646-648)cCc>cTc	p.P216L		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	216					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	p.P216L(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GTGGGCGGGCCCCGCCAGGTG	0.602000													21	50					0	0	0.076483	0	0
ANKRD26	22852	broad.mit.edu	37	10	27303640	27303640	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:27303640C>A	ENST00000376087.4	-	31	4672	c.4506_splice	c.e31-1	p.A1503_splice	ANKRD26_ENST00000376070.3_Splice_Site_p.A1060_splice|ANKRD26_ENST00000436985.2_Splice_Site_p.A1519_splice	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1502						centrosome		p.A1503S(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GCTGCTTGTGCCTAAAACAAA	0.343000													8	18					0.00307968	0.00335674	0.038147	1	0
ABCA5	23461	broad.mit.edu	37	17	67309322	67309322	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:67309322G>A	ENST00000392676.3	-	3	282	c.218C>T	c.(217-219)aCt>aTt	p.T73I	ABCA5_ENST00000588877.1_Missense_Mutation_p.T73I|ABCA5_ENST00000392677.2_Missense_Mutation_p.T73I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	73					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	p.T73I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ATTAGAAAGAGTAAACTTGTC	0.318000													4	36					0	0	0.217242	0	0
NLRP3	114548	broad.mit.edu	37	1	247592911	247592911	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:247592911C>A	ENST00000366497.2	+	5	2961	c.2181C>A	c.(2179-2181)tcC>tcA	p.S727S	NLRP3_ENST00000391828.3_Silent_p.S727S|NLRP3_ENST00000366496.2_Silent_p.S727S|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000336119.3_Silent_p.S727S	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	732					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.S727S(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACCTCACTTCCAGTTTTTGCC	0.502000													18	122					5.03518e-11	8.21088e-11	0.189662	1	0
CSN2	1447	broad.mit.edu	37	4	70823494	70823494	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:70823494G>A	ENST00000353151.3	-	5	184	c.173C>T	c.(172-174)tCt>tTt	p.S58F		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	58					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	p.S58F(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						TGGCTGGAAAGAGGGGTAGAT	0.418000													12	43					0	0	0.105934	0	0
LRGUK	136332	broad.mit.edu	37	7	133884105	133884105	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:133884105C>A	ENST00000285928.2	+	14	1748	c.1679C>A	c.(1678-1680)tCc>tAc	p.S560Y		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	560	Guanylate kinase-like.						ATP binding|kinase activity	p.S560Y(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						TTTGCTGTCTCCAGAGTGGAC	0.363000													35	93					1.30998e-17	2.37972e-17	0.225048	1	0
POLG	5428	broad.mit.edu	37	15	89866008	89866008	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:89866008C>G	ENST00000268124.5	-	14	2724	c.2391G>C	c.(2389-2391)atG>atC	p.M797I	POLG_ENST00000442287.2_Missense_Mutation_p.M797I	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	797					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	p.M797I(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			AGAAAGAAATCATTTTGTTGA	0.597000								DNA polymerases (catalytic subunits)					103	105					0	0	0.139131	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203839	84203839	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:84203839C>T	ENST00000378553.5	+	8	1529	c.1405C>T	c.(1405-1407)Cca>Tca	p.P469S	DNAAF1_ENST00000334315.5_Intron|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	469	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	p.P469S(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GGGGACCCTCCCAGCTGAGAC	0.637000													6	34					0	0	0.038147	0	0
TCHH	7062	broad.mit.edu	37	1	152082419	152082419	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:152082419G>C	ENST00000368804.1	-	2	3273	c.3274C>G	c.(3274-3276)Cag>Gag	p.Q1092E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1092	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.Q1092E(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCAGCAGctgctcttcctcc	0.617000													20	101					0	0	0.204396	0	0
TECRL	253017	broad.mit.edu	37	4	65155456	65155456	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:65155456A>T	ENST00000381210.3	-	9	914	c.804T>A	c.(802-804)aaT>aaA	p.N268K	TECRL_ENST00000507440.1_Missense_Mutation_p.N268K	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	268					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.N268K(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ACAACATTACATTGATGAAAT	0.284000													4	18					0	0	0.184627	0	0
ZNF600	162966	broad.mit.edu	37	19	53268921	53268921	+	Silent	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:53268921A>G	ENST00000338230.3	-	3	2355	c.2088T>C	c.(2086-2088)tgT>tgC	p.C696C		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	696					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C696C(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		CACACTCATTACACTTGTAAG	0.403000													43	48					0	0	0.139131	0	0
TPR	7175	broad.mit.edu	37	1	186308841	186308841	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:186308841C>G	ENST00000367478.3	-	30	4380	c.4084G>C	c.(4084-4086)Gaa>Caa	p.E1362Q		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1362					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.E1362Q(1)|p.E1363Q(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GTATGAACTTCCTTTTCAGAA	0.318000			T	NTRK1	papillary thyroid								5	39					0	0	0.184627	0	0
CDH2	1000	broad.mit.edu	37	18	25570121	25570121	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:25570121C>A	ENST00000269141.3	-	10	1961	c.1538G>T	c.(1537-1539)gGt>gTt	p.G513V	CDH2_ENST00000399380.3_Missense_Mutation_p.G482V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	513	Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.G513V(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAACATGGTACCGGCATGAAG	0.403000													8	61					1.26484e-09	1.97894e-09	0.038147	1	0
PDE4D	5144	broad.mit.edu	37	5	59284456	59284456	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:59284456C>G	ENST00000502484.2	-	3	354	c.131G>C	c.(130-132)cGc>cCc	p.R44P	PDE4D_ENST00000546160.1_Missense_Mutation_p.R44P	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.R44P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CTGAATATTGCGACATGAAAG	0.483000													27	42					0	0	0.153744	0	0
CCDC113	29070	broad.mit.edu	37	16	58293790	58293790	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:58293790T>A	ENST00000219299.4	+	5	658	c.579T>A	c.(577-579)aaT>aaA	p.N193K	CCDC113_ENST00000443128.2_Missense_Mutation_p.N139K	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	193						protein complex		p.N193K(1)		large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GTTTGAAAAATGTTTCTCTCA	0.323000													8	51					0	0	0.047766	0	0
METTL2B	55798	broad.mit.edu	37	7	128138196	128138196	+	Splice_Site	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:128138196G>C	ENST00000480046.1	+	6	836	c.721_splice	c.e6+1	p.G241_splice	METTL2B_ENST00000262432.8_Splice_Site_p.G306_splice			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	306							methyltransferase activity	p.G306R(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GTTTAAAAAAGGTATTTTGAG	0.463000													6	41					0	0	0.029380	0	0
ETNK1	55500	broad.mit.edu	37	12	22811970	22811970	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:22811970A>C	ENST00000266517.4	+	3	795	c.706A>C	c.(706-708)Aaa>Caa	p.K236Q		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	236				RLIARQLAKIHAIHAHNGWIPKSNLWLKMGK -> SLSSLT LCKGKTTRCFGLTGCRGSRLLLSFF (in Ref. 2; AAH06111).	phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity	p.K236Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCAGCTTGCTAAAATCCATGC	0.378000													10	39					0	0	0.093190	0	0
OR8K3	219473	broad.mit.edu	37	11	56086209	56086209	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:56086209G>T	ENST00000312711.1	+	1	427	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V143L(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GGTATGTCAGGTGCTGGTAGC	0.413000													15	65					1.52009e-12	2.56144e-12	0.132662	1	0
DCAF8L2	347442	broad.mit.edu	37	X	27766004	27766004	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:27766004C>T	ENST00000451261.2	+	5	1391	c.992C>T	c.(991-993)cCt>cTt	p.P331L		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2									p.P298L(1)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CCTGACTCTCCTTATAAGTTC	0.463000													6	14					0	0	0.217242	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94341979	94341979	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:94341979G>A	ENST00000436063.2	-	2	1569	c.1512C>T	c.(1510-1512)taC>taT	p.Y504Y	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Y504Y(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CCTCTTCCAAGTAAAAATTTT	0.393000													4	11					0	0	0.150653	0	0
EPHB6	2051	broad.mit.edu	37	7	142564763	142564763	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:142564763C>G	ENST00000392957.2	+	11	2474	c.1687C>G	c.(1687-1689)Cgg>Ggg	p.R563G	EPHB6_ENST00000442129.1_Missense_Mutation_p.R563G|EPHB6_ENST00000411471.2_Missense_Mutation_p.R286G	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	563	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.R548G(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGTGCGGGCCCGGACTGCTGC	0.627000													12	45					0	0	0.093190	0	0
ZNF536	9745	broad.mit.edu	37	19	31039148	31039148	+	Silent	SNP	G	G	C	rs142296958		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:31039148G>C	ENST00000355537.3	+	4	2769	c.2622G>C	c.(2620-2622)acG>acC	p.T874T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	874					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.T874T(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCAGGCCACGGGCATGTCTT	0.557000													41	48					0	0	0.131918	0	0
MUC16	94025	broad.mit.edu	37	19	9088391	9088391	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:9088391C>A	ENST00000397910.4	-	1	3627	c.3424G>T	c.(3424-3426)Gat>Tat	p.D1142Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1142	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D1142Y(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						GAGCCAGGATCAGGAGATGGA	0.458000													15	27					2.62699e-14	4.53612e-14	0.132662	1	0
CNDP1	84735	broad.mit.edu	37	18	72247405	72247405	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:72247405A>G	ENST00000582365.1	+	9	1144	c.1078A>G	c.(1078-1080)Agt>Ggt	p.S360G	CNDP1_ENST00000358821.3_Missense_Mutation_p.S403G			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	403					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.S403G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CAAAAGAAATAGTTCCAACAA	0.388000													7	17					0	0	0.029380	0	0
PTGS1	5742	broad.mit.edu	37	9	125154597	125154597	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:125154597G>C	ENST00000362012.2	+	11	1579	c.1574G>C	c.(1573-1575)gGg>gCg	p.G525A	PTGS1_ENST00000373698.5_Missense_Mutation_p.G416A|PTGS1_ENST00000223423.4_Missense_Mutation_p.G488A|PTGS1_ENST00000540753.1_Missense_Mutation_p.G463A	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	525					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.G525A(1)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	ATAGAGATTGGGGCTCCCTTT	0.498000													19	65					0	0	0.234183	0	0
CACNA1E	777	broad.mit.edu	37	1	181620524	181620524	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:181620524C>T	ENST00000526775.1	+	7	1167	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	CACNA1E_ENST00000360108.3_Silent_p.L334L|CACNA1E_ENST00000367570.1_Silent_p.L334L|CACNA1E_ENST00000367573.2_Silent_p.L334L|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Silent_p.L285L|CACNA1E_ENST00000358338.5_Silent_p.L285L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	334					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.L334L(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCATCCCCCTCATCATCATTG	0.438000													12	73					0	0	0.080935	0	0
OR2T6	254879	broad.mit.edu	37	1	248551230	248551230	+	Silent	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248551230T>C	ENST00000355728.2	+	1	321	c.321T>C	c.(319-321)ttT>ttC	p.F107F		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F107F(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACATGGGCTTTATGGGGGCTG	0.557000													15	70					0	0	0.132662	0	0
MROH7	374977	broad.mit.edu	37	1	55148376	55148376	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:55148376G>C	ENST00000414150.2	+	14	2707	c.2429G>C	c.(2428-2430)tGt>tCt	p.C810S	MROH7_ENST00000454855.2_Missense_Mutation_p.C328S|MROH7_ENST00000409996.1_Missense_Mutation_p.C378S|MROH7_ENST00000395690.2_Missense_Mutation_p.C810S|MROH7_ENST00000545244.1_Missense_Mutation_p.C378S|MROH7_ENST00000339553.5_Missense_Mutation_p.C810S|MROH7_ENST00000421030.2_Missense_Mutation_p.C810S					maestro heat-like repeat family member 7									p.C810S(2)									AAGCCCAGCTGTGATGTCCGA	0.612000													19	64					0	0	0.189662	0	0
DHCR24	1718	broad.mit.edu	37	1	55319740	55319740	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:55319740C>G	ENST00000371269.3	-	7	1286	c.1188G>C	c.(1186-1188)caG>caC	p.Q396H	DHCR24_ENST00000537443.1_Missense_Mutation_p.Q180H|DHCR24_ENST00000535035.1_Missense_Mutation_p.Q355H	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	396					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	p.Q396H(1)		large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						TGTGCAGGGCCTGCTGCAGGC	0.622000													4	12					0	0	0.150653	0	0
POLR3B	55703	broad.mit.edu	37	12	106760300	106760300	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:106760300G>T	ENST00000228347.4	+	3	334	c.112G>T	c.(112-114)Ggc>Tgc	p.G38C	POLR3B_ENST00000539066.1_5'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	38					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.G38C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTAGGTGAAAGGCCTTGTGAA	0.308000													4	16					0.000602214	0.000684377	0.184627	1	0
KTI12	112970	broad.mit.edu	37	1	52498521	52498521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:52498521C>A	ENST00000371614.1	-	1	967	c.913G>T	c.(913-915)Gag>Tag	p.E305*	TXNDC12_ENST00000472624.1_Intron|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	305							ATP binding	p.E305*(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						CGCAAGTGCTCTGTGGTACCA	0.547000													16	71					2.31682e-05	2.93051e-05	0.132662	1	0
GRM2	2912	broad.mit.edu	37	3	51743227	51743227	+	Silent	SNP	G	G	A	rs140328919		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:51743227G>A	ENST00000395052.3	+	2	462	c.228G>A	c.(226-228)ccG>ccA	p.P76P	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Silent_p.P76P	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	76					synaptic transmission	integral to plasma membrane		p.P76P(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	ACCGTGACCCGCACCTGCTGC	0.632000													27	71					0	0	0.125774	0	0
NOC4L	79050	broad.mit.edu	37	12	132630210	132630210	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:132630210G>T	ENST00000330579.1	+	3	386	c.345_splice	c.e3+1	p.K115_splice		NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	115					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	p.K115N(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		TTCAGGTCAAGGTGGGTCATT	0.587000													3	13					0.115264	0.118414	0.115264	1	0
FERD3L	222894	broad.mit.edu	37	7	19184799	19184799	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:19184799C>T	ENST00000275461.3	-	1	245	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	63	Poly-Glu.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E63K(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						tcctcttcttctgggtccccc	0.637000													3	22					0	0	0.150653	0	0
NRG1	3084	broad.mit.edu	37	8	32617782	32617782	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:32617782G>A	ENST00000338921.4	+	12	1667	c.1150G>A	c.(1150-1152)Gta>Ata	p.V384I	NRG1_ENST00000405005.2_Missense_Mutation_p.V376I|NRG1_ENST00000356819.4_Missense_Mutation_p.V381I|NRG1_ENST00000523079.1_Missense_Mutation_p.V373I|NRG1_ENST00000521670.1_Missense_Mutation_p.V376I|NRG1_ENST00000539990.1_Missense_Mutation_p.V219I|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287845.5_Missense_Mutation_p.V347I|NRG1_ENST00000287842.3_Missense_Mutation_p.V373I|NRG1_ENST00000519301.1_Missense_Mutation_p.V326I|NRG1_ENST00000287840.5_Missense_Mutation_p.V376I			Q02297	NRG1_HUMAN	neuregulin 1	376					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.V381I(1)|p.V376I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GATGTCATCCGTAGAAAACAG	0.527000													24	93					0	0	0.099896	0	0
FBXO39	162517	broad.mit.edu	37	17	6683885	6683885	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:6683885A>T	ENST00000321535.4	+	2	828	c.698A>T	c.(697-699)tAc>tTc	p.Y233F		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	233								p.Y233F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						AACCTCAACTACAACTGTATC	0.502000													8	50					0	0	0.038147	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870390	51870390	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:51870390C>A	ENST00000371497.5	+	2	1280	c.393C>A	c.(391-393)aaC>aaA	p.N131K	TSHZ2_ENST00000329613.6_Missense_Mutation_p.N128K|TSHZ2_ENST00000603338.2_Missense_Mutation_p.N128K	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	131					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N131K(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCTACGCCAACATCCTGTCGG	0.527000													7	21					2.0095e-06	2.71264e-06	0.029380	1	0
FHOD3	80206	broad.mit.edu	37	18	34081905	34081905	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:34081905C>A	ENST00000257209.4	+	4	470	c.348C>A	c.(346-348)taC>taA	p.Y116*	FHOD3_ENST00000445677.1_Nonsense_Mutation_p.Y116*|FHOD3_ENST00000590592.1_Nonsense_Mutation_p.Y116*|FHOD3_ENST00000359247.4_Nonsense_Mutation_p.Y116*	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	116	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.Y116*(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AAAAACTATACAACTCCAGCG	0.323000													4	14					0.000602214	0.000684377	0.184627	1	0
CD1C	911	broad.mit.edu	37	1	158262139	158262139	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158262139G>A	ENST00000368170.3	+	3	873	c.594G>A	c.(592-594)atG>atA	p.M198I		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	198					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.M198I(2)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CAGGGAAGATGTATGTACACA	0.453000													49	265					0	0	0.139131	0	0
ZNF679	168417	broad.mit.edu	37	7	63726720	63726720	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:63726720G>C	ENST00000421025.1	+	5	978	c.709G>C	c.(709-711)Gag>Cag	p.E237Q	ZNF679_ENST00000255746.4_Missense_Mutation_p.E237Q	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E237Q(1)		endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TCATACTGGAGAGAAACCCTA	0.403000													6	22					0	0	0.217242	0	0
UTRN	7402	broad.mit.edu	37	6	144757093	144757093	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:144757093A>T	ENST00000367545.3	+	9	878	c.878A>T	c.(877-879)cAt>cTt	p.H293L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	293	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.H293L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAGGAGGAGCATGAGAGTCCC	0.493000													8	14					0	0	0.047766	0	0
MIR30D	407033	broad.mit.edu	37	8	135817159	135817159	+	RNA	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:135817159C>A	ENST00000362283.1	-	0	29					NR_029599.1																						CTGTGTCTTACAGCTTCCAGT	0.428000													13	74					0.00010058	0.000121558	0.093190	1	0
F5	2153	broad.mit.edu	37	1	169510946	169510946	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:169510946G>T	ENST00000367796.3	-	13	3598	c.3397C>A	c.(3397-3399)Caa>Aaa	p.Q1133K	F5_ENST00000367797.3_Missense_Mutation_p.Q1128K			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1128	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.Q1128K(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGGAATGTTTGATAGTGTTCC	0.483000													20	90					1.33834e-09	2.08502e-09	0.189662	1	0
SI	6476	broad.mit.edu	37	3	164724667	164724667	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:164724667G>T	ENST00000264382.3	-	37	4405	c.4343C>A	c.(4342-4344)aCa>aAa	p.T1448K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1448	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.T1448K(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAAAACTGATGTTCCATCACT	0.353000										HNSCC(35;0.089)			3	31					0.115264	0.118414	0.115264	1	0
NLRP8	126205	broad.mit.edu	37	19	56466489	56466489	+	Silent	SNP	G	G	T	rs149180489		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:56466489G>T	ENST00000291971.3	+	3	1136	c.1065G>T	c.(1063-1065)ccG>ccT	p.P355P	NLRP8_ENST00000590542.1_Silent_p.P355P	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	355	NACHT.					cytoplasm	ATP binding	p.P355P(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TAACCCTTCCGGGGTTTAATA	0.453000													31	51					2.2171e-23	4.15636e-23	0.144211	1	0
TRPV6	55503	broad.mit.edu	37	7	142571321	142571321	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:142571321G>C	ENST00000359396.3	-	13	1913	c.1668C>G	c.(1666-1668)agC>agG	p.S556R		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	556					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	p.S556R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CATAGGTGATGCTGTACATGA	0.567000													19	68					0	0	0.189662	0	0
LRMP	4033	broad.mit.edu	37	12	25232384	25232384	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:25232384A>G	ENST00000354454.3	+	7	953	c.124A>G	c.(124-126)Ata>Gta	p.I42V	LRMP_ENST00000547044.1_Missense_Mutation_p.I42V|LRMP_ENST00000548766.1_Missense_Mutation_p.I42V	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	98					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		p.I42V(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					AGACGGTACTATAACTTCAAG	0.393000													23	59					0	0	0.076483	0	0
CGA	1081	broad.mit.edu	37	6	87796049	87796049	+	Silent	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:87796049T>A	ENST00000369582.2	-	3	292	c.192A>T	c.(190-192)ccA>ccT	p.P64P		NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	64					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	p.P64P(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		TGGACCTTAGTGGAGTGGGAT	0.502000													18	87					0	0	0.189662	0	0
TNR	7143	broad.mit.edu	37	1	175372489	175372489	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:175372489G>C	ENST00000367674.1	-	4	1471	c.763C>G	c.(763-765)Ccc>Gcc	p.P255A	TNR_ENST00000263525.2_Missense_Mutation_p.P255A	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	255	Cys-rich.|EGF-like 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.P255A(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCAGTGTAGGGCTCTTCACAG	0.622000													4	45					0	0	0.217242	0	0
UBXN1	51035	broad.mit.edu	37	11	62445457	62445457	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62445457C>T	ENST00000294119.2	-	5	555	c.424G>A	c.(424-426)Gag>Aag	p.E142K	UBXN1_ENST00000301935.5_Missense_Mutation_p.E142K|UBXN1_ENST00000529640.1_Missense_Mutation_p.E142K|UBXN1_ENST00000524762.1_5'UTR	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	142	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	p.E142K(1)		endometrium(5)|lung(12)	17						CGGCGCATCTCATCTTCCTGT	0.577000													8	30					0	0	0.047766	0	0
RYR3	6263	broad.mit.edu	37	15	33991970	33991970	+	Silent	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:33991970G>C	ENST00000389232.4	+	41	6385	c.6315G>C	c.(6313-6315)cgG>cgC	p.R2105R	RYR3_ENST00000415757.3_Silent_p.R2105R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2105	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2105R(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAATTAGCCGGCAAAATCAGA	0.433000													8	15					0	0	0.047766	0	0
PCSK2	5126	broad.mit.edu	37	20	17434420	17434420	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:17434420G>T	ENST00000262545.2	+	9	1234	c.919G>T	c.(919-921)Gcc>Tcc	p.A307S	PCSK2_ENST00000377899.1_Missense_Mutation_p.A288S|PCSK2_ENST00000536609.1_Missense_Mutation_p.A272S	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	307	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.A307S(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTACGTGTGGGCCTCCGGGGA	0.677000													8	35					0.000274275	0.000320388	0.047766	1	0
DTX1	1840	broad.mit.edu	37	12	113495973	113495973	+	Translation_Start_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:113495973C>A	ENST00000257600.3	+	0	479					NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)						negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						TAGTGGGGGACCTGGCCCCTG	0.677000													6	8					3.59834e-05	4.50483e-05	0.217242	1	0
TTLL7	79739	broad.mit.edu	37	1	84394841	84394841	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:84394841C>A	ENST00000260505.8	-	10	1497	c.1120G>T	c.(1120-1122)Gcg>Tcg	p.A374S	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	374	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	p.A374S(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		AGCTTCAACGCATTTAGCAGC	0.338000													6	41					0.00116845	0.0013046	0.217242	1	0
PBX1	5087	broad.mit.edu	37	1	164789339	164789339	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:164789339C>G	ENST00000420696.2	+	7	1216	c.1028C>G	c.(1027-1029)tCt>tGt	p.S343C	PBX1_ENST00000540236.1_Missense_Mutation_p.S343C|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000367897.1_Intron|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000560641.1_Missense_Mutation_p.S238C|PBX1_ENST00000540246.1_Missense_Mutation_p.S238C	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	343					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	p.S343C(1)	EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ATGTCAAACTCTGGAGATTTG	0.488000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								5	54					0	0	0.184627	0	0
C4orf50	389197	broad.mit.edu	37	4	5975560	5975560	+	Silent	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:5975560T>A	ENST00000531445.1	-	4	1702	c.1656A>T	c.(1654-1656)atA>atT	p.I552I	C4orf50_ENST00000324058.5_Silent_p.I78I			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	78								p.I78I(1)		breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CGAGGGAAGCTATCTTGGCCT	0.667000													4	21					0	0	0.150653	0	0
MCRS1	10445	broad.mit.edu	37	12	49959862	49959862	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:49959862G>T	ENST00000550165.1	-	4	413	c.147C>A	c.(145-147)tcC>tcA	p.S49S	MCRS1_ENST00000357123.4_Silent_p.S62S|MCRS1_ENST00000343810.4_Silent_p.S49S|MCRS1_ENST00000546244.1_Intron			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	49	Ser-rich.				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding	p.S62S(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CTTACTACCTGGAGGAGCTTC	0.607000													15	76					5.3912e-06	7.1267e-06	0.175082	1	0
UBXN1	51035	broad.mit.edu	37	11	62444318	62444318	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62444318C>A	ENST00000294119.2	-	8	942	c.811G>T	c.(811-813)Gaa>Taa	p.E271*	UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000301935.5_Nonsense_Mutation_p.E271*|UBXN1_ENST00000529640.1_Nonsense_Mutation_p.E267*	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	271	Interaction with BRCA1.|UBX.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	p.E271*(1)		endometrium(5)|lung(12)	17						ATGTCAGCTTCTGAGAAGGCC	0.592000													25	102					1.77063e-15	3.13118e-15	0.108266	1	0
MSLNL	401827	broad.mit.edu	37	16	822938	822938	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:822938C>T	ENST00000293892.3	-	11	2246	c.2247G>A	c.(2245-2247)acG>acA	p.T749T	MSLNL_ENST00000442466.1_Silent_p.T398T			Q96KJ4	MSLNL_HUMAN	mesothelin-like	398					cell adhesion	integral to membrane		p.T749T(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GAGCCATGACCGTGTCCTGGG	0.682000													8	29					0	0	0.038147	0	0
HSD17B2	3294	broad.mit.edu	37	16	82131939	82131939	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:82131939G>T	ENST00000199936.4	+	5	1255	c.1062G>T	c.(1060-1062)ttG>ttT	p.L354F	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	354					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	p.L354F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	CTCACTATTTGCCTATTGGCA	0.473000													14	72					0.00400662	0.00436383	0.146539	1	0
MUC5B	727897	broad.mit.edu	37	11	1274101	1274101	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:1274101C>A	ENST00000447027.1	+	33	15175	c.15117C>A	c.(15115-15117)gtC>gtA	p.V5039V	MUC5B_ENST00000529681.1_Silent_p.V5036V			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5036					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.V4991V(1)|p.V5036V(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAACCGTGTCGTCCTGCTGG	0.617000													4	8					0.184627	0.186922	0.184627	1	0
PCDHAC1	56135	broad.mit.edu	37	5	140308490	140308490	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140308490G>C	ENST00000253807.2	+	1	2013	c.2013G>C	c.(2011-2013)tgG>tgC	p.W671C	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.W671C|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018898.3	NP_061721.2												p.W671C(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGATGTCTGGGAACCAGGAG	0.473000													15	144					0	0	0.132662	0	0
ABCC12	94160	broad.mit.edu	37	16	48117862	48117862	+	Silent	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:48117862T>A	ENST00000311303.3	-	28	4296	c.3951A>T	c.(3949-3951)acA>acT	p.T1317T	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1317	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.T1317T(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGTTGAGAACTGTGTTGAGGC	0.517000													12	68					0	0	0.132662	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115602144	115602144	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:115602144C>A	ENST00000361384.2	-	6	3540	c.2623G>T	c.(2623-2625)Gtc>Ttc	p.V875F	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.V875F	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	875					cell division|mitosis	nucleus	hydrolase activity	p.V875F(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GTGCCACAGACAACAAGAGCA	0.388000								Other identified genes with known or suspected DNA repair function					12	80					6.40141e-05	7.87949e-05	0.080935	1	0
ASTN2	23245	broad.mit.edu	37	9	119737608	119737608	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:119737608C>A	ENST00000313400.4	-	10	1868	c.1768G>T	c.(1768-1770)Ggc>Tgc	p.G590C	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.G539C|ASTN2_ENST00000373996.3_Missense_Mutation_p.G586C			O75129	ASTN2_HUMAN	astrotactin 2	590						integral to membrane		p.G539C(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGGCCTTGGCCCAAGCTGAAA	0.552000													7	48					8.12818e-05	9.85601e-05	0.029380	1	0
UBXN1	51035	broad.mit.edu	37	11	62444240	62444240	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62444240T>A	ENST00000294119.2	-	8	1020	c.889A>T	c.(889-891)Agg>Tgg	p.R297W	UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000301935.5_Intron|UBXN1_ENST00000529640.1_Intron	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	115	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	p.R297W(1)		endometrium(5)|lung(12)	17						CATGCCTCCCTACTCCCCCAG	0.537000													18	85					0	0	0.189662	0	0
MYBPC1	4604	broad.mit.edu	37	12	102067343	102067343	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:102067343C>A	ENST00000549145.1	+	25	2870	c.2770C>A	c.(2770-2772)Ctg>Atg	p.L924M	MYBPC1_ENST00000360610.2_Missense_Mutation_p.L911M|MYBPC1_ENST00000441232.1_Missense_Mutation_p.L911M|MYBPC1_ENST00000536007.1_Missense_Mutation_p.L874M|MYBPC1_ENST00000361466.2_Missense_Mutation_p.L918M|MYBPC1_ENST00000361685.2_Missense_Mutation_p.L918M|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000553190.1_Missense_Mutation_p.L893M|MYBPC1_ENST00000551300.1_Missense_Mutation_p.L794M|MYBPC1_ENST00000541119.1_Missense_Mutation_p.L881M|MYBPC1_ENST00000550270.1_Missense_Mutation_p.L911M|MYBPC1_ENST00000452455.2_Missense_Mutation_p.L911M|MYBPC1_ENST00000392934.3_Missense_Mutation_p.L880M|MYBPC1_ENST00000547405.1_Missense_Mutation_p.L867M|MYBPC1_ENST00000547509.1_Missense_Mutation_p.L879M|MYBPC1_ENST00000545503.2_Missense_Mutation_p.L893M			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	911	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	p.L911M(1)|p.L918M(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GAAATATGATCTGCAAGTCAA	0.388000													26	124					4.59853e-10	7.25667e-10	0.108266	1	0
NEFM	4741	broad.mit.edu	37	8	24774647	24774647	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:24774647C>T	ENST00000221166.5	+	3	2061	c.1279C>T	c.(1279-1281)Cga>Tga	p.R427*	NEFM_ENST00000518131.1_Nonsense_Mutation_p.R427*|NEFM_ENST00000433454.2_Nonsense_Mutation_p.R51*|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Nonsense_Mutation_p.R427*			P07197	NFM_HUMAN	neurofilament, medium polypeptide	427	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton	p.R427*(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GTATACACACCGACCCCCAAT	0.443000													8	30					0	0	0.047766	0	0
LAMA1	284217	broad.mit.edu	37	18	7043261	7043261	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:7043261C>T	ENST00000389658.3	-	8	1213	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	374	Laminin EGF-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.E374K(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATACAGGTTTCACAGTTGATT	0.408000													16	138					0	0	0.160694	0	0
P2RY1	5028	broad.mit.edu	37	3	152554428	152554428	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:152554428C>T	ENST00000305097.3	+	1	1693	c.857C>T	c.(856-858)gCc>gTc	p.A286V		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	286					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.A286V(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AACTTGAGGGCCCGGCTTGAT	0.448000													8	64					0	0	0.047766	0	0
PMPCB	9512	broad.mit.edu	37	7	102939074	102939074	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:102939074G>T	ENST00000249269.4	+	2	197	c.159G>T	c.(157-159)ctG>ctT	p.L53L	PMPCB_ENST00000420236.2_5'UTR|PMPCB_ENST00000428154.1_Silent_p.L53L	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	53					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	p.L53L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGTTGTTCTGAATGTTCCTG	0.438000													40	108					3.54561e-26	6.68965e-26	0.111260	1	0
EIF2AK3	9451	broad.mit.edu	37	2	88913343	88913343	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:88913343C>A	ENST00000303236.3	-	2	638	c.337G>T	c.(337-339)Ggg>Tgg	p.G113W	EIF2AK3_ENST00000419748.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	113					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	p.G113W(1)		ovary(3)	3						GCAATTCTCCCATCTAAAGTG	0.373000													9	56					1.12685e-05	1.45676e-05	0.047766	1	0
DPYD	1806	broad.mit.edu	37	1	97658654	97658654	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:97658654C>A	ENST00000370192.3	-	20	2693	c.2593G>T	c.(2593-2595)Gtt>Ttt	p.V865F	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	865					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	p.V865F(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATACGTGGAACTGGTTTCCCT	0.433000													10	35					3.07112e-06	4.11541e-06	0.080935	1	0
IMPG1	3617	broad.mit.edu	37	6	76744338	76744338	+	Splice_Site	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:76744338C>T	ENST00000369963.3	-	2	423	c.234_splice	c.e2+1	p.Q78_splice	IMPG1_ENST00000369950.3_Splice_Site_p.Q156_splice			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	156					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.Q156Q(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)				TTAGGCTCACCTGCTGGAGAA	0.502000													11	30					0	0	0.093190	0	0
NOS2	4843	broad.mit.edu	37	17	26092683	26092683	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:26092683G>T	ENST00000313735.6	-	20	2539	c.2306C>A	c.(2305-2307)cCg>cAg	p.P769Q		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	769	FAD-binding FR-type.				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.P769Q(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)	GTGCTCCCCCGGCAGGTAGTT	0.622000													8	29					0.000274275	0.000320388	0.047766	1	0
SEMA3A	10371	broad.mit.edu	37	7	83739857	83739857	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:83739857G>C	ENST00000265362.3	-	4	696	c.382C>G	c.(382-384)Cac>Gac	p.H128D	SEMA3A_ENST00000436949.1_Missense_Mutation_p.H128D	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	128	Sema.				axon guidance	extracellular region|membrane	receptor activity	p.H128D(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GCGTACAAGTGAGTCTGATTA	0.383000													14	73					0	0	0.105934	0	0
NPY5R	4889	broad.mit.edu	37	4	164272461	164272461	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:164272461G>A	ENST00000515560.1	+	4	2558	c.1036G>A	c.(1036-1038)Gat>Aat	p.D346N	NPY5R_ENST00000338566.3_Missense_Mutation_p.D346N|NPY5R_ENST00000506953.1_Missense_Mutation_p.D346N			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	346					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.D346N(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AGAAAATTCAGATGTTCATGA	0.373000													11	41					0	0	0.080935	0	0
OR13C2	392376	broad.mit.edu	37	9	107367420	107367420	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:107367420C>A	ENST00000542196.1	-	1	531	c.489G>T	c.(487-489)gtG>gtT	p.V163V		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V163V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCAATTGTACCACAAACACTG	0.443000													11	99					2.27111e-07	3.22934e-07	0.093190	1	0
KIF6	221458	broad.mit.edu	37	6	39387722	39387722	+	Splice_Site	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:39387722A>T	ENST00000287152.7	-	15	1905		c.e15+1		KIF6_ENST00000373215.3_Splice_Site|KIF6_ENST00000229913.5_Splice_Site|KIF6_ENST00000373216.3_Splice_Site|KIF6_ENST00000373213.4_Splice_Site|KIF6_ENST00000538893.1_Splice_Site|KIF6_ENST00000541946.1_Splice_Site|KIF6_ENST00000394362.1_Splice_Site	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	p.?(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCATCTGCTTACCAATTTTAC	0.413000													26	31					0	0	0.099896	0	0
CAPN11	11131	broad.mit.edu	37	6	44144383	44144383	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:44144383G>T	ENST00000542245.1	+	10	1105	c.1067G>T	c.(1066-1068)gGg>gTg	p.G356V	CAPN11_ENST00000398776.1_Missense_Mutation_p.G356V			Q9UMQ6	CAN11_HUMAN	calpain 11	356	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.G356V(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACGGAGGACGGGGAGTTCTGG	0.632000													11	24					1.05317e-09	1.65305e-09	0.119110	1	0
FCGR2A	2212	broad.mit.edu	37	1	161479613	161479613	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:161479613G>A	ENST00000271450.6	+	4	406	c.368G>A	c.(367-369)tGg>tAg	p.W123*	FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Nonsense_Mutation_p.W122*	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	123	Ig-like C2-type 2.					integral to membrane|plasma membrane	IgG binding|receptor activity	p.W122*(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTTTCAGAATGGCTGGTGCTC	0.468000													35	64					0	0	0.203993	0	0
PARD3B	117583	broad.mit.edu	37	2	206364738	206364738	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:206364738G>T	ENST00000406610.2	+	21	3370	c.3163G>T	c.(3163-3165)Gag>Tag	p.E1055*	PARD3B_ENST00000349953.3_Nonsense_Mutation_p.E954*|PARD3B_ENST00000351153.1_Nonsense_Mutation_p.E986*|PARD3B_ENST00000358768.2_Nonsense_Mutation_p.E993*|PARD3B_ENST00000488622.1_3'UTR	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1055					cell cycle|cell division	endomembrane system|tight junction		p.E993*(1)|p.E986*(1)|p.E994*(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAGGCCATCTGAGTATGACCT	0.438000													18	93					1.55795e-14	2.6997e-14	0.234183	1	0
OTOF	9381	broad.mit.edu	37	2	26699016	26699016	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:26699016G>T	ENST00000272371.2	-	23	2972	c.2846C>A	c.(2845-2847)cCc>cAc	p.P949H	OTOF_ENST00000339598.3_Missense_Mutation_p.P202H|OTOF_ENST00000402415.3_Missense_Mutation_p.P259H|OTOF_ENST00000338581.6_Missense_Mutation_p.P202H|OTOF_ENST00000403946.3_Missense_Mutation_p.P949H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	949	C2 3.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.P949H(1)|p.P202H(1)|p.P259H(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGCTGACGGGTGGGAAGGC	0.672000													8	21					5.18039e-06	6.86659e-06	0.038147	1	0
CSMD3	114788	broad.mit.edu	37	8	113353818	113353818	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:113353818C>A	ENST00000297405.5	-	42	6784	c.6540G>T	c.(6538-6540)cgG>cgT	p.R2180R	CSMD3_ENST00000343508.3_Silent_p.R2140R|CSMD3_ENST00000455883.2_Silent_p.R2076R|CSMD3_ENST00000352409.3_Silent_p.R2110R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2180	CUB 12.					integral to membrane|plasma membrane		p.R2140R(1)|p.R2180R(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GACCACTAAGCCGGCCAATAA	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	41					2.23348e-06	3.01222e-06	0.146539	1	0
NUTF2	10204	broad.mit.edu	37	16	67899124	67899124	+	Missense_Mutation	SNP	G	G	C	rs146730920		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:67899124G>C	ENST00000219169.4	+	2	374	c.91G>C	c.(91-93)Gca>Cca	p.A31P	NUTF2_ENST00000568396.2_Missense_Mutation_p.A31P|NUTF2_ENST00000569436.2_Missense_Mutation_p.A31P	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	31	NTF2.				protein transport	cytosol|nuclear pore	protein binding|transporter activity	p.A31P(1)		kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		CCAACTAGGCGCAATTTACGT	0.468000													9	30					0	0	0.058154	0	0
PABPC5	140886	broad.mit.edu	37	X	90691715	90691715	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:90691715G>C	ENST00000312600.3	+	2	1353	c.1139G>C	c.(1138-1140)cGc>cCc	p.R380P	PABPC5_ENST00000373105.1_Missense_Mutation_p.R216P	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	380						cytoplasm	nucleotide binding|RNA binding	p.R380P(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						CAGGCCAGGCGCAGGTGCTGA	0.498000													5	12					0	0	0.217242	0	0
ABCB11	8647	broad.mit.edu	37	2	169781254	169781254	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:169781254G>T	ENST00000263817.6	-	27	3802	c.3678C>A	c.(3676-3678)cgC>cgA	p.R1226R		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1226	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	p.R1226R(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CAATAGCAATGCGTTGTTTCT	0.398000													7	55					0.00198382	0.00218175	0.029380	1	0
OR5F1	338674	broad.mit.edu	37	11	55761413	55761413	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:55761413G>T	ENST00000278409.1	-	1	688	c.689C>A	c.(688-690)tCg>tAg	p.S230*		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S230L(1)|p.S230*(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CCCCTCCCCCGAATGCATAGA	0.478000													8	20					5.18039e-06	6.86659e-06	0.038147	1	0
CYP2B7P	1556	broad.mit.edu	37	19	41455134	41455134	+	RNA	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:41455134C>T	ENST00000599198.1	+	0	1525					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						CTTCCTGCCCCGCTGAAGGGG	0.582000													7	13					0	0	0.038147	0	0
KCNN3	3782	broad.mit.edu	37	1	154744567	154744567	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:154744567G>T	ENST00000271915.3	-	3	1647	c.1332C>A	c.(1330-1332)aaC>aaA	p.N444K	KCNN3_ENST00000358505.2_Missense_Mutation_p.N131K|KCNN3_ENST00000361147.4_Missense_Mutation_p.N139K	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	449						integral to membrane	calmodulin binding	p.N139K(1)|p.N444K(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGGTGTTGAAGTTGATCTTGT	0.577000													12	53					5.50884e-06	7.22357e-06	0.093190	1	0
BASP1	10409	broad.mit.edu	37	5	17275961	17275961	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:17275961G>T	ENST00000322611.3	+	2	896	c.636G>T	c.(634-636)gtG>gtT	p.V212V		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	212					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	p.V212V(1)		endometrium(1)|lung(8)	9						CCAAGCCGGTGGAGGCCCCGG	0.582000													5	26					8.12818e-05	9.85601e-05	0.029380	1	0
KIAA0232	9778	broad.mit.edu	37	4	6863811	6863811	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:6863811A>G	ENST00000307659.5	+	7	2157	c.1702A>G	c.(1702-1704)Aca>Gca	p.T568A	KIAA0232_ENST00000425103.1_Missense_Mutation_p.T568A	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	568							ATP binding	p.T568A(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TGCAATATGGACAGATTCTAC	0.478000													20	90					0	0	0.204396	0	0
ZNF572	137209	broad.mit.edu	37	8	125988958	125988958	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:125988958C>T	ENST00000319286.5	+	3	602	c.448C>T	c.(448-450)Cac>Tac	p.H150Y		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H150Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTTGCGTACTCACCAGAGGAC	0.413000										HNSCC(60;0.17)			9	44					0	0	0.080935	0	0
SLC35B1	10237	broad.mit.edu	37	17	47781515	47781515	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:47781515G>A	ENST00000240333.6	-	6	723	c.602C>T	c.(601-603)tCc>tTc	p.S201F	SLC35B1_ENST00000415270.2_Missense_Mutation_p.S238F			P78383	S35B1_HUMAN	solute carrier family 35, member B1	201						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity	p.S201F(1)		endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						CATGTGGTTGGAGCCTGTTTG	0.537000													11	41					0	0	0.080935	0	0
STXBP1	6812	broad.mit.edu	37	9	130432211	130432211	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:130432211A>T	ENST00000373302.3	+	11	1076	c.937A>T	c.(937-939)Agc>Tgc	p.S313C	STXBP1_ENST00000373299.1_Missense_Mutation_p.S313C	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	313					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	p.S313C(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TTTTTCTTCTAGCAAGAGAAT	0.463000													28	112					0	0	0.173368	0	0
AASDHPPT	60496	broad.mit.edu	37	11	105967474	105967474	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:105967474C>T	ENST00000278618.4	+	6	992	c.770C>T	c.(769-771)cCa>cTa	p.P257L	RP11-677I18.3_ENST00000527594.1_RNA|RP11-677I18.3_ENST00000532422.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	257					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding	p.P257L(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		TTTTAGGTTCCATCTCAGGAT	0.333000													9	53					0	0	0.047766	0	0
SLC12A5	57468	broad.mit.edu	37	20	44671910	44671910	+	Silent	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:44671910T>C	ENST00000454036.1	+	9	1330	c.1254T>C	c.(1252-1254)gaT>gaC	p.D418D	SLC12A5_ENST00000243964.3_Silent_p.D395D|SLC12A5_ENST00000539566.1_Intron	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	418					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.D395D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCTTCAGTGATATGACCTCCT	0.572000													51	180					0	0	0.139131	0	0
RYR1	6261	broad.mit.edu	37	19	38966066	38966066	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:38966066C>A	ENST00000355481.4	+	29	4400	c.4269C>A	c.(4267-4269)ccC>ccA	p.P1423P	RYR1_ENST00000359596.3_Silent_p.P1423P|RYR1_ENST00000360985.3_Silent_p.P1423P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1423	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.P1423P(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCGATGACCCCGAGATCATCC	0.592000													4	18					0.217242	0.219337	0.217242	1	0
APOB	338	broad.mit.edu	37	2	21234459	21234459	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:21234459C>T	ENST00000233242.1	-	26	5408	c.5281G>A	c.(5281-5283)Ggc>Agc	p.G1761S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1761					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.G1761S(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGTGATAAGCCTGCAATGTTC	0.388000													25	99					0	0	0.108266	0	0
TLN2	83660	broad.mit.edu	37	15	63063229	63063229	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:63063229C>G	ENST00000561311.1	+	41	5493	c.5263C>G	c.(5263-5265)Ctt>Gtt	p.L1755V	TLN2_ENST00000472902.1_Missense_Mutation_p.L148V|TLN2_ENST00000306829.6_Missense_Mutation_p.L1755V			Q9Y4G6	TLN2_HUMAN	talin 2	1755					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.L1755V(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CTCCAAGATTCTTGATCATCA	0.478000													21	47					0	0	0.076483	0	0
CDH17	1015	broad.mit.edu	37	8	95201473	95201473	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:95201473A>T	ENST00000027335.3	-	3	216	c.92T>A	c.(91-93)cTg>cAg	p.L31Q	CDH17_ENST00000441892.2_Missense_Mutation_p.L31Q|CDH17_ENST00000450165.2_Missense_Mutation_p.L31Q	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	31	Cadherin 1.					integral to membrane	calcium ion binding	p.L31Q(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATGGGTTTCAGGGGTCCACT	0.393000													14	50					0	0	0.132662	0	0
KCNG1	3755	broad.mit.edu	37	20	49626751	49626751	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:49626751C>T	ENST00000371571.4	-	2	410	c.125G>A	c.(124-126)cGg>cAg	p.R42Q	KCNG1_ENST00000396017.3_Missense_Mutation_p.R42Q	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	42						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R42Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCGCTGCGCCCGGCGGTAGAA	0.692000													11	27					0	0	0.080935	0	0
S1PR4	8698	broad.mit.edu	37	19	3179494	3179494	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:3179494A>G	ENST00000246115.3	+	1	759	c.704A>G	c.(703-705)cAg>cGg	p.Q235R	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	235					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.Q235R(2)		breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GCCAGCGGGCAGAAGGCCCCA	0.677000													22	32					0	0	0.091800	0	0
CD1D	912	broad.mit.edu	37	1	158152753	158152753	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158152753A>T	ENST00000368171.3	+	5	1192	c.693A>T	c.(691-693)ccA>ccT	p.P231P		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	231	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.P231P(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GATTCTACCCAAAGCCTGTAT	0.612000													13	94					0	0	0.093190	0	0
DAB2IP	153090	broad.mit.edu	37	9	124544764	124544764	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:124544764G>A	ENST00000408936.3	+	16	3739	c.3557G>A	c.(3556-3558)aGc>aAc	p.S1186N	DAB2IP_ENST00000259371.2_Intron|DAB2IP_ENST00000309989.1_Missense_Mutation_p.S1062N			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	1186					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	p.S1062N(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TTCAGAAACAGCAGCAATTGT	0.582000													15	52					0	0	0.146539	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209951493	209951493	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:209951493G>A	ENST00000367024.1	+	13	1743	c.1227G>A	c.(1225-1227)ctG>ctA	p.L409L	TRAF3IP3_ENST00000400959.3_Silent_p.L389L|TRAF3IP3_ENST00000367023.1_Silent_p.L145L|TRAF3IP3_ENST00000010338.4_Silent_p.L389L|TRAF3IP3_ENST00000367025.3_Silent_p.L409L|TRAF3IP3_ENST00000367026.3_Silent_p.L389L|TRAF3IP3_ENST00000477431.1_Intron			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	409						integral to membrane	protein binding	p.L389L(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AACTCACCCTGGTGACCAGAG	0.458000													5	33					0	0	0.184627	0	0
SF3B2	10992	broad.mit.edu	37	11	65823007	65823007	+	Splice_Site	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:65823007A>C	ENST00000322535.6	+	5	549	c.498_splice	c.e5-1	p.Q167_splice	SF3B2_ENST00000528302.1_Intron	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	167					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	p.Q167P(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TTTTTTAAGCAGGGAGATCAT	0.502000													4	34					0	0	0.150653	0	0
LRFN5	145581	broad.mit.edu	37	14	42356335	42356335	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:42356335G>A	ENST00000554171.1	+	5	2939	c.507G>A	c.(505-507)aaG>aaA	p.K169K	LRFN5_ENST00000298119.4_Silent_p.K169K|LRFN5_ENST00000554120.1_Silent_p.K169K			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	169						integral to membrane		p.K169K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGTTGAGAAGATGGTTAGCT	0.418000										HNSCC(30;0.082)			4	48					0	0	0.150653	0	0
GRIN2A	2903	broad.mit.edu	37	16	9934799	9934799	+	Silent	SNP	G	G	T	rs146157761		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:9934799G>T	ENST00000396573.2	-	7	1800	c.1491C>A	c.(1489-1491)atC>atA	p.I497I	GRIN2A_ENST00000396575.2_Silent_p.I497I|GRIN2A_ENST00000330684.3_Silent_p.I497I|GRIN2A_ENST00000404927.2_Silent_p.I497I|GRIN2A_ENST00000535259.1_Silent_p.I340I|GRIN2A_ENST00000562109.1_Silent_p.I497I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	497					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.I497I(2)		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)	TTACTTCACCGATCATTCCAT	0.428000													16	67					5.03518e-11	8.21088e-11	0.189662	1	0
ANGPTL5	253935	broad.mit.edu	37	11	101762183	101762183	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:101762183C>G	ENST00000334289.3	-	9	1589	c.994G>C	c.(994-996)Ggc>Cgc	p.G332R		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	332	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding	p.G332R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		AACCACCAGCCGGTCTTGTTA	0.478000													20	71					0	0	0.234183	0	0
GTF3C1	2975	broad.mit.edu	37	16	27512582	27512582	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:27512582C>A	ENST00000356183.4	-	12	2006	c.1991G>T	c.(1990-1992)cGg>cTg	p.R664L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R664L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	664						transcription factor TFIIIC complex	DNA binding|protein binding	p.R664L(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGACAGGTTCCGCACCAAGCG	0.522000													9	61					0.00621372	0.00666372	0.058154	1	0
PRKCG	5582	broad.mit.edu	37	19	54403579	54403579	+	Splice_Site	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:54403579G>A	ENST00000263431.3	+	12	1655		c.e12+1		PRKCG_ENST00000542049.1_Splice_Site|PRKCG_ENST00000540413.1_Splice_Site	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma						activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.?(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCCATGCAGCGTGAGTCTCGG	0.597000													15	28					0	0	0.119110	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769600	31769600	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:31769600C>A	ENST00000240587.4	-	2	1426	c.1099G>T	c.(1099-1101)Ggc>Tgc	p.G367C		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	367					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G184S(2)|p.G367S(2)|p.Y366_G367>*(1)|p.Y183_G184>*(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTCTGGTGGCCGTACCGATTA	0.557000													65	118					1.34568e-36	2.57541e-36	0.139131	1	0
IFT52	51098	broad.mit.edu	37	20	42242616	42242616	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:42242616G>T	ENST00000373030.3	+	7	742	c.612_splice	c.e7+1	p.K204_splice	IFT52_ENST00000373039.4_Splice_Site_p.K204_splice	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	204						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	p.K204N(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ATCACTCAAAGGTACAGCTTT	0.388000													12	47					4.93089e-13	8.35686e-13	0.119110	1	0
ASTL	431705	broad.mit.edu	37	2	96795703	96795703	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:96795703C>A	ENST00000342380.2	-	8	733	c.734G>T	c.(733-735)cGg>cTg	p.R245L		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	245					proteolysis		metalloendopeptidase activity|zinc ion binding	p.R245L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CAGCCCACGCCGGCTGAAGGC	0.652000													13	38					4.3838e-07	6.16761e-07	0.105934	1	0
PEG3	5178	broad.mit.edu	37	19	57335796	57335796	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:57335796C>A	ENST00000326441.9	-	4	591	c.228G>T	c.(226-228)caG>caT	p.Q76H	PEG3_ENST00000598410.1_Splice_Site|ZIM2_ENST00000221722.5_Splice_Site|PEG3_ENST00000593695.1_Splice_Site|ZIM2_ENST00000593711.1_Splice_Site|PEG3_ENST00000423103.2_Missense_Mutation_p.Q76H|ZIM2_ENST00000391708.3_5'UTR|PEG3_ENST00000594706.1_Splice_Site|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000601070.1_Splice_Site	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	76	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q76H(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGGTCTCCGGCTGCAACCAAT	0.507000													42	52					2.00842e-17	3.64399e-17	0.117977	1	0
TMEM132D	121256	broad.mit.edu	37	12	130184738	130184738	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:130184738C>A	ENST00000422113.2	-	2	911	c.585G>T	c.(583-585)gaG>gaT	p.E195D		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	195						integral to membrane		p.E195D(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGAGCTCCAGCTCGGCCACGC	0.692000													9	26					3.86212e-05	4.79819e-05	0.069234	1	0
POLR3A	11128	broad.mit.edu	37	10	79743987	79743987	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:79743987T>A	ENST00000372371.3	-	25	3449	c.3312A>T	c.(3310-3312)agA>agT	p.R1104S		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1104					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.R1104S(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TTTTCTCAATTCTCCCTTTCA	0.438000													9	71					0	0	0.058154	0	0
SPEF2	79925	broad.mit.edu	37	5	35659183	35659183	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:35659183G>T	ENST00000440995.2	+	8	1041	c.1041G>T	c.(1039-1041)agG>agT	p.R347S	SPEF2_ENST00000356031.3_Missense_Mutation_p.R347S|SPEF2_ENST00000282469.6_Missense_Mutation_p.R347S|SPEF2_ENST00000509059.1_Missense_Mutation_p.R347S			Q9C093	SPEF2_HUMAN	sperm flagellar 2	347					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.R347S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGAGCGCAGGATTGCCGTGC	0.458000													7	32					0.0381472	0.0396061	0.038147	1	0
SORBS1	10580	broad.mit.edu	37	10	97174272	97174272	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:97174272G>A	ENST00000371247.2	-	9	978	c.789C>T	c.(787-789)ctC>ctT	p.L263L	SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000361941.3_Silent_p.L263L|SORBS1_ENST00000277982.5_Silent_p.L263L|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371249.2_Silent_p.L231L|SORBS1_ENST00000371246.2_Silent_p.L263L|SORBS1_ENST00000353505.5_Silent_p.L194L|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000393949.1_Silent_p.L254L|SORBS1_ENST00000371245.3_Silent_p.L194L|SORBS1_ENST00000354106.3_Silent_p.L254L|SORBS1_ENST00000371227.4_Silent_p.L263L|SORBS1_ENST00000371241.1_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	263					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	p.L263L(1)|p.L194L(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CAGCTCCCGTGAGGTCAGGCT	0.602000													6	27					0	0	0.217242	0	0
ADCY10	55811	broad.mit.edu	37	1	167793718	167793718	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:167793718T>A	ENST00000367848.1	-	28	4269	c.3772A>T	c.(3772-3774)Agc>Tgc	p.S1258C	ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.S1350C|ADCY10_ENST00000545172.1_Missense_Mutation_p.S1197C			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1350					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.S1350C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATACCTGCTGTTCAGAAGG	0.493000													21	148					0	0	0.083992	0	0
ACTL9	284382	broad.mit.edu	37	19	8808127	8808127	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:8808127C>A	ENST00000324436.3	-	1	1045	c.925G>T	c.(925-927)Ggg>Tgg	p.G309W		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	309						cytoplasm|cytoskeleton		p.G309W(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GGTGACAGCCCCGGGACCTCT	0.642000													15	43					1.02788e-11	1.70461e-11	0.160694	1	0
PCDHB8	56128	broad.mit.edu	37	5	140559032	140559032	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140559032A>C	ENST00000239444.2	+	1	1662	c.1417A>C	c.(1417-1419)Agc>Cgc	p.S473R		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		473	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S473R(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACATCGGCAGCGTCAGCGC	0.667000													29	252					0	0	0.193644	0	0
PLEK	5341	broad.mit.edu	37	2	68607577	68607577	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:68607577A>T	ENST00000234313.7	+	2	339	c.160A>T	c.(160-162)Act>Tct	p.T54S		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	54	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	p.T54S(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GAAAGGGAGCACTCTGACTAG	0.463000													4	40					0	0	0.150653	0	0
VSNL1	7447	broad.mit.edu	37	2	17836575	17836575	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:17836575G>A	ENST00000406397.1	+	4	1015	c.490G>A	c.(490-492)Gac>Aac	p.D164N	VSNL1_ENST00000404666.2_Missense_Mutation_p.D164N|VSNL1_ENST00000295156.4_Missense_Mutation_p.D164N			P62760	VISL1_HUMAN	visinin-like 1	164	EF-hand 4.						calcium ion binding	p.D164N(1)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAACAAAGATGACCAGATTAC	0.438000													14	43					0	0	0.119110	0	0
SERPING1	710	broad.mit.edu	37	11	57367360	57367360	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:57367360C>A	ENST00000403558.1	+	2	528	c.162C>A	c.(160-162)gcC>gcA	p.A54A	SERPING1_ENST00000378323.4_Silent_p.A25A|SERPING1_ENST00000378324.2_5'UTR|SERPING1_ENST00000340687.6_Silent_p.A20A|SERPING1_ENST00000278407.4_Silent_p.A20A	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	20					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	p.A20A(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						AGGATAGAGCCTCCTCAAATC	0.468000													9	45					7.48243e-07	1.03974e-06	0.058154	1	0
ZFHX4	79776	broad.mit.edu	37	8	77764421	77764421	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:77764421G>T	ENST00000521891.2	+	10	5712	c.5264G>T	c.(5263-5265)gGc>gTc	p.G1755V	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G1710V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G1729V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G1710V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1710	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G1755V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAGATTTGGGCTTGCCAGGC	0.507000										HNSCC(33;0.089)			6	25					2.0095e-06	2.71264e-06	0.029380	1	0
SNHG14	104472715	broad.mit.edu	37	15	25327915	25327915	+	RNA	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:25327915G>T	ENST00000546682.1	+	0	188				SNHG14_ENST00000549804.2_RNA|SNORD116-16_ENST00000384533.1_RNA	NR_003361.1																						GACTGTGCATGGATCGATGAT	0.458000													39	80					1.59361e-14	2.75824e-14	0.246493	1	0
SOWAHB	345079	broad.mit.edu	37	4	77817745	77817745	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:77817745C>T	ENST00000334306.2	-	1	1257	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	420								p.E420K(1)									AGCCCCTCTTCAGAAGCCCCC	0.602000													13	75					0	0	0.132662	0	0
OR6T1	219874	broad.mit.edu	37	11	123814154	123814154	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:123814154C>A	ENST00000321252.2	-	1	426	c.392G>T	c.(391-393)cGc>cTc	p.R131L		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R131L(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GGTCTCATAGCGGAGTGGTCG	0.547000													5	13					1.024e-07	1.48927e-07	0.184627	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33643550	33643550	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:33643550G>T	ENST00000504830.1	-	10	1840	c.1505C>A	c.(1504-1506)tCc>tAc	p.S502Y	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S502Y	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	502	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S502Y(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCCCTTCACGGAGCACCACAG	0.463000										HNSCC(64;0.19)			12	44					1.08611e-07	1.56562e-07	0.080935	1	0
OR52L1	338751	broad.mit.edu	37	11	6008099	6008099	+	Nonsense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:6008099G>C	ENST00000332249.4	-	1	116	c.62C>G	c.(61-63)tCa>tGa	p.S21*		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S6*(1)|p.S21*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCCAGCTTGAATTGCTAAG	0.453000													7	21					0	0	0.029380	0	0
PDE8B	8622	broad.mit.edu	37	5	76627258	76627258	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:76627258C>A	ENST00000264917.5	+	5	727	c.682C>A	c.(682-684)Cct>Act	p.P228T	PDE8B_ENST00000346042.3_Missense_Mutation_p.P228T|PDE8B_ENST00000333194.4_Missense_Mutation_p.P228T|PDE8B_ENST00000340978.3_Missense_Mutation_p.P228T|PDE8B_ENST00000342343.4_Missense_Mutation_p.P208T	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	228					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.P228T(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GTCAGTCCTTCCTCTTCTCCA	0.498000													35	67					1.90571e-15	3.36599e-15	0.203993	1	0
HDAC9	9734	broad.mit.edu	37	7	18788727	18788727	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:18788727G>T	ENST00000406451.3	+	14	2150	c.2000G>T	c.(1999-2001)cGa>cTa	p.R667L	HDAC9_ENST00000432645.2_Missense_Mutation_p.R667L|HDAC9_ENST00000401921.1_Missense_Mutation_p.R626L|HDAC9_ENST00000441542.2_Missense_Mutation_p.R670L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	667	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.R670L(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATCTGGTCACGACTGCAAGAA	0.438000													4	10					0.150653	0.15348	0.150653	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553578	140553578	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140553578G>T	ENST00000231137.3	+	1	1336	c.1162G>T	c.(1162-1164)Gat>Tat	p.D388Y		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		388	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D388Y(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCCAGGACGATGTCCCCTT	0.468000													6	27					0.00198382	0.00218175	0.029380	1	0
GNG3	2785	broad.mit.edu	37	11	62476249	62476249	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62476249G>T	ENST00000294117.5	+	3	458	c.199G>T	c.(199-201)Gag>Tag	p.E67*	BSCL2_ENST00000433053.1_Intron|RP11-831H9.16_ENST00000403734.2_Intron|BSCL2_ENST00000405837.1_Intron	NM_012202.4	NP_036334.1	P63215	GBG3_HUMAN	guanine nucleotide binding protein (G protein), gamma 3	67					activation of MAPK activity|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission		GTPase activity|signal transducer activity	p.E67*(1)		kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						CCCCTTCCGGGAGAAGAAGTT	0.567000													11	53					1.61879e-10	2.60214e-10	0.093190	1	0
P2RX4	5025	broad.mit.edu	37	12	121660769	121660769	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:121660769C>T	ENST00000337233.4	+	5	755	c.447C>T	c.(445-447)tgC>tgT	p.C149C	P2RX4_ENST00000543171.1_Silent_p.C48C|P2RX4_ENST00000359949.7_Silent_p.C165C|P2RX4_ENST00000540930.1_Intron|P2RX4_ENST00000541532.1_Intron	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	149					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding	p.C149C(1)		breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGGCAGGTGCGTAGCTTTCA	0.582000													4	21					0	0	0.150653	0	0
MTMR12	54545	broad.mit.edu	37	5	32248925	32248925	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:32248925T>A	ENST00000382142.3	-	9	1019	c.849A>T	c.(847-849)aaA>aaT	p.K283N	MTMR12_ENST00000264934.5_Missense_Mutation_p.K283N|MTMR12_ENST00000280285.5_Missense_Mutation_p.K283N	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	283	Myotubularin phosphatase.					cytoplasm	phosphatase activity	p.K283N(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CATCCTGTTCTTTGGGCAGTG	0.388000													32	94					0	0	0.214465	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31126008	31126008	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:31126008A>T	ENST00000304166.4	+	10	969	c.680A>T	c.(679-681)aAg>aTg	p.K227M	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.K227M|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.K206M|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.K227M	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	227					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	p.K227M(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTGGAATGTAAGGCCGTCATG	0.567000													8	23					0	0	0.047766	0	0
YBX3	8531	broad.mit.edu	37	12	10871718	10871718	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:10871718T>C	ENST00000228251.4	-	2	487	c.287A>G	c.(286-288)aAa>aGa	p.K96R	YBX3_ENST00000279550.7_Missense_Mutation_p.K96R	NM_003651.4	NP_003642.3			Y box binding protein 3									p.K96R(1)									GTTGAACCATTTGACAGTGCC	0.348000													12	36					0	0	0.119110	0	0
NAV3	89795	broad.mit.edu	37	12	78515894	78515894	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:78515894C>A	ENST00000397909.2	+	16	4097	c.3924C>A	c.(3922-3924)agC>agA	p.S1308R	NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Missense_Mutation_p.S1308R|NAV3_ENST00000228327.6_Missense_Mutation_p.S1308R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1308	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S1308R(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						GCGGCAGCAGCAGCCCTCTCT	0.557000										HNSCC(70;0.22)			6	35					0.00307968	0.00335674	0.038147	1	0
BTBD11	121551	broad.mit.edu	37	12	108012033	108012033	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:108012033C>G	ENST00000280758.5	+	10	2858	c.2330C>G	c.(2329-2331)aCa>aGa	p.T777R	BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000357167.4_Missense_Mutation_p.T314R|BTBD11_ENST00000490090.2_Missense_Mutation_p.T777R	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	777						integral to membrane	DNA binding	p.T777R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTGGCGGAGACAGCCCCGCCC	0.617000													5	21					0	0	0.217242	0	0
DUSP10	11221	broad.mit.edu	37	1	221912792	221912792	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:221912792C>A	ENST00000366899.3	-	2	533	c.295G>T	c.(295-297)Gct>Tct	p.A99S	DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	99					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.A99S(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GTGGTGCCAGCGGCAATGGCT	0.562000													11	23					7.03913e-09	1.06605e-08	0.093190	1	0
ACE	1636	broad.mit.edu	37	17	61571364	61571364	+	Missense_Mutation	SNP	G	G	T	rs141139841		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:61571364G>T	ENST00000577647.1	+	10	1541	c.1496G>T	c.(1495-1497)cGc>cTc	p.R499L	ACE_ENST00000421982.2_Missense_Mutation_p.R319L|ACE_ENST00000290863.6_Missense_Mutation_p.R499L|ACE_ENST00000428043.1_Missense_Mutation_p.R1073L|ACE_ENST00000290866.4_Missense_Mutation_p.R1073L|ACE_ENST00000413513.3_Missense_Mutation_p.R499L|ACE_ENST00000490216.2_Missense_Mutation_p.R499L			P12821	ACE_HUMAN	angiotensin I converting enzyme	1073	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	p.R499L(1)|p.R1073L(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GATCAGTGGCGCTGGAGGGTA	0.547000													3	20					1.23904e-05	1.58364e-05	0.184627	1	0
CRB1	23418	broad.mit.edu	37	1	197404326	197404326	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:197404326A>C	ENST00000367397.1	+	5	2334	c.1476A>C	c.(1474-1476)gaA>gaC	p.E492D	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.E592D|CRB1_ENST00000367399.2_Missense_Mutation_p.E999D|CRB1_ENST00000535699.1_Missense_Mutation_p.E1087D|CRB1_ENST00000367400.3_Missense_Mutation_p.E1111D			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1111	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.E1111D(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTTACTTTGAAAATGTTCATG	0.378000													13	78					0	0	0.093190	0	0
MROH8	140699	broad.mit.edu	37	20	35740727	35740727	+	Splice_Site	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:35740727A>G	ENST00000400441.3	-	21	2813	c.2814_splice	c.e21+1	p.F938_splice	MROH8_ENST00000441008.2_Splice_Site_p.F924_splice|MROH8_ENST00000217333.8_Splice_Site_p.F767_splice					maestro heat-like repeat family member 8									p.F965S(2)|p.F938F(1)									GCTCACATACAAAGAATCTGC	0.418000													10	55					0	0	0.105934	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33649028	33649028	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:33649028C>A	ENST00000504830.1	-	9	1713	c.1378G>T	c.(1378-1380)Ggc>Tgc	p.G460C	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G460C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	460					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G460C(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GACTTCAAGCCTTTCTTTTTA	0.468000										HNSCC(64;0.19)			17	54					9.95505e-16	1.77328e-15	0.069288	1	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316515	39316515	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:39316515G>T	ENST00000390661.3	-	1	468	c.429C>A	c.(427-429)acC>acA	p.T143T		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	143	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament		p.T143T(1)		kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGCAGCAGGTGGTTCTGCAGC	0.632000													11	36					0.000673444	0.000759438	0.069234	1	0
CFH	3075	broad.mit.edu	37	1	196711029	196711029	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:196711029G>T	ENST00000367429.4	+	19	3221	c.2981G>T	c.(2980-2982)aGc>aTc	p.S994I		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	994	Sushi 17.				complement activation, alternative pathway	extracellular space		p.S994I(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGTTTACCTAGCTTTGAAAAT	0.363000													11	42					3.86212e-05	4.79819e-05	0.069234	1	0
XIRP2	129446	broad.mit.edu	37	2	168101996	168101996	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:168101996C>T	ENST00000409195.1	+	9	4183	c.4094C>T	c.(4093-4095)tCa>tTa	p.S1365L	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1365L|XIRP2_ENST00000409273.1_Missense_Mutation_p.S1143L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1190					actin cytoskeleton organization	cell junction	actin binding	p.S1365L(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						ATTAATAAATCAGAAACTGTG	0.373000													5	39					0	0	0.184627	0	0
AEN	64782	broad.mit.edu	37	15	89169735	89169735	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:89169735C>T	ENST00000332810.3	+	2	446	c.295C>T	c.(295-297)Ccc>Tcc	p.P99S	AEN_ENST00000379231.3_Missense_Mutation_p.P99S	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	99					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding	p.P99S(1)		NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						AAGGCCTGCTCCCGGGAAAGC	0.657000													24	17					0	0	0.099896	0	0
MYO1B	4430	broad.mit.edu	37	2	192288625	192288625	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:192288625A>C	ENST00000392318.3	+	31	3597	c.3350A>C	c.(3349-3351)aAt>aCt	p.N1117T	MYO1B_ENST00000304164.4_Missense_Mutation_p.N1117T|MYO1B_ENST00000439065.2_Missense_Mutation_p.N362T|MYO1B_ENST00000392316.1_Missense_Mutation_p.N1088T|MYO1B_ENST00000339514.4_Missense_Mutation_p.N1059T	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	1117						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.N1117T(1)|p.N1059T(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AACCAGAAAAATGGGAGTGTC	0.403000													16	109					0	0	0.146539	0	0
FAM135B	51059	broad.mit.edu	37	8	139163634	139163634	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:139163634C>A	ENST00000395297.1	-	13	3254	c.3084G>T	c.(3082-3084)gtG>gtT	p.V1028V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1028								p.V1028V(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCACAACCTCCACAGCCTTCA	0.527000										HNSCC(54;0.14)			4	25					1.23904e-05	1.58364e-05	0.184627	1	0
FERMT1	55612	broad.mit.edu	37	20	6096636	6096636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:6096636C>T	ENST00000217289.4	-	3	995	c.207G>A	c.(205-207)tgG>tgA	p.W69*	FERMT1_ENST00000536936.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	69					cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	p.W69*(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TTTTCAGAAGCCAGCAATGCT	0.483000													6	25					0	0	0.217242	0	0
ITIH5	80760	broad.mit.edu	37	10	7659155	7659155	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:7659155C>A	ENST00000256861.6	-	6	821	c.743G>T	c.(742-744)aGg>aTg	p.R248M	ITIH5_ENST00000397145.2_Missense_Mutation_p.R248M|ITIH5_ENST00000446830.2_Missense_Mutation_p.R30M|ITIH5_ENST00000397146.2_Missense_Mutation_p.R248M|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.R34M	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	248					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.R248M(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTGGGCAATCCTGGCTTGTTG	0.403000													16	74					2.32078e-09	3.58889e-09	0.132662	1	0
F11	2160	broad.mit.edu	37	4	187192858	187192858	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:187192858A>C	ENST00000264692.4	+	3	484	c.151A>C	c.(151-153)Act>Cct	p.T51P	F11_ENST00000403665.2_Missense_Mutation_p.T51P|F11_ENST00000492972.2_Missense_Mutation_p.T51P			P03951	FA11_HUMAN	coagulation factor XI	51	Apple 1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	p.T51P(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GGTAGTCTGCACTTACCACCC	0.488000													11	59					0	0	0.080935	0	0
TFRC	7037	broad.mit.edu	37	3	195792371	195792371	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:195792371G>T	ENST00000360110.4	-	10	1310	c.1141C>A	c.(1141-1143)Ctg>Atg	p.L381M	TFRC_ENST00000420415.1_Missense_Mutation_p.L300M|TFRC_ENST00000392396.3_Missense_Mutation_p.L381M|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.L99M	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	381					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	p.L381M(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		ATCTCTTTCAGCACATTGCTC	0.453000			T	BCL6	NHL								5	95					3.59834e-05	4.50483e-05	0.217242	1	0
CUBN	8029	broad.mit.edu	37	10	16955835	16955835	+	Missense_Mutation	SNP	G	G	A	rs140983139	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:16955835G>A	ENST00000377833.4	-	48	7573	c.7508C>T	c.(7507-7509)cCg>cTg	p.P2503L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2503	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.P2503L(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTGCAGGACGGATGCGTGGC	0.493000													29	67					0	0	0.193644	0	0
SHROOM3	57619	broad.mit.edu	37	4	77675466	77675466	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:77675466C>T	ENST00000296043.6	+	7	4783	c.3830C>T	c.(3829-3831)tCa>tTa	p.S1277L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1277					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	p.S1276L(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CGTTCCAGGTCACTCAGTTGT	0.512000													4	165					0	0	0.150653	0	0
EPHA3	2042	broad.mit.edu	37	3	89521734	89521734	+	Nonsense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:89521734C>G	ENST00000336596.2	+	16	3036	c.2811C>G	c.(2809-2811)taC>taG	p.Y937*	EPHA3_ENST00000494014.1_Intron	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	937	SAM.					extracellular region|integral to plasma membrane	ATP binding	p.Y937*(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)		GTGTGGAGTACAGTTCTTGTG	0.408000										TSP Lung(6;0.00050)			16	50					0	0	0.132662	0	0
IGHV4-31	28396	broad.mit.edu	37	14	106805314	106805314	+	RNA	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:106805314G>T	ENST00000438142.2	-	0	320																											GACTCTTGAGGGACGGGTTGT	0.547000													8	133					7.48243e-07	1.03974e-06	0.058154	1	0
FAP	2191	broad.mit.edu	37	2	163059565	163059565	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:163059565T>C	ENST00000188790.4	-	13	1345	c.1138A>G	c.(1138-1140)Atc>Gtc	p.I380V	FAP_ENST00000443424.1_Missense_Mutation_p.I355V	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	380					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.I380V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GTGTCTTTGATATAGTGAATA	0.348000													5	26					0	0	0.184627	0	0
ACE	1636	broad.mit.edu	37	17	61568583	61568583	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:61568583G>A	ENST00000577647.1	+	8	1076	c.1031G>A	c.(1030-1032)aGg>aAg	p.R344K	ACE_ENST00000421982.2_Missense_Mutation_p.R164K|ACE_ENST00000290863.6_Missense_Mutation_p.R344K|ACE_ENST00000428043.1_Missense_Mutation_p.R918K|ACE_ENST00000290866.4_Missense_Mutation_p.R918K|ACE_ENST00000413513.3_Missense_Mutation_p.R344K|ACE_ENST00000490216.2_Missense_Mutation_p.R344K			P12821	ACE_HUMAN	angiotensin I converting enzyme	918	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	p.R344K(1)|p.R918K(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TGGACGCCCAGGAGGATGTTT	0.617000													4	33					0	0	0.184627	0	0
XIST	7503	broad.mit.edu	37	X	73061383	73061383	+	RNA	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:73061383C>T	ENST00000429829.1	-	0	11205					NR_001564.2																						TTTGCTTGAGCAGTTCCATAT	0.393000													15	46					0	0	0.132662	0	0
SLC10A6	345274	broad.mit.edu	37	4	87770178	87770178	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:87770178C>A	ENST00000273905.6	-	1	238	c.91G>T	c.(91-93)Gag>Tag	p.E31*	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	31						integral to membrane|plasma membrane	bile acid:sodium symporter activity	p.E31*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		AAAACGAGCTCCAGGTTTCCA	0.557000													9	38					1.12685e-05	1.45676e-05	0.047766	1	0
CYP2C9	1559	broad.mit.edu	37	10	96748758	96748758	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:96748758C>T	ENST00000260682.6	+	9	1458	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	482					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	p.F482F(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TGCCGCCCTTCTACCAGCTGT	0.498000													11	70					0	0	0.080935	0	0
MAGI2	9863	broad.mit.edu	37	7	78150938	78150938	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:78150938G>T	ENST00000354212.4	-	4	816	c.563C>A	c.(562-564)cCg>cAg	p.P188Q	MAGI2_ENST00000522391.1_Missense_Mutation_p.P188Q|MAGI2_ENST00000536571.1_Missense_Mutation_p.P20Q|MAGI2_ENST00000535697.1_Missense_Mutation_p.P25Q|MAGI2_ENST00000419488.1_Missense_Mutation_p.P188Q|MAGI2_ENST00000517762.1_5'UTR	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	188	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding	p.P188Q(1)|p.P188L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTCTGCTGGCGGCTTTGGGGT	0.393000													30	158					2.47511e-08	3.68376e-08	0.134883	1	0
WDR59	79726	broad.mit.edu	37	16	74951836	74951836	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:74951836C>G	ENST00000262144.6	-	11	1087	c.957G>C	c.(955-957)caG>caC	p.Q319H		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	319								p.Q319H(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CCCTCTGCATCTGGGAATCCA	0.453000													9	54					0	0	0.058154	0	0
MUC16	94025	broad.mit.edu	37	19	9076553	9076553	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:9076553G>T	ENST00000397910.4	-	3	11096	c.10893C>A	c.(10891-10893)ccC>ccA	p.P3631P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3632	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P3631P(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						TACGGCCATGGGGAGTAGACA	0.438000													16	45					0.006122	0.00658464	0.175082	1	0
C9orf85	138241	broad.mit.edu	37	9	74526692	74526692	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:74526692G>A	ENST00000486911.2	+	1	116	c.42G>A	c.(40-42)caG>caA	p.Q14Q	C9orf85_ENST00000334731.2_Silent_p.Q14Q|C9orf85_ENST00000377031.3_Silent_p.Q14Q			Q96MD7	CI085_HUMAN	chromosome 9 open reading frame 85	14								p.Q14Q(2)		kidney(2)|large_intestine(1)|lung(4)	7						CCAGACCTCAGAAGCACCAGA	0.512000													21	135					0	0	0.099896	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47503629	47503629	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:47503629A>G	ENST00000404338.3	+	6	4184	c.4184A>G	c.(4183-4185)aAc>aGc	p.N1395S		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1395	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.N1395S(2)									ACCAGCGAGAACCTCTCCATC	0.562000													64	71					0	0	0.139131	0	0
SNX24	28966	broad.mit.edu	37	5	122337653	122337653	+	Silent	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:122337653T>C	ENST00000261369.4	+	6	581	c.396T>C	c.(394-396)ccT>ccC	p.P132P	SNX24_ENST00000395451.4_Silent_p.P165P|SNX24_ENST00000513881.1_Silent_p.P132P|SNX24_ENST00000506996.1_Silent_p.P132P	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	132					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	p.P132P(1)		lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		CCCACCAGCCTGTGCTGCTGT	0.502000													27	62					0	0	0.134883	0	0
GNAO1	2775	broad.mit.edu	37	16	56374811	56374811	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:56374811G>T	ENST00000262494.7	+	7	1049	c.789G>T	c.(787-789)acG>acT	p.T263T	GNAO1_ENST00000262493.6_Intron	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	263					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	p.T263T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TCACAGACACGTCCATCATCC	0.483000													54	224					8.99859e-20	1.66986e-19	0.139131	1	0
DNAH17	8632	broad.mit.edu	37	17	76435278	76435278	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:76435278A>G	ENST00000389840.5	-	73	11781	c.11657T>C	c.(11656-11658)aTa>aCa	p.I3886T	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.I3895T					dynein, axonemal, heavy chain 17									p.I3895T(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCATTGTCTATGGTAAACCC	0.458000													4	19					0	0	0.184627	0	0
LOC93432	93432	broad.mit.edu	37	7	141896523	141896523	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:141896523C>T	ENST00000477922.3	+	40	4593	c.4539C>T	c.(4537-4539)ttC>ttT	p.F1513F															p.F1513F(1)		endometrium(1)|lung(5)	6						TCTGTGGGTTCTTTGGAGATG	0.463000													3	9					0	0	0.115264	0	0
MUC15	143662	broad.mit.edu	37	11	26586719	26586719	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:26586719G>T	ENST00000436318.2	-	2	901	c.768C>A	c.(766-768)ccC>ccA	p.P256P	ANO3_ENST00000531568.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000455601.2_Silent_p.P229P|MUC15_ENST00000527569.1_Silent_p.P256P|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000281268.8_Silent_p.P256P|MUC15_ENST00000529533.1_Silent_p.P256P			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	229						extracellular region|integral to membrane|plasma membrane		p.P229P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TACCTTTTTGGGGATCTGACG	0.338000													9	42					0.000274275	0.000320388	0.047766	1	0
SH3GL2	6456	broad.mit.edu	37	9	17795576	17795576	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:17795576G>T	ENST00000380607.4	+	9	1014	c.894G>T	c.(892-894)ctG>ctT	p.L298L	SH3GL2_ENST00000537391.1_Silent_p.L251L	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	298	SH3.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	p.L298L(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GCCGAGCTCTGTACGACTTTG	0.458000													6	21					0.0293803	0.0306341	0.029380	1	0
CDH10	1008	broad.mit.edu	37	5	24505268	24505268	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:24505268C>A	ENST00000264463.4	-	8	1853	c.1346G>T	c.(1345-1347)cGt>cTt	p.R449L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	449	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R449L(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)		AGATAGTTCACGGTCAAGAGG	0.328000										HNSCC(23;0.051)			3	54					0.150653	0.15348	0.150653	1	0
SLC38A4	55089	broad.mit.edu	37	12	47186734	47186734	+	Splice_Site	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:47186734A>T	ENST00000447411.1	-	2	326		c.e2+1		SLC38A4_ENST00000266579.4_Splice_Site	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4						cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TTAACCCCATACCTGCTCATT	0.408000													36	146					0	0	0.246493	0	0
BMP1	649	broad.mit.edu	37	8	22065020	22065020	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:22065020C>T	ENST00000306385.5	+	18	3236	c.2566C>T	c.(2566-2568)Cac>Tac	p.H856Y	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	856	CUB 4.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	p.H856Y(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCAGGCCTCCCACGCCACAGG	0.602000													11	27					0	0	0.069234	0	0
IRAK4	51135	broad.mit.edu	37	12	44167770	44167770	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:44167770G>T	ENST00000431837.1	+	5	590	c.282G>T	c.(280-282)atG>atT	p.M94I	IRAK4_ENST00000440781.2_Missense_Mutation_p.M94I|IRAK4_ENST00000448290.2_Missense_Mutation_p.M218I|IRAK4_ENST00000551736.1_Missense_Mutation_p.M218I	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	218	Death.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.M218I(1)				all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TTTTTCAGATGGTTGACATTA	0.358000													3	19					0.004672	0.00503244	0.115264	1	0
LAMA3	3909	broad.mit.edu	37	18	21338419	21338419	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:21338419G>C	ENST00000313654.9	+	7	1248	c.1007G>C	c.(1006-1008)gGg>gCg	p.G336A	LAMA3_ENST00000399516.3_Missense_Mutation_p.G336A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	336	Domain V.|Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.G336A(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCTGCACAGGGTACAATCAG	0.617000													4	21					0	0	0.184627	0	0
BGN	633	broad.mit.edu	37	X	152772618	152772618	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:152772618G>C	ENST00000331595.4	+	7	1070	c.884G>C	c.(883-885)gGg>gCg	p.G295A	BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_Missense_Mutation_p.G234A	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	295						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	p.G295A(1)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGCCCTCAGGGCTCCCAGAC	0.637000													3	10					0	0	0.115264	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99117525	99117525	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:99117525G>T	ENST00000394170.2	+	4	880	c.629G>T	c.(628-630)gGg>gTg	p.G210V	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.G210V|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.G210V	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	210					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G210V(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTCTCAACTGGGTCCCAGGTG	0.537000													10	54					2.17888e-05	2.76557e-05	0.058154	1	0
TBX4	9496	broad.mit.edu	37	17	59556082	59556082	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:59556082G>T	ENST00000393853.4	+	6	807	c.644G>T	c.(643-645)tGc>tTc	p.C215F	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Missense_Mutation_p.C215F			P57082	TBX4_HUMAN	T-box 4	215					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.C215F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ACTGCTTTCTGCACCCACGTG	0.532000													17	74					4.96729e-08	7.28205e-08	0.204396	1	0
PRLHR	2834	broad.mit.edu	37	10	120353854	120353854	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:120353854C>A	ENST00000239032.2	-	2	1041	c.903G>T	c.(901-903)cgG>cgT	p.R301R	PRLHR_ENST00000369169.1_Silent_p.R301R	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	301					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	p.R301R(1)		large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GGTCGAGGTCCCGCAGCAGGT	0.662000													5	30					0.00116845	0.0013046	0.217242	1	0
OR10Z1	128368	broad.mit.edu	37	1	158576328	158576328	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158576328C>T	ENST00000361284.1	+	1	100	c.100C>T	c.(100-102)Ctg>Ttg	p.L34L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L34L(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GTTCCTCTCTCTGTATCTAGT	0.502000													22	122					0	0	0.076483	0	0
COL20A1	57642	broad.mit.edu	37	20	61938933	61938933	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:61938933G>T	ENST00000422202.1	+	5	677	c.609G>T	c.(607-609)caG>caT	p.Q203H	COL20A1_ENST00000326996.6_Missense_Mutation_p.Q196H|COL20A1_ENST00000358894.6_Missense_Mutation_p.Q196H|COL20A1_ENST00000435874.1_Missense_Mutation_p.Q203H			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	196	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity	p.Q196H(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GTCACTTCCAGCAGGTCAAGG	0.667000													5	20					0.217242	0.219337	0.217242	1	0
PCDHA3	56145	broad.mit.edu	37	5	140181091	140181091	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140181091C>A	ENST00000522353.2	+	1	309	c.309C>A	c.(307-309)agC>agA	p.S103R	PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S103R|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1												p.S103R(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAGTGCAGCATCCACCTGG	0.547000													37	81					2.40579e-17	4.35957e-17	0.235728	1	0
CYP4B1	1580	broad.mit.edu	37	1	47283692	47283692	+	Silent	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:47283692C>G	ENST00000271153.4	+	10	1296	c.1260C>G	c.(1258-1260)ccC>ccG	p.P420P	CYP4B1_ENST00000452782.2_Silent_p.P258P|CYP4B1_ENST00000371923.4_Silent_p.P421P|CYP4B1_ENST00000371919.4_Silent_p.P406P			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	420					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.P420P(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CTGTATGGCCCGACCCTGAGG	0.582000													25	109					0	0	0.116897	0	0
TMED1	11018	broad.mit.edu	37	19	10946030	10946030	+	Splice_Site	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:10946030C>T	ENST00000214869.2	-	2	282		c.e2-1		TMED1_ENST00000591695.1_Splice_Site|TMED1_ENST00000588289.1_Splice_Site	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1						cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding	p.?(1)		breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						CTCCGATCACCTGGGGGGCAG	0.627000													28	37					0	0	0.163468	0	0
VPS13A	23230	broad.mit.edu	37	9	79929505	79929505	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:79929505C>A	ENST00000360280.3	+	37	4597	c.4337C>A	c.(4336-4338)tCa>tAa	p.S1446*	VPS13A_ENST00000376634.4_Nonsense_Mutation_p.S1446*|VPS13A_ENST00000376636.3_Nonsense_Mutation_p.S1407*|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.S1446*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1446					Golgi to endosome transport|protein transport	intracellular	protein binding	p.S1446*(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACAGATGGCTCAACATTTTCT	0.318000													4	50					0.150653	0.15348	0.150653	1	0
VEPH1	79674	broad.mit.edu	37	3	157178033	157178033	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:157178033C>A	ENST00000362010.2	-	4	773	c.466G>T	c.(466-468)Gca>Tca	p.A156S	VEPH1_ENST00000468233.1_Missense_Mutation_p.A156S|VEPH1_ENST00000543418.1_Missense_Mutation_p.A156S|VEPH1_ENST00000494677.1_Missense_Mutation_p.A156S|VEPH1_ENST00000537559.1_Missense_Mutation_p.A156S|VEPH1_ENST00000392832.2_Missense_Mutation_p.A156S|VEPH1_ENST00000392833.2_Missense_Mutation_p.A156S	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	156						plasma membrane		p.A156S(2)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTGGTAATTGCAGCCAGAGAC	0.483000													38	49					3.62531e-18	6.66003e-18	0.203993	1	0
SPTA1	6708	broad.mit.edu	37	1	158615169	158615169	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158615169G>C	ENST00000368148.3	-	29	4183	c.4003C>G	c.(4003-4005)Cgt>Ggt	p.R1335G	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1335G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1335					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.R1335G(2)		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)					ATGTCAGCACGGTGCTCCTGT	0.488000													5	43					0	0	0.029380	0	0
RBM48	84060	broad.mit.edu	37	7	92161862	92161862	+	Splice_Site	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:92161862A>T	ENST00000481551.1	+	3	488	c.448_splice	c.e3+1	p.K149_splice	RBM48_ENST00000265732.5_Splice_Site_p.K149_splice			Q5RL73	CG064_HUMAN	RNA binding motif protein 48	149							nucleotide binding	p.K149N(1)									CTGAAAATAAAGGTATGGAAA	0.403000													24	28					0	0	0.076483	0	0
FLG	2312	broad.mit.edu	37	1	152279701	152279701	+	Nonsense_Mutation	SNP	G	G	T	rs121909626		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:152279701G>T	ENST00000368799.1	-	3	7696	c.7661C>A	c.(7660-7662)tCa>tAa	p.S2554*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2554	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S2554*(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)			GGGCCCCTCTGATTGTCCCTG	0.597000									Ichthyosis				34	210					8.73648e-17	1.57343e-16	0.203993	1	0
GRIA1	2890	broad.mit.edu	37	5	153078460	153078460	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:153078460A>C	ENST00000285900.5	+	10	1622	c.1279A>C	c.(1279-1281)Aat>Cat	p.N427H	GRIA1_ENST00000340592.5_Missense_Mutation_p.N427H|GRIA1_ENST00000518142.1_Missense_Mutation_p.N347H|GRIA1_ENST00000518783.1_Missense_Mutation_p.N437H|GRIA1_ENST00000521843.2_Missense_Mutation_p.N358H|GRIA1_ENST00000448073.4_Missense_Mutation_p.N437H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	427					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.N427H(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAAGAACGCCAATCAGTTTGA	0.517000													12	35					0	0	0.105934	0	0
ZNF230	7773	broad.mit.edu	37	19	44515399	44515399	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:44515399G>T	ENST00000429154.2	+	5	1436	c.1208G>T	c.(1207-1209)cGg>cTg	p.R403L		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R403L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AGCTTTAGCCGGGCTTCAAGT	0.438000													40	43					1.62957e-23	3.05884e-23	0.104719	1	0
ACTG1	71	broad.mit.edu	37	17	79479283	79479283	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:79479283G>A	ENST00000575842.1	-	1	524	c.98C>T	c.(97-99)tCc>tTc	p.S33F	ACTG1_ENST00000575087.1_Missense_Mutation_p.S33F|ACTG1_ENST00000573283.1_Missense_Mutation_p.S33F|ACTG1_ENST00000331925.2_Missense_Mutation_p.S33F			P63261	ACTG_HUMAN	actin, gamma 1	33					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	p.S33F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CCCGACGATGGAAGGAAACAC	0.657000													13	57					0	0	0.132662	0	0
MARCH11	441061	broad.mit.edu	37	5	16091001	16091001	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:16091001T>G	ENST00000332432.8	-	3	1082	c.883A>C	c.(883-885)Ata>Cta	p.I295L	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	295						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	p.I295L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						GTCTTACCTATGCACACTAGA	0.438000													9	20					0	0	0.058154	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37431003	37431003	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:37431003G>T	ENST00000374660.1	+	7	1109	c.1010G>T	c.(1009-1011)aGg>aTg	p.R337M	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.R337M|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.R337M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	393						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R337M(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GACACACCTAGGGAAATTATG	0.423000													7	55					0.0581538	0.0602072	0.058154	1	0
SETD1A	9739	broad.mit.edu	37	16	30977436	30977436	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:30977436G>T	ENST00000262519.8	+	8	2920	c.2234G>T	c.(2233-2235)cGg>cTg	p.R745L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	745					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	p.R745L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCATACTCACGGGAGGCCTAC	0.672000													14	47					4.36969e-10	6.90298e-10	0.105934	1	0
MNDA	4332	broad.mit.edu	37	1	158815621	158815621	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158815621C>A	ENST00000368141.4	+	5	1076	c.815C>A	c.(814-816)tCt>tAt	p.S272Y		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	272	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.S272Y(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCTGATTACTCTGAATGTAAA	0.338000													14	54					7.93312e-07	1.0982e-06	0.119110	1	0
UBR4	23352	broad.mit.edu	37	1	19513693	19513693	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:19513693G>A	ENST00000375267.2	-	13	1600	c.1597C>T	c.(1597-1599)Ctg>Ttg	p.L533L	UBR4_ENST00000375217.2_Silent_p.L533L|UBR4_ENST00000375226.2_Silent_p.L533L|UBR4_ENST00000375254.3_Silent_p.L533L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	533					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.L533L(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTCAAGAGCAGGTTCATCAGT	0.438000													8	32					0	0	0.038147	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75898355	75898355	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:75898355G>T	ENST00000262207.4	+	2	601	c.133G>T	c.(133-135)Gag>Tag	p.E45*	CRISPLD1_ENST00000519798.1_Intron	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	45						extracellular region		p.E45*(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TGAGGATGGTGAGTGGTGGAT	0.438000													11	49					6.40141e-05	7.87949e-05	0.080935	1	0
LPHN3	23284	broad.mit.edu	37	4	62849169	62849169	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:62849169G>T	ENST00000512091.1	+	18	3627	c.2880G>T	c.(2878-2880)ctG>ctT	p.L960L	LPHN3_ENST00000508693.1_Silent_p.L1028L|LPHN3_ENST00000506720.1_Silent_p.L1028L|LPHN3_ENST00000514996.1_Silent_p.L960L|LPHN3_ENST00000504896.1_Silent_p.L960L|LPHN3_ENST00000508946.1_Silent_p.L960L|LPHN3_ENST00000506700.1_Silent_p.L960L|LPHN3_ENST00000506746.1_Silent_p.L1028L|LPHN3_ENST00000509896.1_Silent_p.L1028L|LPHN3_ENST00000507625.1_Silent_p.L1028L|LPHN3_ENST00000514591.1_Silent_p.L960L|LPHN3_ENST00000514157.1_Silent_p.L960L|LPHN3_ENST00000507164.1_Silent_p.L1028L|LPHN3_ENST00000511324.1_Silent_p.L1028L|LPHN3_ENST00000545650.1_Silent_p.L960L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	947					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.L960L(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GGATGTTCCTGGAGGGGGTGC	0.453000													9	40					0.000442599	0.000513331	0.058154	1	0
DPP6	1804	broad.mit.edu	37	7	154684122	154684122	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:154684122G>T	ENST00000404039.1	+	26	2925	c.2338G>T	c.(2338-2340)Gtg>Ttg	p.V780L	DPP6_ENST00000377770.3_Missense_Mutation_p.V844L|DPP6_ENST00000332007.3_Missense_Mutation_p.V782L|DPP6_ENST00000427557.1_Missense_Mutation_p.V737L	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	844					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.V782L(1)|p.V780L(1)|p.V844L(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CAACTTCTTCGTGGAATGCTT	0.512000													10	44					3.86212e-05	4.79819e-05	0.069234	1	0
TAS1R2	80834	broad.mit.edu	37	1	19166166	19166166	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:19166166A>G	ENST00000375371.3	-	6	2468	c.2447T>C	c.(2446-2448)cTc>cCc	p.L816P		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	816					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.L816P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CGGGTAGAAGAGGATCATGTA	0.607000													4	28					0	0	0.184627	0	0
FCGR2B	2213	broad.mit.edu	37	1	161641338	161641338	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:161641338C>A	ENST00000367962.4	+	3	417	c.290C>A	c.(289-291)cCc>cAc	p.P97H	FCGR2B_ENST00000428605.2_Missense_Mutation_p.P97H|FCGR2B_ENST00000367960.5_Missense_Mutation_p.P90H|FCGR2B_ENST00000403078.3_Missense_Mutation_p.P97H|FCGR2B_ENST00000358671.5_Missense_Mutation_p.P97H|FCGR2B_ENST00000367961.4_Missense_Mutation_p.P90H|FCGR2B_ENST00000236937.9_Missense_Mutation_p.P97H			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	97	Ig-like C2-type 1.				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	p.P97H(1)				all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CACACGCAGCCCAGCTACAGG	0.577000			T	?	ALL								8	64					0.000157383	0.000187733	0.038147	1	0
EP400	57634	broad.mit.edu	37	12	132522603	132522603	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:132522603G>T	ENST00000333577.4	+	33	6386	c.6277G>T	c.(6277-6279)Gaa>Taa	p.E2093*	EP400_ENST00000389561.2_Nonsense_Mutation_p.E2057*|EP400_ENST00000389562.2_Nonsense_Mutation_p.E2056*|EP400_ENST00000332482.4_Nonsense_Mutation_p.E2020*|EP400_ENST00000330386.6_Nonsense_Mutation_p.E1976*			Q96L91	EP400_HUMAN	E1A binding protein p400	2093					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.E2056*(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTCTGTCACGGAAACCATTGC	0.498000													15	84					2.32078e-09	3.58889e-09	0.132662	1	0
LAMA1	284217	broad.mit.edu	37	18	7015759	7015759	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:7015759C>A	ENST00000389658.3	-	22	3181	c.3088G>T	c.(3088-3090)Gat>Tat	p.D1030Y		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1030	Laminin EGF-like 11.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.D1030Y(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGTGCCCATCCTCACATTCT	0.557000													11	51					0.000673444	0.000759438	0.069234	1	0
HYDIN	54768	broad.mit.edu	37	16	70902577	70902577	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:70902577G>T	ENST00000393567.2	-	66	11356	c.11206C>A	c.(11206-11208)Cag>Aag	p.Q3736K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3736								p.Q3735K(1)|p.Q3687K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCAGGGAGCTGAAACATAATC	0.527000													4	26					0.184627	0.186922	0.184627	1	0
PPARGC1A	10891	broad.mit.edu	37	4	23833288	23833288	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:23833288G>A	ENST00000264867.2	-	3	440	c.321C>T	c.(319-321)ccC>ccT	p.P107P	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	107					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	p.P107P(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CATCAAATGAGGGCAATCCGT	0.527000													33	186					0	0	0.214465	0	0
MRPL47	57129	broad.mit.edu	37	3	179316492	179316492	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:179316492G>C	ENST00000476781.1	-	4	402	c.373C>G	c.(373-375)Cca>Gca	p.P125A	MRPL47_ENST00000392659.2_Missense_Mutation_p.P15A|MRPL47_ENST00000259038.2_Missense_Mutation_p.P105A	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	125					translation	mitochondrial ribosome	structural constituent of ribosome	p.P125A(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CTTGGCATTGGCAATCTCTGC	0.443000													26	58					0	0	0.099896	0	0
MUC16	94025	broad.mit.edu	37	19	9082905	9082905	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:9082905C>A	ENST00000397910.4	-	1	9113	c.8910G>T	c.(8908-8910)atG>atT	p.M2970I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2971	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.M2970N(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						CATGCCCTGCCATAGAAGGGG	0.507000													34	54					4.4194e-11	7.22279e-11	0.173368	1	0
ACOT6	641372	broad.mit.edu	37	14	74086211	74086211	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:74086211G>C	ENST00000381139.1	+	2	623	c.292G>C	c.(292-294)Gaa>Caa	p.E98Q	RP3-414A15.10_ENST00000555011.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	98						cytosol	carboxylesterase activity	p.E98Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TGTTCCATTGGAAAAGGCGCA	0.423000													12	68					0	0	0.080935	0	0
TAS2R1	50834	broad.mit.edu	37	5	9630090	9630090	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:9630090G>T	ENST00000382492.2	-	1	373	c.55C>A	c.(55-57)Ctt>Att	p.L19I	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	19					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	p.L19I(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AAAATCCCAAGAAGAAATTGT	0.343000													5	53					0.000602214	0.000684377	0.184627	1	0
CTRC	11330	broad.mit.edu	37	1	15770036	15770036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:15770036G>A	ENST00000375949.4	+	5	505	c.479G>A	c.(478-480)tGg>tAg	p.W160*	CTRC_ENST00000375943.2_3'UTR|CTRC_ENST00000483406.1_3'UTR	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	160	Peptidase S1.				proteolysis		serine-type endopeptidase activity	p.W160*(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)		GTCACCGGCTGGGGCCGCCTC	0.587000													26	99					0	0	0.091800	0	0
TNR	7143	broad.mit.edu	37	1	175334200	175334200	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:175334200C>A	ENST00000367674.1	-	12	3241	c.2533G>T	c.(2533-2535)Gtg>Ttg	p.V845L	TNR_ENST00000263525.2_Missense_Mutation_p.V845L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	845	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.V845L(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGACAGCCACAAGGTTCACA	0.557000													8	71					0.000274275	0.000320388	0.047766	1	0
PLEKHG4B	153478	broad.mit.edu	37	5	155007	155007	+	Silent	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:155007C>G	ENST00000283426.6	+	6	992	c.942C>G	c.(940-942)tcC>tcG	p.S314S		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	314					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.S314S(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TCGTGAGCTCCCTGAAGGCCG	0.562000													9	24					0	0	0.047766	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558593	140558593	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140558593A>T	ENST00000239444.2	+	1	1223	c.978A>T	c.(976-978)ggA>ggT	p.G326G		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		326	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G326G(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGATGCTGGAGGCTTTTCTG	0.418000													23	401					0	0	0.083992	0	0
ANGPT1	284	broad.mit.edu	37	8	108315513	108315513	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:108315513A>T	ENST00000520734.1	-	4	576	c.291T>A	c.(289-291)agT>agA	p.S97R	ANGPT1_ENST00000520052.1_Missense_Mutation_p.S96R|ANGPT1_ENST00000518386.1_Intron			Q15389	ANGP1_HUMAN	angiopoietin 1	297					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.S297R(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGTAGATTCCACTTTTATTAA	0.323000													22	49					0	0	0.219247	0	0
PDPR	55066	broad.mit.edu	37	16	70154580	70154580	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:70154580C>G	ENST00000288050.4	+	3	1142	c.185C>G	c.(184-186)tCc>tGc	p.S62C	PDPR_ENST00000568530.1_Missense_Mutation_p.S62C|PDPR_ENST00000398122.3_Intron	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	62					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	p.S62C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TATCACCTCTCCAAAATGGGG	0.557000													13	31					0	0	0.105934	0	0
DUSP10	11221	broad.mit.edu	37	1	221875811	221875811	+	Missense_Mutation	SNP	G	G	T	rs61757363		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:221875811G>T	ENST00000366899.3	-	4	1630	c.1392C>A	c.(1390-1392)aaC>aaA	p.N464K	DUSP10_ENST00000544095.1_Missense_Mutation_p.N122K|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000323825.3_Missense_Mutation_p.N122K	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	464					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.N464K(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GTGTCACACCGTTGTTTAGGT	0.468000													18	155					1.45105e-14	2.52342e-14	0.175082	1	0
PFKFB3	5209	broad.mit.edu	37	10	6261507	6261507	+	Nonsense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:6261507C>G	ENST00000536985.1	+	7	544	c.464C>G	c.(463-465)tCa>tGa	p.S155*	PFKFB3_ENST00000379775.4_Intron|PFKFB3_ENST00000360521.2_Intron|PFKFB3_ENST00000540253.1_Intron|PFKFB3_ENST00000379789.4_Intron|PFKFB3_ENST00000379782.3_Intron|PFKFB3_ENST00000379785.1_Intron|PFKFB3_ENST00000317350.4_Intron			Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	461	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						CGTGATTTATCAGCCACCCCT	0.493000													11	28					0	0	0.105934	0	0
PCLO	27445	broad.mit.edu	37	7	82545171	82545171	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:82545171C>T	ENST00000423517.2	-	7	12468	c.12131G>A	c.(12130-12132)cGa>cAa	p.R4044Q	PCLO_ENST00000333891.8_Missense_Mutation_p.R4044Q|PCLO_ENST00000437081.1_Missense_Mutation_p.R764Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3975					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R4044Q(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GACATAATTTCGTGGAGTATG	0.408000													21	30					0	0	0.204396	0	0
IARS2	55699	broad.mit.edu	37	1	220269552	220269552	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:220269552G>T	ENST00000366922.1	+	2	489	c.158G>T	c.(157-159)gGa>gTa	p.G53V	IARS2_ENST00000302637.5_Missense_Mutation_p.G125V			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	125					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	p.G125V(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CCTCATGTTGGACATGCTTTA	0.308000													6	30					4.096e-09	6.3075e-09	0.217242	1	0
PAQR3	152559	broad.mit.edu	37	4	79847698	79847698	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:79847698C>G	ENST00000512733.1	-	4	892	c.679G>C	c.(679-681)Gga>Cga	p.G227R	PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000515541.1_5'UTR|PAQR3_ENST00000380645.4_Missense_Mutation_p.G227R	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	227						Golgi membrane|integral to membrane	receptor activity	p.G227R(1)		breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						GCACCAATTCCTCCATTGAGC	0.378000													10	54					0	0	0.080935	0	0
UMODL1	89766	broad.mit.edu	37	21	43531672	43531672	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr21:43531672C>A	ENST00000400427.1	+	11	2520	c.2124C>A	c.(2122-2124)ccC>ccA	p.P708P	UMODL1_ENST00000408989.2_Silent_p.P780P|UMODL1_ENST00000400424.1_Silent_p.P580P|UMODL1_ENST00000408910.2_Silent_p.P652P	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	705	Fibronectin type-III 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	p.P780P(1)|p.P580P(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTGAGGACCCCACCGGCCACT	0.627000													5	35					1.23904e-05	1.58364e-05	0.184627	1	0
NLRP9	338321	broad.mit.edu	37	19	56244283	56244283	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:56244283G>T	ENST00000332836.2	-	2	941	c.914C>A	c.(913-915)tCg>tAg	p.S305*		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	305	NACHT.					cytoplasm	ATP binding	p.S305*(1)|p.S305L(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GGAGAAATACGACTTCTTTTC	0.383000													25	43					8.24728e-16	1.47266e-15	0.099896	1	0
CNKSR1	10256	broad.mit.edu	37	1	26509049	26509049	+	Missense_Mutation	SNP	G	G	A	rs140239583	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:26509049G>A	ENST00000361530.6	+	6	743	c.598G>A	c.(598-600)Gag>Aag	p.E200K	CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000374253.5_Missense_Mutation_p.E200K			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	200	PDZ.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	p.E200K(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCGTGCTCGAGCAGGTGCA	0.632000													6	24					0	0	0.029380	0	0
NIF3L1	60491	broad.mit.edu	37	2	201758087	201758087	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:201758087A>T	ENST00000409020.1	+	3	849	c.555A>T	c.(553-555)gcA>gcT	p.A185A	NIF3L1_ENST00000359683.4_Silent_p.A158A|NIF3L1_ENST00000409588.1_Silent_p.A185A|NIF3L1_ENST00000416651.1_Silent_p.A185A|NIF3L1_ENST00000409357.1_Silent_p.A185A			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	185					positive regulation of transcription, DNA-dependent		transcription factor binding	p.A185A(1)|p.A158A(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						TCATGTCTGCAGTGAAAGGAA	0.398000													11	79					0	0	0.093190	0	0
KIRREL	55243	broad.mit.edu	37	1	158064602	158064602	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158064602G>T	ENST00000368172.1	+	11	1420	c.1408G>T	c.(1408-1410)Ggc>Tgc	p.G470C	KIRREL_ENST00000360089.4_Missense_Mutation_p.G492C|KIRREL_ENST00000359209.6_Missense_Mutation_p.G656C|KIRREL_ENST00000368173.3_Missense_Mutation_p.G672C|KIRREL_ENST00000392272.2_Missense_Mutation_p.G553C|KIRREL_ENST00000416935.2_Missense_Mutation_p.G556C			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	656	Ig-like C2-type 5.					integral to membrane		p.G656C(1)|p.G492C(1)|p.G672C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CTATAGCCGGGGCCCTGCCTC	0.657000													17	29					3.32936e-07	4.70216e-07	0.175082	1	0
XKR7	343702	broad.mit.edu	37	20	30556125	30556125	+	Silent	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:30556125G>C	ENST00000217299.3	+	1	321	c.147G>C	c.(145-147)ggG>ggC	p.G49G		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	49						integral to membrane		p.G49G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			gcggcccggggccgcgcTACG	0.801000													3	8					0	0	0.150653	0	0
TAL1	6886	broad.mit.edu	37	1	47685674	47685674	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:47685674G>T	ENST00000371883.3	-	4	1296	c.720C>A	c.(718-720)ttC>ttA	p.F240L	TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Missense_Mutation_p.F238L|TAL1_ENST00000294339.3_Missense_Mutation_p.F238L			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	238	Helix-loop-helix motif.				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	p.F238L(1)		haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GCTTGGCCAAGAAGTTGATAT	0.622000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								6	35					8.12818e-05	9.85601e-05	0.029380	1	0
IL36G	56300	broad.mit.edu	37	2	113737683	113737683	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:113737683G>C	ENST00000259205.4	+	4	327	c.258G>C	c.(256-258)ttG>ttC	p.L86F	IL36G_ENST00000376489.2_Missense_Mutation_p.L51F	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	86					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.L86F(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						AAATGTGTTTGTATTGTGAGA	0.403000													16	41					0	0	0.160694	0	0
HDC	3067	broad.mit.edu	37	15	50534961	50534961	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:50534961C>T	ENST00000267845.3	-	12	1887	c.1485G>A	c.(1483-1485)agG>agA	p.R495R	HDC_ENST00000543581.1_Silent_p.R462R	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	495					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.R495R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CTCTGGCACCCCTGATTTGGG	0.577000													10	30					0	0	0.069234	0	0
TNNI3K	51086	broad.mit.edu	37	1	74701175	74701175	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:74701175G>T	ENST00000326637.3	+	1	91	c.40_splice	c.e1+1	p.D14_splice	FPGT-TNNI3K_ENST00000557284.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370891.2_Intron|TNNI3K_ENST00000370893.1_Intron	NM_015978.2	NP_057062.1			TNNI3 interacting kinase									p.D14Y(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						AACTTGTACTGGTAATTATTC	0.289000													7	64					5.18039e-06	6.86659e-06	0.038147	1	0
DPY19L2	283417	broad.mit.edu	37	12	63976267	63976267	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:63976267G>T	ENST00000324472.4	-	18	1827	c.1644C>A	c.(1642-1644)gcC>gcA	p.A548A	DPY19L2_ENST00000413230.2_5'UTR	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	548					multicellular organismal development|spermatid development	integral to membrane		p.A548A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAATGGCAAGGGCAGTAAACA	0.338000													8	22					0.00307968	0.00335674	0.038147	1	0
ACBD6	84320	broad.mit.edu	37	1	180257594	180257594	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:180257594G>T	ENST00000367595.3	-	8	1440	c.753C>A	c.(751-753)ccC>ccA	p.P251P	ACBD6_ENST00000475338.2_5'UTR	NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	251						cytoplasm|nucleus	fatty-acyl-CoA binding	p.P251P(1)	ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						CTCGGAGAGTGGGGTCAGCAC	0.498000													3	27					0.115264	0.118414	0.115264	1	0
CXCR2	3579	broad.mit.edu	37	2	219000380	219000380	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:219000380T>C	ENST00000318507.2	+	3	1283	c.856T>C	c.(856-858)Tgt>Cgt	p.C286R		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	286					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	p.C286R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CCAGGAGACCTGTGAGCGCCG	0.592000													11	62					0	0	0.080935	0	0
EDN3	1908	broad.mit.edu	37	20	57896099	57896099	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:57896099C>A	ENST00000311585.7	+	3	763	c.393C>A	c.(391-393)aaC>aaA	p.N131K	EDN3_ENST00000337938.2_Missense_Mutation_p.N131K|EDN3_ENST00000371028.2_Missense_Mutation_p.N131K|EDN3_ENST00000371025.3_Missense_Mutation_p.N131K|EDN3_ENST00000395654.3_Missense_Mutation_p.N131K	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	131					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	p.N131K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					GACTGTCCAACTACAGAGGAA	0.612000													10	42					0.000978159	0.00110052	0.080935	1	0
MARCO	8685	broad.mit.edu	37	2	119752009	119752009	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:119752009G>T	ENST00000541757.1	+	18	1622	c.1242G>T	c.(1240-1242)gaG>gaT	p.E414D	MARCO_ENST00000327097.4_Missense_Mutation_p.E492D			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	492	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.E492D(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGGGCACGGAGAGTACCCTGT	0.557000													5	30					2.0095e-06	2.71264e-06	0.029380	1	0
RTTN	25914	broad.mit.edu	37	18	67869201	67869201	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:67869201T>C	ENST00000255674.6	-	4	702	c.416A>G	c.(415-417)gAa>gGa	p.E139G	RTTN_ENST00000454359.1_Missense_Mutation_p.E139G|RTTN_ENST00000437017.1_Missense_Mutation_p.E139G	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	139							binding	p.E139G(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TGTTAAGATTTCAGGGTTTTT	0.363000													7	22					0	0	0.038147	0	0
ITPR2	3709	broad.mit.edu	37	12	26568288	26568288	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:26568288C>A	ENST00000381340.3	-	51	7670	c.7254G>T	c.(7252-7254)aaG>aaT	p.K2418N	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2418					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.K2418N(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TGAAGTCATCCTTCAAAAAAA	0.408000													17	53					1.55795e-14	2.6997e-14	0.234183	1	0
PCDHB4	56131	broad.mit.edu	37	5	140502416	140502416	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140502416G>T	ENST00000194152.1	+	1	836	c.836G>T	c.(835-837)gGc>gTc	p.G279V		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		279	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.G279V(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTTCTTATGGCTTATTCCAA	0.373000													37	64					1.66425e-11	2.74134e-11	0.214465	1	0
IGSF21	84966	broad.mit.edu	37	1	18661461	18661461	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:18661461G>C	ENST00000251296.1	+	4	764	c.381G>C	c.(379-381)gaG>gaC	p.E127D		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	127	Ig-like 1.					extracellular region		p.E127D(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCACCAGGGAGAAGGTGGTCC	0.607000													4	23					0	0	0.150653	0	0
HECW2	57520	broad.mit.edu	37	2	197185132	197185132	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:197185132T>A	ENST00000260983.2	-	8	1098	c.916A>T	c.(916-918)Agg>Tgg	p.R306W	HECW2_ENST00000409111.1_Intron	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	306					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.R306W(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCTGGGAGCCTTCTGCCAAGG	0.463000													7	19					0	0	0.038147	0	0
NEU4	129807	broad.mit.edu	37	2	242758367	242758367	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:242758367C>A	ENST00000391969.2	+	5	2159	c.1448C>A	c.(1447-1449)cCc>cAc	p.P483H	NEU4_ENST00000325935.6_Missense_Mutation_p.P496H|NEU4_ENST00000405370.1_Missense_Mutation_p.P483H|NEU4_ENST00000407683.1_Missense_Mutation_p.P483H|NEU4_ENST00000404257.1_Missense_Mutation_p.P495H	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	483						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	p.P495H(1)		breast(1)|lung(10)|prostate(2)|skin(2)	15		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;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-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;0.0825)		TGCTGCTGGCCCTCCTGACAG	0.657000													3	9					2.56e-06	3.44624e-06	0.150653	1	0
ZBTB18	10472	broad.mit.edu	37	1	244217947	244217947	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:244217947G>A	ENST00000358704.4	+	2	1020	c.871G>A	c.(871-873)Gag>Aag	p.E291K		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18																		TTCCTGTGATGAGAGTGATGT	0.468000													9	56					0	0	0.058154	0	0
INSC	387755	broad.mit.edu	37	11	15260577	15260577	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:15260577C>T	ENST00000379554.3	+	11	1537	c.1491C>T	c.(1489-1491)ctC>ctT	p.L497L	INSC_ENST00000379556.3_Silent_p.L450L|INSC_ENST00000530161.1_Silent_p.L450L|INSC_ENST00000528567.1_Silent_p.L450L|INSC_ENST00000424273.1_Silent_p.L408L|INSC_ENST00000525218.1_Silent_p.L408L|INSC_ENST00000447214.2_3'UTR	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	497					cell differentiation|nervous system development	cytoplasm	binding	p.L497L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TGGCTCGTCTCAGCCGAGACC	0.617000													7	19					0	0	0.029380	0	0
HPS4	89781	broad.mit.edu	37	22	26872994	26872994	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:26872994T>A	ENST00000398145.2	-	4	857	c.241A>T	c.(241-243)Aag>Tag	p.K81*	HPS4_ENST00000402105.3_Nonsense_Mutation_p.K76*|HPS4_ENST00000336873.5_Nonsense_Mutation_p.K81*|HPS4_ENST00000398141.1_Nonsense_Mutation_p.K76*	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	81					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	p.K76*(1)|p.K81*(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						ATGGCAAACTTCAGTTTTCTC	0.413000									Hermansky-Pudlak syndrome				14	22					0	0	0.146539	0	0
HEATR5B	54497	broad.mit.edu	37	2	37280747	37280747	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:37280747T>G	ENST00000233099.5	-	17	2498	c.2403A>C	c.(2401-2403)ttA>ttC	p.L801F	HEATR5B_ENST00000354531.2_Missense_Mutation_p.L801F	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	801							binding	p.L801F(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CCAACATTTGTAATCTATAAC	0.333000													5	18					0	0	0.184627	0	0
MUC3A	4584	broad.mit.edu	37	7	100552899	100552899	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:100552899G>T	ENST00000319509.7	+	2	1544	c.1544G>T	c.(1543-1545)gGc>gTc	p.G515V						mucin 3A, cell surface associated									p.G515V(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GACAATGGTGGCACCTGGGAA	0.567000													5	67					0.0293803	0.0306341	0.029380	1	0
NES	10763	broad.mit.edu	37	1	156642662	156642662	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:156642662C>A	ENST00000368223.3	-	4	1450	c.1318G>T	c.(1318-1320)Gtc>Ttc	p.V440F		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	440	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	p.V440F(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCAGGCAGGACGCTGGCAGGA	0.667000													9	59					1.58986e-06	2.1641e-06	0.069234	1	0
GUCY1A2	2977	broad.mit.edu	37	11	106579268	106579268	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:106579268C>T	ENST00000526355.1	-	7	2429	c.1961G>A	c.(1960-1962)cGg>cAg	p.R654Q	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.R685Q|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.R675Q	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	654					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.R654Q(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		ATTGATGCGCCGAGGGTGACT	0.522000													4	26					0	0	0.184627	0	0
AGO2	27161	broad.mit.edu	37	8	141567304	141567304	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:141567304C>T	ENST00000220592.5	-	8	1022	c.910G>A	c.(910-912)Gtg>Atg	p.V304M	AGO2_ENST00000519980.1_Missense_Mutation_p.V304M	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2									p.V304M(1)									GTGCACTCCACCGTCTGCCCG	0.597000													11	54					0	0	0.080935	0	0
NTM	50863	broad.mit.edu	37	11	132204969	132204969	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:132204969G>T	ENST00000374786.1	+	7	1443	c.964G>T	c.(964-966)Ggc>Tgc	p.G322C	NTM_ENST00000374791.3_Missense_Mutation_p.G322C|NTM_ENST00000425719.2_Missense_Mutation_p.G333C|NTM_ENST00000539799.1_Missense_Mutation_p.G333C|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000427481.2_Missense_Mutation_p.G324C	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	322					cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.G322C(4)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GGTGAGCAACGGCACGTCGAG	0.602000													6	83					2.0095e-06	2.71264e-06	0.029380	1	0
AMOT	154796	broad.mit.edu	37	X	112058742	112058742	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:112058742C>A	ENST00000371959.3	-	2	1235	c.1236G>T	c.(1234-1236)cgG>cgT	p.R412R	AMOT_ENST00000371962.1_Silent_p.R180R|AMOT_ENST00000524145.1_Silent_p.R412R|AMOT_ENST00000371958.1_Silent_p.R180R|AMOT_ENST00000304758.1_Silent_p.R3R	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	412					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.R412R(1)|p.R3R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						ATGGCTGAGCCCGAGGCATAG	0.557000													12	44					9.31168e-06	1.21449e-05	0.105934	1	0
AJAP1	55966	broad.mit.edu	37	1	4772150	4772150	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:4772150G>T	ENST00000378191.4	+	2	601	c.220G>T	c.(220-222)Gtc>Ttc	p.V74F	AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Missense_Mutation_p.V74F	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	74					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		p.V74F(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GCCAGCGCGGGTCCCGGCCCC	0.761000													4	36					0.000602214	0.000684377	0.184627	1	0
FAT3	120114	broad.mit.edu	37	11	92526085	92526085	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:92526085G>T	ENST00000298047.6	+	8	4781	c.4764G>T	c.(4762-4764)gtG>gtT	p.V1588V	FAT3_ENST00000409404.2_Silent_p.V1588V|FAT3_ENST00000525166.1_Silent_p.V1438V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1588	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V1588V(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTCTGCAAGTGACGGCTCTGG	0.448000										TCGA Ovarian(4;0.039)			9	38					5.4927e-09	8.36169e-09	0.047766	1	0
HRH3	11255	broad.mit.edu	37	20	60791954	60791954	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:60791954G>T	ENST00000340177.5	-	3	730	c.446C>A	c.(445-447)aCg>aAg	p.T149K	HRH3_ENST00000317393.6_Missense_Mutation_p.T149K	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	149					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity	p.T149K(1)		breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	TGCCCGCCGCGTGTCACCCTG	0.682000													3	21					0.000602214	0.000684377	0.184627	1	0
ALK	238	broad.mit.edu	37	2	29917834	29917834	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:29917834A>T	ENST00000389048.3	-	3	1740	c.834T>A	c.(832-834)ccT>ccA	p.P278P	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	278	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.P278P(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CATGCAGTGGAGGGGAATACT	0.562000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				19	68					0	0	0.189662	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140772969	140772969	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140772969G>A	ENST00000398604.2	+	1	589	c.589G>A	c.(589-591)Gag>Aag	p.E197K	PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_032088.1	NP_114477.1												p.E197K(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGCTGGAGCGCGCCCT	0.632000													10	17					0	0	0.058154	0	0
UBXN1	51035	broad.mit.edu	37	11	62445970	62445970	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62445970C>G	ENST00000294119.2	-	3	348	c.217G>C	c.(217-219)Gaa>Caa	p.E73Q	UBXN1_ENST00000301935.5_Missense_Mutation_p.E73Q|UBXN1_ENST00000529640.1_Missense_Mutation_p.E73Q|UBXN1_ENST00000524762.1_5'UTR	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	73	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	p.E73Q(1)		endometrium(5)|lung(12)	17						TCAGGACCTTCAAGGCCGCCT	0.532000													6	47					0	0	0.029380	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101762327	101762327	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:101762327C>A	ENST00000334289.3	-	9	1445	c.850G>T	c.(850-852)Gat>Tat	p.D284Y		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	284	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding	p.D284Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		CGGAATGCATCACCTGGGAAA	0.358000													5	20					0.0293803	0.0306341	0.029380	1	0
ALDOC	230	broad.mit.edu	37	17	26902193	26902193	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:26902193C>A	ENST00000226253.4	-	3	747	c.272G>T	c.(271-273)gGt>gTt	p.G91V	ALDOC_ENST00000395319.3_Missense_Mutation_p.G91V|ALDOC_ENST00000395321.2_Missense_Mutation_p.G91V	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	91					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity	p.G91V(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					GAAGGGAACACCATTATCATC	0.522000											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	25					5.4927e-09	8.36169e-09	0.047766	1	0
FSCB	84075	broad.mit.edu	37	14	44975604	44975604	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:44975604G>A	ENST00000340446.4	-	1	878	c.587C>T	c.(586-588)cCt>cTt	p.P196L		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	196						cilium		p.P196L(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)		TTGAAATTCAGGGTGTTCACT	0.398000													22	102					0	0	0.234183	0	0
KCNQ3	3786	broad.mit.edu	37	8	133192464	133192464	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:133192464C>A	ENST00000388996.4	-	4	1137	c.717G>T	c.(715-717)cgG>cgT	p.R239R	KCNQ3_ENST00000519445.1_Silent_p.R239R|KCNQ3_ENST00000521134.1_Silent_p.R119R	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	239					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R239R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCCGGTCCATCCGCAGCATGC	0.592000													19	58					1.45105e-14	2.52342e-14	0.175082	1	0
FREM1	158326	broad.mit.edu	37	9	14859203	14859203	+	Silent	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:14859203T>C	ENST00000380881.4	-	5	1424	c.609A>G	c.(607-609)ccA>ccG	p.P203P	FREM1_ENST00000380880.3_Silent_p.P203P|FREM1_ENST00000422223.2_Silent_p.P203P			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	203					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.P203P(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AAAAACTGTGTGGCTGATCTC	0.507000													5	23					0	0	0.184627	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33649046	33649046	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:33649046C>T	ENST00000504830.1	-	9	1695	c.1360G>A	c.(1360-1362)Gac>Aac	p.D454N	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D454N	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	454	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.D454N(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTAGGTATGTCATCAAGACAG	0.453000										HNSCC(64;0.19)			14	45					0	0	0.132662	0	0
GPR39	2863	broad.mit.edu	37	2	133174567	133174567	+	Translation_Start_Site	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:133174567A>T	ENST00000329321.3	+	0	421					NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39							integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGGAGGAGAAAGGGAAGTTG	0.517000													5	33					0	0	0.184627	0	0
AJUBA	84962	broad.mit.edu	37	14	23450581	23450581	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:23450581C>A	ENST00000262713.2	-	1	1270	c.895G>T	c.(895-897)Gga>Tga	p.G299*	AJUBA_ENST00000361265.4_Nonsense_Mutation_p.G299*|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	299	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	p.G299*(1)									GAGGGTTCTCCGCGGGCTCCG	0.716000													6	19					8.12818e-05	9.85601e-05	0.029380	1	0
CPS1	1373	broad.mit.edu	37	2	211513207	211513207	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:211513207T>C	ENST00000233072.5	+	27	3543	c.3347T>C	c.(3346-3348)cTg>cCg	p.L1116P	CPS1_ENST00000451903.2_Missense_Mutation_p.L665P|CPS1_ENST00000430249.2_Missense_Mutation_p.L1122P	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1116	ATP-grasp 2.				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.L1122P(1)|p.L1116P(1)		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)		AATGAAGCACTGGAATTTGCA	0.333000													8	46					0	0	0.058154	0	0
CASR	846	broad.mit.edu	37	3	122003851	122003851	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:122003851A>T	ENST00000498619.1	+	7	3518	c.3080A>T	c.(3079-3081)cAg>cTg	p.Q1027L	CASR_ENST00000490131.1_Missense_Mutation_p.Q1017L|CASR_ENST00000296154.5_Missense_Mutation_p.Q1017L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	1017					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.Q1017L(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)	CTCCCGCTGCAGTGCGGGGAA	0.592000													9	32					0	0	0.047766	0	0
A2M	2	broad.mit.edu	37	12	9225254	9225254	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:9225254G>T	ENST00000318602.7	-	30	4277	c.3970C>A	c.(3970-3972)Ctc>Atc	p.L1324I		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1324					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	p.L1324I(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CTCACCTGGAGGTAGACACAT	0.517000													13	74					0.00244969	0.00268806	0.119110	1	0
TDRD5	163589	broad.mit.edu	37	1	179621306	179621306	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:179621306T>C	ENST00000444136.1	+	13	2384	c.2134T>C	c.(2134-2136)Tca>Cca	p.S712P	TDRD5_ENST00000367614.1_Missense_Mutation_p.S712P|TDRD5_ENST00000294848.8_Missense_Mutation_p.S712P	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	712					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.S712P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AAGTCCACAGTCAAAAGAGAG	0.373000													8	43					0	0	0.047766	0	0
FIGNL1	63979	broad.mit.edu	37	7	50514903	50514903	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:50514903C>A	ENST00000419119.1	-	2	1636	c.83G>T	c.(82-84)gGa>gTa	p.G28V	FIGNL1_ENST00000395556.2_Missense_Mutation_p.G28V|FIGNL1_ENST00000435566.1_Missense_Mutation_p.G28V|FIGNL1_ENST00000356889.4_Missense_Mutation_p.G28V|FIGNL1_ENST00000433017.1_Missense_Mutation_p.G28V			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	28					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	p.G28V(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TGCCTTCGGTCCGGTACATAT	0.443000													13	36					1.61879e-10	2.60214e-10	0.093190	1	0
MCM6	4175	broad.mit.edu	37	2	136598469	136598469	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:136598469C>T	ENST00000264156.2	-	17	2462	c.2402G>A	c.(2401-2403)gGa>gAa	p.G801E		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	801					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	p.G801E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GCTCTCACTTCCCTCTGTGGA	0.428000													10	49					0	0	0.069234	0	0
FCRL5	83416	broad.mit.edu	37	1	157497686	157497686	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:157497686C>A	ENST00000361835.3	-	9	1839		c.e9-1		FCRL5_ENST00000368190.3_Splice_Site|FCRL5_ENST00000356953.4_Splice_Site|FCRL5_ENST00000368191.3_Splice_Site	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5							integral to membrane|plasma membrane	receptor activity	p.?(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GACACTGGAACTGAGAGAGAA	0.507000													12	56					0.000219431	0.000261321	0.119110	1	0
ENPP2	5168	broad.mit.edu	37	8	120612922	120612922	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:120612922G>T	ENST00000427067.2	-	11	1136	c.956C>A	c.(955-957)cCt>cAt	p.P319H	ENPP2_ENST00000522826.1_Missense_Mutation_p.P323H|ENPP2_ENST00000259486.6_Missense_Mutation_p.P323H|ENPP2_ENST00000075322.6_Missense_Mutation_p.P323H			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	323					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.P323H(2)		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)			ACTAACCTCAGGGCCGAAAGG	0.448000													6	42					0.00448238	0.00486753	0.047766	1	0
GGT7	2686	broad.mit.edu	37	20	33440034	33440034	+	Missense_Mutation	SNP	G	G	A	rs142938362	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:33440034G>A	ENST00000336431.5	-	12	1555	c.1511C>T	c.(1510-1512)tCg>tTg	p.S504L	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	504					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.S504L(1)		NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CAGGATCCCCGAGGGGGTGAT	0.642000													8	26					0	0	0.038147	0	0
RNF180	285671	broad.mit.edu	37	5	63509680	63509680	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:63509680G>A	ENST00000389100.4	+	4	599	c.527G>A	c.(526-528)gGa>gAa	p.G176E	RNF180_ENST00000296615.6_Missense_Mutation_p.G176E|RNF180_ENST00000381081.2_Intron	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	176						integral to membrane|nuclear envelope	zinc ion binding	p.G176E(2)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		AATGACCCTGGAAGATTAACA	0.443000													21	36					0	0	0.234183	0	0
DCHS2	54798	broad.mit.edu	37	4	155156835	155156835	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:155156835A>C	ENST00000357232.3	-	25	7603	c.7604T>G	c.(7603-7605)tTc>tGc	p.F2535C		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2535					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F2535C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCTGCTGGCGAACACTGCCAA	0.388000													9	34					0	0	0.047766	0	0
INADL	10207	broad.mit.edu	37	1	62293239	62293239	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:62293239C>G	ENST00000371158.2	+	16	2078	c.1964C>G	c.(1963-1965)tCt>tGt	p.S655C	INADL_ENST00000316485.6_Missense_Mutation_p.S655C	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	655					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.S655C(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ACTGAAACCTCTCTTCCTGAG	0.453000													15	64					0	0	0.160694	0	0
TEP1	7011	broad.mit.edu	37	14	20864809	20864809	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:20864809C>T	ENST00000262715.5	-	10	1670	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K	TEP1_ENST00000556935.1_Missense_Mutation_p.E436K	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	544	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.E544K(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGAATGAGCTCATGGTGGCGG	0.567000													3	8					0	0	0.115264	0	0
PDE1A	5136	broad.mit.edu	37	2	183129074	183129074	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:183129074C>A	ENST00000435564.1	-	2	369	c.169G>T	c.(169-171)Gaa>Taa	p.E57*	PDE1A_ENST00000351439.5_Nonsense_Mutation_p.E41*|PDE1A_ENST00000331935.6_Nonsense_Mutation_p.E57*|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000410103.1_Nonsense_Mutation_p.E57*|PDE1A_ENST00000456212.1_Nonsense_Mutation_p.E57*|PDE1A_ENST00000358139.2_Nonsense_Mutation_p.E57*|PDE1A_ENST00000409365.1_Nonsense_Mutation_p.E41*	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	57					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E57*(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GCCGCATATTCAATATTCTTC	0.373000													13	43					6.72482e-11	1.09055e-10	0.132662	1	0
IGHA2	3494	broad.mit.edu	37	14	106054599	106054599	+	RNA	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:106054599C>A	ENST00000390539.2	-	0	133																											CACGTTCTGTCCGCTTTCGCT	0.642000													3	28					0.115264	0.118414	0.115264	1	0
MLLT6	4302	broad.mit.edu	37	17	36861986	36861986	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:36861986T>A	ENST00000325718.7	+	1	192	c.101T>A	c.(100-102)gTc>gAc	p.V34D	MLLT6_ENST00000378137.5_Missense_Mutation_p.V34D|CTB-58E17.3_ENST00000583409.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	34					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	p.V34D(1)		breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AGCGTGGTCGTCCACCAAGGT	0.746000			T	MLL	AL								7	28					0	0	0.038147	0	0
GK2	2712	broad.mit.edu	37	4	80327728	80327728	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:80327728G>T	ENST00000358842.3	-	1	1644	c.1627C>A	c.(1627-1629)Cta>Ata	p.L543I		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	543					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.L543I(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GCTCCAATTAGCATTACCATG	0.408000													6	43					8.12818e-05	9.85601e-05	0.029380	1	0
ABCC10	89845	broad.mit.edu	37	6	43417772	43417772	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:43417772C>A	ENST00000244533.3	+	20	4697	c.4338C>A	c.(4336-4338)ttC>ttA	p.F1446L	ABCC10_ENST00000372530.4_Missense_Mutation_p.F1474L	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1474	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.F1446L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ACTCCCTGTTCCAGCAGCTGC	0.642000													11	64					5.50884e-06	7.22357e-06	0.093190	1	0
AP5M1	55745	broad.mit.edu	37	14	57749878	57749878	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:57749878C>A	ENST00000261558.3	+	6	1629	c.1223C>A	c.(1222-1224)aCt>aAt	p.T408N	AP5M1_ENST00000431972.2_Missense_Mutation_p.T422N|AP5M1_ENST00000556723.1_3'UTR	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	408	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		p.T408N(1)									GGAACTGTAACTTTTGGAGCC	0.343000													10	52					3.86212e-05	4.79819e-05	0.069234	1	0
DRD2	1813	broad.mit.edu	37	11	113283382	113283382	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:113283382G>T	ENST00000362072.3	-	7	1378	c.1034C>A	c.(1033-1035)aCc>aAc	p.T345N	DRD2_ENST00000542968.1_Missense_Mutation_p.T345N|DRD2_ENST00000538967.1_Missense_Mutation_p.T347N|DRD2_ENST00000355319.2_Missense_Mutation_p.T347N|DRD2_ENST00000346454.3_Missense_Mutation_p.T316N|DRD2_ENST00000544518.1_Missense_Mutation_p.T344N	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	345	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.T345N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	ATTGGGCATGGTCTGGATCTC	0.552000													9	49					3.09899e-07	4.38524e-07	0.047766	1	0
DPP10	57628	broad.mit.edu	37	2	116447425	116447425	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:116447425G>T	ENST00000410059.1	+	7	984	c.504G>T	c.(502-504)tgG>tgT	p.W168C	DPP10_ENST00000393147.2_Missense_Mutation_p.W172C|DPP10_ENST00000310323.8_Missense_Mutation_p.W161C|DPP10_ENST00000409163.1_Missense_Mutation_p.W118C|DPP10_ENST00000488208.1_3'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	168					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.W168C(1)|p.W161C(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGGAAGTTTGGGAGTTAAATC	0.423000													3	23					0.115264	0.118414	0.115264	1	0
PPFIA2	8499	broad.mit.edu	37	12	81741468	81741468	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:81741468G>T	ENST00000550584.2	-	17	2371	c.2076C>A	c.(2074-2076)ggC>ggA	p.G692G	PPFIA2_ENST00000548586.1_Silent_p.G692G|PPFIA2_ENST00000552948.1_Silent_p.G692G|PPFIA2_ENST00000541570.2_Silent_p.G259G|PPFIA2_ENST00000549325.1_Silent_p.G674G|PPFIA2_ENST00000443686.3_Silent_p.G593G|PPFIA2_ENST00000407050.4_Silent_p.G618G|PPFIA2_ENST00000550359.2_Silent_p.G539G|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Silent_p.G674G|PPFIA2_ENST00000549396.1_Silent_p.G692G	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	618								p.G692G(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCAAATTCAGGCCTTCGAGGC	0.468000													9	60					3.86212e-05	4.79819e-05	0.069234	1	0
IGHV3-49	28423	broad.mit.edu	37	14	107012957	107012957	+	RNA	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:107012957G>T	ENST00000390625.2	-	0	417																											GTAATACACGGCTGTGTCCTC	0.542000													15	71					5.26018e-13	8.89437e-13	0.234183	1	0
NRXN1	9378	broad.mit.edu	37	2	50765423	50765423	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:50765423C>A	ENST00000404971.1	-	11	3570	c.2231G>T	c.(2230-2232)gGa>gTa	p.G744V	NRXN1_ENST00000405472.3_Missense_Mutation_p.G696V|NRXN1_ENST00000406316.2_Missense_Mutation_p.G704V|NRXN1_ENST00000402717.3_Missense_Mutation_p.G696V|NRXN1_ENST00000401669.2_Missense_Mutation_p.G704V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.G704V	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	704	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.G744V(1)|p.G745V(1)|p.G704V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATAGCCTGTTCCGGAACAATC	0.468000													22	119					1.22574e-08	1.8487e-08	0.069288	1	0
OR9G4	283189	broad.mit.edu	37	11	56510984	56510984	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:56510984A>T	ENST00000302957.3	-	1	303	c.304T>A	c.(304-306)Tca>Aca	p.S102T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S102T(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTATCTTCTGAGACACAACTG	0.453000													20	70					0	0	0.204396	0	0
COL11A1	1301	broad.mit.edu	37	1	103348790	103348790	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:103348790C>A	ENST00000358392.2	-	64	5289	c.4972G>T	c.(4972-4974)Gag>Tag	p.E1658*	COL11A1_ENST00000512756.1_Nonsense_Mutation_p.E1530*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.E1607*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.E1646*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1646	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.E1658K(1)|p.E1658*(1)|p.E1646*(1)|p.E1646K(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATGCAAGTCTCACCACCAGAT	0.378000													13	53					5.50884e-06	7.22357e-06	0.093190	1	0
HOXB1	3211	broad.mit.edu	37	17	46607968	46607968	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:46607968G>T	ENST00000239174.6	-	1	391	c.299C>A	c.(298-300)cCt>cAt	p.P100H	HOXB1_ENST00000577092.1_Missense_Mutation_p.P100H	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	100						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.P100H(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTGACCCAGAGGGTAGTACTG	0.662000													9	68					2.74318e-10	4.3712e-10	0.058154	1	0
SLC13A3	64849	broad.mit.edu	37	20	45194872	45194872	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:45194872T>C	ENST00000279027.4	-	11	1508	c.1490A>G	c.(1489-1491)gAg>gGg	p.E497G	SLC13A3_ENST00000472148.1_Missense_Mutation_p.E415G|SLC13A3_ENST00000413164.2_Missense_Mutation_p.E447G|SLC13A3_ENST00000435032.1_Missense_Mutation_p.E82G|SLC13A3_ENST00000290317.5_Missense_Mutation_p.E450G|SLC13A3_ENST00000495082.1_Missense_Mutation_p.E450G|SLC13A3_ENST00000396360.1_Missense_Mutation_p.E415G	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	497						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.E497G(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CCTCACCAGCTCTGCCAGGAC	0.607000													18	71					0	0	0.219247	0	0
DUSP26	78986	broad.mit.edu	37	8	33451050	33451050	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:33451050C>A	ENST00000256261.4	-	3	954		c.e3+1		DUSP26_ENST00000523956.1_Splice_Site	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)							Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(1)		NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TCCCCTCCTACCTCCTGGCTG	0.562000													3	33					0.004672	0.00503244	0.115264	1	0
MUC17	140453	broad.mit.edu	37	7	100678017	100678017	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:100678017C>A	ENST00000306151.4	+	3	3384	c.3320C>A	c.(3319-3321)cCt>cAt	p.P1107H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1107	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P1107H(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAAGTGTGCCTGTCAGCACC	0.502000													46	640					1.83347e-19	3.38949e-19	0.139131	1	0
DNAH12	201625	broad.mit.edu	37	3	57487119	57487119	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:57487119G>A	ENST00000351747.2	-	11	1444	c.1264C>T	c.(1264-1266)Ctt>Ttt	p.L422F	DNAH12_ENST00000311202.6_Missense_Mutation_p.L422F|DNAH12_ENST00000389536.4_Missense_Mutation_p.L422F	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	422	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L422F(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GTCCCATCAAGGAGCCAATTA	0.279000													6	39					0	0	0.217242	0	0
ZNF570	148268	broad.mit.edu	37	19	37975731	37975731	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:37975731C>T	ENST00000330173.1	+	5	1736	c.1207C>T	c.(1207-1209)Caa>Taa	p.Q403*	ZNF570_ENST00000586475.1_Nonsense_Mutation_p.Q459*|ZNF570_ENST00000388801.3_Nonsense_Mutation_p.Q200*	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q403*(1)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACACCTTGCTCAACATCAGAG	0.423000													28	40					0	0	0.125774	0	0
MYH6	4624	broad.mit.edu	37	14	23856749	23856749	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:23856749C>G	ENST00000405093.3	-	32	4709	c.4639G>C	c.(4639-4641)Gag>Cag	p.E1547Q	MYH6_ENST00000356287.3_Missense_Mutation_p.E1547Q	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1547					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.E1547Q(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCTGCCTCCTCCAGGGCTGAC	0.612000													8	28					0	0	0.038147	0	0
CSMD1	64478	broad.mit.edu	37	8	2944759	2944759	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:2944759T>C	ENST00000520002.1	-	50	7892	c.7337A>G	c.(7336-7338)aAc>aGc	p.N2446S	CSMD1_ENST00000400186.3_Missense_Mutation_p.N2446S|CSMD1_ENST00000602723.1_Missense_Mutation_p.N2446S|CSMD1_ENST00000542608.1_Missense_Mutation_p.N2445S|CSMD1_ENST00000537824.1_Missense_Mutation_p.N2445S|CSMD1_ENST00000602557.1_Missense_Mutation_p.N2446S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2446	Sushi 14.					integral to membrane		p.N2174S(1)|p.N2445S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCAGTCCTGTTTAGAATACC	0.493000													16	49					0	0	0.160694	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43637772	43637772	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:43637772G>A	ENST00000431635.2	-	2	331	c.183C>T	c.(181-183)ctC>ctT	p.L61L	EBNA1BP2_ENST00000236051.2_Silent_p.L6L|EBNA1BP2_ENST00000472982.1_5'UTR	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	6					ribosome biogenesis	membrane fraction|nucleolus	protein binding	p.L6L(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCGAATCCGAGAGCGGGGGAG	0.647000													5	20					0	0	0.184627	0	0
WT1	7490	broad.mit.edu	37	11	32413565	32413565	+	Missense_Mutation	SNP	C	C	A	rs121907903		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:32413565C>A	ENST00000332351.3	-	9	1669	c.1385G>T	c.(1384-1386)cGg>cTg	p.R462L	WT1_ENST00000448076.3_Missense_Mutation_p.R462L|WT1_ENST00000379079.2_Missense_Mutation_p.R250L|WT1_ENST00000530998.1_Missense_Mutation_p.R233L	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	394					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R394Q(6)|p.R394P(6)|p.R250L(1)|p.V380_S410del(1)|p.R394L(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTGGTCGGACCGGGAGAACTT	0.433000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				24	79					6.12954e-19	1.12888e-18	0.099896	1	0
LDLRAD2	401944	broad.mit.edu	37	1	22142456	22142456	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:22142456C>G	ENST00000344642.2	+	3	719	c.532C>G	c.(532-534)Cgc>Ggc	p.R178G	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.R178G	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	178	LDL-receptor class A.					integral to membrane	receptor activity	p.R178G(1)		endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		TGCCTACTTCCGCTGCCAGAA	0.627000													7	70					0	0	0.080935	0	0
FYB	2533	broad.mit.edu	37	5	39119135	39119135	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:39119135C>A	ENST00000351578.6	-	15	2294	c.2104G>T	c.(2104-2106)Gat>Tat	p.D702Y	FYB_ENST00000512982.1_Missense_Mutation_p.D748Y|FYB_ENST00000540520.1_Missense_Mutation_p.D758Y|FYB_ENST00000505428.1_Missense_Mutation_p.D748Y|FYB_ENST00000515010.1_Missense_Mutation_p.D702Y	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	702					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.D702Y(2)|p.D758Y(1)|p.D748Y(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)			ATTTCACCATCATACTAAAAA	0.279000													3	12					0.00909568	0.0096906	0.150653	1	0
SIAH2	6478	broad.mit.edu	37	3	150460046	150460046	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:150460046C>A	ENST00000312960.3	-	2	1384	c.857G>T	c.(856-858)gGt>gTt	p.G286V		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	286	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.G286V(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGCAGCCACACCGTCATGAAT	0.527000													8	65					1.12685e-05	1.45676e-05	0.047766	1	0
THSD7B	80731	broad.mit.edu	37	2	137928425	137928425	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:137928425C>A	ENST00000409968.1	+	7	1818	c.1640C>A	c.(1639-1641)gCa>gAa	p.A547E	THSD7B_ENST00000413152.2_Missense_Mutation_p.A516E|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000272643.3_Missense_Mutation_p.A547E|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B									p.A516E(1)|p.A547E(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGATGGCTGGCATCAGAAGGG	0.547000													6	29					0.00116845	0.0013046	0.217242	1	0
MTOR	2475	broad.mit.edu	37	1	11264722	11264722	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:11264722C>A	ENST00000361445.4	-	26	3916	c.3840G>T	c.(3838-3840)tgG>tgT	p.W1280C		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1280					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.W1280C(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GCCATTCCAGCCAGTCATCTT	0.582000													6	16					0.00307968	0.00335674	0.038147	1	0
LYST	1130	broad.mit.edu	37	1	235973489	235973489	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:235973489G>A	ENST00000389794.3	-	5	803	c.629C>T	c.(628-630)aCc>aTc	p.T210I	LYST_ENST00000536965.1_Missense_Mutation_p.T210I|LYST_ENST00000389793.2_Missense_Mutation_p.T210I			Q99698	LYST_HUMAN	lysosomal trafficking regulator	210					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.T210I(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGTTCTTTGGTTGCTAAGCG	0.433000													31	126					0	0	0.173368	0	0
XKR4	114786	broad.mit.edu	37	8	56436481	56436481	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:56436481T>A	ENST00000327381.5	+	3	1748	c.1648T>A	c.(1648-1650)Tcc>Acc	p.S550T		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	550						integral to membrane		p.S550T(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			ACGGTCCATCTCCAACAACCG	0.597000													9	33					0	0	0.047766	0	0
ASIC2	40	broad.mit.edu	37	17	31344625	31344625	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:31344625C>A	ENST00000225823.2	-	8	2391	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	ASIC2_ENST00000359872.6_Nonsense_Mutation_p.E456*	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	456					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	p.E507*(1)|p.E456*(1)|p.E456Q(1)|p.E507Q(1)								Amiloride(DB00594)	AATCTTACCTCATAAATATAA	0.473000													3	25					0.150653	0.15348	0.150653	1	0
SLC7A14	57709	broad.mit.edu	37	3	170184886	170184886	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:170184886T>C	ENST00000231706.4	-	8	2588	c.2273A>G	c.(2272-2274)gAg>gGg	p.E758G	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	758						integral to membrane	amino acid transmembrane transporter activity	p.E758G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AATCAGGGCCTCTGAGTTCTG	0.433000													31	106					0	0	0.214465	0	0
NETO1	81832	broad.mit.edu	37	18	70461637	70461637	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:70461637G>T	ENST00000327305.6	-	5	1129	c.472C>A	c.(472-474)Cct>Act	p.P158T	NETO1_ENST00000583169.1_Missense_Mutation_p.P158T|NETO1_ENST00000299430.2_Missense_Mutation_p.P157T	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	158					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.P158T(3)		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)		TTAAAGTCAGGATCTTAAAAA	0.299000													19	52					2.37509e-13	4.03931e-13	0.219247	1	0
HTR6	3362	broad.mit.edu	37	1	19992446	19992446	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:19992446C>T	ENST00000289753.1	+	1	667	c.200C>T	c.(199-201)tCg>tTg	p.S67L		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	67					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	p.S67L(1)		endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	TTCCTGGTGTCGCTCTTCACG	0.677000													5	10					0	0	0.217242	0	0
CLSTN2	64084	broad.mit.edu	37	3	140178589	140178589	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:140178589C>A	ENST00000458420.3	+	7	1390	c.1200C>A	c.(1198-1200)atC>atA	p.I400I	RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	400					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.I400I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AGGAAACCATCCTCTGCAACT	0.572000										HNSCC(16;0.037)			6	39					0.0215528	0.0226011	0.217242	1	0
PIK3R4	30849	broad.mit.edu	37	3	130463714	130463714	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:130463714G>A	ENST00000356763.3	-	2	906	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	117	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.R117C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AAGAATGGACGGGTACTGATG	0.453000													20	59					0	0	0.219247	0	0
GLRA4	441509	broad.mit.edu	37	X	102974075	102974075	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:102974075C>A	ENST00000372617.4	-	7	1263	c.843G>T	c.(841-843)atG>atT	p.M281I		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	281						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.M281I(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGGCAGCATCCATGTTGATCC	0.577000													21	81					0.000132079	0.000159364	0.204396	1	0
HRC	3270	broad.mit.edu	37	19	49657696	49657696	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:49657696T>C	ENST00000252825.4	-	1	985	c.799A>G	c.(799-801)Aga>Gga	p.R267G	HRC_ENST00000595625.1_Missense_Mutation_p.R267G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	267	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	p.R267G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GCCTGGTGTCTATATTCAATG	0.512000													22	21					0	0	0.076483	0	0
GH1	2688	broad.mit.edu	37	17	61995231	61995231	+	Silent	SNP	G	G	T	rs144610881		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:61995231G>T	ENST00000323322.5	-	4	387	c.345C>A	c.(343-345)ccC>ccA	p.P115P	GH1_ENST00000351388.4_Silent_p.P75P|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Intron|GH1_ENST00000458650.2_Silent_p.P100P	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	115					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	p.P115P(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GGAACTGCACGGGCTCCAGCC	0.607000													11	52					3.86212e-05	4.79819e-05	0.069234	1	0
MRC1	4360	broad.mit.edu	37	10	18138603	18138603	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:18138603G>T	ENST00000239761.3	+	7	1262	c.1159G>T	c.(1159-1161)Gct>Tct	p.A387S		NM_002438.2	NP_002429.1	P22897	MRC1_HUMAN	mannose receptor, C type 1	387	C-type lectin 2.				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity	p.A387S(1)		breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						CCAGAGGGATGCTCTGACCAC	0.478000													19	38					1.00905e-13	1.72811e-13	0.204396	1	0
TYW3	127253	broad.mit.edu	37	1	75229748	75229748	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:75229748A>T	ENST00000370867.3	+	6	820	c.731A>T	c.(730-732)gAt>gTt	p.D244V	TYW3_ENST00000421739.2_Missense_Mutation_p.D160V|TYW3_ENST00000479111.1_3'UTR|TYW3_ENST00000457880.2_Missense_Mutation_p.D211V	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	244					tRNA processing		methyltransferase activity	p.D244V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GAAAATGATGATGATGATGAT	0.323000													6	70					0	0	0.029380	0	0
CNTROB	116840	broad.mit.edu	37	17	7838353	7838353	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:7838353C>T	ENST00000380262.3	+	4	1409	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	CNTROB_ENST00000563694.1_Silent_p.L162L|CNTROB_ENST00000380255.3_Silent_p.L162L|CNTROB_ENST00000565740.1_Silent_p.L162L	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	162					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	p.L162L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AGCCCAAGCCCTGGAGGAGCT	0.552000													10	45					0	0	0.058154	0	0
RIMS2	9699	broad.mit.edu	37	8	104898239	104898239	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:104898239G>C	ENST00000507740.1	+	2	1072	c.836G>C	c.(835-837)cGg>cCg	p.R279P	RIMS2_ENST00000406091.3_Missense_Mutation_p.R471P|RIMS2_ENST00000436393.2_Missense_Mutation_p.R249P|RIMS2_ENST00000262231.10_Missense_Mutation_p.R279P	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	502					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R279P(2)|p.R249P(1)|p.R471P(1)|p.R507P(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAAACAAAACGGGAAAAAATG	0.443000										HNSCC(12;0.0054)			5	35					0	0	0.217242	0	0
EVPL	2125	broad.mit.edu	37	17	74010647	74010647	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:74010647C>A	ENST00000301607.3	-	18	2486	c.2233G>T	c.(2233-2235)Gtg>Ttg	p.V745L	EVPL_ENST00000586740.1_Missense_Mutation_p.V767L	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	745	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	p.V745L(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCATCCTGCACCACCTTCTCC	0.647000													9	25					2.17888e-05	2.76557e-05	0.058154	1	0
UMOD	7369	broad.mit.edu	37	16	20352594	20352594	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:20352594G>T	ENST00000396134.2	-	8	1618	c.1495C>A	c.(1495-1497)Cct>Act	p.P499T	UMOD_ENST00000396138.4_Missense_Mutation_p.P515T|UMOD_ENST00000424589.1_Missense_Mutation_p.P499T|UMOD_ENST00000570689.1_Missense_Mutation_p.P466T|UMOD_ENST00000302509.4_Missense_Mutation_p.P466T|UMOD_ENST00000396142.2_Missense_Mutation_p.P466T|UMOD_ENST00000570331.1_5'UTR	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	466	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.P466T(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GTGTAGGAAGGGGTCTGGAAG	0.612000													9	32					0.000673444	0.000759438	0.069234	1	0
PAK7	57144	broad.mit.edu	37	20	9560984	9560984	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:9560984C>A	ENST00000378429.3	-	5	1344	c.798G>T	c.(796-798)agG>agT	p.R266S	PAK7_ENST00000378423.1_Missense_Mutation_p.R266S|PAK7_ENST00000353224.5_Missense_Mutation_p.R266S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	266	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.R266S(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACTTTGGCCTCCTGTCATAGT	0.567000													11	40					1.58986e-06	2.1641e-06	0.069234	1	0
MYO3B	140469	broad.mit.edu	37	2	171240296	171240296	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:171240296A>G	ENST00000334231.6	+	12	1289	c.1289A>G	c.(1288-1290)cAg>cGg	p.Q430R	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.Q421R|MYO3B_ENST00000409044.3_Missense_Mutation_p.Q421R			Q8WXR4	MYO3B_HUMAN	myosin IIIB	421	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	p.Q421R(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCTGCTTACCAGTGCATGGTT	0.453000													8	48					0	0	0.047766	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433159	104433159	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:104433159T>A	ENST00000361820.3	-	3	2135	c.1535A>T	c.(1534-1536)aAg>aTg	p.K512M		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	512					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.K512M(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CAAGTGTAGCTTACTTGGATG	0.517000													17	74					0	0	0.189662	0	0
FAT2	2196	broad.mit.edu	37	5	150922455	150922455	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:150922455C>A	ENST00000261800.5	-	9	8245	c.8233G>T	c.(8233-8235)Gac>Tac	p.D2745Y		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2745	Cadherin 24.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.D2745Y(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCCCTGTGTCTGGGTCTAGG	0.498000													26	43					2.41591e-17	4.36711e-17	0.099896	1	0
MYO3A	53904	broad.mit.edu	37	10	26457730	26457730	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:26457730A>T	ENST00000265944.5	+	28	3367	c.3201A>T	c.(3199-3201)agA>agT	p.R1067S	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1067	IQ 1.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.R1067S(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTTGTGTCAGAGCATTCTTGT	0.333000													6	49					0	0	0.217242	0	0
HTR3C	170572	broad.mit.edu	37	3	183774708	183774708	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:183774708C>A	ENST00000318351.1	+	5	469	c.435C>A	c.(433-435)agC>agA	p.S145R		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	145						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.S145R(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCTATATCAGCAGTGAAGGTC	0.483000													9	106					1.76689e-08	2.63238e-08	0.058154	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24874021	24874021	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:24874021C>A	ENST00000396432.2	-	26	5683	c.5197G>T	c.(5197-5199)Gtg>Ttg	p.V1733L		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1732	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	p.V1732L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ACATCAAACACTTTAGTTAAC	0.403000													22	117					5.45024e-15	9.5233e-15	0.083992	1	0
OR5T2	219464	broad.mit.edu	37	11	56000334	56000334	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:56000334C>T	ENST00000313264.4	-	1	403	c.328G>A	c.(328-330)Gcc>Acc	p.A110T		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A110T(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GAATAGCAGGCATCCACAGAA	0.393000													6	35					0	0	0.217242	0	0
KCNC2	3747	broad.mit.edu	37	12	75444272	75444272	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:75444272A>T	ENST00000549446.1	-	3	2193	c.1513T>A	c.(1513-1515)Tca>Aca	p.S505T	KCNC2_ENST00000540018.1_Missense_Mutation_p.S505T|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000393288.2_Missense_Mutation_p.S505T|KCNC2_ENST00000550433.1_Missense_Mutation_p.S505T|KCNC2_ENST00000548513.1_Missense_Mutation_p.S505T|KCNC2_ENST00000298972.1_Missense_Mutation_p.S505T|KCNC2_ENST00000350228.2_Missense_Mutation_p.S505T|KCNC2_ENST00000341669.3_Missense_Mutation_p.S505T	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	505					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.S505T(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AAAGTAGGTGAGCTTGCCTGA	0.423000													22	82					0	0	0.069288	0	0
LZTR1	8216	broad.mit.edu	37	22	21348288	21348288	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:21348288G>C	ENST00000215739.8	+	13	1788	c.1429G>C	c.(1429-1431)Gcg>Ccg	p.A477P	LZTR1_ENST00000389355.3_Missense_Mutation_p.A458P|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	477	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.A477P(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GATCACGCAGGCGCGGGAGAG	0.647000													5	11					0	0	0.217242	0	0
PHF12	57649	broad.mit.edu	37	17	27233534	27233534	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:27233534C>A	ENST00000332830.4	-	15	3492	c.2680_splice	c.e15-1	p.R894_splice	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1	Q96QT6	PHF12_HUMAN	PHD finger protein 12	894	Poly-Arg.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	p.R894S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCCGGCGGCGCCCTGGGAAAA	0.602000													3	20					0.184627	0.186922	0.184627	1	0
IGDCC4	57722	broad.mit.edu	37	15	65682616	65682616	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:65682616C>G	ENST00000352385.2	-	13	2494	c.2285G>C	c.(2284-2286)aGc>aCc	p.S762T		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	762	Fibronectin type-III 4.					integral to membrane|plasma membrane		p.S762T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGATGTGGAGCTGTTTGATTC	0.552000													11	25					0	0	0.080935	0	0
OTUD5	55593	broad.mit.edu	37	X	48783166	48783166	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:48783166C>A	ENST00000156084.4	-	6	1295	c.1235G>T	c.(1234-1236)cGg>cTg	p.R412L	OTUD5_ENST00000428668.2_Missense_Mutation_p.R190L|OTUD5_ENST00000376488.3_Missense_Mutation_p.R407L|OTUD5_ENST00000396743.3_Missense_Mutation_p.R407L	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	412					negative regulation of type I interferon production		cysteine-type peptidase activity	p.R383L(1)|p.R412L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						CTCCTGATCCCGCAACCACTG	0.567000													4	14					0.00024832	0.000293815	0.150653	1	0
SLC9A1	6548	broad.mit.edu	37	1	27432341	27432341	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:27432341C>A	ENST00000374086.3	-	5	1783	c.1520G>T	c.(1519-1521)gGg>gTg	p.G507V	SLC9A1_ENST00000545949.1_Intron|SLC9A1_ENST00000263980.3_Intron			P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	10					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	gTGAGGGTCCCCAAGGCAAGG	0.557000													4	15					0.000602214	0.000684377	0.184627	1	0
TOX2	84969	broad.mit.edu	37	20	42635430	42635430	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:42635430A>T	ENST00000358131.5	+	3	644	c.436A>T	c.(436-438)Acg>Tcg	p.T146S	TOX2_ENST00000341197.3_Missense_Mutation_p.T137S|TOX2_ENST00000372999.1_Missense_Mutation_p.T95S|TOX2_ENST00000423191.1_Missense_Mutation_p.T95S	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.T95S(1)|p.T146S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CCAGCTGCCCACGGTGAGTCC	0.572000													4	13					0	0	0.184627	0	0
HECW1	23072	broad.mit.edu	37	7	43484068	43484068	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:43484068G>A	ENST00000395891.1	+	11	1902	c.1297G>A	c.(1297-1299)Gtg>Atg	p.V433M	HECW1_ENST00000453890.1_Missense_Mutation_p.V433M	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	433					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.V412M(1)|p.V433M(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CATGGTCTCTGTGGGACCTGA	0.622000													7	19					0	0	0.029380	0	0
DCHS2	54798	broad.mit.edu	37	4	155256183	155256183	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:155256183G>T	ENST00000357232.3	-	8	1052	c.1053C>A	c.(1051-1053)gaC>gaA	p.D351E	DCHS2_ENST00000339452.1_Missense_Mutation_p.D850E|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	351	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D850D(1)|p.D850E(1)|p.D351D(1)|p.D351E(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCCCACCACCGTCTTGAGCAG	0.428000													7	41					0.00829132	0.00888529	0.069234	1	0
POM121L12	285877	broad.mit.edu	37	7	53103830	53103830	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:53103830C>A	ENST00000408890.4	+	1	482	c.466C>A	c.(466-468)Cag>Aag	p.Q156K		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	156								p.Q156K(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ATCCCCTGGACAGAGAgcccg	0.731000													7	19					8.12818e-05	9.85601e-05	0.029380	1	0
PTPRO	5800	broad.mit.edu	37	12	15733636	15733636	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:15733636C>T	ENST00000281171.4	+	22	3333	c.3003C>T	c.(3001-3003)taC>taT	p.Y1001Y	PTPRO_ENST00000544244.1_Silent_p.Y162Y|PTPRO_ENST00000542557.1_Silent_p.Y162Y|PTPRO_ENST00000348962.2_Silent_p.Y973Y|PTPRO_ENST00000442921.2_Silent_p.Y190Y|PTPRO_ENST00000445537.2_Silent_p.Y190Y	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1001	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.Y1001Y(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTCAGGGATACAACTCACCCC	0.438000													11	42					0	0	0.069234	0	0
NPAP1	23742	broad.mit.edu	37	15	24923342	24923342	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:24923342C>A	ENST00000329468.2	+	1	2802	c.2328C>A	c.(2326-2328)gcC>gcA	p.A776A		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.A776A(1)									AATTTGGGGCCCCTGATGGGC	0.552000													40	104					8.20599e-20	1.52665e-19	0.124865	1	0
HLA-DRA	3122	broad.mit.edu	37	6	32411630	32411630	+	Missense_Mutation	SNP	C	C	G	rs58547911		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:32411630C>G	ENST00000395388.2	+	4	817	c.708C>G	c.(706-708)atC>atG	p.I236M	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.I211M	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	236					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	p.I236M(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						TTGGGACCATCTTCATCATCA	0.537000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				38	46					0	0	0.193644	0	0
AMELX	265	broad.mit.edu	37	X	11316746	11316746	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:11316746C>A	ENST00000380712.3	+	6	333	c.265C>A	c.(265-267)Ccg>Acg	p.P89T	ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.P59T|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000380714.3_Missense_Mutation_p.P75T|ARHGAP6_ENST00000380736.1_Intron	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	75					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	p.P89T(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						ACAGCACCCCCCGACTCACAC	0.602000													23	51					3.62473e-10	5.75093e-10	0.234183	1	0
PLEKHG3	26030	broad.mit.edu	37	14	65210038	65210038	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:65210038G>C	ENST00000247226.7	+	15	3417	c.3109G>C	c.(3109-3111)Ggc>Cgc	p.G1037R	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.G598R|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.G1093R|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.G626R	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1093					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.G1037R(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ACCTCTGTCGGGCAGGGTGGG	0.736000													5	17					0	0	0.217242	0	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802904	31802904	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr21:31802904C>A	ENST00000334068.2	+	1	333	c.311C>A	c.(310-312)tCg>tAg	p.S104*		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	104						intermediate filament		p.S104*(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						TGCTGCTACTCGCTGGGAAAT	0.527000													11	14					6.40141e-05	7.87949e-05	0.080935	1	0
PCDHA13	56136	broad.mit.edu	37	5	140262359	140262359	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140262359C>A	ENST00000289272.2	+	1	506	c.506C>A	c.(505-507)aCc>aAc	p.T169N	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.T169N|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.T169N(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)			TCGGCATTGACCTACCGACTG	0.433000													13	34					1.5842e-08	2.37955e-08	0.105934	1	0
CACNA1I	8911	broad.mit.edu	37	22	40068257	40068257	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:40068257G>A	ENST00000336649.4	+	30	4611	c.4611G>A	c.(4609-4611)gtG>gtA	p.V1537V	CACNA1I_ENST00000400164.3_Silent_p.V1496V|CACNA1I_ENST00000407673.1_Silent_p.V1496V|CACNA1I_ENST00000404898.1_Silent_p.V1496V|CACNA1I_ENST00000402142.3_Silent_p.V1531V|CACNA1I_ENST00000401624.1_Silent_p.V1531V			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1531					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.V1531V(1)|p.V1496V(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CTGTCTTTGTGCTGGAGGCTG	0.532000													47	120					0	0	0.139131	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626831	108626831	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:108626831C>A	ENST00000264047.2	+	9	1533	c.1257C>A	c.(1255-1257)ccC>ccA	p.P419P	SLC5A7_ENST00000540517.1_Silent_p.P314P|SLC5A7_ENST00000409059.1_Silent_p.P419P	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	419					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.P419P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTATCTTCCCCCAGCTGCTTT	0.498000													22	56					1.64293e-13	2.80389e-13	0.083992	1	0
OR2M4	26245	broad.mit.edu	37	1	248402423	248402423	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248402423C>T	ENST00000306687.1	+	1	193	c.193C>T	c.(193-195)Caa>Taa	p.Q65*		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q65*(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTCCTCAGTCAACTGTCCCT	0.478000													15	112					0	0	0.146539	0	0
KIAA1468	57614	broad.mit.edu	37	18	59931285	59931285	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:59931285A>T	ENST00000256858.6	+	17	2662	c.2414A>T	c.(2413-2415)gAg>gTg	p.E805V	KIAA1468_ENST00000398130.2_Missense_Mutation_p.E805V			Q9P260	K1468_HUMAN	KIAA1468	805							binding	p.E805V(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GGAAGTCGTGAGCAATTGGCA	0.423000													12	27					0	0	0.093190	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808309	18808309	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:18808309G>T	ENST00000400664.1	+	1	886	c.834G>T	c.(832-834)gcG>gcT	p.A278A		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	278						integral to membrane		p.A278A(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TACAGAAGGCGGAGGGGGTTG	0.592000													12	91					7.93312e-07	1.0982e-06	0.119110	1	0
POMGNT2	84892	broad.mit.edu	37	3	43121603	43121603	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:43121603C>A	ENST00000344697.2	-	2	1666	c.1321G>T	c.(1321-1323)Gag>Tag	p.E441*	GTDC2_ENST00000441964.1_Nonsense_Mutation_p.E441*	NM_032806.4	NP_116195.2												p.E441*(1)									AAGAGCCACTCGGGGTTCCGG	0.632000													5	15					1.6384e-10	2.62789e-10	0.029380	1	0
L1CAM	3897	broad.mit.edu	37	X	153129776	153129776	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:153129776C>A	ENST00000370060.1	-	25	3512		c.e25+1		L1CAM_ENST00000370055.1_Splice_Site|L1CAM_ENST00000361699.4_Splice_Site|L1CAM_ENST00000361981.3_Splice_Site|L1CAM_ENST00000370057.3_Splice_Site|L1CAM_ENST00000538883.1_Splice_Site|L1CAM_ENST00000543994.1_Splice_Site	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule						axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.?(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGCGCCTCACCTGTGCCATT	0.592000													21	91					2.70639e-06	3.63997e-06	0.069288	1	0
OR6K3	391114	broad.mit.edu	37	1	158687470	158687470	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158687470C>A	ENST00000368146.1	-	1	483	c.484G>T	c.(484-486)Gca>Tca	p.A162S	OR6K3_ENST00000368145.1_Missense_Mutation_p.A146S			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A162S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CAGGAACCTGCAGAGAGTTGA	0.512000													19	68					8.00594e-06	1.04792e-05	0.189662	1	0
LAMA2	3908	broad.mit.edu	37	6	129513901	129513901	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:129513901A>G	ENST00000421865.2	+	12	1734	c.1685A>G	c.(1684-1686)gAc>gGc	p.D562G		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	562	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.D562G(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)		GACGACTTGGACTCACCTCAG	0.557000													6	12					0	0	0.217242	0	0
GABRA4	2557	broad.mit.edu	37	4	46930427	46930427	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:46930427C>A	ENST00000264318.3	-	9	2462	c.1480G>T	c.(1480-1482)Ggg>Tgg	p.G494W		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	494					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.G494W(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCAGTAGCCCCTATGGTATTA	0.468000													13	51					0.000151284	0.000181939	0.105934	1	0
TMEM132E	124842	broad.mit.edu	37	17	32956090	32956090	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:32956090G>T	ENST00000321639.5	+	5	1263	c.935G>T	c.(934-936)aGc>aTc	p.S312I		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	312						integral to membrane		p.S312I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		AACTTCACCAGCCAGTCAGTC	0.607000													14	67					7.93312e-07	1.0982e-06	0.119110	1	0
SPDL1	54908	broad.mit.edu	37	5	169028523	169028523	+	Missense_Mutation	SNP	G	G	T	rs143182474		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:169028523G>T	ENST00000265295.4	+	11	1843	c.1564G>T	c.(1564-1566)Gtg>Ttg	p.V522L		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1									p.V522L(1)|p.V522M(1)									AAATCTGCCCGTGGATATGCA	0.428000													12	31					5.50884e-06	7.22357e-06	0.093190	1	0
XIRP2	129446	broad.mit.edu	37	2	168104699	168104699	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:168104699C>A	ENST00000409195.1	+	9	6886	c.6797C>A	c.(6796-6798)gCa>gAa	p.A2266E	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.A2266E|XIRP2_ENST00000409273.1_Missense_Mutation_p.A2044E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2091					actin cytoskeleton organization	cell junction	actin binding	p.A2266E(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						TTAAAAATGGCAATGGAAAGG	0.418000													3	34					0.115264	0.118414	0.115264	1	0
ELMOD1	55531	broad.mit.edu	37	11	107535886	107535886	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:107535886C>A	ENST00000265840.7	+	12	1233	c.968C>A	c.(967-969)cCa>cAa	p.P323Q	ELMOD1_ENST00000531234.1_Missense_Mutation_p.P317Q|ELMOD1_ENST00000443271.2_Missense_Mutation_p.P315Q	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	323					phagocytosis	cytoskeleton	GTPase activator activity	p.P323Q(1)		endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		GCGCTGTGCCCACATTTTGCT	0.483000													11	80					1.58986e-06	2.1641e-06	0.069234	1	0
SPAG6	9576	broad.mit.edu	37	10	22678165	22678165	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:22678165G>T	ENST00000376603.2	+	7	1299	c.1157G>T	c.(1156-1158)cGg>cTg	p.R386L	SPAG6_ENST00000538630.1_Missense_Mutation_p.R285L|SPAG6_ENST00000376624.3_Missense_Mutation_p.R310L|SPAG6_ENST00000313311.6_Missense_Mutation_p.R310L|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Intron			O75602	SPAG6_HUMAN	sperm associated antigen 6	310					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	p.R310L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GGGAACACACGGCTGCCTGGC	0.483000													9	35					1.12685e-05	1.45676e-05	0.047766	1	0
SMC5	23137	broad.mit.edu	37	9	72967157	72967157	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:72967157C>T	ENST00000361138.5	+	25	3274	c.3216C>T	c.(3214-3216)taC>taT	p.Y1072Y	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	1072					DNA recombination|DNA repair	chromosome|nucleus	ATP binding	p.Y1072Y(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TGTTTGTCTACAATGGCCCTC	0.358000													15	96					0	0	0.119110	0	0
KIAA1328	57536	broad.mit.edu	37	18	34753036	34753036	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:34753036C>T	ENST00000591619.1	+	9	2289	c.1503C>T	c.(1501-1503)acC>acT	p.T501T	KIAA1328_ENST00000435985.2_Silent_p.T257T|KIAA1328_ENST00000543923.1_Silent_p.T397T|KIAA1328_ENST00000280020.5_Silent_p.T505T|KIAA1328_ENST00000586135.1_Silent_p.T257T			Q86T90	K1328_HUMAN	KIAA1328	505								p.T505T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TACAGCACACCACCTCCCGGT	0.398000													7	48					0	0	0.029380	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762366	130762366	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:130762366G>A	ENST00000392429.1	+	2	3177	c.799G>A	c.(799-801)Gat>Aat	p.D267N	TMEM200A_ENST00000545622.1_Missense_Mutation_p.D267N|TMEM200A_ENST00000296978.3_Missense_Mutation_p.D267N	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	267						integral to membrane		p.D267N(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GACAACTGATGATAAGACCAG	0.433000													16	38					0	0	0.189662	0	0
TRPA1	8989	broad.mit.edu	37	8	72966087	72966087	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:72966087C>A	ENST00000262209.4	-	13	1752	c.1545G>T	c.(1543-1545)tgG>tgT	p.W515C	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	515						integral to plasma membrane		p.W515C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCAAAGCTGTCCAGCCATTGT	0.463000													3	10					0.004672	0.00503244	0.115264	1	0
LPAR3	23566	broad.mit.edu	37	1	85331308	85331308	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:85331308C>A	ENST00000440886.1	-	1	534	c.496G>T	c.(496-498)Ggc>Tgc	p.G166C	LPAR3_ENST00000370611.3_Missense_Mutation_p.G166C|LPAR3_ENST00000491034.1_Intron			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	166					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		p.G166C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CAATTCCAGCCCAGTGTGGGG	0.542000													24	105					1.42536e-11	2.35312e-11	0.099896	1	0
HRC	3270	broad.mit.edu	37	19	49657763	49657763	+	Silent	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:49657763T>C	ENST00000252825.4	-	1	918	c.732A>G	c.(730-732)gaA>gaG	p.E244E	HRC_ENST00000595625.1_Silent_p.E244E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	244	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	p.E244E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		cgtcatcttcttcatGGCCTT	0.522000													17	16					0	0	0.146539	0	0
ZNF652	22834	broad.mit.edu	37	17	47376118	47376118	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:47376118C>A	ENST00000362063.2	-	6	1796	c.1478G>T	c.(1477-1479)cGg>cTg	p.R493L	ZNF652_ENST00000430262.2_Missense_Mutation_p.R493L	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R493L(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GCTGGTCACCCGAAAGCACTT	0.572000													9	23					1.76689e-08	2.63238e-08	0.058154	1	0
OR10J3	441911	broad.mit.edu	37	1	159283942	159283942	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:159283942A>T	ENST00000332217.5	-	1	507	c.508T>A	c.(508-510)Tgt>Agt	p.C170S		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C170S(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAGGCATCACAGAATGGCAGG	0.502000													9	33					0	0	0.058154	0	0
EXOC8	149371	broad.mit.edu	37	1	231473215	231473215	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:231473215C>G	ENST00000366645.1	-	1	383	c.265G>C	c.(265-267)Gag>Cag	p.E89Q	SPRTN_ENST00000391858.4_5'UTR|EXOC8_ENST00000360394.2_Missense_Mutation_p.E93Q			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	93					exocytosis|protein transport	growth cone|nucleus	protein binding	p.E93Q(1)		cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CTTTTCTGCTCGGTCAGCAAA	0.637000													6	33					0	0	0.217242	0	0
HOXA5	3202	broad.mit.edu	37	7	27183050	27183050	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:27183050C>A	ENST00000222726.3	-	1	237	c.177G>T	c.(175-177)tcG>tcT	p.S59S	HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA3_ENST00000467897.2_Intron	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	59					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S59S(1)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GGCCGGAGCCCGAGCGGCCGA	0.687000													5	28					8.12818e-05	9.85601e-05	0.029380	1	0
TRGC1	6966	broad.mit.edu	37	7	38305109	38305109	+	RNA	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:38305109G>A	ENST00000443402.2	-	0	170					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TTCCCCTCCTGGGATCCCAGA	0.423000													67	80					0	0	0.139131	0	0
IGF2R	3482	broad.mit.edu	37	6	160517644	160517644	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:160517644G>T	ENST00000356956.1	+	45	6977	c.6829G>T	c.(6829-6831)Gtg>Ttg	p.V2277L	IGF2R_ENST00000475584.1_3'UTR	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2277					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	p.V2277L(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CACCTCAGCCGTGTGTCCTCT	0.512000													9	32					0.000673444	0.000759438	0.069234	1	0
CLCN1	1180	broad.mit.edu	37	7	143047529	143047529	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:143047529A>T	ENST00000343257.2	+	21	2555	c.2468A>T	c.(2467-2469)cAg>cTg	p.Q823L		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	823	CBS 2.				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.Q823L(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGTATTGACCAGTCTCCCTTC	0.562000													5	27					0	0	0.184627	0	0
CLASP2	23122	broad.mit.edu	37	3	33558651	33558651	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:33558651T>A	ENST00000399362.4	-	35	4177	c.3824A>T	c.(3823-3825)cAt>cTt	p.H1275L	CLASP2_ENST00000480013.1_Missense_Mutation_p.H1055L|CLASP2_ENST00000468888.2_Missense_Mutation_p.H1276L|CLASP2_ENST00000539981.1_Missense_Mutation_p.H1045L|CLASP2_ENST00000461133.3_Missense_Mutation_p.H1035L|CLASP2_ENST00000359576.5_Missense_Mutation_p.H1267L|CLASP2_ENST00000307312.7_Missense_Mutation_p.H757L	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1277								p.H1268L(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TAGGTCAGAATGATCTAGGGA	0.373000													12	14					0	0	0.093190	0	0
KLK7	5650	broad.mit.edu	37	19	51483572	51483572	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:51483572G>A	ENST00000391807.1	-	4	494	c.393C>T	c.(391-393)gtC>gtT	p.V131V	KLK7_ENST00000597707.1_Silent_p.V59V|KLK7_ENST00000595820.1_Silent_p.V131V|KLK7_ENST00000336317.4_Silent_p.V18V|CTB-147C22.9_ENST00000594512.1_RNA	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	131	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity	p.V131V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		AGGGCAGCCTGACTTTCTTCA	0.602000													15	18					0	0	0.146539	0	0
C8orf46	254778	broad.mit.edu	37	8	67408724	67408724	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:67408724G>T	ENST00000305454.3	+	2	564	c.123G>T	c.(121-123)aaG>aaT	p.K41N	C8orf46_ENST00000482608.2_3'UTR|C8orf46_ENST00000522977.1_Missense_Mutation_p.K41N|C8orf46_ENST00000480005.1_Missense_Mutation_p.K41N|C8orf46_ENST00000521495.1_Missense_Mutation_p.K41N	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	41								p.K40N(1)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TCTTGACCAAGAATGTAAGGA	0.448000													6	45					2.7689e-08	4.1085e-08	0.029380	1	0
MTNR1A	4543	broad.mit.edu	37	4	187455454	187455454	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:187455454C>T	ENST00000307161.5	-	2	643	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	148					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity	p.V148M(2)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	ATGAGGAGCACGTAGCAGAGG	0.572000													9	37					0	0	0.069234	0	0
LPHN2	23266	broad.mit.edu	37	1	82418681	82418681	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:82418681G>T	ENST00000370728.1	+	12	2438	c.1793G>T	c.(1792-1794)cGa>cTa	p.R598L	LPHN2_ENST00000370730.1_Missense_Mutation_p.R598L|LPHN2_ENST00000335786.5_Missense_Mutation_p.R598L|LPHN2_ENST00000394879.1_Intron|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.R598L|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.R598L|LPHN2_ENST00000271029.4_Missense_Mutation_p.R598L|LPHN2_ENST00000370725.1_Missense_Mutation_p.R598L|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370721.1_Intron			O95490	LPHN2_HUMAN	latrophilin 2	598					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTCCAAAAACGAGAGAAGACA	0.403000													5	30					0.217242	0.219337	0.217242	1	0
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3593445	3593445	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:3593445C>A	ENST00000550383.1	-	6	722		c.e6-1		P2RX5_ENST00000547178.1_Splice_Site|P2RX5_ENST00000552276.1_Splice_Site|P2RX5_ENST00000552050.1_Splice_Site|P2RX5_ENST00000551178.1_Splice_Site|P2RX5_ENST00000550772.1_Splice_Site|P2RX5_ENST00000435558.1_Splice_Site|P2RX5_ENST00000345901.3_Splice_Site|P2RX5_ENST00000225328.5_Splice_Site														p.?(1)									GAATGGCTCCCTGAAAACCAA	0.577000													29	79					3.65163e-15	6.42652e-15	0.116897	1	0
VENTX	27287	broad.mit.edu	37	10	135051581	135051581	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:135051581C>A	ENST00000325980.9	+	1	674	c.163C>A	c.(163-165)Cgg>Agg	p.R55R		NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	55					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R55R(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		ATCCGGCGCCCGGGAGCCCCC	0.726000													5	3					0.184627	0.186922	0.184627	1	0
BCLAF1	9774	broad.mit.edu	37	6	136599485	136599485	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:136599485C>A	ENST00000531224.1	-	4	786	c.534G>T	c.(532-534)ccG>ccT	p.P178P	BCLAF1_ENST00000527536.1_Silent_p.P178P|BCLAF1_ENST00000392348.2_Silent_p.P176P|BCLAF1_ENST00000353331.4_Silent_p.P176P|BCLAF1_ENST00000527759.1_Silent_p.P176P|BCLAF1_ENST00000530767.1_Silent_p.P178P	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	178					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.P178P(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TACTTTTCAACGGACTCTCTT	0.413000													19	164					2.35188e-11	3.86098e-11	0.175082	1	0
GRIK4	2900	broad.mit.edu	37	11	120732757	120732757	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:120732757C>T	ENST00000527524.2	+	9	1121	c.834C>T	c.(832-834)ttC>ttT	p.F278F	GRIK4_ENST00000438375.2_Silent_p.F278F			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	278					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.F278F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	ATGCTTTCTTCCAAGAGTTTG	0.527000													23	182					0	0	0.099896	0	0
GPR50	9248	broad.mit.edu	37	X	150349713	150349713	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:150349713C>A	ENST00000218316.3	+	2	1727	c.1658C>A	c.(1657-1659)cCt>cAt	p.P553H		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	553	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.P553H(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGCCCACCCTGTGTCTGAC	0.637000													13	49					0.00136819	0.00152414	0.093190	1	0
SI	6476	broad.mit.edu	37	3	164777083	164777083	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:164777083G>T	ENST00000264382.3	-	11	1213	c.1151C>A	c.(1150-1152)aCa>aAa	p.T384K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	384	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.T384K(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGTGACCTGTGTATCCTGAAA	0.343000										HNSCC(35;0.089)			20	34					5.45024e-15	9.5233e-15	0.083992	1	0
IL17F	112744	broad.mit.edu	37	6	52103604	52103604	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:52103604C>A	ENST00000336123.4	-	2	285	c.178G>T	c.(178-180)Ggc>Tgc	p.G60C		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	60					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity	p.G60C(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TTGATGATGCCAATGTCAAGC	0.493000													12	21					9.31168e-06	1.21449e-05	0.105934	1	0
MRAP2	112609	broad.mit.edu	37	6	84772676	84772676	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:84772676G>T	ENST00000257776.4	+	3	327	c.192G>T	c.(190-192)ctG>ctT	p.L64L		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	64					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	p.L64L(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						TTTTTGTGCTGACCTTGCTGA	0.413000													12	47					5.50884e-06	7.22357e-06	0.093190	1	0
PCSK5	5125	broad.mit.edu	37	9	78710913	78710913	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:78710913C>T	ENST00000545128.1	+	8	1540	c.1002C>T	c.(1000-1002)tcC>tcT	p.S334S	PCSK5_ENST00000376752.4_Silent_p.S334S|PCSK5_ENST00000376767.3_Silent_p.S334S	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	334	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.S334S(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ACACCATCTCCATCAGCAGCA	0.532000													4	35					0	0	0.150653	0	0
D2HGDH	728294	broad.mit.edu	37	2	242689675	242689675	+	Silent	SNP	C	C	G	rs141524359		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:242689675C>G	ENST00000321264.4	+	7	1172	c.963C>G	c.(961-963)gtC>gtG	p.V321V	D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Silent_p.V187V	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	321					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	p.V321V(1)		breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		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)		TGCAGCTGGTCGGGCGCCATC	0.612000													7	39					0	0	0.069234	0	0
MAT2B	27430	broad.mit.edu	37	5	162939126	162939126	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:162939126G>T	ENST00000518095.1	+	2	255	c.182G>T	c.(181-183)aGa>aTa	p.R61I	MAT2B_ENST00000518731.1_Missense_Mutation_p.R50I|MAT2B_ENST00000321757.6_Missense_Mutation_p.R61I|MAT2B_ENST00000280969.5_Missense_Mutation_p.R50I			Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	61					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding	p.R50I(1)		endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGTGGTTTCAGAAGAGCAAGA	0.393000													27	53					1.26454e-06	1.74068e-06	0.108266	1	0
AGFG2	3268	broad.mit.edu	37	7	100151090	100151090	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:100151090G>T	ENST00000300176.4	+	4	674	c.552G>T	c.(550-552)ccG>ccT	p.P184P	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	184					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.P184P(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATCCTGCACCGTCTCTCTCAG	0.552000													18	51					1.67942e-08	2.51483e-08	0.175082	1	0
LPHN3	23284	broad.mit.edu	37	4	62845314	62845314	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:62845314G>T	ENST00000512091.1	+	17	3382	c.2635G>T	c.(2635-2637)Gtg>Ttg	p.V879L	LPHN3_ENST00000508693.1_Missense_Mutation_p.V947L|LPHN3_ENST00000506720.1_Missense_Mutation_p.V947L|LPHN3_ENST00000514996.1_Missense_Mutation_p.V879L|LPHN3_ENST00000504896.1_Missense_Mutation_p.V879L|LPHN3_ENST00000508946.1_Missense_Mutation_p.V879L|LPHN3_ENST00000506700.1_Missense_Mutation_p.V879L|LPHN3_ENST00000506746.1_Missense_Mutation_p.V947L|LPHN3_ENST00000509896.1_Missense_Mutation_p.V947L|LPHN3_ENST00000507625.1_Missense_Mutation_p.V947L|LPHN3_ENST00000514591.1_Missense_Mutation_p.V879L|LPHN3_ENST00000514157.1_Missense_Mutation_p.V879L|LPHN3_ENST00000507164.1_Missense_Mutation_p.V947L|LPHN3_ENST00000511324.1_Missense_Mutation_p.V947L|LPHN3_ENST00000545650.1_Missense_Mutation_p.V879L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	866					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.V879L(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCTTCTGGATGTGATCACGTG	0.448000													38	144					1.20271e-06	1.65867e-06	0.104719	1	0
UBXN1	51035	broad.mit.edu	37	11	62444224	62444224	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62444224C>A	ENST00000294119.2	-	8	1036	c.905G>T	c.(904-906)gGa>gTa	p.G302V	UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000301935.5_Intron|UBXN1_ENST00000529640.1_Intron	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	120					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	p.G302V(1)		endometrium(5)|lung(12)	17						CCCTCCTTTTCCTAGGCATGC	0.512000													16	86					3.52763e-06	4.72284e-06	0.160694	1	0
NR4A2	4929	broad.mit.edu	37	2	157183359	157183359	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:157183359G>A	ENST00000339562.4	-	6	1594	c.1232C>T	c.(1231-1233)aCt>aTt	p.T411I	NR4A2_ENST00000429376.1_Missense_Mutation_p.T348I|NR4A2_ENST00000539077.1_Missense_Mutation_p.T422I|NR4A2_ENST00000426264.1_Missense_Mutation_p.T348I|NR4A2_ENST00000409572.1_Missense_Mutation_p.T411I|NR4A2_ENST00000409108.2_Missense_Mutation_p.T411I	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	411	Ligand-binding (Potential).				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.T411I(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CATGGAGCCAGTCAGGAGATC	0.483000													18	94					0	0	0.175082	0	0
C9	735	broad.mit.edu	37	5	39306837	39306837	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:39306837G>C	ENST00000263408.4	-	9	1393	c.1298C>G	c.(1297-1299)aCc>aGc	p.T433S		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	433	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		p.T433S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ATATTTTCTGGTTCCACCTCT	0.398000													4	60					0	0	0.184627	0	0
C20orf85	128602	broad.mit.edu	37	20	56728608	56728608	+	Missense_Mutation	SNP	G	G	T	rs16984945	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:56728608G>T	ENST00000371168.3	+	2	138	c.77G>T	c.(76-78)cGt>cTt	p.R26L		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	26			R -> H (in dbSNP:rs16984945).					p.R26L(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			AGGAAATACCGTCTGAAGGCT	0.483000													25	116					3.65163e-15	6.42652e-15	0.116897	1	0
PSMD1	5707	broad.mit.edu	37	2	231926996	231926996	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:231926996A>G	ENST00000308696.6	+	3	257	c.95A>G	c.(94-96)aAt>aGt	p.N32S	PSMD1_ENST00000409643.1_Missense_Mutation_p.N32S|PSMD1_ENST00000373635.4_Missense_Mutation_p.N32S	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	32					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	p.N32S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GCAGTTGTTAATGACTTCTGG	0.299000													4	15					0	0	0.150653	0	0
PAQR9	344838	broad.mit.edu	37	3	142681453	142681453	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:142681453C>A	ENST00000340634.3	-	1	725	c.726G>T	c.(724-726)ctG>ctT	p.L242L		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	242						integral to membrane	receptor activity	p.L242L(1)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CGAAGGTGCGCAGCGCGAACG	0.647000													7	47					0.0381472	0.0396061	0.038147	1	0
HERC2	8924	broad.mit.edu	37	15	28463681	28463681	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:28463681G>A	ENST00000261609.7	-	38	6090	c.5982C>T	c.(5980-5982)tgC>tgT	p.C1994C		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1994					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.C1994C(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)		GCAGCAGTCCGCATAAAGTCT	0.517000													4	95					0	0	0.150653	0	0
OXGR1	27199	broad.mit.edu	37	13	97639466	97639466	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr13:97639466C>A	ENST00000298440.1	-	4	791	c.548G>T	c.(547-549)tGt>tTt	p.C183F	OXGR1_ENST00000543457.1_Missense_Mutation_p.C183F	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	183						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.C183F(1)		NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			GAGGTCGAGACAGGCTGATCT	0.468000													8	25					0.000157383	0.000187733	0.038147	1	0
DLG5	9231	broad.mit.edu	37	10	79593690	79593690	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:79593690C>G	ENST00000372391.2	-	9	1735	c.1730G>C	c.(1729-1731)cGc>cCc	p.R577P	DLG5_ENST00000372388.2_Missense_Mutation_p.R577P	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	577					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	p.R577P(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTTCAGCTCGCGGCTGACATC	0.657000													9	43					0	0	0.047766	0	0
KIF11	3832	broad.mit.edu	37	10	94389969	94389969	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:94389969G>A	ENST00000260731.3	+	12	1432	c.1342G>A	c.(1342-1344)Gac>Aac	p.D448N		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	448					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	p.D448N(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAATGAACTTGACCAGTGTAA	0.299000													4	19					0	0	0.150653	0	0
POLR2A	5430	broad.mit.edu	37	17	7406782	7406782	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:7406782G>A	ENST00000322644.6	+	18	3406	c.3007G>A	c.(3007-3009)Gac>Aac	p.D1003N		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1003					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	p.D1003N(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCTTCCCTCCGACCTGCACCC	0.567000													6	22					0	0	0.038147	0	0
ABCA2	20	broad.mit.edu	37	9	139905127	139905127	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:139905127C>A	ENST00000265662.5	-	40	6266	c.6119G>T	c.(6118-6120)cGa>cTa	p.R2040L	ABCA2_ENST00000341511.6_Missense_Mutation_p.R2040L|ABCA2_ENST00000371605.3_Missense_Mutation_p.R2039L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2039					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R2040L(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCGGAGCACTCGCTGCCGCTC	0.632000													19	71					2.21704e-12	3.71873e-12	0.076483	1	0
ITGB2	3689	broad.mit.edu	37	21	46308663	46308663	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr21:46308663C>A	ENST00000397850.2	-	15	2477	c.2025G>T	c.(2023-2025)acG>acT	p.T675T	ITGB2_ENST00000302347.5_Silent_p.T675T|ITGB2_ENST00000397854.3_Silent_p.T618T|ITGB2_ENST00000397852.1_Silent_p.T675T|ITGB2_ENST00000397857.1_Silent_p.T675T|ITGB2_ENST00000355153.4_Silent_p.T675T			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	675					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	p.T675T(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCTGCTCCAGCGTGTAGGCCA	0.677000													8	33					0.00621372	0.00666372	0.058154	1	0
SPEF2	79925	broad.mit.edu	37	5	35691205	35691205	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:35691205A>G	ENST00000440995.2	+	11	1591	c.1591A>G	c.(1591-1593)Ata>Gta	p.I531V	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.I531V|SPEF2_ENST00000509059.1_Missense_Mutation_p.I531V			Q9C093	SPEF2_HUMAN	sperm flagellar 2	531					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.I531V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAACAATTGCATACTGGGCCA	0.398000													14	75					0	0	0.119110	0	0
SPATA32	124783	broad.mit.edu	37	17	43333141	43333141	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:43333141G>A	ENST00000543122.1	-	6	1126	c.345C>T	c.(343-345)ttC>ttT	p.F115F	MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|SPATA32_ENST00000331780.4_Silent_p.F136F|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA					spermatogenesis associated 32									p.F136F(1)									TCTCCTCCGTGAAACTCCGGC	0.567000													16	70					0	0	0.160694	0	0
OTOS	150677	broad.mit.edu	37	2	241078728	241078728	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:241078728G>T	ENST00000391989.2	-	5	359	c.129C>A	c.(127-129)tcC>tcA	p.S43S	OTOS_ENST00000319460.1_Silent_p.S43S			Q8NHW6	OTOSP_HUMAN	otospiralin	43						extracellular region		p.S43S(1)		endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AGTCAGAGGTGGAGAAAGGCC	0.617000													15	66					0.000422831	0.000493528	0.146539	1	0
UBA7	7318	broad.mit.edu	37	3	49845456	49845456	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:49845456G>A	ENST00000333486.3	-	20	2678	c.2520C>T	c.(2518-2520)gcC>gcT	p.A840A		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	840					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	p.A840A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGGTTACCTGGGCACGGTTGA	0.587000													5	9					0	0	0.217242	0	0
TDRD5	163589	broad.mit.edu	37	1	179659919	179659919	+	Silent	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:179659919A>G	ENST00000444136.1	+	18	3199	c.2949A>G	c.(2947-2949)gtA>gtG	p.V983V	TDRD5_ENST00000367614.1_Silent_p.V929V|TDRD5_ENST00000294848.8_Silent_p.V929V	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	929					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.V929V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AAGAATCTGTAGACCAGCTGT	0.443000													22	37					0	0	0.219247	0	0
PTK2	5747	broad.mit.edu	37	8	141754835	141754835	+	Missense_Mutation	SNP	C	C	A	rs146511319	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:141754835C>A	ENST00000522684.1	-	19	1779	c.1550G>T	c.(1549-1551)aGt>aTt	p.S517I	PTK2_ENST00000519465.1_Missense_Mutation_p.S145I|PTK2_ENST00000340930.3_Missense_Mutation_p.S517I|PTK2_ENST00000519419.1_Missense_Mutation_p.S561I|PTK2_ENST00000395218.2_Missense_Mutation_p.S517I|PTK2_ENST00000535192.1_Missense_Mutation_p.S517I|PTK2_ENST00000521059.1_Missense_Mutation_p.S517I|PTK2_ENST00000520151.1_Missense_Mutation_p.Q111H|PTK2_ENST00000517887.1_Missense_Mutation_p.S561I|PTK2_ENST00000538769.1_Missense_Mutation_p.S185I	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	517	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	p.S539I(1)|p.S517I(1)|p.S469I(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TAGATCCAAACTGTATTTCCT	0.348000													11	49					0.000978159	0.00110052	0.080935	1	0
EBF2	64641	broad.mit.edu	37	8	25715978	25715978	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:25715978G>C	ENST00000520164.1	-	14	1922	c.1385C>G	c.(1384-1386)tCt>tGt	p.S462C	EBF2_ENST00000408929.3_Missense_Mutation_p.S314C|EBF2_ENST00000535548.1_Missense_Mutation_p.S193C	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	462	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.S462C(4)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GGAGCTGGAAGAGTATCCCCG	0.517000													8	39					0	0	0.058154	0	0
CERK	64781	broad.mit.edu	37	22	47087660	47087660	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:47087660A>T	ENST00000216264.8	-	11	1253	c.1141T>A	c.(1141-1143)Tgg>Agg	p.W381R	CERK_ENST00000541677.1_Missense_Mutation_p.W183R|CERK_ENST00000471929.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	381					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	p.W381R(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGACTTGCCACTCCTCCACG	0.627000													8	10					0	0	0.047766	0	0
UBXN1	51035	broad.mit.edu	37	11	62444306	62444306	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62444306C>G	ENST00000294119.2	-	8	954	c.823G>C	c.(823-825)Gag>Cag	p.E275Q	UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000301935.5_Missense_Mutation_p.E275Q|UBXN1_ENST00000529640.1_Missense_Mutation_p.E271Q	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	275	Interaction with BRCA1.|UBX.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	p.E275Q(1)		endometrium(5)|lung(12)	17						AGAGGCCGCTCCATGTCAGCT	0.587000													24	106					0	0	0.091800	0	0
FLG2	388698	broad.mit.edu	37	1	152328896	152328896	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:152328896G>C	ENST00000388718.5	-	3	1438	c.1366C>G	c.(1366-1368)Cat>Gat	p.H456D	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	456	Ser-rich.						calcium ion binding|structural molecule activity	p.H456D(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTAGACTCATGCTGGCCACAA	0.488000													33	106					0	0	0.173368	0	0
STAB2	55576	broad.mit.edu	37	12	104136306	104136306	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:104136306C>A	ENST00000388887.2	+	56	6209	c.6005C>A	c.(6004-6006)cCg>cAg	p.P2002Q		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2002	Laminin EGF-like 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.P2002Q(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATGTGCTGGCCGGGGAGATTC	0.562000													21	76					1.85244e-09	2.87983e-09	0.083992	1	0
CD6	923	broad.mit.edu	37	11	60739346	60739346	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:60739346C>A	ENST00000313421.7	+	1	195	c.9C>A	c.(7-9)ctC>ctA	p.L3L	CD6_ENST00000344028.5_Silent_p.L3L|CD6_ENST00000352009.5_Silent_p.L3L|CD6_ENST00000346437.4_Silent_p.L3L|CD6_ENST00000452451.2_Silent_p.L3L|CD6_ENST00000545105.1_3'UTR	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	3					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	p.L3L(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						ACATGTGGCTCTTCTTCGGGA	0.662000													5	12					0.00116845	0.0013046	0.217242	1	0
MROH2B	133558	broad.mit.edu	37	5	41049430	41049430	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:41049430G>T	ENST00000399564.4	-	14	1903	c.1453C>A	c.(1453-1455)Cag>Aag	p.Q485K	MROH2B_ENST00000506092.2_Missense_Mutation_p.Q40K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.Q485K(1)									GCACTGTGCTGCTTCTTCTCC	0.453000													7	27					0.0135373	0.0143913	0.093190	1	0
HECTD4	283450	broad.mit.edu	37	12	112654893	112654893	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:112654893C>A	ENST00000550722.1	-	46	7138	c.6743G>T	c.(6742-6744)gGg>gTg	p.G2248V	HECTD4_ENST00000377560.5_Missense_Mutation_p.G2222V|HECTD4_ENST00000430131.2_Missense_Mutation_p.G1972V	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.G2222V(1)|p.G1972V(1)									CAGGCCTCCCCCAGCGCTGGG	0.547000													3	18					0.004672	0.00503244	0.115264	1	0
NOTCH4	4855	broad.mit.edu	37	6	32188337	32188337	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:32188337G>C	ENST00000375023.3	-	6	1142	c.1004C>G	c.(1003-1005)tCt>tGt	p.S335C		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	335	EGF-like 8; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.S335C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCTACCAGCAGAGTTCTGGCA	0.622000													18	46					0	0	0.234183	0	0
TRIM58	25893	broad.mit.edu	37	1	248039227	248039227	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248039227G>T	ENST00000366481.3	+	6	945	c.897G>T	c.(895-897)acG>acT	p.T299T	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	299	B30.2/SPRY.					intracellular	zinc ion binding	p.T299T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATCCCGCCACGGCGCACCCGA	0.542000													5	53					0.184627	0.186922	0.184627	1	0
CELSR1	9620	broad.mit.edu	37	22	46787142	46787142	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:46787142C>T	ENST00000262738.3	-	16	6190	c.6191G>A	c.(6190-6192)tGg>tAg	p.W2064*		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2064					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	p.W2064*(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTGTGGCCACCAGATGCCGGC	0.612000											OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	23					0	0	0.069234	0	0
UBXN1	51035	broad.mit.edu	37	11	62446048	62446048	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62446048C>A	ENST00000294119.2	-	3	270	c.139G>T	c.(139-141)Gat>Tat	p.D47Y	UBXN1_ENST00000301935.5_Missense_Mutation_p.D47Y|UBXN1_ENST00000529640.1_Missense_Mutation_p.D47Y|UBXN1_ENST00000524762.1_5'UTR	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	47	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	p.D47Y(1)		endometrium(5)|lung(12)	17						TCGTCCACATCGGGGTCGTCT	0.637000													7	40					0.000442599	0.000513331	0.058154	1	0
KCNK13	56659	broad.mit.edu	37	14	90650807	90650807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:90650807C>A	ENST00000282146.4	+	2	1128	c.687C>A	c.(685-687)taC>taA	p.Y229*		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	229						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.Y229*(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ACTCACTCTACTTCTGTTTTG	0.537000													9	63					0.00621372	0.00666372	0.058154	1	0
RASGEF1B	153020	broad.mit.edu	37	4	82366732	82366732	+	Silent	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:82366732T>A	ENST00000509081.1	-	8	1094	c.873A>T	c.(871-873)gtA>gtT	p.V291V	RASGEF1B_ENST00000264400.2_Silent_p.V292V|RASGEF1B_ENST00000335927.7_Silent_p.V250V			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	292	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	p.V292V(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						ACTCCCGAGCTACGTCAATGA	0.403000													21	71					0	0	0.234183	0	0
ASCC3	10973	broad.mit.edu	37	6	100964152	100964152	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:100964152G>T	ENST00000369162.2	-	39	6323	c.5979C>A	c.(5977-5979)atC>atA	p.I1993I		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1993					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.I1993I(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GAAGGGACTCGATGGAGGTCC	0.448000													16	47					1.15088e-07	1.65087e-07	0.146539	1	0
ZIC3	7547	broad.mit.edu	37	X	136649858	136649858	+	Silent	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:136649858G>C	ENST00000287538.5	+	1	1558	c.1008G>C	c.(1006-1008)ggG>ggC	p.G336G	ZIC3_ENST00000370606.3_Silent_p.G336G	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	336	Nuclear localization signal.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G336G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CGGGCTGCGGGAAGATCTTTG	0.592000													25	78					0	0	0.125774	0	0
ATP2B2	491	broad.mit.edu	37	3	10442757	10442757	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:10442757G>T	ENST00000397077.1	-	7	1236	c.661C>A	c.(661-663)Ctc>Atc	p.L221I	ATP2B2_ENST00000383800.4_Missense_Mutation_p.L221I|ATP2B2_ENST00000352432.4_Missense_Mutation_p.L221I|ATP2B2_ENST00000343816.4_Missense_Mutation_p.L221I|ATP2B2_ENST00000360273.2_Missense_Mutation_p.L221I			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	221					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.L221I(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCAGGGAGGAGGTCACCTGGC	0.567000													5	15					0.184627	0.186922	0.184627	1	0
MFSD1	64747	broad.mit.edu	37	3	158537473	158537473	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:158537473T>A	ENST00000415822.2	+	8	976	c.835T>A	c.(835-837)Ttg>Atg	p.L279M	MFSD1_ENST00000392813.4_Missense_Mutation_p.L240M|MFSD1_ENST00000264266.8_Missense_Mutation_p.L230M	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	230					transmembrane transport	integral to membrane		p.L230M(1)|p.L279M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AATCTGTGCCTTGGCTCTTGC	0.353000													15	23					0	0	0.146539	0	0
PTCHD2	57540	broad.mit.edu	37	1	11579514	11579514	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:11579514C>A	ENST00000294484.6	+	8	2130	c.1992C>A	c.(1990-1992)ccC>ccA	p.P664P	PTCHD2_ENST00000389575.3_Silent_p.P664P	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	664					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.P881P(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCCCCATACCCTACCTGGATG	0.647000													23	117					7.01153e-11	1.13579e-10	0.125774	1	0
NCK2	8440	broad.mit.edu	37	2	106498470	106498470	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:106498470G>T	ENST00000233154.4	+	4	1355	c.913G>T	c.(913-915)Gag>Tag	p.E305*	NCK2_ENST00000393349.2_Nonsense_Mutation_p.E305*|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000451463.2_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	305	SH2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	p.E305*(1)|p.V305L(1)		endometrium(1)|lung(3)|ovary(1)	5						GCGGGGCGTGGAGGGCGACTT	0.687000													5	19					8.12818e-05	9.85601e-05	0.029380	1	0
NAALAD2	10003	broad.mit.edu	37	11	89916115	89916115	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:89916115C>T	ENST00000534061.1	+	18	2202	c.1972C>T	c.(1972-1974)Ctg>Ttg	p.L658L	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Silent_p.L625L	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	658					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.L658L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GAATGACCAACTGATGCTCCT	0.388000													7	67					0	0	0.047766	0	0
IFIT1B	439996	broad.mit.edu	37	10	91143375	91143375	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:91143375C>G	ENST00000371809.3	+	2	385	c.305C>G	c.(304-306)gCc>gGc	p.A102G	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	102							binding	p.A102G(1)		endometrium(2)|large_intestine(3)|lung(8)	13						GGCAACTTTGCCTGGGTGTAT	0.478000													10	61					0	0	0.069234	0	0
MMP27	64066	broad.mit.edu	37	11	102573517	102573517	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:102573517C>G	ENST00000260229.4	-	4	677	c.586G>C	c.(586-588)Gat>Cat	p.D196H		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	196					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.D196H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TCATCCTCATCAAAATGAGTG	0.453000													20	75					0	0	0.234183	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182846	57182846	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:57182846G>T	ENST00000504228.1	+	6	3283	c.3178G>T	c.(3178-3180)Ggg>Tgg	p.G1060W	KIAA1211_ENST00000541073.1_Missense_Mutation_p.G1053W|KIAA1211_ENST00000264229.6_Missense_Mutation_p.G1060W			Q6ZU35	K1211_HUMAN	KIAA1211	1060								p.G1060W(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ACCCGAGGCCGGGAGGAAAGG	0.567000													3	15					0.115264	0.118414	0.115264	1	0
FNIP2	57600	broad.mit.edu	37	4	159780333	159780333	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:159780333A>T	ENST00000264433.6	+	9	1057	c.982A>T	c.(982-984)Aat>Tat	p.N328Y	FNIP2_ENST00000379346.3_Missense_Mutation_p.N351Y	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	328					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	p.N328Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AGCACAAAGGAATTTCCAGGA	0.393000													4	27					0	0	0.184627	0	0
BCHE	590	broad.mit.edu	37	3	165548187	165548187	+	Missense_Mutation	SNP	G	G	T	rs114706984	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:165548187G>T	ENST00000264381.3	-	2	801	c.635C>A	c.(634-636)gCc>gAc	p.A212D	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	212					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.A212D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TCCACCAAAGGCTGCTATATT	0.438000													35	59					1.58521e-26	2.99473e-26	0.225048	1	0
CLK4	57396	broad.mit.edu	37	5	178030931	178030931	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:178030931G>A	ENST00000316308.4	-	12	1387	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	407	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R407C(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		AAATACTTGCGTTTTCTACAG	0.398000													10	18					0	0	0.093190	0	0
NTM	50863	broad.mit.edu	37	11	132177605	132177605	+	Missense_Mutation	SNP	C	C	A	rs138880898		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:132177605C>A	ENST00000374786.1	+	4	1028	c.549C>A	c.(547-549)gaC>gaA	p.D183E	NTM_ENST00000374791.3_Missense_Mutation_p.D183E|NTM_ENST00000425719.2_Missense_Mutation_p.D183E|NTM_ENST00000539799.1_Missense_Mutation_p.D183E|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000427481.2_Missense_Mutation_p.D174E|NTM_ENST00000374784.1_Missense_Mutation_p.D183E	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	183	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.D183E(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TGAGTGAAGACGAATACTTGG	0.493000													5	32					0.000602214	0.000684377	0.184627	1	0
SHPRH	257218	broad.mit.edu	37	6	146275911	146275911	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:146275911C>T	ENST00000367503.3	-	2	946	c.548G>A	c.(547-549)gGt>gAt	p.G183D	SHPRH_ENST00000367505.2_Missense_Mutation_p.G183D|SHPRH_ENST00000438092.2_Missense_Mutation_p.G183D|SHPRH_ENST00000275233.7_Missense_Mutation_p.G183D	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	183					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.G183D(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TAACATTTCACCACTGAAGGA	0.358000													12	50					0	0	0.105934	0	0
MUC7	4589	broad.mit.edu	37	4	71346651	71346651	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:71346651A>G	ENST00000413702.1	+	4	478	c.190A>G	c.(190-192)Aaa>Gaa	p.K64E	MUC7_ENST00000304887.5_Missense_Mutation_p.K64E|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.K64E	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	64						extracellular region	protein binding	p.K64E(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AAAGTCCTATAAATGTCTGCA	0.443000													17	88					0	0	0.160694	0	0
CPA5	93979	broad.mit.edu	37	7	130007240	130007240	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:130007240C>A	ENST00000485477.1	+	10	1995	c.866C>A	c.(865-867)tCa>tAa	p.S289*	CPA5_ENST00000461828.1_Nonsense_Mutation_p.S289*|CPA5_ENST00000431780.2_Nonsense_Mutation_p.S289*|CPA5_ENST00000355388.3_Nonsense_Mutation_p.S289*|CPA5_ENST00000393213.3_Nonsense_Mutation_p.S289*|CPA5_ENST00000466363.2_Nonsense_Mutation_p.S289*|CPA5_ENST00000474905.1_Nonsense_Mutation_p.S289*			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	289					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.S289*(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					AACCCCTGCTCAGAAACTTAT	0.522000													4	38					0.00909568	0.0096906	0.150653	1	0
KLHL34	257240	broad.mit.edu	37	X	21674824	21674824	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:21674824C>A	ENST00000379499.2	-	1	1624	c.1083G>T	c.(1081-1083)gtG>gtT	p.V361V		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	361								p.V361V(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CCGCGGTGCACACGCTGTGCC	0.652000													4	17					1.23904e-05	1.58364e-05	0.184627	1	0
MYT1L	23040	broad.mit.edu	37	2	1926489	1926489	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:1926489G>T	ENST00000399161.2	-	10	1799	c.1052C>A	c.(1051-1053)cCg>cAg	p.P351Q	MYT1L_ENST00000428368.2_Missense_Mutation_p.P351Q	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	351					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P351Q(2)		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)		GTTCTGCTGCGGATTCCTCTC	0.572000													6	27					3.59834e-05	4.50483e-05	0.217242	1	0
KMT2C	58508	broad.mit.edu	37	7	151970887	151970887	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:151970887C>A	ENST00000355193.2	-	7	1133	c.915G>T	c.(913-915)atG>atT	p.M305I	KMT2C_ENST00000262189.6_Missense_Mutation_p.M305I					lysine (K)-specific methyltransferase 2C									p.M305I(4)									GATAATGATACATCTGGGTAC	0.433000													5	110					1.23904e-05	1.58364e-05	0.184627	1	0
PASK	23178	broad.mit.edu	37	2	242079351	242079351	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:242079351G>T	ENST00000403638.3	-	4	640	c.549C>A	c.(547-549)agC>agA	p.S183R	PASK_ENST00000539818.1_Intron|PASK_ENST00000234040.4_Missense_Mutation_p.S183R|PASK_ENST00000358649.4_Missense_Mutation_p.S183R|PASK_ENST00000544142.1_Intron|PASK_ENST00000405260.1_Missense_Mutation_p.S183R	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	183	PAS 1.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.S183R(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)		TGTGCTCCTCGCTGAGGGCCT	0.617000													4	23					0.000602214	0.000684377	0.184627	1	0
SLC22A12	116085	broad.mit.edu	37	11	64360942	64360942	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:64360942C>A	ENST00000377574.1	+	3	1319	c.572C>A	c.(571-573)gCc>gAc	p.A191D	SLC22A12_ENST00000336464.7_Intron|SLC22A12_ENST00000377572.1_Intron|SLC22A12_ENST00000473690.1_Intron|SLC22A12_ENST00000377567.2_Intron	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	191					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	p.A191D(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						ACGGCAGCTGCCTTCGCCCCT	0.617000													7	49					1.12685e-05	1.45676e-05	0.047766	1	0
KRT79	338785	broad.mit.edu	37	12	53215770	53215770	+	Missense_Mutation	SNP	C	C	A	rs141269667		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:53215770C>A	ENST00000330553.5	-	9	1528	c.1494G>T	c.(1492-1494)aaG>aaT	p.K498N		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	498	Tail.					keratin filament	structural molecule activity	p.K498N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGAATCCACCCTTGGTGGCCC	0.622000													12	28					4.36969e-10	6.90298e-10	0.105934	1	0
DAAM1	23002	broad.mit.edu	37	14	59757934	59757934	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:59757934G>T	ENST00000395125.1	+	2	206		c.e2-1		DAAM1_ENST00000351081.1_Splice_Site|DAAM1_ENST00000556135.1_Splice_Site|DAAM1_ENST00000360909.3_Splice_Site	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1						actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	p.?(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTTCTTCTCAGGATGAACTGG	0.338000													8	13					1.06961e-07	1.5464e-07	0.038147	1	0
CNGA3	1261	broad.mit.edu	37	2	99013598	99013598	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:99013598G>A	ENST00000393504.1	+	8	2382	c.1965G>A	c.(1963-1965)caG>caA	p.Q655Q	CNGA3_ENST00000409937.1_Silent_p.Q659Q|CNGA3_ENST00000272602.2_Silent_p.Q655Q|CNGA3_ENST00000436404.2_Silent_p.Q637Q	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	655					signal transduction|visual perception	integral to membrane	cGMP binding	p.Q655Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ACGCCACCCAGATGAAGATGA	0.592000													6	21					0	0	0.029380	0	0
OR2G6	391211	broad.mit.edu	37	1	248685080	248685080	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248685080C>A	ENST00000343414.4	+	1	165	c.133C>A	c.(133-135)Ctc>Atc	p.L45I		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L45I(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAACACTGCCCTCATACTAGT	0.468000													12	68					0.00136819	0.00152414	0.093190	1	0
DYTN	391475	broad.mit.edu	37	2	207572137	207572137	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:207572137A>T	ENST00000452335.2	-	3	301	c.185T>A	c.(184-186)cTt>cAt	p.L62H		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	62						plasma membrane	zinc ion binding	p.L62H(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TGCCTGAGAAAGTTGCTGCAC	0.537000													4	5					0	0	0.150653	0	0
AGMO	392636	broad.mit.edu	37	7	15240919	15240919	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:15240919A>T	ENST00000342526.3	-	13	1498	c.1329T>A	c.(1327-1329)ccT>ccA	p.P443P		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	443					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.P443P(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GTTATTTCCAAGGGTGAGAGG	0.303000													16	30					0	0	0.204396	0	0
CLEC12A	160364	broad.mit.edu	37	12	10133289	10133289	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:10133289C>T	ENST00000304361.4	+	4	670	c.488C>T	c.(487-489)gCt>gTt	p.A163V	CLEC12A_ENST00000434319.2_Missense_Mutation_p.A163V|CLEC12A_ENST00000350667.4_Missense_Mutation_p.A130V|CLEC12A_ENST00000355690.4_Missense_Mutation_p.A173V	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	163	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding	p.A163V(1)|p.A173V(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						GCCTGTGCTGCTCAGAATGCC	0.453000													11	47					0	0	0.069234	0	0
MAP3K15	389840	broad.mit.edu	37	X	19443709	19443709	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:19443709T>C	ENST00000338883.4	-	9	1378	c.1379A>G	c.(1378-1380)cAt>cGt	p.H460R	MAP3K15_ENST00000469203.2_Missense_Mutation_p.H292R|MAP3K15_ENST00000359173.3_5'UTR|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	460							ATP binding|MAP kinase kinase kinase activity|metal ion binding	p.H507R(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CCCGACATCATGGGCCAGCAT	0.502000													3	15					0	0	0.150653	0	0
MED12L	116931	broad.mit.edu	37	3	151078261	151078261	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:151078261G>T	ENST00000474524.1	+	19	2758		c.e19-1		MED12L_ENST00000273432.4_Splice_Site|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.?(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTCTCCTCAGGTTGTGTGGT	0.373000													34	190					1.57351e-24	2.965e-24	0.193644	1	0
FMNL1	752	broad.mit.edu	37	17	43313572	43313572	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:43313572C>T	ENST00000331495.3	+	7	1020	c.684C>T	c.(682-684)caC>caT	p.H228H	FMNL1_ENST00000328118.3_Silent_p.H228H|FMNL1_ENST00000592006.1_3'UTR	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	228	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.H228H(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						ACGACGTCCACGTCTGTATTA	0.642000											OREG0024477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	22					0	0	0.029380	0	0
CTCF	10664	broad.mit.edu	37	16	67670753	67670753	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:67670753G>T	ENST00000264010.4	+	11	2442	c.1999_splice	c.e11+1	p.Q666_splice	CTCF_ENST00000401394.1_Splice_Site_p.Q338_splice	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	666					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.Q666H(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AACAGAACCAGCGTAAGTTGT	0.597000													21	95					7.41877e-09	1.12123e-08	0.234183	1	0
NPY1R	4886	broad.mit.edu	37	4	164246890	164246890	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:164246890C>A	ENST00000296533.2	-	3	1251	c.720G>T	c.(718-720)agG>agT	p.R240S	NPY1R_ENST00000509586.1_5'UTR	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	240					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.R240S(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)				TGTTGTTTCTCCTTTTTAGGC	0.343000													6	21					0.000274275	0.000320388	0.047766	1	0
IGHV1-24	28467	broad.mit.edu	37	14	106733559	106733559	+	RNA	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:106733559G>T	ENST00000390610.2	-	0	80																											CCAAGAAGAGGATCCTCCAGG	0.567000													5	42					0.000602214	0.000684377	0.184627	1	0
CFHR5	81494	broad.mit.edu	37	1	196967403	196967403	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:196967403C>T	ENST00000367414.5	+	7	1244	c.1188C>T	c.(1186-1188)aaC>aaT	p.N396N	CFHR5_ENST00000256785.4_Silent_p.N372N	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	372	Sushi 7.				complement activation, alternative pathway	extracellular region		p.N372N(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCTGTATAAACGGGAAATGGA	0.318000													14	15					0	0	0.189662	0	0
MMP9	4318	broad.mit.edu	37	20	44641127	44641127	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:44641127C>A	ENST00000372330.3	+	8	1255	c.1236C>A	c.(1234-1236)tcC>tcA	p.S412S		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	412					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.S412S(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TAGATCATTCCTCAGTGCCGG	0.622000													8	56					7.48243e-07	1.03974e-06	0.058154	1	0
ZFHX4	79776	broad.mit.edu	37	8	77617295	77617295	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:77617295G>T	ENST00000521891.2	+	2	1420	c.972G>T	c.(970-972)ggG>ggT	p.G324G	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.G324G|ZFHX4_ENST00000518282.1_Silent_p.G324G|ZFHX4_ENST00000050961.6_Silent_p.G324G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	324						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G324G(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TAATACAGGGGATTGGCAAAG	0.438000										HNSCC(33;0.089)			9	50					1.08611e-07	1.56562e-07	0.080935	1	0
ACSS3	79611	broad.mit.edu	37	12	81532992	81532992	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:81532992A>T	ENST00000548058.1	+	4	1638	c.728A>T	c.(727-729)aAa>aTa	p.K243I	ACSS3_ENST00000261206.3_Missense_Mutation_p.K242I			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	243						mitochondrion	acetate-CoA ligase activity|ATP binding	p.K243I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GAAGCGCTAAAAATAGGACAA	0.353000													12	52					0	0	0.080935	0	0
NPAP1	23742	broad.mit.edu	37	15	24921212	24921212	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:24921212C>A	ENST00000329468.2	+	1	672	c.198C>A	c.(196-198)gtC>gtA	p.V66V		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.V66V(2)									GCATCTTCGTCGCCCCTAAGA	0.721000													10	18					6.40141e-05	7.87949e-05	0.080935	1	0
TRHDE	29953	broad.mit.edu	37	12	73056937	73056937	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:73056937G>C	ENST00000261180.4	+	19	3133	c.3037G>C	c.(3037-3039)Gag>Cag	p.E1013Q		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1013					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.E1013Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTACCAAGACGAGCTTTTCCA	0.393000													8	34					0	0	0.080935	0	0
SIM1	6492	broad.mit.edu	37	6	100898177	100898177	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:100898177G>A	ENST00000369208.3	-	4	1096	c.314C>T	c.(313-315)tCa>tTa	p.S105L	SIM1_ENST00000262901.4_Missense_Mutation_p.S105L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	105	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.S105L(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGCTGTCTCTGAGATGTACAT	0.542000													23	82					0	0	0.116897	0	0
ZNF148	7707	broad.mit.edu	37	3	124953150	124953150	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:124953150C>A	ENST00000360647.4	-	8	1176	c.691G>T	c.(691-693)Gaa>Taa	p.E231*	ZNF148_ENST00000492394.1_Nonsense_Mutation_p.E231*|ZNF148_ENST00000544464.1_Nonsense_Mutation_p.E26*|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Nonsense_Mutation_p.E39*|ZNF148_ENST00000484491.1_Nonsense_Mutation_p.E231*|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Nonsense_Mutation_p.E231*	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	231					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						ATACCACATTCATCACAGCGA	0.308000													14	64					1.49906e-05	1.90766e-05	0.119110	1	0
PNPLA5	150379	broad.mit.edu	37	22	44282278	44282278	+	Missense_Mutation	SNP	C	C	T	rs144693499	by1000genomes	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:44282278C>T	ENST00000216177.4	-	6	986	c.854G>A	c.(853-855)cGc>cAc	p.R285H	PNPLA5_ENST00000593866.1_Missense_Mutation_p.R171H|PNPLA5_ENST00000381198.2_Missense_Mutation_p.R171H|PNPLA5_ENST00000597664.1_Missense_Mutation_p.R285H	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	285					lipid catabolic process		hydrolase activity	p.R285H(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CCCCTTCCAGCGTTGGTCACA	0.592000													13	22					0	0	0.105934	0	0
CDH18	1016	broad.mit.edu	37	5	19839113	19839113	+	Translation_Start_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:19839113G>T	ENST00000507958.1	-	0	973				CDH18_ENST00000506372.1_De_novo_Start_InFrame|CDH18_ENST00000511273.1_De_novo_Start_InFrame|CDH18_ENST00000382275.1_De_novo_Start_InFrame|CDH18_ENST00000274170.4_De_novo_Start_InFrame|CDH18_ENST00000502796.1_De_novo_Start_InFrame			Q13634	CAD18_HUMAN	cadherin 18, type 2						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TAACTTTCCAGTTCACAGTTT	0.418000													3	17					0.115264	0.118414	0.115264	1	0
LMOD1	25802	broad.mit.edu	37	1	201869655	201869655	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:201869655C>A	ENST00000367288.4	-	2	732	c.486G>T	c.(484-486)cgG>cgT	p.R162R		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	162					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	p.R162R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAGCCCTGACCCGGCCCTTGT	0.547000													24	48					5.45024e-15	9.5233e-15	0.083992	1	0
TBX22	50945	broad.mit.edu	37	X	79277918	79277918	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:79277918C>A	ENST00000373294.5	+	1	178	c.150C>A	c.(148-150)agC>agA	p.S50R	TBX22_ENST00000476373.1_3'UTR|TBX22_ENST00000373296.3_Missense_Mutation_p.S50R|TBX22_ENST00000442340.1_5'UTR	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	50					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S50R(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GAAGGAGCAGCGCTGCAGGGA	0.607000													4	9					0.150653	0.15348	0.150653	1	0
PHF3	23469	broad.mit.edu	37	6	64356528	64356528	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:64356528C>T	ENST00000262043.3	+	2	412	c.72C>T	c.(70-72)tcC>tcT	p.S24S	PHF3_ENST00000509330.1_Silent_p.S24S|PHF3_ENST00000393387.1_Silent_p.S24S			Q92576	PHF3_HUMAN	PHD finger protein 3	24					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	p.S24S(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTCTAGGATCCAACCTGGAGA	0.393000													19	50					0	0	0.219247	0	0
SPTA1	6708	broad.mit.edu	37	1	158613118	158613118	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158613118A>T	ENST00000368148.3	-	31	4616	c.4436T>A	c.(4435-4437)cTa>cAa	p.L1479Q	SPTA1_ENST00000368147.3_Missense_Mutation_p.L1479Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1479					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.L1479Q(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)					TGACCTGTCTAGTACACGTTG	0.458000													10	35					0	0	0.080935	0	0
ACSM1	116285	broad.mit.edu	37	16	20648142	20648142	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:20648142G>T	ENST00000219151.4	-	10	1381	c.171C>A	c.(169-171)agC>agA	p.S57R	ACSM1_ENST00000307493.4_Missense_Mutation_p.S406R|ACSM1_ENST00000520010.1_Missense_Mutation_p.S406R			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	406					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.S57R(1)|p.S406R(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTGGCAGGATGCTGCCCTTGT	0.532000													8	35					1.76689e-08	2.63238e-08	0.058154	1	0
C1orf173	127254	broad.mit.edu	37	1	75037806	75037806	+	Silent	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:75037806C>G	ENST00000326665.5	-	14	3806	c.3588G>C	c.(3586-3588)ctG>ctC	p.L1196L	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1196	Glu-rich.							p.L1196L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCCTGCTGGACAGCTCTTCTC	0.552000													14	126					0	0	0.132662	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654458	38654458	+	RNA	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:38654458G>T	ENST00000494540.1	+	0	625					NR_003086.1																						TTTCAGCCTCGAGGACTTCCA	0.493000													8	27					0.0477658	0.0494873	0.047766	1	0
ABCC2	1244	broad.mit.edu	37	10	101594239	101594239	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:101594239C>A	ENST00000370449.4	+	24	3474	c.3361C>A	c.(3361-3363)Cct>Act	p.P1121T		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1121	ABC transmembrane type-1 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.P1121T(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CATGGCCACTCCTGTCTTCAC	0.463000													14	130					1.15088e-07	1.65087e-07	0.146539	1	0
XRCC5	7520	broad.mit.edu	37	2	217069067	217069067	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:217069067C>G	ENST00000392133.3	+	22	2593	c.2132C>G	c.(2131-2133)cCa>cGa	p.P711R	XRCC5_ENST00000392132.2_Missense_Mutation_p.P711R			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	711					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	p.P711R(1)		endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AAAGACAAACCAAGTGGAGAC	0.403000								Non-homologous end-joining					11	52					0	0	0.132662	0	0
NSL1	25936	broad.mit.edu	37	1	212911978	212911978	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:212911978C>T	ENST00000366977.3	-	6	636	c.618G>A	c.(616-618)agG>agA	p.R206R	NSL1_ENST00000422588.2_3'UTR|NSL1_ENST00000366978.1_Intron|NSL1_ENST00000366975.6_Silent_p.R165R|NSL1_ENST00000366976.1_3'UTR	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	206					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	p.R206R(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		CAGGCTGCATCCTGAGAACTT	0.398000													19	72					0	0	0.219247	0	0
INHBA	3624	broad.mit.edu	37	7	41729730	41729730	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:41729730C>A	ENST00000242208.4	-	3	1045	c.799G>T	c.(799-801)Ggg>Tgg	p.G267W	INHBA_ENST00000442711.1_Missense_Mutation_p.G267W|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	267					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.G267W(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						ttcccttccccctcctcttct	0.592000										TSP Lung(11;0.080)			7	27					0.00198382	0.00218175	0.029380	1	0
ABCC9	10060	broad.mit.edu	37	12	22040803	22040803	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:22040803T>G	ENST00000261200.4	-	13	1867	c.1868A>C	c.(1867-1869)gAa>gCa	p.E623A	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.E623A|ABCC9_ENST00000261201.4_Missense_Mutation_p.E623A	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	623					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.E623A(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAGCGAACTTTCACCAGTTCG	0.393000													15	57					0	0	0.146539	0	0
LRCH4	4034	broad.mit.edu	37	7	100176407	100176407	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:100176407G>A	ENST00000310300.6	-	5	653	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	201					nervous system development	PML body	protein binding	p.L201L(1)		NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGTCCCCCAGCTCTGGAACA	0.622000													8	39					0	0	0.038147	0	0
PKP2	5318	broad.mit.edu	37	12	33031389	33031389	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:33031389C>A	ENST00000340811.4	-	3	533	c.425G>T	c.(424-426)aGg>aTg	p.R142M	PKP2_ENST00000070846.6_Missense_Mutation_p.R142M	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	142					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.R142I(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)					CAGAGGATGCCTCAAGGACCT	0.567000													44	179					6.03219e-31	1.14549e-30	0.139131	1	0
SLC2A9	56606	broad.mit.edu	37	4	9836505	9836505	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:9836505C>A	ENST00000506583.1	-	13	1549	c.1332_splice	c.e13+1	p.Q444_splice	SLC2A9_ENST00000309065.3_Splice_Site_p.Q444_splice|SLC2A9_ENST00000264784.3_Splice_Site_p.Q473_splice			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	473					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	p.Q444H(1)|p.Q473H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						TCAGTCATACCTGAATGAATG	0.512000													3	17					0.004672	0.00503244	0.115264	1	0
C3AR1	719	broad.mit.edu	37	12	8211786	8211786	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:8211786G>T	ENST00000307637.4	-	2	1199	c.996C>A	c.(994-996)ccC>ccA	p.P332P		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	332					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	p.P332P(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TTGCCACGAGGGGTGTTGGCA	0.473000													8	63					0.000274275	0.000320388	0.047766	1	0
GABRA2	2555	broad.mit.edu	37	4	46305517	46305517	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:46305517G>T	ENST00000510861.1	-	8	989	c.816C>A	c.(814-816)ttC>ttA	p.F272L	GABRA2_ENST00000381620.4_Missense_Mutation_p.F272L|GABRA2_ENST00000507069.1_Missense_Mutation_p.F272L|GABRA2_ENST00000514090.1_Missense_Mutation_p.F272L|GABRA2_ENST00000540012.1_Missense_Mutation_p.F217L|GABRA2_ENST00000356504.1_Missense_Mutation_p.F272L|GABRA2_ENST00000515082.1_Missense_Mutation_p.F272L			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	272					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.F272L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTTAAGCCAGAATGAAACTT	0.383000													12	66					1.5842e-08	2.37955e-08	0.105934	1	0
RNF213	57674	broad.mit.edu	37	17	78325513	78325513	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:78325513A>T	ENST00000582970.1	+	32	10356	c.10213A>T	c.(10213-10215)Ata>Tta	p.I3405L	RNF213_ENST00000508628.2_Missense_Mutation_p.I3454L|RNF213_ENST00000336301.6_Missense_Mutation_p.I1478L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.I3454L(1)|p.I1478L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AATCAACAAAATACGAGAAAA	0.353000													3	23					0	0	0.150653	0	0
CDK12	51755	broad.mit.edu	37	17	37676281	37676281	+	Silent	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:37676281A>G	ENST00000447079.4	+	11	3069	c.3036A>G	c.(3034-3036)gaA>gaG	p.E1012E	CDK12_ENST00000430627.2_Silent_p.E1012E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1012	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.E1012E(1)|p.T1014_Q1016del(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCACAGCTGAACAGACCCTAC	0.463000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			16	80					0	0	0.175082	0	0
OPN1SW	611	broad.mit.edu	37	7	128414653	128414653	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:128414653G>T	ENST00000249389.2	-	3	585	c.586C>A	c.(586-588)Cgc>Agc	p.R196S		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	196					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	p.R196S(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						GACTCGCTGCGGTATTTGGTG	0.557000													13	53					5.50884e-06	7.22357e-06	0.093190	1	0
IGHV3-16	28447	broad.mit.edu	37	14	106622005	106622005	+	RNA	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:106622005C>A	ENST00000390604.2	-	0	313																											TCACGGAGTCCACATAGTGCG	0.532000													13	110					4.3838e-07	6.16761e-07	0.105934	1	0
OR5L1	219437	broad.mit.edu	37	11	55579049	55579049	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:55579049G>A	ENST00000333973.2	+	1	196	c.107G>A	c.(106-108)gGa>gAa	p.G36E		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G36E(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTCATCTATGGAGTCACGTTG	0.502000													33	153					0	0	0.203993	0	0
OTOP1	133060	broad.mit.edu	37	4	4199402	4199402	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:4199402G>T	ENST00000296358.4	-	5	1183	c.1159C>A	c.(1159-1161)Cgc>Agc	p.R387S		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	387					biomineral tissue development	extracellular space|integral to membrane		p.R387S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCAGTTTGCGGGCCGGATTT	0.602000													14	48					5.01169e-05	6.2106e-05	0.160694	1	0
THSD1	55901	broad.mit.edu	37	13	52960290	52960290	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr13:52960290C>A	ENST00000258613.4	-	4	1231	c.1053G>T	c.(1051-1053)caG>caT	p.Q351H	THSD1_ENST00000544466.1_5'UTR|THSD1_ENST00000349258.4_Intron	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	351	TSP type-1.					extracellular region|integral to membrane|intracellular membrane-bounded organelle		p.Q351H(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TGGCACTACACTGGCTCCATG	0.502000													13	44					9.31168e-06	1.21449e-05	0.105934	1	0
OR51L1	119682	broad.mit.edu	37	11	5021140	5021140	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:5021140G>C	ENST00000321543.1	+	1	928	c.928G>C	c.(928-930)Gtc>Ctc	p.V310L		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V310L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCACAAGTTTGTCCTAAGGAG	0.408000													17	33					0	0	0.160694	0	0
HPGD	3248	broad.mit.edu	37	4	175416704	175416704	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:175416704C>A	ENST00000296522.6	-	5	939	c.493G>T	c.(493-495)Gca>Tca	p.A165S	HPGD_ENST00000510901.1_Missense_Mutation_p.A44S|HPGD_ENST00000542498.1_Intron|HPGD_ENST00000422112.2_Missense_Mutation_p.A97S|HPGD_ENST00000541923.1_Missense_Mutation_p.A44S|HPGD_ENST00000296521.7_Missense_Mutation_p.A165S	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	165					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity	p.A165S(1)		kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	CTCACCGCTGCTGAGCGTGTG	0.408000													9	39					0.00448238	0.00486753	0.047766	1	0
ZNF676	163223	broad.mit.edu	37	19	22363097	22363097	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:22363097C>A	ENST00000397121.2	-	3	1739	c.1422G>T	c.(1420-1422)gaG>gaT	p.E474D		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E474D(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TGTAAGGTTTCTCTGCAGCAT	0.393000													38	60					5.43694e-19	1.00385e-18	0.225048	1	0
TRAV9-2	28677	broad.mit.edu	37	14	22409345	22409345	+	RNA	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:22409345C>T	ENST00000390441.2	+	0	33																											GGATCAAGACCATTATTTGGG	0.413000													6	20					0	0	0.029380	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618422	77618422	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:77618422G>T	ENST00000521891.2	+	2	2547	c.2099G>T	c.(2098-2100)cGt>cTt	p.R700L	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R700L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R700L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R700L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	700						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R700H(1)|p.R700L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAACCCTTCCGTTGTGAGGTT	0.502000										HNSCC(33;0.089)			5	23					0.0215528	0.0226011	0.217242	1	0
ALK	238	broad.mit.edu	37	2	29416528	29416528	+	Missense_Mutation	SNP	G	G	T	rs139039449		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:29416528G>T	ENST00000389048.3	-	29	5331	c.4425C>A	c.(4423-4425)caC>caA	p.H1475Q	ALK_ENST00000431873.1_Missense_Mutation_p.H305Q	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1475					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.H1475Q(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCATATTCACGTGTCCCCCTT	0.577000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				20	65					2.98393e-07	4.2388e-07	0.076483	1	0
MYBPC1	4604	broad.mit.edu	37	12	102071040	102071040	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:102071040C>A	ENST00000549145.1	+	27	3095	c.2995C>A	c.(2995-2997)Cat>Aat	p.H999N	MYBPC1_ENST00000360610.2_Missense_Mutation_p.H986N|MYBPC1_ENST00000441232.1_Missense_Mutation_p.H986N|MYBPC1_ENST00000536007.1_Missense_Mutation_p.H949N|MYBPC1_ENST00000361466.2_Missense_Mutation_p.H993N|MYBPC1_ENST00000361685.2_Missense_Mutation_p.H993N|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000553190.1_Missense_Mutation_p.H968N|MYBPC1_ENST00000551300.1_Missense_Mutation_p.H869N|MYBPC1_ENST00000541119.1_Missense_Mutation_p.H956N|MYBPC1_ENST00000550270.1_Missense_Mutation_p.H986N|MYBPC1_ENST00000452455.2_Missense_Mutation_p.H986N|MYBPC1_ENST00000392934.3_Missense_Mutation_p.H955N|MYBPC1_ENST00000547405.1_Missense_Mutation_p.H942N|MYBPC1_ENST00000547509.1_Missense_Mutation_p.H954N|MYBPC1_ENST00000545503.2_Missense_Mutation_p.H968N			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	986	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	p.H986N(1)|p.H993N(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TGAGCATTATCATCGAACCAG	0.368000													13	63					2.68362e-12	4.48085e-12	0.093190	1	0
NANOS1	340719	broad.mit.edu	37	10	120790054	120790054	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:120790054C>A	ENST00000425699.1	+	1	827	c.741C>A	c.(739-741)taC>taA	p.Y247*		NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN	nanos homolog 1 (Drosophila)	247					epithelial cell migration	perinuclear region of cytoplasm	protein binding|RNA binding|translation repressor activity|zinc ion binding	p.Y247*(1)		lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		TGCGCCGCTACACGTGTCCCC	0.701000													8	22					3.09899e-07	4.38524e-07	0.047766	1	0
KCND1	3750	broad.mit.edu	37	X	48820029	48820029	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:48820029T>A	ENST00000218176.3	-	6	3054	c.1757A>T	c.(1756-1758)gAc>gTc	p.D586V	KCND1_ENST00000376477.1_Missense_Mutation_p.D209V	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	586						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	p.D586V(1)		endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						GCAGTTCAGGTCAAGGCTGTC	0.592000													6	12					0	0	0.217242	0	0
OTOGL	283310	broad.mit.edu	37	12	80707360	80707360	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:80707360C>A	ENST00000458043.2	+	30	3534	c.3528C>A	c.(3526-3528)taC>taA	p.Y1176*	OTOGL_ENST00000547103.1_Nonsense_Mutation_p.Y1176*	NM_173591.3	NP_775862.3			otogelin-like									p.Y1176*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CATATGCATACAAGTGTTGTC	0.368000													11	61					3.07112e-06	4.11541e-06	0.080935	1	0
OR2AK2	391191	broad.mit.edu	37	1	248128964	248128964	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248128964G>T	ENST00000366480.3	+	1	430	c.331G>T	c.(331-333)Ggc>Tgc	p.G111C	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G111C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TAGATTTTTGGGCTGTGAGAT	0.478000													27	147					2.65835e-16	4.77006e-16	0.125774	1	0
PEX5L	51555	broad.mit.edu	37	3	179537683	179537683	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:179537683C>A	ENST00000467460.1	-	9	1234	c.904G>T	c.(904-906)Gcc>Tcc	p.A302S	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.A110S|PEX5L_ENST00000464614.1_Missense_Mutation_p.A194S|PEX5L_ENST00000465751.1_Missense_Mutation_p.A278S|PEX5L_ENST00000392649.3_Missense_Mutation_p.A194S|PEX5L_ENST00000472994.1_Missense_Mutation_p.A243S|PEX5L_ENST00000476138.1_Missense_Mutation_p.A259S|PEX5L_ENST00000485199.1_Missense_Mutation_p.A267S|PEX5L_ENST00000263962.8_Missense_Mutation_p.A300S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	302					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	p.A302S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGGTTCTGGGCTTCTTGGTTC	0.423000													7	71					1.06961e-07	1.5464e-07	0.038147	1	0
SSPO	23145	broad.mit.edu	37	7	149509063	149509063	+	RNA	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:149509063G>A	ENST00000378016.2	+	0	9609							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCTGCCCGGTGCCATCGGC	0.697000													3	24					0	0	0.115264	0	0
SYCE1	93426	broad.mit.edu	37	10	135369516	135369516	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:135369516C>T	ENST00000368517.3	-	9	594	c.456G>A	c.(454-456)ctG>ctA	p.L152L	SYCE1_ENST00000432597.2_Silent_p.L152L|SYCE1_ENST00000343131.5_Silent_p.L188L|SPRN_ENST00000541506.1_Intron	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	188					cell division	central element		p.L152L(1)|p.L188L(1)		breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGCTGCTGTCCAGGGCACAAA	0.572000													12	101					0	0	0.093190	0	0
TLN1	7094	broad.mit.edu	37	9	35700304	35700304	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:35700304T>A	ENST00000314888.9	-	49	6897	c.6544A>T	c.(6544-6546)Atc>Ttc	p.I2182F	TLN1_ENST00000540444.1_Missense_Mutation_p.I2070F	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2182					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	p.I2182F(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCATGGTGATACCCTTGGTC	0.527000													10	34					0	0	0.058154	0	0
MNDA	4332	broad.mit.edu	37	1	158813156	158813156	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158813156C>A	ENST00000368141.4	+	3	614	c.353C>A	c.(352-354)gCa>gAa	p.A118E		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	118					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.A118E(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GCACCCACCGCAAGAAACAAA	0.448000													8	20					1.12685e-05	1.45676e-05	0.047766	1	0
UBE4B	10277	broad.mit.edu	37	1	10207066	10207066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:10207066G>T	ENST00000377157.3	+	18	2835	c.1774G>T	c.(1774-1776)Gag>Tag	p.E592*	UBE4B_ENST00000253251.8_Nonsense_Mutation_p.E708*|UBE4B_ENST00000343090.6_Nonsense_Mutation_p.E837*	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	837					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.E708*(1)|p.E837*(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CCTACTTGACGAGAGCTTCCT	0.527000													22	60					9.95505e-16	1.77328e-15	0.069288	1	0
TGS1	96764	broad.mit.edu	37	8	56723451	56723451	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:56723451G>A	ENST00000260129.5	+	11	2632	c.2155G>A	c.(2155-2157)Gat>Aat	p.D719N		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	719	Sufficient for catalytic activity.				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	p.D719N(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GATTGCCATTGATATCGATCC	0.363000													24	87					0	0	0.099896	0	0
MFSD1	64747	broad.mit.edu	37	3	158538032	158538032	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:158538032G>C	ENST00000415822.2	+	9	1068	c.927G>C	c.(925-927)aaG>aaC	p.K309N	MFSD1_ENST00000392813.4_Missense_Mutation_p.K270N|MFSD1_ENST00000264266.8_Missense_Mutation_p.K260N	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	260					transmembrane transport	integral to membrane		p.K309N(1)|p.K260N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTGATGTAAAGGACTTCTCCT	0.363000													7	76					0	0	0.029380	0	0
SPEG	10290	broad.mit.edu	37	2	220354469	220354469	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:220354469C>A	ENST00000312358.7	+	36	8861	c.8729C>A	c.(8728-8730)cCa>cAa	p.P2910Q	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2910	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.P2910Q(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTGTCTGCACCACCAGCCCCT	0.622000													17	55					1.15088e-07	1.65087e-07	0.146539	1	0
OTOF	9381	broad.mit.edu	37	2	26706330	26706330	+	Splice_Site	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:26706330C>T	ENST00000272371.2	-	13	1518	c.1392_splice	c.e13+1	p.K464_splice	OTOF_ENST00000403946.3_Splice_Site_p.K464_splice	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	464	C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.K464K(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCCCAGTACCTTCTGGCCAG	0.557000													6	29					0	0	0.029380	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343102	130343102	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:130343102G>T	ENST00000299164.2	+	8	2239	c.2239G>T	c.(2239-2241)Gag>Tag	p.E747*		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	747	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E747*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	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;0.0631)|Lung(977;0.215)		GTCGGCGGTGGAGCGGGACCT	0.642000													8	44					0.000274275	0.000320388	0.047766	1	0
COMMD7	149951	broad.mit.edu	37	20	31292637	31292637	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:31292637C>A	ENST00000446419.1	-	6	1019	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	COMMD7_ENST00000278980.6_Missense_Mutation_p.D136Y	NM_001099339.1	NP_001092809.1	Q86VX2	COMD7_HUMAN	COMM domain containing 7	136	COMM.				negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway		NF-kappaB binding	p.D136Y(1)		breast(1)|endometrium(1)|lung(3)	5						CACTCCATATCTATGAGCTGG	0.478000													5	52					8.12818e-05	9.85601e-05	0.029380	1	0
GRM5	2915	broad.mit.edu	37	11	88583117	88583117	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:88583117T>C	ENST00000418177.2	-	3	1235	c.868A>G	c.(868-870)Atg>Gtg	p.M290V	GRM5_ENST00000455756.2_Missense_Mutation_p.M290V|GRM5_ENST00000305432.5_Missense_Mutation_p.M290V|GRM5_ENST00000393297.1_Missense_Mutation_p.M290V|GRM5_ENST00000305447.4_Missense_Mutation_p.M290V			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	290					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.M290V(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AGGCGCCTCATGGCCATCAGC	0.517000													9	47					0	0	0.047766	0	0
ABCG4	64137	broad.mit.edu	37	11	119024758	119024758	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:119024758C>T	ENST00000307417.3	+	3	625	c.261C>T	c.(259-261)tgC>tgT	p.C87C	ABCG4_ENST00000449422.2_Silent_p.C87C|ABCG4_ENST00000531739.1_Silent_p.C87C	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	87	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	p.C87C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TTCTCAAGTGCCTCTCAGGTA	0.517000													11	68					0	0	0.093190	0	0
PRR21	643905	broad.mit.edu	37	2	240981267	240981267	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:240981267A>T	ENST00000408934.1	-	1	1132	c.1133T>A	c.(1132-1134)cTt>cAt	p.L378H		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	378								p.L378H(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GTTAGAAACAAGAAGACAGGT	0.468000													4	35					0	0	0.150653	0	0
KIDINS220	57498	broad.mit.edu	37	2	8891728	8891728	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:8891728C>T	ENST00000256707.3	-	23	3239	c.3058G>A	c.(3058-3060)Gaa>Aaa	p.E1020K	KIDINS220_ENST00000418530.1_Missense_Mutation_p.E978K|KIDINS220_ENST00000427284.1_Missense_Mutation_p.E1020K|KIDINS220_ENST00000473731.1_Missense_Mutation_p.E1020K	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1020					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.E1020K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCATCAATTTCAAGAAGTGGC	0.323000													13	46					0	0	0.093190	0	0
XRCC6	2547	broad.mit.edu	37	22	42024183	42024183	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:42024183G>A	ENST00000359308.4	+	2	799	c.144G>A	c.(142-144)atG>atA	p.M48I	XRCC6_ENST00000405506.1_Intron|XRCC6_ENST00000405878.1_Missense_Mutation_p.M48I|XRCC6_ENST00000428575.2_Intron|XRCC6_ENST00000360079.3_Missense_Mutation_p.M48I|XRCC6_ENST00000402580.3_Missense_Mutation_p.M48I			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	48	Ser-rich (potentially targets for phosphorylation).				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	p.M48I(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CCAAGGCTATGTTTGAATCTC	0.348000								Non-homologous end-joining					18	27					0	0	0.076483	0	0
SPATC1	375686	broad.mit.edu	37	8	145101812	145101812	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:145101812C>A	ENST00000377470.3	+	5	1833	c.1731C>A	c.(1729-1731)ctC>ctA	p.L577L	SPATC1_ENST00000447830.2_3'UTR	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	577								p.L577L(1)|p.L486L(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTCCTGCCTCAGCCAGCTGG	0.682000													11	42					0.00010058	0.000121558	0.093190	1	0
F9	2158	broad.mit.edu	37	X	138612957	138612957	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:138612957C>A	ENST00000218099.2	+	1	41	c.34C>A	c.(34-36)Cca>Aca	p.P12T	F9_ENST00000479617.1_3'UTR|F9_ENST00000394090.2_Missense_Mutation_p.P12T	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	12					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GGCAGAATCACCAGGCCTCAT	0.413000													7	57					0.000274275	0.000320388	0.047766	1	0
SEMA6B	10501	broad.mit.edu	37	19	4556015	4556015	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:4556015C>A	ENST00000586582.1	-	6	766	c.456G>T	c.(454-456)gtG>gtT	p.V152V	SEMA6B_ENST00000301293.3_Silent_p.V152V|SEMA6B_ENST00000586965.1_Silent_p.V152V	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	152	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.V152V(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTGGCGCACACCGGGTTGA	0.627000													11	28					0.00185496	0.00205857	0.105934	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	63					0	0	0.150653	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160264503	160264503	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:160264503C>T	ENST00000264431.4	+	16	3137	c.2718C>T	c.(2716-2718)caC>caT	p.H906H		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	906	Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	p.H894H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAATTCGTCACGTTGGCCGAA	0.453000													13	52					0	0	0.105934	0	0
CYP2C19	1557	broad.mit.edu	37	10	96602702	96602702	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:96602702G>T	ENST00000371321.3	+	7	1152	c.1070G>T	c.(1069-1071)aGa>aTa	p.R357I	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	357					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.R357I(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAGGTCCAGAGATACATCGAC	0.537000													6	57					0.00198382	0.00218175	0.029380	1	0
KIF21A	55605	broad.mit.edu	37	12	39705243	39705243	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:39705243C>T	ENST00000395670.3	-	31	4494	c.4075G>A	c.(4075-4077)Gat>Aat	p.D1359N	KIF21A_ENST00000361961.3_Missense_Mutation_p.D1345N|KIF21A_ENST00000547745.1_5'UTR|KIF21A_ENST00000541463.2_Missense_Mutation_p.D1305N|KIF21A_ENST00000544797.2_Missense_Mutation_p.D1321N|KIF21A_ENST00000361418.5_Missense_Mutation_p.D1358N			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1358					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.D1345N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGAGGAGATCATCAGTAGAA	0.343000													13	62					0	0	0.105934	0	0
ORC5	5001	broad.mit.edu	37	7	103808891	103808891	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:103808891C>A	ENST00000447452.2	-	9	959	c.907G>T	c.(907-909)Gga>Tga	p.G303*	ORC5_ENST00000297431.4_Intron|ORC5_ENST00000545943.1_Intron	NM_181747.3	NP_859531.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	0					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	p.G303*(1)		kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						GAAGTATCTCCGGTAACTGTC	0.353000													10	41					0.000442599	0.000513331	0.058154	1	0
BCO2	83875	broad.mit.edu	37	11	112065384	112065384	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:112065384G>T	ENST00000357685.5	+	5	777	c.642G>T	c.(640-642)tgG>tgT	p.W214C	BCO2_ENST00000531169.1_Missense_Mutation_p.W180C|BCO2_ENST00000532593.1_Missense_Mutation_p.W109C|BCO2_ENST00000526088.1_Missense_Mutation_p.W180C|SDHD_ENST00000532612.1_Intron|BCO2_ENST00000438022.1_Missense_Mutation_p.W180C|BCO2_ENST00000393032.2_Missense_Mutation_p.W180C|BCO2_ENST00000361053.4_Intron			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	214					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.W214C(1)		NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						AGGTAGATTGGAGCAAATTTA	0.368000													12	54					0.00010058	0.000121558	0.093190	1	0
HMCN1	83872	broad.mit.edu	37	1	186113375	186113375	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:186113375A>T	ENST00000271588.4	+	90	14224	c.13995A>T	c.(13993-13995)acA>acT	p.T4665T	HMCN1_ENST00000367492.2_Silent_p.T4665T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4665	TSP type-1 3.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.T4665T(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTACTCAGACAAGAGCAAGAC	0.478000													19	119					0	0	0.204396	0	0
TCOF1	6949	broad.mit.edu	37	5	149751720	149751720	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:149751720A>G	ENST00000451292.1	+	7	899	c.791A>G	c.(790-792)aAg>aGg	p.K264R	TCOF1_ENST00000394269.3_Missense_Mutation_p.K264R|TCOF1_ENST00000439160.2_Missense_Mutation_p.K264R|TCOF1_ENST00000504761.2_Missense_Mutation_p.K264R|TCOF1_ENST00000377797.3_Missense_Mutation_p.K264R|TCOF1_ENST00000323668.7_Intron|TCOF1_ENST00000513346.1_Missense_Mutation_p.K264R|TCOF1_ENST00000445265.2_Intron			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	264					skeletal system development	nucleolus	protein binding|transporter activity	p.K264R(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGAGGGCCAAGAAGCCAGAA	0.637000													8	18					0	0	0.058154	0	0
DMP1	1758	broad.mit.edu	37	4	88583789	88583789	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:88583789A>T	ENST00000339673.6	+	6	958	c.859A>T	c.(859-861)Aca>Tca	p.T287S	RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.T271S	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	287					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	p.T287S(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)		TGACAACAACACAATGGAAGA	0.483000													3	19					0	0	0.115264	0	0
INTS5	80789	broad.mit.edu	37	11	62415784	62415784	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62415784C>T	ENST00000330574.2	-	2	1820	c.1768G>A	c.(1768-1770)Gag>Aag	p.E590K		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	590					snRNA processing	integral to membrane|integrator complex	protein binding	p.E590K(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GCAGGGCCCTCGCCACCCTGC	0.622000													5	33					0	0	0.184627	0	0
MRPL39	54148	broad.mit.edu	37	21	26978773	26978773	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr21:26978773T>C	ENST00000307301.7	-	2	309	c.268A>G	c.(268-270)Agt>Ggt	p.S90G	MRPL39_ENST00000352957.4_Missense_Mutation_p.S90G	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	90						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						ATGGCACAACTGTAGGGAGTT	0.428000													13	27					0	0	0.105934	0	0
F13B	2165	broad.mit.edu	37	1	197024886	197024886	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:197024886C>T	ENST00000367412.1	-	8	1356	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	438	Sushi 7.				blood coagulation	extracellular region		p.R438H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTGTTCGCAACGAGATATTTT	0.413000													26	52					0	0	0.108266	0	0
CDH8	1006	broad.mit.edu	37	16	61854978	61854978	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:61854978C>A	ENST00000577390.1	-	6	1829	c.875G>T	c.(874-876)gGc>gTc	p.G292V	CDH8_ENST00000584337.1_Missense_Mutation_p.G292V|CDH8_ENST00000577730.1_Missense_Mutation_p.G292V|CDH8_ENST00000299345.6_Missense_Mutation_p.G292V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	292	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G292V(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TATTGCAGTGCCAAGAACCAC	0.403000													8	30					1.06961e-07	1.5464e-07	0.038147	1	0
EXOC3	11336	broad.mit.edu	37	5	453846	453846	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:453846G>A	ENST00000512944.1	+	4	915	c.726G>A	c.(724-726)aaG>aaA	p.K242K	EXOC3_ENST00000315013.5_Silent_p.K242K	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	253					exocytosis|protein transport			p.K242K(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGAGGCCCAAGAATTGGAAGG	0.483000													4	54					0	0	0.150653	0	0
NID2	22795	broad.mit.edu	37	14	52505472	52505472	+	Silent	SNP	C	C	A	rs149933876		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:52505472C>A	ENST00000216286.5	-	9	2249	c.2250G>T	c.(2248-2250)ccG>ccT	p.P750P	NID2_ENST00000541773.1_Silent_p.P697P	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	750	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding	p.P750P(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TACCTTTGACCGGGCCAATTT	0.443000													4	22					0.014758	0.0155761	0.184627	1	0
LPA	4018	broad.mit.edu	37	6	161010597	161010597	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:161010597T>A	ENST00000447678.1	-	25	4055	c.3935A>T	c.(3934-3936)tAc>tTc	p.Y1312F	LPA_ENST00000316300.5_Missense_Mutation_p.Y1312F	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3820	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.Y1312F(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATTTGGGTAGTATTCTGTGGT	0.463000													9	24					0	0	0.058154	0	0
BIRC3	330	broad.mit.edu	37	11	102201846	102201846	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:102201846C>T	ENST00000263464.3	+	6	3948	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	BIRC3_ENST00000532808.1_Nonsense_Mutation_p.Q400*	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	400					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q400*(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		ACAGACAGTTCAGAGAAAAAT	0.398000			T	MALT1	MALT								10	47					0	0	0.058154	0	0
KRT72	140807	broad.mit.edu	37	12	52994868	52994868	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:52994868G>T	ENST00000293745.2	-	1	454	c.369C>A	c.(367-369)gcC>gcA	p.A123A	KRT72_ENST00000354310.4_Silent_p.A123A|KRT72_ENST00000537672.2_Silent_p.A123A|KRT72_ENST00000398066.3_5'UTR	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	123	Head.					keratin filament	structural molecule activity	p.A123A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCCGCTCCTGGGCGCGCACCC	0.642000													13	42					7.03913e-09	1.06605e-08	0.093190	1	0
GFAP	2670	broad.mit.edu	37	17	42992785	42992785	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:42992785C>A	ENST00000253408.5	-	1	135	c.70G>T	c.(70-72)Ggc>Tgc	p.G24C	GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Missense_Mutation_p.G24C|GFAP_ENST00000586793.1_Missense_Mutation_p.G24C|GFAP_ENST00000435360.2_Missense_Mutation_p.G24C	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	24	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton	p.G24C(2)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GGAGCCAGGCCCCCCACCATC	0.692000													4	10					0.00909568	0.0096906	0.150653	1	0
PSKH1	5681	broad.mit.edu	37	16	67943486	67943486	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:67943486G>T	ENST00000291041.5	+	2	1004	c.834G>T	c.(832-834)gtG>gtT	p.V278V		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	278	Protein kinase.					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.V278V(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		CCAACTCAGTGGACATGTGGG	0.577000													4	23					0.150653	0.15348	0.150653	1	0
PTPRB	5787	broad.mit.edu	37	12	70948995	70948995	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:70948995G>C	ENST00000334414.6	-	20	5132	c.5088C>G	c.(5086-5088)ttC>ttG	p.F1696L	PTPRB_ENST00000550857.1_Missense_Mutation_p.F1388L|PTPRB_ENST00000451516.2_Missense_Mutation_p.F1388L|PTPRB_ENST00000538708.1_Missense_Mutation_p.F1388L|PTPRB_ENST00000550358.1_Missense_Mutation_p.F1608L|PTPRB_ENST00000261266.5_Missense_Mutation_p.F1478L	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1478					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.F1478L(2)|p.F1696L(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGGTGTCGCTGAACCAGCTGC	0.473000													9	29					0	0	0.058154	0	0
NAV3	89795	broad.mit.edu	37	12	78574729	78574729	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:78574729C>A	ENST00000397909.2	+	30	5769	c.5596C>A	c.(5596-5598)Ccg>Acg	p.P1866T	NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000266692.7_Missense_Mutation_p.P1667T|NAV3_ENST00000536525.2_Missense_Mutation_p.P1844T|NAV3_ENST00000228327.6_Missense_Mutation_p.P1844T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1866						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.P1844T(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						TACTCGGCCACCGTCAGAATC	0.433000										HNSCC(70;0.22)			8	35					0.000274275	0.000320388	0.047766	1	0
ANK3	288	broad.mit.edu	37	10	61835269	61835269	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:61835269C>A	ENST00000280772.1	-	37	5561	c.5370G>T	c.(5368-5370)caG>caT	p.Q1790H	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1790	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.Q1790H(1)|p.Q1790Q(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCTTAGAGACTGAAAAGCTG	0.453000													9	34					3.09899e-07	4.38524e-07	0.047766	1	0
CLASP2	23122	broad.mit.edu	37	3	33557609	33557609	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:33557609C>T	ENST00000399362.4	-	36	4390	c.4037G>A	c.(4036-4038)aGa>aAa	p.R1346K	CLASP2_ENST00000480013.1_Missense_Mutation_p.R1126K|CLASP2_ENST00000468888.2_Missense_Mutation_p.R1347K|CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000461133.3_Missense_Mutation_p.R1106K|CLASP2_ENST00000359576.5_Missense_Mutation_p.R1338K|CLASP2_ENST00000307312.7_Missense_Mutation_p.R828K	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1348								p.R1339K(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TAGGATTTCTCTTAAAACCTT	0.313000													3	10					0	0	0.115264	0	0
MED15	51586	broad.mit.edu	37	22	20891465	20891465	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:20891465C>T	ENST00000263205.7	+	2	199	c.130C>T	c.(130-132)Cat>Tat	p.H44Y	MED15_ENST00000292733.7_Missense_Mutation_p.H44Y|MED15_ENST00000425759.2_Missense_Mutation_p.H4Y|MED15_ENST00000406969.1_Missense_Mutation_p.H18Y|MED15_ENST00000382974.2_Missense_Mutation_p.H44Y|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000541476.1_Missense_Mutation_p.H18Y	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	44	Interaction with SREBF1.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	p.H44Y(2)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TATGGAGAGCCATGTTTTCCT	0.527000													5	15					0	0	0.029380	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213415049	213415049	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:213415049C>A	ENST00000366960.3	+	11	2380	c.2230C>A	c.(2230-2232)Cat>Aat	p.H744N	RPS6KC1_ENST00000543470.1_Missense_Mutation_p.H532N|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.H447N|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.H732N|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	744					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	p.H744N(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ATGCCAAGCACATGAGGAGAA	0.408000													22	28					2.27731e-05	2.88551e-05	0.234183	1	0
NOMO1	23420	broad.mit.edu	37	16	14951512	14951512	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:14951512G>T	ENST00000287667.7	+	11	1391	c.1220_splice	c.e11+1	p.G407_splice	NOMO1_ENST00000566883.1_3'UTR	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	407						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	p.G407V(1)		endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						ATTGCAACAGGGTAAGCTTAT	0.468000													14	95					6.81908e-15	1.19009e-14	0.119110	1	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709507	31709507	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr21:31709507T>G	ENST00000382835.2	-	1	505	c.480A>C	c.(478-480)caA>caC	p.Q160H		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	160						intermediate filament		p.Q160H(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						GACACTGACATTGGCTAGATG	0.493000													12	90					0	0	0.080935	0	0
SLC28A3	64078	broad.mit.edu	37	9	86912137	86912137	+	Splice_Site	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:86912137T>C	ENST00000376238.4	-	8	909	c.861_splice	c.e8+1	p.K287_splice	SLC28A3_ENST00000537648.1_Splice_Site_p.K218_splice	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	287					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	p.K287R(1)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TGACTTTACCTTAAATGCAAA	0.368000													6	33					0	0	0.029380	0	0
KIF20B	9585	broad.mit.edu	37	10	91476254	91476254	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:91476254A>G	ENST00000416354.1	+	9	1074	c.1002A>G	c.(1000-1002)atA>atG	p.I334M	KIF20B_ENST00000394289.2_Missense_Mutation_p.I334M|KIF20B_ENST00000371728.3_Missense_Mutation_p.I334M|KIF20B_ENST00000260753.4_Missense_Mutation_p.I334M			Q96Q89	KI20B_HUMAN	kinesin family member 20B	334	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	p.I334M(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AACTAGGAATAAAGCACCAGA	0.308000													4	17					0	0	0.184627	0	0
IGHG4	3503	broad.mit.edu	37	14	106091085	106091085	+	RNA	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:106091085T>A	ENST00000390543.2	-	0	711																											TTCTTGGTCATCTCCTCCTGG	0.632000													14	253					0	0	0.105934	0	0
TOP1	7150	broad.mit.edu	37	20	39721125	39721125	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:39721125C>A	ENST00000361337.2	+	9	878	c.628C>A	c.(628-630)Cgc>Agc	p.R210S		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	210					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	p.R210S(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	GGAAGAAGAGCGCTATCCTGA	0.413000			T	NUP98	AML*								12	44					0.00185496	0.00205857	0.105934	1	0
C1GALT1	56913	broad.mit.edu	37	7	7283162	7283162	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:7283162G>T	ENST00000436587.2	+	4	1119	c.896G>T	c.(895-897)gGt>gTt	p.G299V	C1GALT1_ENST00000223122.2_Missense_Mutation_p.G299V	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	299					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding	p.G299V(1)		breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TAGGGTCCTGGTTGCTGCTCT	0.338000													18	99					1.2644e-06	1.74068e-06	0.219247	1	0
ZNF236	7776	broad.mit.edu	37	18	74592256	74592256	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:74592256A>G	ENST00000253159.8	+	8	1364	c.1166A>G	c.(1165-1167)aAc>aGc	p.N389S	ZNF236_ENST00000320610.9_Missense_Mutation_p.N391S	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	389					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N389S(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GTGGGCATCAACCAGGACATT	0.587000													5	27					0	0	0.184627	0	0
SLC25A3	5250	broad.mit.edu	37	12	98987861	98987861	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:98987861G>A	ENST00000188376.5	+	1	459	c.105G>A	c.(103-105)ggG>ggA	p.G35G	SLC25A3_ENST00000547534.1_Silent_p.G35G|SLC25A3_ENST00000228318.3_Silent_p.G35G|SLC25A3_ENST00000552981.1_Silent_p.G35G|SLC25A3_ENST00000551265.1_Silent_p.G35G|SLC25A3_ENST00000551917.1_Silent_p.G35G|SLC25A3_ENST00000401722.3_Silent_p.G35G|SLC25A3_ENST00000548847.1_Silent_p.G35G|SLC25A3_ENST00000549338.1_Silent_p.G35G	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	35					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	p.G35G(3)		breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GCTCCCCAGGGCCCACGGGCC	0.692000													3	15					0	0	0.150653	0	0
PTPRC	5788	broad.mit.edu	37	1	198668713	198668713	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:198668713C>A	ENST00000367376.2	+	5	484	c.313C>A	c.(313-315)Cct>Act	p.P105T	PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000442510.2_Missense_Mutation_p.P107T|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.P105T|PTPRC_ENST00000348564.6_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	105					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.P105T(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						AGTACAGACGCCTCACCTTCC	0.512000											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	80					1.15088e-07	1.65087e-07	0.146539	1	0
RAB21	23011	broad.mit.edu	37	12	72179334	72179334	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:72179334G>C	ENST00000261263.3	+	7	815	c.559G>C	c.(559-561)Gat>Cat	p.D187H		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	187					protein transport|small GTPase mediated signal transduction	cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane	GDP binding|GTP binding|GTPase activity|protein binding	p.D187H(1)		large_intestine(1)|lung(4)|prostate(1)	6						AGCACAAGTGGATGAGAGAGC	0.428000													4	23					0	0	0.150653	0	0
UNC93A	54346	broad.mit.edu	37	6	167719471	167719471	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:167719471C>G	ENST00000230256.3	+	6	1084	c.909C>G	c.(907-909)gaC>gaG	p.D303E	UNC93A_ENST00000366829.2_Missense_Mutation_p.D261E	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	303						integral to membrane|plasma membrane		p.D303E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CGGCCACTGACGCGCTGTGCT	0.607000													31	110					0	0	0.173368	0	0
CD1E	913	broad.mit.edu	37	1	158326382	158326382	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158326382G>T	ENST00000444681.2	+	4	994		c.e4+1		CD1E_ENST00000368164.3_Splice_Site|CD1E_ENST00000368155.3_Splice_Site|CD1E_ENST00000368166.3_Splice_Site|CD1E_ENST00000434258.1_3'UTR|CD1E_ENST00000368167.3_Splice_Site|CD1E_ENST00000368165.3_Splice_Site|CD1E_ENST00000368157.1_Splice_Site|CD1E_ENST00000368161.3_Splice_Site|CD1E_ENST00000368154.1_Splice_Site|CD1E_ENST00000368156.1_Splice_Site|CD1E_ENST00000452291.2_Splice_Site|CD1E_ENST00000368163.3_Splice_Site|CD1E_ENST00000368160.3_Splice_Site	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule						antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.?(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AAAAACAGAGGTGAGCTTTTT	0.368000													7	34					0.0381472	0.0396061	0.038147	1	0
ACSM2A	123876	broad.mit.edu	37	16	20487038	20487038	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:20487038G>A	ENST00000573854.1	+	8	1155	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E	ACSM2A_ENST00000417235.2_Silent_p.E268E|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Silent_p.E347E|ACSM2A_ENST00000219054.6_Silent_p.E347E|ACSM2A_ENST00000536134.1_Silent_p.E119E|ACSM2A_ENST00000396104.2_Silent_p.E347E	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	347					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.E347E(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AAACTCTGGAGAACTGGAGGG	0.517000													25	138					0	0	0.116897	0	0
KDM4D	55693	broad.mit.edu	37	11	94731714	94731714	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:94731714G>T	ENST00000335080.5	+	3	2010	c.1178G>T	c.(1177-1179)aGt>aTt	p.S393I	KDM4D_ENST00000536741.1_Missense_Mutation_p.S393I	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	393					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.S393I(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCTGCCCGCAGTGGGACACGG	0.637000													6	23					0.00116845	0.0013046	0.217242	1	0
ROR1	4919	broad.mit.edu	37	1	64515413	64515413	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:64515413G>T	ENST00000371079.1	+	3	589	c.214G>T	c.(214-216)Ggc>Tgc	p.G72C	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.G72C	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	72	Ig-like C2-type.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	p.G72C(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CACGTCTCTGGGCCAGACAGC	0.557000													16	68					1.3612e-06	1.86498e-06	0.132662	1	0
L1CAM	3897	broad.mit.edu	37	X	153129777	153129777	+	Splice_Site	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:153129777C>T	ENST00000370060.1	-	25	3511	c.3322_splice	c.e25+1	p.G1108_splice	L1CAM_ENST00000370055.1_Splice_Site_p.G1103_splice|L1CAM_ENST00000361699.4_Splice_Site_p.G1108_splice|L1CAM_ENST00000361981.3_Splice_Site_p.G1103_splice|L1CAM_ENST00000370057.3_Splice_Site_p.G1108_splice|L1CAM_ENST00000538883.1_Splice_Site_p.G1110_splice|L1CAM_ENST00000543994.1_Splice_Site_p.G1110_splice	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1108	Fibronectin type-III 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.?(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGCCTCACCTGTGCCATTG	0.597000													20	92					0	0	0.234183	0	0
MNDA	4332	broad.mit.edu	37	1	158813815	158813815	+	Missense_Mutation	SNP	C	C	A	rs149728698		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158813815C>A	ENST00000368141.4	+	4	734	c.473C>A	c.(472-474)cCc>cAc	p.P158H		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	158					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.P158H(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CAGAGTAAGCCCCCAGGTCCC	0.463000													20	82					8.34094e-07	1.15139e-06	0.204396	1	0
FERMT1	55612	broad.mit.edu	37	20	6068532	6068532	+	Splice_Site	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:6068532T>A	ENST00000217289.4	-	11	2053		c.e11-2		FERMT1_ENST00000536936.1_Splice_Site|FERMT1_ENST00000478194.1_Splice_Site	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1						cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	p.?(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CTTCGCAGCCTGAAGGACAAA	0.393000													10	44					0	0	0.058154	0	0
SDHA	6389	broad.mit.edu	37	5	235330	235330	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:235330G>T	ENST00000264932.6	+	9	1251	c.1136G>T	c.(1135-1137)cGc>cTc	p.R379L	SDHA_ENST00000504309.1_Missense_Mutation_p.R379L|SDHA_ENST00000510361.1_Missense_Mutation_p.R331L	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	379					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	p.R379L(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CTGGCCACGCGCCTGCCTGGC	0.592000									Familial Paragangliomas				5	46					0.184627	0.186922	0.184627	1	0
RYR3	6263	broad.mit.edu	37	15	33916196	33916196	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:33916196T>C	ENST00000389232.4	+	20	2616	c.2546T>C	c.(2545-2547)tTc>tCc	p.F849S	RYR3_ENST00000415757.3_Missense_Mutation_p.F849S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	849	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.F849S(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAAGCCTCTTTCATCCCATGC	0.438000													43	59					0	0	0.139131	0	0
SORCS3	22986	broad.mit.edu	37	10	106959779	106959779	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:106959779C>T	ENST00000369701.3	+	15	2259	c.2032C>T	c.(2032-2034)Cgc>Tgc	p.R678C	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	678						integral to membrane	neuropeptide receptor activity	p.R678F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTTCAGCCTCCGCTCCGAATG	0.493000													8	58					0	0	0.038147	0	0
SART3	9733	broad.mit.edu	37	12	108936916	108936916	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:108936916G>T	ENST00000228284.3	-	6	1028	c.794C>A	c.(793-795)aCa>aAa	p.T265K	SART3_ENST00000431469.2_Missense_Mutation_p.T265K	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	265					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	p.T265K(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CTCTGCAAATGTGGCCTCCAT	0.438000									Porokeratosis				9	44					0.000673444	0.000759438	0.069234	1	0
CD1C	911	broad.mit.edu	37	1	158261151	158261151	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158261151C>G	ENST00000368170.3	+	2	568	c.289C>G	c.(289-291)Cgg>Ggg	p.R97G		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	97					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.R97G(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TGGATTAACTCGGGAGATTCA	0.368000													12	55					0	0	0.093190	0	0
GOLIM4	27333	broad.mit.edu	37	3	167742850	167742850	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:167742850C>A	ENST00000470487.1	-	13	2346	c.1657G>T	c.(1657-1659)Gac>Tac	p.D553Y	GOLIM4_ENST00000309027.4_Missense_Mutation_p.D525Y	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	553	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		p.D553Y(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTATTAGGGTCATCTGCTGGG	0.333000													5	84					0.000602214	0.000684377	0.184627	1	0
KRTAP19-4	337971	broad.mit.edu	37	21	31869266	31869266	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr21:31869266C>A	ENST00000334058.2	-	1	185	c.163G>T	c.(163-165)Gga>Tga	p.G55*		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	55						intermediate filament		p.G55*(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCATATCCTCCATAGCATGAT	0.463000													32	74					1.836e-18	3.37714e-18	0.193644	1	0
ZAN	7455	broad.mit.edu	37	7	100359848	100359848	+	RNA	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:100359848G>T	ENST00000542585.1	+	0	4001				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.G1285C(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACATACTCTGGCAAACTCTG	0.572000													7	20					0.000157383	0.000187733	0.038147	1	0
CDC7	8317	broad.mit.edu	37	1	91989846	91989846	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:91989846G>A	ENST00000428239.1	+	12	1838	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	CDC7_ENST00000430031.2_Missense_Mutation_p.E499K|CDC7_ENST00000234626.6_Missense_Mutation_p.E527K	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	527	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E527K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		ttgttttgatgagtataATAC	0.388000													19	108					0	0	0.204396	0	0
OR2T1	26696	broad.mit.edu	37	1	248570181	248570181	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248570181A>C	ENST00000366474.1	+	1	886	c.886A>C	c.(886-888)Act>Cct	p.T296P		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T296P(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCCCACATGACTGTGGTGTC	0.517000													19	85					0	0	0.204396	0	0
VASH2	79805	broad.mit.edu	37	1	213134569	213134569	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:213134569C>A	ENST00000366968.4	+	4	493	c.143C>A	c.(142-144)gCg>gAg	p.A48E	VASH2_ENST00000517399.1_Missense_Mutation_p.A113E|VASH2_ENST00000366965.2_Missense_Mutation_p.A113E|VASH2_ENST00000366967.2_Missense_Mutation_p.A9E|VASH2_ENST00000366966.2_Missense_Mutation_p.A48E|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366964.3_5'UTR	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN	vasohibin 2	113					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm		p.A113V(1)|p.A113E(1)|p.A48V(1)|p.A48E(1)		endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		TGGCTCCAGGCGATCCAGAAT	0.522000													19	101					2.27731e-05	2.88551e-05	0.234183	1	0
GPATCH2	55105	broad.mit.edu	37	1	217783678	217783678	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:217783678C>A	ENST00000366935.3	-	5	1193	c.1083G>T	c.(1081-1083)ggG>ggT	p.G361G	GPATCH2_ENST00000366934.3_Silent_p.G361G	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	361						intracellular	nucleic acid binding	p.G361G(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		AAGTTGGAGTCCCTCCAGATT	0.343000													18	75					1.50039e-11	2.47421e-11	0.234183	1	0
KCNU1	157855	broad.mit.edu	37	8	36767015	36767015	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:36767015C>G	ENST00000399881.3	+	21	2330	c.2293C>G	c.(2293-2295)Cga>Gga	p.R765G		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	765						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.R765G(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GAGAGAATGGCGATTTCTCTG	0.378000													13	109					0	0	0.105934	0	0
TSSK3	81629	broad.mit.edu	37	1	32829695	32829695	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:32829695C>T	ENST00000373534.3	+	2	1150	c.645C>T	c.(643-645)atC>atT	p.I215I	FAM229A_ENST00000415596.1_5'UTR	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	215	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.I215I(1)		NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				ACACAGACATCCCCAAGATGC	0.567000													24	87					0	0	0.083992	0	0
KCNG4	93107	broad.mit.edu	37	16	84256462	84256462	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:84256462G>T	ENST00000308251.4	-	3	989	c.921C>A	c.(919-921)taC>taA	p.Y307*		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	307						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.Y307*(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CCAGCGACACGTAGTATGGGG	0.642000													4	15					0.00909568	0.0096906	0.150653	1	0
ASTN2	23245	broad.mit.edu	37	9	119737583	119737583	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:119737583C>T	ENST00000313400.4	-	10	1893	c.1793G>A	c.(1792-1794)aGc>aAc	p.S598N	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.S547N|ASTN2_ENST00000373996.3_Missense_Mutation_p.S594N			O75129	ASTN2_HUMAN	astrotactin 2	598						integral to membrane		p.S547N(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AAAGCTTTTGCTGACAGGAAG	0.542000													5	59					0	0	0.184627	0	0
DOK1	1796	broad.mit.edu	37	2	74783136	74783136	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:74783136C>T	ENST00000233668.5	+	4	1239	c.570C>T	c.(568-570)gcC>gcT	p.A190A	DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000340004.6_Intron|DOK1_ENST00000409429.1_Silent_p.A51A	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	190	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding	p.A190A(1)		endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCGTGGGGGCCCAGAGTCAGA	0.652000													5	48					0	0	0.217242	0	0
SPDL1	54908	broad.mit.edu	37	5	169028583	169028583	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:169028583G>C	ENST00000265295.4	+	11	1903	c.1624G>C	c.(1624-1626)Gct>Cct	p.A542P		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1									p.A542P(1)									TCCCGCTGACGCTGAGGCCTT	0.507000													7	25					0	0	0.038147	0	0
DEFB118	117285	broad.mit.edu	37	20	29960763	29960763	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:29960763C>G	ENST00000253381.2	+	2	195	c.162C>G	c.(160-162)tgC>tgG	p.C54W		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	54					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		p.C54W(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTCGAGCTTGCTGCATTCCAT	0.428000													18	51					0	0	0.160694	0	0
NAV1	89796	broad.mit.edu	37	1	201779675	201779675	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:201779675G>T	ENST00000367296.4	+	24	5006	c.4586G>T	c.(4585-4587)aGc>aTc	p.S1529I	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.S1135I|NAV1_ENST00000367300.3_Missense_Mutation_p.S1469I|NAV1_ENST00000367297.4_Missense_Mutation_p.S1521I|NAV1_ENST00000295624.6_Missense_Mutation_p.S1526I|NAV1_ENST00000367302.1_Missense_Mutation_p.S1482I	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1529					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	p.S1526I(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGCGTCGACAGCCTGGTGTTC	0.577000													8	8					5.4927e-09	8.36169e-09	0.047766	1	0
OR5I1	10798	broad.mit.edu	37	11	55703324	55703324	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:55703324G>C	ENST00000301532.3	-	1	552	c.553C>G	c.(553-555)Ccc>Gcc	p.P185A		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P185A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTAAGCAGGGGAGGGAGGTCA	0.403000													5	25					0	0	0.217242	0	0
ITIH5	80760	broad.mit.edu	37	10	7621752	7621752	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:7621752G>T	ENST00000256861.6	-	9	1462	c.1384C>A	c.(1384-1386)Cac>Aac	p.H462N	ITIH5_ENST00000397145.2_Missense_Mutation_p.H462N|ITIH5_ENST00000446830.2_Missense_Mutation_p.H244N|ITIH5_ENST00000397146.2_Missense_Mutation_p.H462N|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.H248N	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	462	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.H462N(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCCTCCTCGTGCACGCGCCGT	0.612000													4	49					0.00024832	0.000293815	0.150653	1	0
PCDHA10	56139	broad.mit.edu	37	5	140237058	140237058	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140237058G>T	ENST00000307360.5	+	1	1425	c.1425G>T	c.(1423-1425)acG>acT	p.T475T	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.T475T|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.T475T(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCTTCACGGTGTCTGCGT	0.657000													30	69					3.11337e-16	5.57972e-16	0.173368	1	0
UBA1	7317	broad.mit.edu	37	X	47062972	47062972	+	Silent	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:47062972C>G	ENST00000335972.6	+	14	1635	c.1452C>G	c.(1450-1452)ctC>ctG	p.L484L	UBA1_ENST00000490869.1_3'UTR|UBA1_ENST00000377351.4_Silent_p.L484L	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	484	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	p.L484L(1)		breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTGAGCTGCTCAAGAACTTTG	0.527000													10	36					0	0	0.080935	0	0
TAF5L	27097	broad.mit.edu	37	1	229738095	229738095	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:229738095A>T	ENST00000366675.3	-	4	907	c.819T>A	c.(817-819)acT>acA	p.T273T	TAF5L_ENST00000258281.2_Silent_p.T273T|TAF5L_ENST00000366676.1_Silent_p.T273T	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	273					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.T273T(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				AGATTTCTGCAGTGTTCAACA	0.478000													20	36					0	0	0.219247	0	0
RUNX3	864	broad.mit.edu	37	1	25229066	25229066	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:25229066G>C	ENST00000399916.1	-	6	1275	c.837C>G	c.(835-837)gaC>gaG	p.D279E	RUNX3_ENST00000338888.3_Missense_Mutation_p.D279E|RUNX3_ENST00000540420.1_Missense_Mutation_p.D172E|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000308873.6_Missense_Mutation_p.D265E	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	265	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.D279E(1)|p.D265E(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GCATCCTGGGGTCTGGGAAGC	0.672000													20	44					0	0	0.204396	0	0
BPIFB2	80341	broad.mit.edu	37	20	31601738	31601738	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:31601738C>A	ENST00000170150.3	+	5	626	c.431C>A	c.(430-432)gCc>gAc	p.A144D		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	144						extracellular region	lipid binding	p.A144D(1)									TCGGGCCACGCCAACGAGTTT	0.597000													5	16					0.00198382	0.00218175	0.029380	1	0
VPS4A	27183	broad.mit.edu	37	16	69350147	69350147	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:69350147G>T	ENST00000254950.11	+	3	309	c.153G>T	c.(151-153)aaG>aaT	p.K51N	RP11-343C2.3_ENST00000570054.2_Missense_Mutation_p.K75N|VPS4A_ENST00000569775.1_3'UTR	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting 4 homolog A (S. cerevisiae)	51	Interaction with CHMP1B.|MIT.				cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding	p.K51N(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				ACAGCGACAAGGCCAAGGAGA	0.602000													6	38					0.00198382	0.00218175	0.029380	1	0
REG1A	5967	broad.mit.edu	37	2	79348047	79348047	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:79348047C>A	ENST00000233735.1	+	2	163	c.60C>A	c.(58-60)agC>agA	p.S20R		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	20					positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.S20R(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TGTCTCAGAGCCAAGGTAAGA	0.438000													5	32					1.23904e-05	1.58364e-05	0.184627	1	0
IGSF3	3321	broad.mit.edu	37	1	117122231	117122231	+	Silent	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:117122231A>G	ENST00000369486.3	-	10	3882	c.3117T>C	c.(3115-3117)gaT>gaC	p.D1039D	IGSF3_ENST00000369483.1_Silent_p.D1059D|IGSF3_ENST00000318837.6_Silent_p.D1059D	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1039	Ig-like C2-type 8.					integral to membrane		p.D1059D(1)|p.D1039D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CAAAGACAGCATCTGGGCCCA	0.652000													5	17					0	0	0.184627	0	0
DCLK2	166614	broad.mit.edu	37	4	151023641	151023641	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:151023641G>T	ENST00000296550.7	+	2	1187	c.433G>T	c.(433-435)Gtg>Ttg	p.V145L	DCLK2_ENST00000506325.1_Missense_Mutation_p.V145L|DCLK2_ENST00000302176.8_Missense_Mutation_p.V145L	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	145	Doublecortin 1.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	p.V145L(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGAGAGTTACGTGTGTGCATC	0.388000													9	37					5.4927e-09	8.36169e-09	0.047766	1	0
OXTR	5021	broad.mit.edu	37	3	8809287	8809287	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:8809287C>A	ENST00000316793.3	-	3	1211	c.587G>T	c.(586-588)gGa>gTa	p.G196V	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	196					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	p.G196V(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GGCCTTGGGTCCCCAGGGCTG	0.627000													7	31					1.12685e-05	1.45676e-05	0.047766	1	0
RIMS2	9699	broad.mit.edu	37	8	105001583	105001583	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:105001583A>G	ENST00000507740.1	+	14	2590	c.2354A>G	c.(2353-2355)tAt>tGt	p.Y785C	RIMS2_ENST00000406091.3_Missense_Mutation_p.Y993C|RIMS2_ENST00000436393.2_Missense_Mutation_p.Y771C|RIMS2_ENST00000262231.10_Missense_Mutation_p.Y832C	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1055					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.Y785C(2)|p.Y993C(1)|p.Y771C(1)|p.Y1060C(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACCGGACATTATAATACAATT	0.373000										HNSCC(12;0.0054)			16	69					0	0	0.146539	0	0
RELN	5649	broad.mit.edu	37	7	103368565	103368565	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:103368565C>A	ENST00000428762.1	-	7	905	c.746G>T	c.(745-747)cGa>cTa	p.R249L	RELN_ENST00000343529.5_Missense_Mutation_p.R249L|RELN_ENST00000424685.2_Missense_Mutation_p.R249L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	249					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.R249L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TACCAGTTCTCGTGGGCCATA	0.403000													17	32					4.63292e-17	8.35408e-17	0.204396	1	0
TLN1	7094	broad.mit.edu	37	9	35700302	35700302	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:35700302G>A	ENST00000314888.9	-	49	6899	c.6546C>T	c.(6544-6546)atC>atT	p.I2182I	TLN1_ENST00000540444.1_Silent_p.I2070I	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2182					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	p.I2182M(1)|p.I2182I(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTGCCATGGTGATACCCTTGG	0.537000													11	35					0	0	0.069234	0	0
OR51V1	283111	broad.mit.edu	37	11	5221366	5221366	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:5221366G>T	ENST00000321255.1	-	1	564	c.565C>A	c.(565-567)Ctg>Atg	p.L189M		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L189M(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGGTGCAGGCAGAAAGAG	0.398000													12	34					0.010729	0.0114142	0.080935	1	0
DNAJC10	54431	broad.mit.edu	37	2	183582905	183582905	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:183582905G>T	ENST00000264065.6	+	3	507	c.92G>T	c.(91-93)gGc>gTc	p.G31V	DNAJC10_ENST00000469118.1_3'UTR|DNAJC10_ENST00000537515.1_Missense_Mutation_p.G31V	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	31					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	p.G31V(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATTTTAGTGGGCACAGATCAG	0.363000													7	47					2.0095e-06	2.71264e-06	0.029380	1	0
TG	7038	broad.mit.edu	37	8	133881998	133881998	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:133881998C>A	ENST00000220616.4	+	3	241	c.201C>A	c.(199-201)ggC>ggA	p.G67G	TG_ENST00000377869.1_Silent_p.G67G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	67	Thyroglobulin type-1 1.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.R68G(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGAACGACGGCCGCTCCTGCT	0.647000													5	43					0.000157383	0.000187733	0.038147	1	0
ABLIM3	22885	broad.mit.edu	37	5	148586668	148586668	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:148586668C>A	ENST00000506113.1	+	5	1028	c.546C>A	c.(544-546)agC>agA	p.S182R	ABLIM3_ENST00000309868.7_Missense_Mutation_p.S182R|ABLIM3_ENST00000504238.1_Missense_Mutation_p.S182R|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.S182R|ABLIM3_ENST00000356541.3_Missense_Mutation_p.S182R|ABLIM3_ENST00000508983.1_Missense_Mutation_p.S182R|RP11-331K21.1_ENST00000522685.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	182	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	p.S182R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCTGCAGCGTCATCCTCA	0.622000													6	29					3.59834e-05	4.50483e-05	0.217242	1	0
TRPA1	8989	broad.mit.edu	37	8	72967971	72967971	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:72967971G>A	ENST00000262209.4	-	11	1521	c.1314C>T	c.(1312-1314)tcC>tcT	p.S438S	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	438						integral to plasma membrane		p.S438S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGGAATGAATGGACACATTAA	0.408000													6	30					0	0	0.047766	0	0
APOA2	336	broad.mit.edu	37	1	161192794	161192794	+	Silent	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:161192794C>G	ENST00000367990.3	-	3	156	c.99G>C	c.(97-99)ctG>ctC	p.L33L	APOA2_ENST00000481413.1_5'UTR	NM_001643.1	NP_001634.1	P02652	APOA2_HUMAN	apolipoprotein A-II	33					cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling	chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity	p.L33L(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACTGAGAAACCAGGCTCTCCA	0.547000													9	72					0	0	0.058154	0	0
LRRN1	57633	broad.mit.edu	37	3	3887744	3887744	+	Silent	SNP	A	A	T	rs150270030	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:3887744A>T	ENST00000319331.3	+	2	2180	c.1419A>T	c.(1417-1419)tcA>tcT	p.S473S	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	473	Ig-like C2-type.					integral to membrane		p.S473S(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AAACCCTTTCAGATAAATACA	0.438000													23	58					0	0	0.076483	0	0
TAF7	6879	broad.mit.edu	37	5	140698604	140698604	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140698604G>A	ENST00000313368.5	-	1	1726	c.1008C>T	c.(1006-1008)ctC>ctT	p.L336L		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	336					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding	p.L336L(1)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAAGAGCTGAGTTGCTCCT	0.403000													9	20					0	0	0.058154	0	0
AGFG2	3268	broad.mit.edu	37	7	100159952	100159952	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:100159952C>T	ENST00000300176.4	+	7	1070	c.948C>T	c.(946-948)gaC>gaT	p.D316D	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	316					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.D316D(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCTCGCAGACGTGGGCAGCT	0.637000													15	29					0	0	0.219247	0	0
HYAL4	23553	broad.mit.edu	37	7	123508347	123508347	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:123508347G>T	ENST00000223026.4	+	3	658	c.20G>T	c.(19-21)gGa>gTa	p.G7V	HYAL4_ENST00000476325.1_Missense_Mutation_p.G7V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	7					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	p.G7V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTATCTGAAGGACAGTTAAAG	0.343000													34	69					4.14481e-20	7.73065e-20	0.235728	1	0
TLR4	7099	broad.mit.edu	37	9	120476778	120476778	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:120476778G>T	ENST00000355622.6	+	3	2473	c.2372G>T	c.(2371-2373)aGg>aTg	p.R791M	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.R751M	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	791	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.R791M(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CTTCTCAGCAGGAACACTTAC	0.542000													13	55					0.0202918	0.0214013	0.119110	1	0
NBR1	4077	broad.mit.edu	37	17	41352478	41352478	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:41352478A>T	ENST00000422280.1	+	17	2780	c.2321A>T	c.(2320-2322)cAg>cTg	p.Q774L	NBR1_ENST00000590996.1_Missense_Mutation_p.Q774L|NBR1_ENST00000542611.1_Missense_Mutation_p.Q753L|NBR1_ENST00000589872.1_Missense_Mutation_p.Q774L|NBR1_ENST00000389312.4_Missense_Mutation_p.Q774L|NBR1_ENST00000341165.6_Missense_Mutation_p.Q774L	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	774					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	p.Q774L(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GAGGCTGGGCAGGAACCAGCT	0.607000													5	13					0	0	0.217242	0	0
TRAV6	6956	broad.mit.edu	37	14	22236760	22236760	+	RNA	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:22236760G>C	ENST00000390428.3	+	0	32																											GAGAAGGCTGGGTCTACATTT	0.473000													23	67					0	0	0.083992	0	0
RYR3	6263	broad.mit.edu	37	15	34115218	34115218	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:34115218G>C	ENST00000389232.4	+	81	11087	c.11017G>C	c.(11017-11019)Gag>Cag	p.E3673Q	RYR3_ENST00000415757.3_Missense_Mutation_p.E3668Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3673					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E3672Q(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTACCTAAAGGAGAAAAAGGA	0.423000													18	24					0	0	0.219247	0	0
SPATA16	83893	broad.mit.edu	37	3	172835507	172835507	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:172835507G>T	ENST00000351008.3	-	2	198	c.15C>A	c.(13-15)agC>agA	p.S5R		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	5					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	p.S5R(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AACTCCTACTGCTTCCTGCAT	0.428000													11	130					0.010729	0.0114142	0.080935	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147092781	147092781	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:147092781G>T	ENST00000361727.3	+	10	2095	c.1579G>T	c.(1579-1581)Gac>Tac	p.D527Y		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	527	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.D527Y(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CATTCAAGTGGACGATCAACT	0.428000										HNSCC(39;0.1)			30	89					2.61193e-14	4.51544e-14	0.144211	1	0
TRIM3	10612	broad.mit.edu	37	11	6472661	6472661	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:6472661G>C	ENST00000525074.1	-	8	1935	c.1541C>G	c.(1540-1542)tCc>tGc	p.S514C	TRIM3_ENST00000359518.3_Missense_Mutation_p.S514C|TRIM3_ENST00000345851.3_Missense_Mutation_p.S514C|TRIM3_ENST00000537602.1_Missense_Mutation_p.S436C|TRIM3_ENST00000536344.1_Missense_Mutation_p.S395C	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	514					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	p.S514C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCCTCATTGGAGAAAACCTG	0.607000													10	34					0	0	0.069234	0	0
OR5J2	282775	broad.mit.edu	37	11	55944482	55944482	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:55944482T>A	ENST00000312298.1	+	1	389	c.389T>A	c.(388-390)tTg>tAg	p.L130*		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L130*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GTGAGTCCCTTGCTTTACACT	0.453000													13	62					0	0	0.093190	0	0
SLC12A1	6557	broad.mit.edu	37	15	48566838	48566838	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:48566838C>A	ENST00000396577.3	+	20	2688	c.2473C>A	c.(2473-2475)Ctt>Att	p.L825I	SLC12A1_ENST00000558405.1_Missense_Mutation_p.L825I|SLC12A1_ENST00000380993.3_Missense_Mutation_p.L825I	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	825					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.L825I(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CTCTCAGGTTCTTCAGGTGCA	0.408000													9	12					5.4927e-09	8.36169e-09	0.047766	1	0
OR2G3	81469	broad.mit.edu	37	1	247769067	247769067	+	Nonsense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:247769067C>G	ENST00000320002.2	+	1	212	c.180C>G	c.(178-180)taC>taG	p.Y60*	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y60*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCCCAATGTACTTTTTTCTCA	0.423000													39	217					0	0	0.235728	0	0
TBCC	6903	broad.mit.edu	37	6	42713641	42713641	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:42713641G>T	ENST00000244625.2	-	2	734	c.171C>A	c.(169-171)agC>agA	p.S57R	TBCC_ENST00000372876.1_Missense_Mutation_p.S57R			Q15814	TBCC_HUMAN	tubulin folding cofactor C	57					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	p.S57R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CGAAAAAGTGGCTGTTCTCCT	0.617000													11	28					2.27111e-07	3.22934e-07	0.093190	1	0
CSMD3	114788	broad.mit.edu	37	8	113317142	113317142	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:113317142C>A	ENST00000297405.5	-	52	8318	c.8074G>T	c.(8074-8076)Gtt>Ttt	p.V2692F	CSMD3_ENST00000343508.3_Missense_Mutation_p.V2652F|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.V2622F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2692	Sushi 16.					integral to membrane|plasma membrane		p.V2692F(1)|p.V2652I(1)|p.V2652F(1)|p.V2692I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGACATGTAACAACTATACAA	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	20					0.0215528	0.0226011	0.217242	1	0
TAOK3	51347	broad.mit.edu	37	12	118598074	118598074	+	Silent	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:118598074T>C	ENST00000392533.3	-	19	2719	c.2229A>G	c.(2227-2229)gaA>gaG	p.E743E	TAOK3_ENST00000419821.2_Silent_p.E743E|TAOK3_ENST00000537952.1_Silent_p.E283E|TAOK3_ENST00000543709.1_5'UTR	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	743					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.E743E(1)		central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGGAGTAACTTCCAACTGGT	0.378000													25	120					0	0	0.099896	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13399541	13399541	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:13399541G>T	ENST00000284110.1	-	2	1991	c.1194C>A	c.(1192-1194)acC>acA	p.T398T	HS3ST3A1_ENST00000578576.1_Silent_p.T196T	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	398						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	p.T398T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGTCGTGCCCGGTCATCTGGT	0.453000													6	23					0.0381472	0.0396061	0.038147	1	0
FSCN3	29999	broad.mit.edu	37	7	127239547	127239547	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:127239547G>T	ENST00000265825.5	+	5	1452	c.1233G>T	c.(1231-1233)caG>caT	p.Q411H	FSCN3_ENST00000420086.2_Missense_Mutation_p.Q277H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	411						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	p.Q411H(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						AGTGCAACCAGGATCAGCCCG	0.532000													20	70					5.35356e-11	8.71067e-11	0.076483	1	0
SBK1	388228	broad.mit.edu	37	16	28331561	28331561	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:28331561G>T	ENST00000341901.4	+	4	1383	c.594G>T	c.(592-594)acG>acT	p.T198T		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	198	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity	p.T198T(1)		kidney(1)|lung(3)|ovary(1)	5						TCGGCATGACGCGCCGCGTGG	0.716000													3	7					0.150653	0.15348	0.150653	1	0
CD244	51744	broad.mit.edu	37	1	160811393	160811393	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:160811393C>A	ENST00000368034.4	-	2	537	c.360G>T	c.(358-360)acG>acT	p.T120T	CD244_ENST00000368033.3_Silent_p.T120T|CD244_ENST00000368032.2_Silent_p.T120T|CD244_ENST00000322302.7_Silent_p.T120T	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	120	Ig-like 1.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	p.T120T(2)		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)			AAACCTGGAACGTGGCTGTCT	0.468000													12	20					6.40141e-05	7.87949e-05	0.080935	1	0
MYH2	4620	broad.mit.edu	37	17	10435163	10435163	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:10435163C>A	ENST00000245503.5	-	22	2868	c.2484G>T	c.(2482-2484)atG>atT	p.M828I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.M828I|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	828					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.M828I(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						GCTTGACATTCATGAAGGATC	0.418000													16	49					2.32078e-09	3.58889e-09	0.132662	1	0
VPS33A	65082	broad.mit.edu	37	12	122723133	122723133	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:122723133C>A	ENST00000267199.4	-	10	1415		c.e10+1		RP11-512M8.5_ENST00000535844.1_Splice_Site	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)						lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	p.?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		aatataCTCACCTGGAGAATC	0.398000													9	64					5.4927e-09	8.36169e-09	0.047766	1	0
ABCG2	9429	broad.mit.edu	37	4	89052318	89052318	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:89052318G>A	ENST00000237612.3	-	5	971	c.426C>T	c.(424-426)ttC>ttT	p.F142F	ABCG2_ENST00000515655.1_Silent_p.F142F	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	142	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	p.F142F(2)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	GAGCTGCTGAGAACTGTAAGT	0.398000													29	83					0	0	0.125774	0	0
PSG9	5678	broad.mit.edu	37	19	43762581	43762581	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:43762581G>A	ENST00000244293.7	-	4	803	c.737C>T	c.(736-738)cCt>cTt	p.P246L	PSG9_ENST00000270077.3_Missense_Mutation_p.P339L|PSG9_ENST00000443718.3_Missense_Mutation_p.P246L|PSG9_ENST00000593948.1_Missense_Mutation_p.P246L|PSG9_ENST00000291752.5_Missense_Mutation_p.P153L|PSG9_ENST00000418820.2_Missense_Mutation_p.P246L|PSG9_ENST00000596730.1_Missense_Mutation_p.P153L			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	244	Ig-like C2-type 2.				female pregnancy	extracellular region		p.P339L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGTGAATGAAGGGTAAATTCT	0.468000													59	44					0	0	0.139131	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963350	73963350	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:73963350G>T	ENST00000373468.1	-	3	1693	c.1042C>A	c.(1042-1044)Cga>Aga	p.R348R	KIAA2022_ENST00000055682.5_Silent_p.R348R			Q5QGS0	K2022_HUMAN	KIAA2022	348					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.R348R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTAGACTCTCGCTTGGGGCAG	0.468000													14	61					0.00185496	0.00205857	0.105934	1	0
ARHGAP12	94134	broad.mit.edu	37	10	32098205	32098205	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:32098205C>A	ENST00000375250.5	-	15	2232	c.1991G>T	c.(1990-1992)aGt>aTt	p.S664I	ARHGAP12_ENST00000311380.4_Missense_Mutation_p.S642I|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.S642I|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.S689I|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.S694I	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	694	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S694I(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GAGGTTGCCACTTACTCTGTA	0.358000													5	48					0.014758	0.0155761	0.184627	1	0
REG3A	5068	broad.mit.edu	37	2	79385498	79385498	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:79385498C>G	ENST00000393878.1	-	3	541	c.287G>C	c.(286-288)gGt>gCt	p.G96A	REG3A_ENST00000409839.3_Missense_Mutation_p.G96A|REG3A_ENST00000305165.2_Missense_Mutation_p.G96A	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	96	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.G96A(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GTAGCTGTTACCAATGCTCTT	0.567000													10	41					0	0	0.093190	0	0
COL19A1	1310	broad.mit.edu	37	6	70850878	70850878	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:70850878T>A	ENST00000322773.4	+	20	1581	c.1479T>A	c.(1477-1479)gaT>gaA	p.D493E	COL19A1_ENST00000393344.1_Missense_Mutation_p.D115E	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	493	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.D493E(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AAAAAGGAGATAGAGTAAGTA	0.358000													24	75					0	0	0.108266	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769601	31769601	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:31769601G>T	ENST00000240587.4	-	2	1425	c.1098C>A	c.(1096-1098)taC>taA	p.Y366*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	366					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y366_G367>*(1)|p.Y183_G184>*(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCTGGTGGCCGTACCGATTAT	0.562000													68	117					3.82405e-32	7.29006e-32	0.139131	1	0
MTPAP	55149	broad.mit.edu	37	10	30611320	30611320	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:30611320C>A	ENST00000358107.4	-	7	1608	c.1609_splice	c.e7+1	p.D537_splice	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Splice_Site_p.D407_splice			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	407					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	p.D537Y(1)|p.D407Y(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CTAGTCTTACCTGCTAGGGTT	0.343000													7	34					1.12685e-05	1.45676e-05	0.047766	1	0
OR4C16	219428	broad.mit.edu	37	11	55339944	55339944	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:55339944T>A	ENST00000314634.3	+	1	341	c.341T>A	c.(340-342)aTc>aAc	p.I114N		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I114N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TTCATCCTCATCCTCACGGCT	0.507000													12	96					0	0	0.105934	0	0
CLCN1	1180	broad.mit.edu	37	7	143047730	143047730	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:143047730G>T	ENST00000343257.2	+	22	2665	c.2578G>T	c.(2578-2580)Gtc>Ttc	p.V860F		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	860	CBS 2.				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.V860F(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GCTCAGGGGCGTCCTGGCCCT	0.557000													20	124					2.37509e-13	4.03931e-13	0.219247	1	0
OR10R2	343406	broad.mit.edu	37	1	158450496	158450496	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158450496T>A	ENST00000368152.1	+	1	829	c.829T>A	c.(829-831)Ttc>Atc	p.F277I	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F277I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CTGTGCTTCCTTCATCTACCT	0.483000													6	48					0	0	0.217242	0	0
RPL37	6167	broad.mit.edu	37	5	40834695	40834695	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:40834695G>A	ENST00000274242.5	-	2	166	c.17C>T	c.(16-18)tCa>tTa	p.S6L	RPL37_ENST00000504562.1_5'UTR|RPL37_ENST00000508493.1_Missense_Mutation_p.S6L|RPL37_ENST00000509877.1_Missense_Mutation_p.S6L	NM_000997.4	NP_000988.1	P61927	RL37_HUMAN	ribosomal protein L37	6					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	metal ion binding|protein binding|rRNA binding|structural constituent of ribosome	p.S6L(1)		lung(3)|ovary(1)	4		Breast(839;0.238)				TCCAAACGATGACGTTCCCTT	0.468000													15	47					0	0	0.160694	0	0
TMTC1	83857	broad.mit.edu	37	12	29908738	29908738	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:29908738C>A	ENST00000256062.5	-	4	784	c.311G>T	c.(310-312)gGg>gTg	p.G104V	TMTC1_ENST00000552618.1_Missense_Mutation_p.G212V|TMTC1_ENST00000381224.2_Missense_Mutation_p.G104V|TMTC1_ENST00000551659.1_Missense_Mutation_p.G212V|TMTC1_ENST00000539277.1_Missense_Mutation_p.G212V	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	212						integral to membrane	binding	p.G104V(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)					CGCACAGGTCCCCAGAAACAA	0.493000													4	28					0.00024832	0.000293815	0.150653	1	0
CCDC42	146849	broad.mit.edu	37	17	8647024	8647024	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:8647024G>A	ENST00000293845.3	-	3	440	c.214C>T	c.(214-216)Ctg>Ttg	p.L72L	CCDC42_ENST00000539522.2_Silent_p.L72L	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	72								p.L72L(1)		kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						CGCAGGTTCAGGGTTTCCATT	0.577000													7	12					0	0	0.038147	0	0
FBN3	84467	broad.mit.edu	37	19	8130964	8130964	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:8130964C>A	ENST00000600128.1	-	64	8683	c.8269G>T	c.(8269-8271)Ggc>Tgc	p.G2757C	FBN3_ENST00000601739.1_Missense_Mutation_p.G2757C|FBN3_ENST00000270509.2_Missense_Mutation_p.G2757C			Q75N90	FBN3_HUMAN	fibrillin 3	2757						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.G2757C(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAGCTGACGCCACGGAGGTGA	0.682000													20	60					4.35082e-09	6.69286e-09	0.219247	1	0
SYNE3	161176	broad.mit.edu	37	14	95912351	95912351	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:95912351G>T	ENST00000334258.5	-	8	1541	c.1527C>A	c.(1525-1527)atC>atA	p.I509I	SYNE3_ENST00000553340.1_Silent_p.I509I|SYNE3_ENST00000557275.1_Silent_p.I509I|SYNE3_ENST00000554873.1_Silent_p.I266I	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3									p.I509I(3)		breast(1)|endometrium(2)|lung(25)	28						CCTGGCCAAAGATGCCAATCA	0.577000													25	66					3.08376e-08	4.57108e-08	0.083992	1	0
CNTNAP2	26047	broad.mit.edu	37	7	148080826	148080826	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:148080826C>A	ENST00000361727.3	+	22	4077	c.3561C>A	c.(3559-3561)atC>atA	p.I1187I	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Silent_p.I246I	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1187	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.I1187I(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCAACCAGATCGCCCCTCTCA	0.552000										HNSCC(39;0.1)			10	31					7.48243e-07	1.03974e-06	0.058154	1	0
IL12RB2	3595	broad.mit.edu	37	1	67861345	67861345	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:67861345C>G	ENST00000262345.1	+	16	2802	c.2162C>G	c.(2161-2163)cCc>cGc	p.P721R	IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P635R	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	721					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	p.P721R(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TTCAGACATCCCCCCTGCTCC	0.542000													5	22					0	0	0.217242	0	0
ACTN4	81	broad.mit.edu	37	19	39138465	39138465	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:39138465G>T	ENST00000252699.2	+	1	156	c.80G>T	c.(79-81)aGc>aTc	p.S27I	ACTN4_ENST00000390009.3_Missense_Mutation_p.S27I|ACTN4_ENST00000424234.2_Missense_Mutation_p.S27I	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	27	Actin-binding.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	p.S27I(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCGGGGGCAGCATGGGCGAC	0.731000													4	2					0.150653	0.15348	0.150653	1	0
CEP164	22897	broad.mit.edu	37	11	117257992	117257992	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:117257992G>T	ENST00000278935.3	+	15	1945	c.1798G>T	c.(1798-1800)Gcc>Tcc	p.A600S	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	600	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		p.A600S(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGAGGCAGTGGCCCAAGTACT	0.572000													8	63					0.00307968	0.00335674	0.038147	1	0
PCDHB2	56133	broad.mit.edu	37	5	140476327	140476327	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140476327G>T	ENST00000194155.4	+	1	2101	c.1953G>T	c.(1951-1953)gaG>gaT	p.E651D		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		651	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.E651D(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAATGGCGAGCCTCCGCGCT	0.721000													21	36					9.86323e-18	1.79398e-17	0.091800	1	0
STXBP5	134957	broad.mit.edu	37	6	147680374	147680374	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:147680374G>T	ENST00000367481.3	+	21	2460	c.2352G>T	c.(2350-2352)acG>acT	p.T784T	STXBP5_ENST00000321680.6_Silent_p.T820T|STXBP5_ENST00000179882.6_Silent_p.T475T|STXBP5_ENST00000367480.3_Silent_p.T767T	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	820					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	p.T784T(1)|p.T820T(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TTGGAACAACGCTAGGAACAG	0.493000													9	34					4.68919e-08	6.88813e-08	0.069234	1	0
USP26	83844	broad.mit.edu	37	X	132160979	132160979	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:132160979C>A	ENST00000511190.1	-	6	1739	c.1270G>T	c.(1270-1272)Gat>Tat	p.D424Y	USP26_ENST00000406273.1_Missense_Mutation_p.D424Y|USP26_ENST00000370832.1_Missense_Mutation_p.D424Y	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	424					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.D424Y(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GTGTCAGGATCATCAGCAAAA	0.368000													17	87					1.15088e-07	1.65087e-07	0.146539	1	0
OR2G2	81470	broad.mit.edu	37	1	247752093	247752093	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:247752093C>A	ENST00000320065.1	+	1	432	c.432C>A	c.(430-432)tgC>tgA	p.C144*	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C144*(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)			TCCATCTCTGCATGGCCTTGG	0.572000													29	153					8.88839e-20	1.65151e-19	0.153744	1	0
C11orf80	79703	broad.mit.edu	37	11	66605891	66605891	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:66605891T>A	ENST00000360962.4	+	15	1729	c.1722T>A	c.(1720-1722)gaT>gaA	p.D574E	C11orf80_ENST00000525449.2_Missense_Mutation_p.D382E|C11orf80_ENST00000527634.1_Missense_Mutation_p.D357E|C11orf80_ENST00000346672.4_Missense_Mutation_p.D383E|C11orf80_ENST00000532565.2_Missense_Mutation_p.D356E|C11orf80_ENST00000540737.1_Missense_Mutation_p.D408E	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	419								p.D574E(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						ACGCACCTGATAACAGCAGCC	0.443000													7	21					0	0	0.029380	0	0
COL6A6	131873	broad.mit.edu	37	3	130305379	130305379	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:130305379G>C	ENST00000358511.6	+	10	4031	c.4000G>C	c.(4000-4002)Gat>Cat	p.D1334H	COL6A6_ENST00000453409.2_Missense_Mutation_p.D1334H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1334	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen		p.D1334H(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						TGTTGCTCTGGATGGACCTGC	0.423000													10	90					0	0	0.093190	0	0
PTPN13	5783	broad.mit.edu	37	4	87693953	87693953	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:87693953G>T	ENST00000436978.1	+	32	5686	c.5206G>T	c.(5206-5208)Gat>Tat	p.D1736Y	PTPN13_ENST00000411767.2_Missense_Mutation_p.D1731Y|PTPN13_ENST00000511467.1_Missense_Mutation_p.D1736Y|PTPN13_ENST00000316707.6_Missense_Mutation_p.D1540Y|PTPN13_ENST00000427191.2_Missense_Mutation_p.D1712Y	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1731						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	p.D1736Y(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCTACCACCGGATATGGCTCC	0.383000													16	60					1.99824e-07	2.8524e-07	0.160694	1	0
OXSR1	9943	broad.mit.edu	37	3	38287626	38287626	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:38287626C>T	ENST00000311806.3	+	13	1543	c.1171C>T	c.(1171-1173)Cat>Tat	p.H391Y	OXSR1_ENST00000446845.1_Missense_Mutation_p.H391Y	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	391					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	p.H391Y(1)		skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GATCTCTGCTCATCTACCTCA	0.502000													12	46					0	0	0.105934	0	0
DAB2	1601	broad.mit.edu	37	5	39393458	39393458	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:39393458G>A	ENST00000545653.1	-	3	659	c.129C>T	c.(127-129)ttC>ttT	p.F43F	DAB2_ENST00000320816.6_Silent_p.F43F|DAB2_ENST00000339788.6_Silent_p.F43F|DAB2_ENST00000509337.1_Silent_p.F43F	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	43					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.F43F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CATCGCCTTTGAACCTTGCTA	0.388000													11	126					0	0	0.069234	0	0
CTNND2	1501	broad.mit.edu	37	5	11098738	11098738	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:11098738C>A	ENST00000304623.8	-	15	2775	c.2586G>T	c.(2584-2586)acG>acT	p.T862T	CTNND2_ENST00000503622.1_Silent_p.T525T|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.T429T|CTNND2_ENST00000511377.1_Silent_p.T771T|CTNND2_ENST00000359640.2_Intron	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	862					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.T862T(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCCCTTCCAGCGTGTCTGGAT	0.517000													11	42					0.000151284	0.000181939	0.105934	1	0
GATA6	2627	broad.mit.edu	37	18	19762931	19762931	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:19762931C>T	ENST00000269216.3	+	6	1824	c.1547C>T	c.(1546-1548)cCa>cTa	p.P516L	GATA6_ENST00000581694.1_Missense_Mutation_p.P516L	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	516					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.P516L(1)		NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CCCATGACTCCAACTTCCACC	0.383000													7	39					0	0	0.029380	0	0
OR4K5	79317	broad.mit.edu	37	14	20389047	20389047	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:20389047C>A	ENST00000315915.4	+	1	307	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F94L(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCATATCTTTCAGTGGCTGCA	0.423000													15	267					1.3612e-06	1.86498e-06	0.132662	1	0
MX1	4599	broad.mit.edu	37	21	42824753	42824753	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr21:42824753C>G	ENST00000398600.2	+	18	2740	c.1715C>G	c.(1714-1716)tCt>tGt	p.S572C	MX1_ENST00000398598.3_Missense_Mutation_p.S572C|MX1_ENST00000288383.6_Missense_Mutation_p.S549C|MX1_ENST00000455164.2_Missense_Mutation_p.S572C	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	572					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	p.S572C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GCAACAGACTCTTCCATGGAG	0.502000													35	148					0	0	0.246493	0	0
IL1RL2	8808	broad.mit.edu	37	2	102849440	102849440	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:102849440G>T	ENST00000264257.2	+	10	1279	c.1153G>T	c.(1153-1155)Gcc>Tcc	p.A385S	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.A385S|IL1RL2_ENST00000441515.2_Missense_Mutation_p.A267S	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	385	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	p.A385S(1)|p.A267S(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GCTGTATGACGCCTATGTCTT	0.498000													8	69					0.000157383	0.000187733	0.038147	1	0
CYP2B6	1555	broad.mit.edu	37	19	41522588	41522588	+	Silent	SNP	G	G	T	rs141626689		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:41522588G>T	ENST00000324071.4	+	9	1339	c.1332G>T	c.(1330-1332)gcG>gcT	p.A444A	CYP2B6_ENST00000593831.1_Silent_p.A208A|CYP2B6_ENST00000330446.5_Silent_p.A244A	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	444					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.A444A(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TCGCCCGTGCGGAATTGTTCC	0.582000													16	15					5.3912e-06	7.1267e-06	0.175082	1	0
NEUROD4	58158	broad.mit.edu	37	12	55421015	55421015	+	Silent	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:55421015C>G	ENST00000242994.3	+	2	1170	c.792C>G	c.(790-792)tcC>tcG	p.S264S		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	264					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S264S(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GGAACTTCTCCTTGAAGCAAG	0.512000													22	89					0	0	0.069288	0	0
SLC39A12	221074	broad.mit.edu	37	10	18280127	18280127	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:18280127T>A	ENST00000377369.2	+	8	1590	c.1317T>A	c.(1315-1317)caT>caA	p.H439Q	SLC39A12_ENST00000377374.4_Missense_Mutation_p.H439Q|SLC39A12_ENST00000377371.3_Missense_Mutation_p.H439Q|SLC39A12_ENST00000539911.1_Missense_Mutation_p.H305Q	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	439					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.H439Q(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GGCATTTCCATGAAAGCAAAG	0.358000													5	60					0	0	0.184627	0	0
COL24A1	255631	broad.mit.edu	37	1	86591549	86591549	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:86591549C>A	ENST00000370571.2	-	3	836	c.470G>T	c.(469-471)aGt>aTt	p.S157I	COL24A1_ENST00000436319.1_Missense_Mutation_p.S157I	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	157	Laminin G-like.|TSP N-terminal.				cell adhesion	collagen	extracellular matrix structural constituent	p.S157I(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATCATGAACACTGTAGTTGAA	0.343000													10	22					7.48243e-07	1.03974e-06	0.058154	1	0
LPHN2	23266	broad.mit.edu	37	1	82416772	82416772	+	Silent	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:82416772T>C	ENST00000370728.1	+	10	2208	c.1563T>C	c.(1561-1563)tgT>tgC	p.C521C	LPHN2_ENST00000370730.1_Silent_p.C521C|LPHN2_ENST00000335786.5_Silent_p.C521C|LPHN2_ENST00000394879.1_Silent_p.C521C|LPHN2_ENST00000370715.1_Silent_p.C521C|LPHN2_ENST00000370717.2_Silent_p.C521C|LPHN2_ENST00000359929.3_Silent_p.C521C|LPHN2_ENST00000370713.1_Silent_p.C521C|LPHN2_ENST00000370727.1_Silent_p.C521C|LPHN2_ENST00000271029.4_Silent_p.C521C|LPHN2_ENST00000370725.1_Silent_p.C521C|LPHN2_ENST00000370723.1_Silent_p.C521C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Silent_p.C521C|LPHN2_ENST00000370721.1_Silent_p.C459C			O95490	LPHN2_HUMAN	latrophilin 2	521					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.C521C(2)		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)		TTAGCAACTGTACCTCACACT	0.413000													9	67					0	0	0.047766	0	0
RSRC2	65117	broad.mit.edu	37	12	122991382	122991382	+	Splice_Site	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:122991382T>A	ENST00000331738.7	-	9	1269	c.1125_splice	c.e9+1	p.K375_splice	RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Splice_Site_p.K327_splice	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	375								p.K375M(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GAAACTCACCTTAATACCCAT	0.383000													19	77					0	0	0.234183	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884157	24884157	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:24884157C>T	ENST00000382554.3	+	9	3520	c.3202C>T	c.(3202-3204)Ccc>Tcc	p.P1068S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1068					DNA integration	integral to membrane	DNA binding	p.P1068S(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCTGGGCATCCCCTGGGATGG	0.627000													7	53					0	0	0.029380	0	0
GLRA2	2742	broad.mit.edu	37	X	14627266	14627266	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:14627266G>T	ENST00000218075.4	+	7	1399	c.869G>T	c.(868-870)gGc>gTc	p.G290V	GLRA2_ENST00000355020.4_Missense_Mutation_p.G290V|GLRA2_ENST00000443437.2_Missense_Mutation_p.G201V	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	290					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.G290V(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	GTCGCACTGGGCATCACCACA	0.463000													15	74					1.37285e-15	2.43657e-15	0.146539	1	0
SNHG16	100507246	broad.mit.edu	37	17	74554932	74554932	+	RNA	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:74554932C>G	ENST00000363315.1	+	0	60																											GTGAGGAGGTCTGACTTGCTG	0.373000													11	53					0	0	0.093190	0	0
TRPV1	7442	broad.mit.edu	37	17	3474934	3474934	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:3474934C>A	ENST00000174621.6	-	14	2515		c.e14-1		SHPK_ENST00000572705.1_Splice_Site|TRPV1_ENST00000576351.1_Splice_Site|TRPV1_ENST00000571088.1_Splice_Site|TRPV1_ENST00000425167.2_Splice_Site|TRPV1_ENST00000399756.4_Splice_Site|TRPV1_ENST00000399759.3_Splice_Site|TRPV1_ENST00000310522.5_Splice_Site			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1						cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	p.?(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CTCGTCCACCCTGCAGGGTAA	0.632000													4	8					0.150653	0.15348	0.150653	1	0
KRT25	147183	broad.mit.edu	37	17	38910703	38910703	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:38910703G>A	ENST00000312150.4	-	2	507	c.447C>T	c.(445-447)acC>acT	p.T149T		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	149	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.T149T(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TAGCATTGCTGGTGGTGGATG	0.383000													7	50					0	0	0.047766	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33751520	33751520	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:33751520C>T	ENST00000504830.1	-	3	958	c.623G>A	c.(622-624)tGt>tAt	p.C208Y	ADAMTS12_ENST00000515401.1_Missense_Mutation_p.C208Y|ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.C208Y	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	208					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C208Y(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTTTAATCCACAGGTTGGCTC	0.438000										HNSCC(64;0.19)			16	53					0	0	0.160694	0	0
SEPN1	57190	broad.mit.edu	37	1	26140371	26140371	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:26140371G>T	ENST00000361547.2	+	11	1442		c.e11-1		SEPN1_ENST00000354177.4_Splice_Site|SEPN1_ENST00000374315.1_Splice_Site|SEPN1_ENST00000494537.1_Splice_Site	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1							endoplasmic reticulum membrane|extracellular region	protein binding	p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCTGAACAGGTTCAGGGCG	0.597000													18	53					5.35267e-07	7.51629e-07	0.189662	1	0
OR2T11	127077	broad.mit.edu	37	1	248789791	248789791	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248789791A>T	ENST00000330803.2	-	1	700	c.639T>A	c.(637-639)acT>acA	p.T213T		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T213T(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGAGTAGGAAGTGGAGATGA	0.493000													8	41					0	0	0.047766	0	0
DDI1	414301	broad.mit.edu	37	11	103908012	103908012	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:103908012C>A	ENST00000302259.3	+	1	705	c.462C>A	c.(460-462)ccC>ccA	p.P154P	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	154					proteolysis		aspartic-type endopeptidase activity	p.P154P(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCTCCAACCCCCACGATCTGT	0.637000													8	34					5.18039e-06	6.86659e-06	0.038147	1	0
ZNF365	22891	broad.mit.edu	37	10	64159473	64159473	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:64159473G>T	ENST00000395254.3	+	5	1429	c.1149G>T	c.(1147-1149)ctG>ctT	p.L383L	ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0								p.L383L(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGGAGCTCCTGGGGTTTGGCC	0.532000													8	35					5.18039e-06	6.86659e-06	0.038147	1	0
C1QC	714	broad.mit.edu	37	1	22973864	22973864	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:22973864G>T	ENST00000374639.3	+	3	444	c.326G>T	c.(325-327)gGt>gTt	p.G109V	C1QC_ENST00000374640.4_Missense_Mutation_p.G109V|C1QC_ENST00000374637.1_Missense_Mutation_p.G109V	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	109	Collagen-like.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		p.G109V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGAGAGCCAGGTGAGGAGGGC	0.632000													7	28					0.0381472	0.0396061	0.038147	1	0
C17orf58	284018	broad.mit.edu	37	17	65989093	65989093	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:65989093G>T	ENST00000536693.1	-	1	575	c.170C>A	c.(169-171)aCa>aAa	p.T57K	C17orf58_ENST00000449250.2_Intron|C17orf58_ENST00000334461.7_Missense_Mutation_p.T57K			Q2M2W7	CQ058_HUMAN	chromosome 17 open reading frame 58	0								p.T57K(1)		lung(2)	2	all_cancers(12;4.57e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGCCCGGGCTGTGGCACCCAC	0.483000													7	31					0.00198382	0.00218175	0.029380	1	0
LTBP1	4052	broad.mit.edu	37	2	33500076	33500076	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:33500076C>A	ENST00000404816.2	+	17	3141	c.2788C>A	c.(2788-2790)Cgc>Agc	p.R930S	LTBP1_ENST00000407925.1_Missense_Mutation_p.R604S|LTBP1_ENST00000354476.3_Missense_Mutation_p.R931S|LTBP1_ENST00000418533.2_Missense_Mutation_p.R604S|LTBP1_ENST00000404525.1_Missense_Mutation_p.R551S|LTBP1_ENST00000390003.4_Missense_Mutation_p.R605S|LTBP1_ENST00000402934.1_Missense_Mutation_p.R551S			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	930	EGF-like 5; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.R931S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTCCCAGGGCCGCTGTGAAAA	0.433000													14	61					1.49906e-05	1.90766e-05	0.119110	1	0
DNAH12	201625	broad.mit.edu	37	3	57487120	57487120	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:57487120G>A	ENST00000351747.2	-	11	1443	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	DNAH12_ENST00000311202.6_Silent_p.L421L|DNAH12_ENST00000389536.4_Silent_p.L421L	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	421	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L422F(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCCCATCAAGGAGCCAATTAT	0.279000													6	39					0	0	0.217242	0	0
MX2	4600	broad.mit.edu	37	21	42778787	42778787	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr21:42778787G>A	ENST00000330714.3	+	13	1951	c.1767G>A	c.(1765-1767)ctG>ctA	p.L589L		NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	589					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	p.L589L(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GTGTTGTTCTGAAGAAAGTCC	0.403000													8	56					0	0	0.058154	0	0
OR5A1	219982	broad.mit.edu	37	11	59210995	59210995	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:59210995G>T	ENST00000302030.2	+	1	379	c.354G>T	c.(352-354)ctG>ctT	p.L118L		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L118L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GCCTCCTCCTGACTGCTATGG	0.532000													36	141					4.14481e-20	7.73065e-20	0.235728	1	0
DNAH11	8701	broad.mit.edu	37	7	21639422	21639422	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:21639422C>T	ENST00000328843.6	+	15	2716	c.2685C>T	c.(2683-2685)ttC>ttT	p.F895F	DNAH11_ENST00000409508.3_Silent_p.F895F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	895	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.F895F(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGAAGCTCTTCAAAGCCAATC	0.338000									Kartagener syndrome				5	17					0	0	0.184627	0	0
SPEG	10290	broad.mit.edu	37	2	220354645	220354645	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:220354645C>A	ENST00000312358.7	+	36	9037	c.8905C>A	c.(8905-8907)Ctg>Atg	p.L2969M	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2969	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.L2969M(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTACACCTTCCTGGAGGAGAA	0.612000													8	17					0.000673444	0.000759438	0.069234	1	0
DMRT2	10655	broad.mit.edu	37	9	1056563	1056563	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:1056563G>A	ENST00000382251.3	+	5	1305	c.976G>A	c.(976-978)Gtc>Atc	p.V326I	DMRT2_ENST00000358146.2_Missense_Mutation_p.V326I|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.V326I			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	326					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.V326I(1)		large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TTCTTCTAATGTCAGCGTGGC	0.458000													15	42					0	0	0.132662	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077513	57077513	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:57077513C>A	ENST00000532437.1	-	5	2983	c.2672G>T	c.(2671-2673)aGa>aTa	p.R891I	TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R891I			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	891	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.R891I(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CAGAGAATCTCTCTTCCCAAA	0.537000													16	115					5.3912e-06	7.1267e-06	0.175082	1	0
RIPK1	8737	broad.mit.edu	37	6	3105950	3105950	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:3105950G>T	ENST00000259808.4	+	9	1539	c.1241G>T	c.(1240-1242)aGg>aTg	p.R414M	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Missense_Mutation_p.R414M|RIPK1_ENST00000541791.1_Missense_Mutation_p.R368M			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	414	Interaction with SQSTM1.|Poly-Arg.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	p.R414M(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				AGGAGACGCAGGGTCTCCCAT	0.498000													13	26					0.00010058	0.000121558	0.093190	1	0
EPHA5	2044	broad.mit.edu	37	4	66270133	66270133	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:66270133G>T	ENST00000273854.3	-	8	2349	c.1749C>A	c.(1747-1749)gtC>gtA	p.V583V	EPHA5_ENST00000432638.2_Silent_p.V420V|EPHA5_ENST00000354839.4_Silent_p.V583V|EPHA5_ENST00000511294.1_Silent_p.V584V	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	583					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.V583V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCAACAAAATGACTCCCACTG	0.473000										TSP Lung(17;0.13)			10	45					0.000673444	0.000759438	0.069234	1	0
CPNE4	131034	broad.mit.edu	37	3	131624169	131624169	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:131624169G>C	ENST00000512055.1	-	6	2245	c.119C>G	c.(118-120)gCc>gGc	p.A40G	CPNE4_ENST00000429747.1_Missense_Mutation_p.A40G|CPNE4_ENST00000511604.1_Missense_Mutation_p.A40G|CPNE4_ENST00000512332.1_Missense_Mutation_p.A58G|CPNE4_ENST00000502818.1_Missense_Mutation_p.A58G			Q96A23	CPNE4_HUMAN	copine IV	40	C2 1.							p.A40G(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TTTGGAAAGGGCATCTCTGTC	0.512000													8	64					0	0	0.047766	0	0
CNTRL	11064	broad.mit.edu	37	9	123877466	123877466	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:123877466A>T	ENST00000373855.1	+	11	1703	c.1443A>T	c.(1441-1443)atA>atT	p.I481I	CNTRL_ENST00000238341.5_Silent_p.I481I|CNTRL_ENST00000373865.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	481					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	p.I481I(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAGAAGCTATACAACTAAAAA	0.318000													6	41					0	0	0.217242	0	0
TTN	7273	broad.mit.edu	37	2	179412653	179412653	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:179412653T>A	ENST00000589042.1	-	339	93924	c.93700A>T	c.(93700-93702)Acc>Tcc	p.T31234S	TTN_ENST00000342992.6_Missense_Mutation_p.T28666S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T29593S|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T22361S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T22294S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T22169S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29593	Fibronectin type-III 127.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T28666S(1)|p.T22169S(1)|p.T22294S(1)|p.T22361S(1)|p.T28664S(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)			ACGTCAATGGTAAATGGGCTT	0.448000													3	23					0	0	0.115264	0	0
APOL3	80833	broad.mit.edu	37	22	36556806	36556806	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:36556806C>T	ENST00000349314.2	-	1	171	c.134G>A	c.(133-135)gGt>gAt	p.G45D	APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000397293.2_5'UTR|APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000361710.2_5'UTR	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	45					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity	p.G45D(1)		endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TGCATAATAACCAGACACGTT	0.488000													8	40					0	0	0.047766	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799225	57799225	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:57799225G>T	ENST00000302622.3	+	1	824	c.801G>T	c.(799-801)aaG>aaT	p.K267N	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K267N(1)		biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TCCAGACCAAGGTGACCTCCT	0.498000													12	85					2.27111e-07	3.22934e-07	0.093190	1	0
NEUROD4	58158	broad.mit.edu	37	12	55421034	55421034	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:55421034C>A	ENST00000242994.3	+	2	1189	c.811C>A	c.(811-813)Cct>Act	p.P271T		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	271					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P271T(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AGATGGGTCTCCTGACCTAGA	0.532000													25	100					2.41591e-17	4.36711e-17	0.099896	1	0
UGT2B11	10720	broad.mit.edu	37	4	70071213	70071213	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:70071213G>T	ENST00000446444.1	-	4	1083	c.1075C>A	c.(1075-1077)Cag>Aag	p.Q359K	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	359					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.Q359K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGTCATTCTGGGGTATCCAC	0.373000													8	69					0.00307968	0.00335674	0.038147	1	0
MYO9B	4650	broad.mit.edu	37	19	17265191	17265191	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:17265191G>A	ENST00000595618.1	+	6	1317	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	MYO9B_ENST00000397274.2_Missense_Mutation_p.E389K|CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000594824.1_Missense_Mutation_p.E389K|CTD-3032J10.2_ENST00000599360.1_RNA	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	389	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	p.E389K(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCAGGCCATGGAGATGGTGGG	0.582000													13	32					0	0	0.093190	0	0
TMEM132E	124842	broad.mit.edu	37	17	32954040	32954040	+	Missense_Mutation	SNP	C	C	G	rs150343983	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:32954040C>G	ENST00000321639.5	+	3	1020	c.692C>G	c.(691-693)tCg>tGg	p.S231W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	231						integral to membrane		p.S231W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		AACTCCTCCTCGCCCTCCAGC	0.597000													7	44					0	0	0.038147	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331834	100331834	+	RNA	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:100331834C>T	ENST00000341853.1	-	0	2357					NR_003260.1													p.S29S(1)									ACCTGGAGAGCTGGGAGGCCA	0.607000													26	25					0	0	0.099896	0	0
GAK	2580	broad.mit.edu	37	4	844769	844769	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:844769C>A	ENST00000314167.4	-	26	3722	c.3612G>T	c.(3610-3612)atG>atT	p.M1204I	GAK_ENST00000511163.1_Missense_Mutation_p.M1125I|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1204					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.M1204I(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CCTGCTTCCTCATCTCTGCAA	0.542000													24	73					1.85244e-09	2.87983e-09	0.083992	1	0
CYP4F2	8529	broad.mit.edu	37	19	16008286	16008286	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:16008286G>C	ENST00000221700.5	-	2	231	c.136C>G	c.(136-138)Cgc>Ggc	p.R46G	CYP4F2_ENST00000011989.7_5'UTR|CYP4F2_ENST00000592328.1_Missense_Mutation_p.R46G	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	46					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.R46G(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGAAGGCGGCGGCAGTTGTCA	0.632000													9	41					0	0	0.093190	0	0
THSD7B	80731	broad.mit.edu	37	2	138400070	138400070	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:138400070G>T	ENST00000409968.1	+	21	3990	c.3812G>T	c.(3811-3813)cGg>cTg	p.R1271L	THSD7B_ENST00000413152.2_Missense_Mutation_p.R1243L|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1274L|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B									p.R1274L(1)|p.R1243L(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGAATGAGCCGGACTCGATTT	0.493000													11	69					5.50884e-06	7.22357e-06	0.093190	1	0
OR8H2	390151	broad.mit.edu	37	11	55872935	55872935	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:55872935G>C	ENST00000313503.1	+	1	417	c.417G>C	c.(415-417)agG>agC	p.R139S		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R139S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGTCCAAAAGGCTCTGCCTCG	0.468000										HNSCC(53;0.14)			6	191					0	0	0.058154	0	0
OR2T27	403239	broad.mit.edu	37	1	248814155	248814155	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248814155C>A	ENST00000344889.3	-	1	30	c.31G>T	c.(31-33)Gac>Tac	p.D11Y		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D11Y(2)|p.D11N(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGATAAAGTCGGCATACACG	0.443000													3	28					0.115264	0.118414	0.115264	1	0
FAM26E	254228	broad.mit.edu	37	6	116837003	116837003	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:116837003G>T	ENST00000368599.3	+	2	832	c.781G>T	c.(781-783)Gcc>Tcc	p.A261S	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	261						integral to membrane		p.A261S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TACGTTTGCTGCCTGGGAGGC	0.483000													9	40					0.000274275	0.000320388	0.047766	1	0
TRPC1	7220	broad.mit.edu	37	3	142499758	142499758	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:142499758G>T	ENST00000273482.6	+	5	1136	c.745G>T	c.(745-747)Gaa>Taa	p.E249*	TRPC1_ENST00000476941.1_Nonsense_Mutation_p.E283*	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	283					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.E249*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TCGTGAATTGGAAGTTATTCT	0.373000													5	70					1.23904e-05	1.58364e-05	0.184627	1	0
FBXO33	254170	broad.mit.edu	37	14	39870665	39870665	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:39870665G>T	ENST00000298097.7	-	3	1448	c.1111C>A	c.(1111-1113)Cgg>Agg	p.R371R	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	371								p.R371R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		ATATAGACCCGAAAGCTGGTG	0.398000													11	44					7.03913e-09	1.06605e-08	0.093190	1	0
USP29	57663	broad.mit.edu	37	19	57640629	57640629	+	Nonsense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:57640629A>T	ENST00000254181.4	+	4	1040	c.586A>T	c.(586-588)Aag>Tag	p.K196*	USP29_ENST00000598197.1_Nonsense_Mutation_p.K196*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	196					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.K196E(1)|p.K196*(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAAGAAATATAAGACAGATTC	0.363000													44	30					0	0	0.139131	0	0
OR4C13	283092	broad.mit.edu	37	11	49974659	49974659	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:49974659G>C	ENST00000555099.1	+	1	717	c.685G>C	c.(685-687)Gag>Cag	p.E229Q		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E229Q(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CCACAGCTTAGAGGCAAGGCA	0.483000													25	90					0	0	0.091800	0	0
TRAK2	66008	broad.mit.edu	37	2	202245493	202245493	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:202245493T>A	ENST00000332624.3	-	16	2946	c.2518A>T	c.(2518-2520)Aga>Tga	p.R840*		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	840				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding	p.R840*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						ATCCCCAGTCTCTTCAGCCTG	0.512000													14	57					0	0	0.119110	0	0
KCMF1	56888	broad.mit.edu	37	2	85276557	85276557	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:85276557G>A	ENST00000409785.3	+	6	1029	c.670G>A	c.(670-672)Gct>Act	p.A224T		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	224						intracellular	ligase activity|zinc ion binding	p.A224T(2)		ovary(3)	3						TGGCCCTTCCGCTTCTCAGTT	0.527000													7	56					0	0	0.038147	0	0
OSTN	344901	broad.mit.edu	37	3	190930383	190930383	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:190930383G>T	ENST00000445281.1	+	2	129	c.62G>T	c.(61-63)aGc>aTc	p.S21I	OSTN_ENST00000339051.1_Missense_Mutation_p.S21I			P61366	OSTN_HUMAN	osteocrin	21					cell differentiation|multicellular organismal development|ossification		hormone activity	p.S21I(1)		kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		ACACTGTGGAGCTCAGGAAAA	0.388000													11	11					9.31168e-06	1.21449e-05	0.105934	1	0
LOXL3	84695	broad.mit.edu	37	2	74764011	74764011	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:74764011A>T	ENST00000264094.3	-	5	808	c.737T>A	c.(736-738)gTg>gAg	p.V246E	LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409249.1_Missense_Mutation_p.V246E|LOXL3_ENST00000409549.1_Missense_Mutation_p.V246E	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	246	SRCR 2.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	p.V246E(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CACGCACGCCACCCCATGCAG	0.637000													6	39					0	0	0.029380	0	0
TTN	7273	broad.mit.edu	37	2	179443726	179443726	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:179443726G>T	ENST00000589042.1	-	320	68255	c.68031C>A	c.(68029-68031)acC>acA	p.T22677T	TTN_ENST00000342992.6_Silent_p.T20109T|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T21036T|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.T13804T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.T13737T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.T13612T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21036							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T13737T(1)|p.T13804T(1)|p.T20109T(1)|p.T13612T(1)|p.T20107T(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)			GGATATAGTTGGTGATTTCAG	0.478000													5	38					0.000602214	0.000684377	0.184627	1	0
WNT10B	7480	broad.mit.edu	37	12	49360250	49360250	+	Silent	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:49360250T>A	ENST00000301061.4	-	5	1146	c.798A>T	c.(796-798)ccA>ccT	p.P266P	WNT10B_ENST00000403957.1_3'UTR|WNT10B_ENST00000407467.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	266					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	p.P266P(1)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CCCGGAACTCTGGGGCCGCCC	0.607000													3	34					0	0	0.150653	0	0
GPRC5B	51704	broad.mit.edu	37	16	19873269	19873269	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:19873269C>T	ENST00000300571.2	-	3	1248	c.1057G>A	c.(1057-1059)Ggc>Agc	p.G353S	GPRC5B_ENST00000535671.1_Missense_Mutation_p.G353S|GPRC5B_ENST00000569479.1_Missense_Mutation_p.G353S|GPRC5B_ENST00000569847.1_Missense_Mutation_p.G353S|GPRC5B_ENST00000537135.1_Missense_Mutation_p.G379S	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	353								p.G353S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCCAAGCTGCCGTTGGGAAAT	0.512000													5	30					0	0	0.217242	0	0
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338000													5	48					0	0	0.047766	0	0
SFT2D2	375035	broad.mit.edu	37	1	168206008	168206008	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:168206008G>T	ENST00000271375.3	+	6	485	c.413_splice	c.e6+1	p.W138_splice	SFT2D2_ENST00000367829.1_3'UTR|SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367825.3_3'UTR	NM_199344.2	NP_955376.1	O95562	SFT2B_HUMAN	SFT2 domain containing 2	138					protein transport|vesicle-mediated transport	integral to membrane		p.W138L(1)		lung(3)|skin(1)	4	all_hematologic(923;0.215)					GCATTGACGTGGTAAGTAACC	0.393000													48	152					3.76525e-18	6.90845e-18	0.139131	1	0
CFHR4	10877	broad.mit.edu	37	1	196881879	196881879	+	Nonsense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:196881879C>G	ENST00000367416.2	+	7	1141	c.1004C>G	c.(1003-1005)tCa>tGa	p.S335*	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Nonsense_Mutation_p.S89*|CFHR4_ENST00000251424.4_Nonsense_Mutation_p.S89*	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4									p.S335*(1)|p.S89*(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GGAACATGCTCAAAATCAGAT	0.254000													3	30					0	0	0.150653	0	0
USPL1	10208	broad.mit.edu	37	13	31221131	31221131	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr13:31221131C>G	ENST00000255304.4	+	7	1517	c.1175C>G	c.(1174-1176)gCc>gGc	p.A392G		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	392					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.A392G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CTTAATGCTGCCCATTTTGGT	0.308000													17	32					0	0	0.175082	0	0
USH2A	7399	broad.mit.edu	37	1	215956147	215956147	+	Silent	SNP	C	C	T	rs114719960	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:215956147C>T	ENST00000366943.2	-	53	10904	c.10518G>A	c.(10516-10518)acG>acA	p.T3506T	USH2A_ENST00000307340.3_Silent_p.T3506T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3506	Fibronectin type-III 20.				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.T3506T(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)		TTTTGGTCCACGTAGGGGGAC	0.403000										HNSCC(13;0.011)			10	58					0	0	0.069234	0	0
KCNA10	3744	broad.mit.edu	37	1	111059903	111059903	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:111059903C>A	ENST00000369771.2	-	1	1894	c.1507G>T	c.(1507-1509)Ggc>Tgc	p.G503C		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	503						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.G503C(1)|p.G503I(1)|p.G503S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GTGGAACAGCCACCATTGGTC	0.468000													7	41					0.000157383	0.000187733	0.038147	1	0
MBIP	51562	broad.mit.edu	37	14	36789785	36789785	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:36789785C>A	ENST00000416007.4	-	1	97	c.10G>T	c.(10-12)Gcc>Tcc	p.A4S	MBIP_ENST00000318473.7_Missense_Mutation_p.A4S|MBIP_ENST00000359527.7_Missense_Mutation_p.A4S	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	4					histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	p.A4S(1)		breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		AGCTCCGTGGCAGCAGCCATG	0.592000													4	26					5.18039e-06	6.86659e-06	0.038147	1	0
RGS6	9628	broad.mit.edu	37	14	72939587	72939587	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:72939587C>A	ENST00000553530.1	+	9	751	c.544C>A	c.(544-546)Cgg>Agg	p.R182R	RGS6_ENST00000406236.4_Silent_p.R182R|RGS6_ENST00000553525.1_Silent_p.R182R|RGS6_ENST00000355512.6_Silent_p.R182R|RGS6_ENST00000407322.4_Silent_p.R182R|RGS6_ENST00000402788.2_Silent_p.R182R|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000343854.6_Silent_p.R182R|RGS6_ENST00000555571.1_Silent_p.R182R|RGS6_ENST00000556437.1_Silent_p.R182R|RGS6_ENST00000434263.2_Silent_p.R113R|RGS6_ENST00000404301.2_Silent_p.R182R|RGS6_ENST00000554782.1_Silent_p.R43R	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	182					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	p.R182R(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAGGATTGACCGGAAAAAAGA	0.448000													11	106					5.50884e-06	7.22357e-06	0.093190	1	0
PPP1R9A	55607	broad.mit.edu	37	7	94915575	94915575	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:94915575G>T	ENST00000289495.5	+	16	3649	c.3433G>T	c.(3433-3435)Ggc>Tgc	p.G1145C	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.G1163C|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.G939C|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G1223C|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G939C|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.G1163C	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	939						cell junction|synapse|synaptosome	actin binding	p.G1163C(1)|p.G1223C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGACCTCAGCGGCTTAGGAGC	0.443000										HNSCC(28;0.073)			17	47					5.01169e-05	6.2106e-05	0.160694	1	0
PDE3A	5139	broad.mit.edu	37	12	20806975	20806975	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:20806975A>G	ENST00000359062.3	+	15	3060	c.3020A>G	c.(3019-3021)cAc>cGc	p.H1007R	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1007	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.H1007R(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TTCATCTCTCACATTGTGGGG	0.507000													7	37					0	0	0.029380	0	0
NRG1	3084	broad.mit.edu	37	8	32585597	32585597	+	Splice_Site	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:32585597G>A	ENST00000341377.5	+	6	1149		c.e6+1		NRG1_ENST00000405005.2_Splice_Site|NRG1_ENST00000520407.1_Splice_Site|NRG1_ENST00000356819.4_Splice_Site|NRG1_ENST00000523079.1_Splice_Site|NRG1_ENST00000521670.1_Splice_Site|NRG1_ENST00000539990.1_Splice_Site|NRG1_ENST00000287845.5_Splice_Site|NRG1_ENST00000520502.2_Splice_Site|NRG1_ENST00000287842.3_Splice_Site|NRG1_ENST00000519301.1_Splice_Site|NRG1_ENST00000338921.4_Splice_Site|NRG1_ENST00000287840.5_Splice_Site			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.?(4)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACTTGTGCAAGTAAGAAAAGA	0.388000													12	39					0	0	0.080935	0	0
DUSP27	92235	broad.mit.edu	37	1	167095342	167095342	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:167095342G>C	ENST00000361200.2	+	6	1140	c.974G>C	c.(973-975)aGt>aCt	p.S325T	DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Missense_Mutation_p.S325T|DUSP27_ENST00000271385.5_Missense_Mutation_p.S325T			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	325					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.S325T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCCACCTGAGTGGCTCCTCC	0.657000													3	1					0	0	0.150653	0	0
MARCH10	162333	broad.mit.edu	37	17	60814126	60814126	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:60814126G>T	ENST00000544856.2	-	7	1478	c.1100C>A	c.(1099-1101)tCt>tAt	p.S367Y	MARCH10_ENST00000583600.1_Missense_Mutation_p.S406Y|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.S368Y|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.S368Y			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	368							ligase activity|zinc ion binding	p.S368Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TTGCCCAGCAGAAGGCCGCTC	0.502000													26	93					1.77063e-15	3.13118e-15	0.108266	1	0
IMP4	92856	broad.mit.edu	37	2	131102277	131102277	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:131102277G>T	ENST00000259239.3	+	3	896	c.188G>T	c.(187-189)gGa>gTa	p.G63V	IMP4_ENST00000409935.1_Missense_Mutation_p.G63V	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)	63					rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding	p.G63V(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					GATGATGCTGGAGGTGAAGGT	0.567000													10	20					3.86212e-05	4.79819e-05	0.069234	1	0
CARD11	84433	broad.mit.edu	37	7	2984049	2984049	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:2984049C>A	ENST00000396946.4	-	5	884	c.481G>T	c.(481-483)Gat>Tat	p.D161Y	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	161					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.D154Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTCTTCTCATCCTCCAGCTGC	0.577000			Mis		DLBCL								10	98					4.3838e-07	6.16761e-07	0.105934	1	0
MUC7	4589	broad.mit.edu	37	4	71346954	71346954	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:71346954A>G	ENST00000413702.1	+	4	781	c.493A>G	c.(493-495)Acc>Gcc	p.T165A	MUC7_ENST00000304887.5_Missense_Mutation_p.T165A|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.T165A	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	165	Thr-rich.					extracellular region	protein binding	p.T165A(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCCACAAGACACCACAGCTGC	0.527000													19	61					0	0	0.204396	0	0
CCDC33	80125	broad.mit.edu	37	15	74623568	74623568	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:74623568C>T	ENST00000321288.5	+	17	2311	c.2311C>T	c.(2311-2313)Ctg>Ttg	p.L771L	CCDC33_ENST00000268082.4_Silent_p.L161L|CCDC33_ENST00000558821.1_Silent_p.L161L|CCDC33_ENST00000398814.3_Silent_p.L568L			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	771							protein binding	p.L568L(2)|p.L161L(2)|p.L771L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGAGCGGGTGCTGGAGGACAG	0.647000													4	17					0	0	0.217242	0	0
TAS1R3	83756	broad.mit.edu	37	1	1268367	1268367	+	Nonsense_Mutation	SNP	G	G	T	rs143311630	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:1268367G>T	ENST00000339381.5	+	4	1374	c.1342G>T	c.(1342-1344)Gga>Tga	p.G448*		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	448					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.G448*(1)		kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	CGACAGCAGCGGAAACGTGGA	0.662000													5	21					0.000602214	0.000684377	0.184627	1	0
NLGN2	57555	broad.mit.edu	37	17	7317710	7317710	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:7317710G>T	ENST00000302926.2	+	3	629	c.556G>T	c.(556-558)Ggc>Tgc	p.G186C	NLGN2_ENST00000575301.1_Missense_Mutation_p.G186C	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	186					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	p.G186C(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TCTCCATGGCGGCTCCTACAT	0.597000													6	23					0.000157383	0.000187733	0.038147	1	0
TRIM51HP	440041	broad.mit.edu	37	11	55063043	55063043	+	RNA	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:55063043G>C	ENST00000526016.1	-	0	594					NR_038174.2																						TCATTGAGTTGCTGAAAAATG	0.423000													4	18					0	0	0.184627	0	0
TNPO1	3842	broad.mit.edu	37	5	72171445	72171445	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:72171445C>G	ENST00000337273.5	+	8	1108	c.682C>G	c.(682-684)Ctc>Gtc	p.L228V	TNPO1_ENST00000506351.2_Missense_Mutation_p.L220V|TNPO1_ENST00000523768.1_Missense_Mutation_p.L178V|TNPO1_ENST00000454282.1_Missense_Mutation_p.L178V|TNPO1_ENST00000447967.2_3'UTR	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	228					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	p.L220V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GCAACAGAATCTCTTTGCATT	0.393000													6	44					0	0	0.217242	0	0
RIF1	55183	broad.mit.edu	37	2	152293374	152293374	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:152293374C>T	ENST00000243326.4	+	11	1712	c.1229C>T	c.(1228-1230)cCc>cTc	p.P410L	RIF1_ENST00000444746.2_Missense_Mutation_p.P410L|RIF1_ENST00000433166.2_Missense_Mutation_p.P340S|RIF1_ENST00000428287.2_Missense_Mutation_p.P410L|RIF1_ENST00000453091.2_Missense_Mutation_p.P410L|RIF1_ENST00000430328.2_Missense_Mutation_p.P410L			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	410					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.P410L(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CCGGGAACTCCCCGAATGAAC	0.418000													6	36					0	0	0.029380	0	0
FLT1	2321	broad.mit.edu	37	13	28893581	28893581	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr13:28893581G>A	ENST00000282397.4	-	24	3516	c.3265C>T	c.(3265-3267)Ctg>Ttg	p.L1089L	FLT1_ENST00000543394.1_Silent_p.L112L|FLT1_ENST00000540678.1_Silent_p.L307L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1089	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.L1089L(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ATTTCCCACAGCAATACTCCG	0.433000													4	7					0	0	0.150653	0	0
DNAJC10	54431	broad.mit.edu	37	2	183622484	183622484	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:183622484G>A	ENST00000264065.6	+	19	2290	c.1875G>A	c.(1873-1875)caG>caA	p.Q625Q		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	625	Thioredoxin 3.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	p.Q625Q(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTTGTGCCCAGGAAAACGTTC	0.333000													12	37					0	0	0.080935	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826486	43826486	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:43826486C>A	ENST00000389420.3	-	20	2848	c.2849G>T	c.(2848-2850)gGt>gTt	p.G950V	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G950V|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.G104V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	950	TSP type-1 3.					proteinaceous extracellular matrix	zinc ion binding	p.G950V(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AAGCTGGTCACCACAGTAGTG	0.413000													9	56					1.58986e-06	2.1641e-06	0.069234	1	0
PCDH10	57575	broad.mit.edu	37	4	134072090	134072090	+	Silent	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:134072090A>C	ENST00000264360.4	+	1	1621	c.795A>C	c.(793-795)ccA>ccC	p.P265P		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	265	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P265P(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACTCTCCCCCAGGCACTCTCG	0.627000													9	45					0	0	0.047766	0	0
MYEF2	50804	broad.mit.edu	37	15	48441490	48441490	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:48441490C>T	ENST00000324324.7	-	15	1736	c.1457G>A	c.(1456-1458)aGa>aAa	p.R486K	MYEF2_ENST00000267836.6_Missense_Mutation_p.R462K	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	486	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	p.R486K(1)		endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TGGTCCCATTCTATCAAAGCT	0.493000													23	42					0	0	0.091800	0	0
OR6K3	391114	broad.mit.edu	37	1	158687240	158687240	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158687240A>T	ENST00000368146.1	-	1	713	c.714T>A	c.(712-714)acT>acA	p.T238T	OR6K3_ENST00000368145.1_Silent_p.T222T			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T238T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TCAATATCACAGTGACAATTC	0.448000													16	42					0	0	0.132662	0	0
EPX	8288	broad.mit.edu	37	17	56271329	56271329	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:56271329G>T	ENST00000225371.5	+	5	580	c.470G>T	c.(469-471)aGa>aTa	p.R157I		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	157					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.R157I(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TGCAGGAGGAGACCCTTGCTA	0.677000													7	32					2.0095e-06	2.71264e-06	0.029380	1	0
NUP133	55746	broad.mit.edu	37	1	229613447	229613447	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:229613447C>T	ENST00000261396.3	-	13	1744	c.1653G>A	c.(1651-1653)ttG>ttA	p.L551L	NUP133_ENST00000366679.1_Silent_p.L551L|NUP133_ENST00000537506.1_Silent_p.L535L	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	551					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	p.L551L(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AATCAGAATCCAAATCAGAGT	0.443000													4	34					0	0	0.150653	0	0
PKD2L1	9033	broad.mit.edu	37	10	102055997	102055997	+	Missense_Mutation	SNP	C	C	T	rs145997401	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:102055997C>T	ENST00000318222.3	-	7	1620	c.1238G>A	c.(1237-1239)cGg>cAg	p.R413Q	PKD2L1_ENST00000353274.3_Missense_Mutation_p.R413Q|PKD2L1_ENST00000338519.3_Missense_Mutation_p.R338Q	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	413					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	p.R413Q(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCCCATGAGCCGATTCACCTC	0.542000													10	31					0	0	0.058154	0	0
KRT34	3885	broad.mit.edu	37	17	39535402	39535402	+	Silent	SNP	C	C	T	rs148874673	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:39535402C>T	ENST00000394001.1	-	6	1059	c.1029G>A	c.(1027-1029)acG>acA	p.T343T		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	343	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity	p.T343T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CCTCGCTCTCCGTCAGCGTGT	0.572000													4	42					0	0	0.150653	0	0
SMC6	79677	broad.mit.edu	37	2	17897437	17897437	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:17897437C>A	ENST00000448223.2	-	15	1710	c.1441G>T	c.(1441-1443)Ggc>Tgc	p.G481C	SMC6_ENST00000381272.4_Missense_Mutation_p.G507C|SMC6_ENST00000402989.1_Missense_Mutation_p.G481C|SMC6_ENST00000351948.4_Missense_Mutation_p.G481C	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	481	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	p.G481C(1)		NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACATTAGGGCCAAATCTTTTG	0.368000													21	82					2.39556e-15	4.22611e-15	0.076483	1	0
SCN4A	6329	broad.mit.edu	37	17	62022892	62022892	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:62022892G>A	ENST00000435607.1	-	19	3624	c.3548C>T	c.(3547-3549)gCc>gTc	p.A1183V	SCN4A_ENST00000578147.1_Missense_Mutation_p.A1183V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1183					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A1183V(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GAACTTGCCGGCAAACAGGTT	0.542000													4	183					0	0	0.150653	0	0
SLC39A12	221074	broad.mit.edu	37	10	18270328	18270328	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:18270328C>A	ENST00000377369.2	+	6	1285	c.1012C>A	c.(1012-1014)Cca>Aca	p.P338T	SLC39A12_ENST00000377374.4_Missense_Mutation_p.P338T|SLC39A12_ENST00000377371.3_Missense_Mutation_p.P338T|SLC39A12_ENST00000539911.1_Missense_Mutation_p.P204T	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	338					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.P338T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GCAAATGAGTCCAGGGATCAT	0.502000													15	34					3.27435e-08	4.83404e-08	0.119110	1	0
ADCY1	107	broad.mit.edu	37	7	45743059	45743059	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:45743059C>T	ENST00000297323.7	+	15	2561	c.2539C>T	c.(2539-2541)Cag>Tag	p.Q847*		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	847					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.Q847*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CCACGTCGCCCAGCACTTCCT	0.622000													4	20					0	0	0.217242	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181690	128181690	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:128181690G>A	ENST00000469083.1	-	2	2956	c.399C>T	c.(397-399)gcC>gcT	p.A133A	DNAJB8_ENST00000319153.3_Silent_p.A133A			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	133					protein folding		heat shock protein binding|unfolded protein binding	p.A133A(1)		kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CTGCCGAGAAGGCCCCCCTCA	0.597000													4	29					0	0	0.184627	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54871258	54871258	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:54871258G>T	ENST00000474759.1	+	15	1518		c.e15+1		CACNA2D3_ENST00000490478.1_Splice_Site|CACNA2D3_ENST00000415676.2_Splice_Site|CACNA2D3_ENST00000288197.5_Splice_Site	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3							integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.?(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GAACGAAACCGTGAGTACAGT	0.507000													19	79					3.62473e-10	5.75093e-10	0.234183	1	0
LMTK3	114783	broad.mit.edu	37	19	49013301	49013301	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:49013301C>T	ENST00000600059.1	-	3	567	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	LMTK3_ENST00000270238.3_Missense_Mutation_p.A143T					lemur tyrosine kinase 3									p.A143T(1)|p.A129T(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGCTGCGGGGCAGGCATTGGC	0.622000													6	10					0	0	0.029380	0	0
FOLH1B	219595	broad.mit.edu	37	11	89420534	89420534	+	RNA	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:89420534G>T	ENST00000532352.1	+	0	1349							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.G179V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CCTGATGAAGGCTTTGAAGGC	0.343000													5	35					0.000602214	0.000684377	0.184627	1	0
KDR	3791	broad.mit.edu	37	4	55971037	55971037	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:55971037C>A	ENST00000263923.4	-	13	2055	c.1760G>T	c.(1759-1761)gGc>gTc	p.G587V		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	587	Ig-like C2-type 6.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.G587V(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGGCTGTGGGCCAAGCTTGTA	0.498000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			7	41					5.18039e-06	6.86659e-06	0.038147	1	0
ZKSCAN2	342357	broad.mit.edu	37	16	25255428	25255428	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:25255428C>A	ENST00000328086.7	-	6	2462	c.1659G>T	c.(1657-1659)aaG>aaT	p.K553N		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	553					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K553N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GGCTTTTGAACTTGGTTCGGC	0.527000													15	73					6.72482e-11	1.09055e-10	0.132662	1	0
LINGO1	84894	broad.mit.edu	37	15	77906791	77906791	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:77906791G>A	ENST00000355300.6	-	2	1632	c.1458C>T	c.(1456-1458)taC>taT	p.Y486Y	LINGO1_ENST00000561030.1_Silent_p.Y480Y	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	486	Ig-like C2-type.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		p.Y480Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GTACCTGGGCGTAGCGCACCT	0.667000													11	22					0	0	0.080935	0	0
OR10T2	128360	broad.mit.edu	37	1	158368428	158368428	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158368428T>C	ENST00000334438.1	-	1	828	c.829A>G	c.(829-831)Acc>Gcc	p.T277A		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T277A(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					ACTGTGTAGGTCACTGCCACC	0.473000													7	28					0	0	0.038147	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746810	77746810	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:77746810C>A	ENST00000409088.3	-	3	599	c.185G>T	c.(184-186)gGg>gTg	p.G62V	LRRTM4_ENST00000409093.1_Missense_Mutation_p.G62V|LRRTM4_ENST00000409911.1_Missense_Mutation_p.G63V|LRRTM4_ENST00000409884.1_Missense_Mutation_p.G62V|LRRTM4_ENST00000409282.1_Missense_Mutation_p.G63V	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	62						integral to membrane		p.G62V(2)|p.G62A(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCCTTGTGACCCTCCAGAAAT	0.438000													7	52					8.12818e-05	9.85601e-05	0.029380	1	0
ZNF416	55659	broad.mit.edu	37	19	58087211	58087211	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:58087211C>G	ENST00000196489.3	-	3	385	c.163G>C	c.(163-165)Gat>Cat	p.D55H		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D55N(1)|p.D55H(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AGCATCACATCGCGGTACAGG	0.547000													29	49					0	0	0.116897	0	0
PKP2	5318	broad.mit.edu	37	12	32977015	32977015	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:32977015G>A	ENST00000340811.4	-	7	1746	c.1638C>T	c.(1636-1638)gtC>gtT	p.V546V	PKP2_ENST00000070846.6_Silent_p.V590V	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	590					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.V590V(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)					TGGTTCCTCTGACATAATGGA	0.388000													5	42					0	0	0.029380	0	0
AC010731.4	0	broad.mit.edu	37	2	207508998	207508998	+	RNA	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:207508998C>T	ENST00000543490.1	+	0	213																											ATCCACCGCCCCTTGAGCTTC	0.522000													4	15					0	0	0.150653	0	0
CPED1	79974	broad.mit.edu	37	7	120876855	120876855	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:120876855C>G	ENST00000310396.5	+	17	2610	c.2143C>G	c.(2143-2145)Cta>Gta	p.L715V	CPED1_ENST00000450913.2_Missense_Mutation_p.L715V|CPED1_ENST00000423795.1_Missense_Mutation_p.L495V	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.L715V(1)									ACAGTCTGAACTAAAAAGATG	0.353000													11	50					0	0	0.080935	0	0
OR2M5	127059	broad.mit.edu	37	1	248309381	248309381	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248309381G>T	ENST00000366476.1	+	1	932	c.932G>T	c.(931-933)gGa>gTa	p.G311V		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G311V(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GGCAAGTGTGGAGAGTGAGTA	0.428000													6	40					0.00116845	0.0013046	0.217242	1	0
DCAF8L1	139425	broad.mit.edu	37	X	27999046	27999046	+	Missense_Mutation	SNP	C	C	A	rs142810555		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:27999046C>A	ENST00000441525.1	-	1	520	c.406G>T	c.(406-408)Gat>Tat	p.D136Y		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	136								p.D136Y(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AACGCCTGATCCTCGTCTAAC	0.567000													4	17					0.150653	0.15348	0.150653	1	0
STMN3	50861	broad.mit.edu	37	20	62273466	62273466	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:62273466C>T	ENST00000370053.1	-	4	559	c.478G>A	c.(478-480)Gag>Aag	p.E160K	STMN3_ENST00000540534.1_Missense_Mutation_p.E149K	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	160					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding	p.E160K(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			CGCACCTTCTCGCGCAGCCGC	0.756000													5	8					0	0	0.184627	0	0
ISL1	3670	broad.mit.edu	37	5	50680542	50680542	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:50680542T>A	ENST00000230658.7	+	2	781	c.196T>A	c.(196-198)Tac>Aac	p.Y66N	ISL1_ENST00000511384.1_Missense_Mutation_p.Y66N	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	66	LIM zinc-binding 1.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y66N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGGGAAAACCTACTGTAAAAG	0.403000													11	142					0	0	0.069234	0	0
OR13C5	138799	broad.mit.edu	37	9	107360953	107360953	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:107360953C>A	ENST00000374779.2	-	1	835	c.742G>T	c.(742-744)Gtg>Ttg	p.V248L		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V248L(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AATGTTATCACCACAGTCAGA	0.423000													12	64					9.05144e-12	1.50447e-11	0.105934	1	0
KIAA1456	57604	broad.mit.edu	37	8	12878740	12878740	+	Silent	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:12878740A>C	ENST00000524591.2	+	5	1041	c.552A>C	c.(550-552)ccA>ccC	p.P184P	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	184							methyltransferase activity	p.P97P(1)|p.P184P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GTGGATACCCAGAAAGAGGCC	0.522000													9	64					0	0	0.047766	0	0
CA13	377677	broad.mit.edu	37	8	86163132	86163132	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:86163132C>T	ENST00000321764.3	+	2	503	c.201C>T	c.(199-201)ttC>ttT	p.F67F	CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	67					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	p.F67F(2)		large_intestine(1)|lung(6)	7						GCCATTCCTTCAATGTTGACT	0.398000													26	144					0	0	0.091800	0	0
SYCP2	10388	broad.mit.edu	37	20	58490245	58490245	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:58490245C>A	ENST00000357552.3	-	10	834	c.609G>T	c.(607-609)atG>atT	p.M203I	SYCP2_ENST00000371001.2_Missense_Mutation_p.M203I			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	203					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.M203I(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCCTTTCTCCCATACTACTCC	0.279000													17	102					1.99824e-07	2.8524e-07	0.160694	1	0
UTP23	84294	broad.mit.edu	37	8	117783872	117783872	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:117783872G>T	ENST00000309822.2	+	3	642	c.541G>T	c.(541-543)Gaa>Taa	p.E181*	UTP23_ENST00000517820.1_Intron|UTP23_ENST00000520733.1_Intron|UTP23_ENST00000357148.3_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	181					rRNA processing	nucleolus		p.E181*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						TCTCAAAGAGGAACAGGGTTT	0.393000													10	45					2.17888e-05	2.76557e-05	0.058154	1	0
CYLC1	1538	broad.mit.edu	37	X	83128556	83128556	+	Nonsense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:83128556T>A	ENST00000329312.4	+	4	877	c.840T>A	c.(838-840)taT>taA	p.Y280*		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	280					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	p.Y280*(1)|p.Y279*(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CTTTGAAGTATACAAAGTATA	0.323000													7	18					0	0	0.029380	0	0
EPPK1	83481	broad.mit.edu	37	8	144944968	144944968	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:144944968C>A	ENST00000525985.1	-	2	2525	c.2454G>T	c.(2452-2454)ctG>ctT	p.L818L				P58107	EPIPL_HUMAN	epiplakin 1	818						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.L818L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCACGGAGAGCAGCAGGTTCT	0.647000													5	17					0.0215528	0.0226011	0.217242	1	0
MDGA2	161357	broad.mit.edu	37	14	47342692	47342692	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:47342692G>T	ENST00000426342.1	-	14	2548	c.1802C>A	c.(1801-1803)cCc>cAc	p.P601H	MDGA2_ENST00000399222.3_Missense_Mutation_p.P32H|MDGA2_ENST00000357362.3_Missense_Mutation_p.P601H|MDGA2_ENST00000439988.2_Missense_Mutation_p.P830H|MDGA2_ENST00000399232.2_Missense_Mutation_p.P899H	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	830	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.P601H(2)|p.P899H(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AGTGTTTGTGGGTCCATAAGG	0.378000													9	82					0.0692343	0.0716284	0.069234	1	0
SWT1	54823	broad.mit.edu	37	1	185143897	185143897	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:185143897G>T	ENST00000367500.4	+	5	783	c.618G>T	c.(616-618)tgG>tgT	p.W206C	SWT1_ENST00000367501.3_Missense_Mutation_p.W206C	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	206								p.W206C(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TAGAGAAATGGAAGAGAAATC	0.328000													27	72					3.28513e-13	5.58053e-13	0.091800	1	0
PNLIPRP3	119548	broad.mit.edu	37	10	118220556	118220556	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:118220556A>T	ENST00000369230.3	+	6	790	c.644A>T	c.(643-645)gAc>gTc	p.D215V		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	215					lipid catabolic process	extracellular region	triglyceride lipase activity	p.D215V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AACTTTGTTGACGTTATTCAT	0.443000													6	69					0	0	0.217242	0	0
DNAH5	1767	broad.mit.edu	37	5	13776646	13776646	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:13776646C>G	ENST00000265104.4	-	55	9379	c.9275G>C	c.(9274-9276)gGg>gCg	p.G3092A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3092	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G3092A(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAATTTCTCCCCCACTGGCGA	0.498000									Kartagener syndrome				25	63					0	0	0.083992	0	0
ZNF831	128611	broad.mit.edu	37	20	57766700	57766700	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:57766700C>T	ENST00000371030.2	+	1	626	c.626C>T	c.(625-627)gCc>gTc	p.A209V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	209						intracellular	nucleic acid binding|zinc ion binding	p.A209V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCGAGGGCGCCGGGGGCGGC	0.677000													15	50					0	0	0.160694	0	0
TACC2	10579	broad.mit.edu	37	10	123843657	123843657	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:123843657G>T	ENST00000369005.1	+	4	1982	c.1642G>T	c.(1642-1644)Ggg>Tgg	p.G548W	TACC2_ENST00000515273.1_Missense_Mutation_p.G548W|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.G548W|TACC2_ENST00000334433.3_Missense_Mutation_p.G548W|TACC2_ENST00000453444.2_Missense_Mutation_p.G548W|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	548	Pro-rich.					microtubule organizing center|nucleus	nuclear hormone receptor binding	p.G548W(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGGCCACCGGGGCCAACGGA	0.597000													14	41					2.61681e-11	4.28631e-11	0.119110	1	0
KIF2B	84643	broad.mit.edu	37	17	51902345	51902345	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:51902345G>T	ENST00000268919.4	+	1	2107	c.1951G>T	c.(1951-1953)Gct>Tct	p.A651S		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	651					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.A651S(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAAAATTGATGCTCTGACCGA	0.453000													6	28					8.12818e-05	9.85601e-05	0.029380	1	0
FAT4	79633	broad.mit.edu	37	4	126412051	126412051	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:126412051T>A	ENST00000394329.3	+	17	14087	c.14074T>A	c.(14074-14076)Tgc>Agc	p.C4692S	FAT4_ENST00000335110.5_Missense_Mutation_p.C2933S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4692					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.C4635S(1)|p.C4692S(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCACTCAGCATGCCCAACTCC	0.502000													15	52					0	0	0.160694	0	0
PPP1R32	220004	broad.mit.edu	37	11	61254452	61254452	+	Silent	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:61254452G>C	ENST00000338608.2	+	10	992	c.867G>C	c.(865-867)gtG>gtC	p.V289V	PPP1R32_ENST00000432063.2_Silent_p.V269V	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	289								p.V289V(1)									CCAGCAGCGTGAGTCACCAGC	0.607000													46	189					0	0	0.139131	0	0
BEND2	139105	broad.mit.edu	37	X	18192213	18192213	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:18192213C>G	ENST00000380033.4	-	12	2050	c.1918G>C	c.(1918-1920)Gct>Cct	p.A640P	BEND2_ENST00000380030.3_Missense_Mutation_p.A549P	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	640								p.A640P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TCAGGGATAGCATTACTGTTT	0.408000													5	40					0	0	0.184627	0	0
ZNF267	10308	broad.mit.edu	37	16	31927483	31927483	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:31927483G>T	ENST00000300870.10	+	4	2122	c.1913G>T	c.(1912-1914)gGc>gTc	p.G638V	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	638					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G638V(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GAAGAATGTGGCAAAGCCTTC	0.413000													8	55					1.12685e-05	1.45676e-05	0.047766	1	0
PPARGC1A	10891	broad.mit.edu	37	4	23816059	23816059	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:23816059C>A	ENST00000264867.2	-	8	1166	c.1047G>T	c.(1045-1047)ccG>ccT	p.P349P	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	349					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	p.P349P(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CGGATTGCTCCGGCCCTTTCT	0.537000													21	83					1.10923e-09	1.73918e-09	0.076483	1	0
ACTC1	70	broad.mit.edu	37	15	35083397	35083397	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:35083397C>A	ENST00000290378.4	-	6	1563	c.908G>T	c.(907-909)gGa>gTa	p.G303V	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	303					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	p.G303V(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGTGGTGCCTCCAGATAAGAC	0.438000													42	85					1.57019e-19	2.90644e-19	0.098360	1	0
OR5P3	120066	broad.mit.edu	37	11	7847327	7847327	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:7847327G>A	ENST00000328375.1	-	1	192	c.193C>T	c.(193-195)Cat>Tat	p.H65Y	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H65Y(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGGCCAAATGGCAGAGGAAA	0.413000													8	37					0	0	0.038147	0	0
SLC10A2	6555	broad.mit.edu	37	13	103703647	103703647	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr13:103703647C>A	ENST00000245312.3	-	4	1317	c.721G>T	c.(721-723)Ggg>Tgg	p.G241W		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	241					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.G241W(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGAAGAAACCCCAGGGAGTAA	0.423000													7	19					0.0293803	0.0306341	0.029380	1	0
ZNF536	9745	broad.mit.edu	37	19	31039133	31039133	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:31039133C>G	ENST00000355537.3	+	4	2754	c.2607C>G	c.(2605-2607)caC>caG	p.H869Q		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	869					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.H869Q(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTGGAGATCACTCGGGGCAGG	0.582000													39	45					0	0	0.225048	0	0
CIDEC	63924	broad.mit.edu	37	3	9911858	9911858	+	Missense_Mutation	SNP	G	G	T	rs145091411		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:9911858G>T	ENST00000336832.2	-	4	495	c.356C>A	c.(355-357)cCa>cAa	p.P119Q	CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000423850.1_Missense_Mutation_p.P45Q|CIDEC_ENST00000455015.1_Missense_Mutation_p.P45Q|CIDEC_ENST00000430427.1_Missense_Mutation_p.P129Q|CIDEC_ENST00000383817.1_Intron	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	119					apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus		p.P119Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					CTGTTCTGATGGGGGCTGCCA	0.532000													18	38					3.41278e-10	5.4264e-10	0.160694	1	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362061	105362061	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:105362061C>A	ENST00000369774.4	-	15	3190	c.2914G>T	c.(2914-2916)Gtg>Ttg	p.V972L	SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.V839L|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.V944L|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.V807L			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	972					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	p.V944L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ACCTGCCGCACTCCGTTCCTC	0.652000													5	32					2.74318e-10	4.3712e-10	0.058154	1	0
KRT6B	3854	broad.mit.edu	37	12	52845437	52845437	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:52845437C>A	ENST00000252252.3	-	1	473	c.426G>T	c.(424-426)caG>caT	p.Q142H		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	142	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton	p.Q142H(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCAGGAGACTCTGGTTGACAG	0.622000													9	77					2.74318e-10	4.3712e-10	0.058154	1	0
RGS1	5996	broad.mit.edu	37	1	192544930	192544930	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:192544930C>T	ENST00000367459.3	+	1	74	c.8C>T	c.(7-9)gCa>gTa	p.A3V	RGS1_ENST00000469578.2_Missense_Mutation_p.A3V	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	3					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.A3V(1)		kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				ACCATGCGCGCAGCAGCCATC	0.443000													14	35					0	0	0.132662	0	0
PTPRD	5789	broad.mit.edu	37	9	8499764	8499764	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:8499764G>T	ENST00000381196.4	-	22	2748	c.2205C>A	c.(2203-2205)ccC>ccA	p.P735P	PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000356435.5_Silent_p.P735P|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Silent_p.P722P|PTPRD_ENST00000540109.1_Silent_p.P735P|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000358503.5_Silent_p.P722P	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	735	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P735P(1)		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)		TATTGGGCACGGGTGAGCGCC	0.483000										TSP Lung(15;0.13)			17	62					0.006122	0.00658464	0.175082	1	0
R3HDM2	22864	broad.mit.edu	37	12	57663634	57663634	+	Silent	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:57663634C>G	ENST00000402412.1	-	15	1878	c.1488G>C	c.(1486-1488)acG>acC	p.T496T	R3HDM2_ENST00000413953.2_Silent_p.T209T|R3HDM2_ENST00000393811.2_Silent_p.T209T|R3HDM2_ENST00000358907.2_Silent_p.T482T|R3HDM2_ENST00000347140.3_Silent_p.T482T|R3HDM2_ENST00000441731.2_Silent_p.T177T|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000403821.2_Silent_p.T516T			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	482	Gln-rich.					nucleus	nucleic acid binding	p.T482T(2)|p.T143T(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GGGGCTGACCCGTGGAAGCCA	0.572000													7	25					0	0	0.029380	0	0
CLEC3A	10143	broad.mit.edu	37	16	78056549	78056549	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:78056549G>T	ENST00000299642.4	+	1	138	c.53G>T	c.(52-54)tGc>tTc	p.C18F	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Missense_Mutation_p.C9F	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	9					skeletal system development	extracellular region	sugar binding	p.C9F(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						CTTGTAATTTGCATCCTGGTG	0.527000													5	27					0.0215528	0.0226011	0.217242	1	0
MAGEC2	51438	broad.mit.edu	37	X	141291417	141291417	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:141291417C>T	ENST00000247452.3	-	3	704	c.357G>A	c.(355-357)caG>caA	p.Q119Q		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	119						cytoplasm|nucleus		p.Q119Q(1)		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)					CCTCCCCTTTCTGGCTGCTGG	0.552000										HNSCC(46;0.14)			4	59					0	0	0.069234	0	0
IL15RA	3601	broad.mit.edu	37	10	5995118	5995118	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:5995118C>T	ENST00000525219.2	-	7	930	c.636G>A	c.(634-636)ccG>ccA	p.P212P	IL15RA_ENST00000397248.2_Silent_p.P212P|IL15RA_ENST00000379971.1_3'UTR|IL15RA_ENST00000397250.2_Silent_p.P150P|IL15RA_ENST00000528354.1_Silent_p.P215P|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000397251.3_Silent_p.P183P|IL15RA_ENST00000379977.3_Silent_p.P248P	NM_001243539.1	NP_001230468.1	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	248					cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity	p.P248P(1)		cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCCAAGTCACCGGCAGAGCCT	0.557000													6	30					0	0	0.217242	0	0
CAMTA1	23261	broad.mit.edu	37	1	7737720	7737720	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:7737720G>T	ENST00000303635.7	+	11	3048	c.2841G>T	c.(2839-2841)tcG>tcT	p.S947S	CAMTA1_ENST00000439411.2_Silent_p.S947S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	947	IPT/TIG.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.S947S(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCTCCAACTCGGTGGTGTTTG	0.552000			T	WWTR1	epitheliod hemangioendothelioma								15	72					6.31663e-08	9.23248e-08	0.132662	1	0
SBK1	388228	broad.mit.edu	37	16	28330425	28330425	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:28330425G>T	ENST00000341901.4	+	3	1125	c.336G>T	c.(334-336)aaG>aaT	p.K112N		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	112	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity	p.V113F(1)|p.K112N(1)		kidney(1)|lung(3)|ovary(1)	5						TCATCATCAAGGTCTTTGACG	0.532000													12	63					2.27111e-07	3.22934e-07	0.093190	1	0
PARP10	84875	broad.mit.edu	37	8	145060242	145060242	+	Silent	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:145060242G>C	ENST00000313028.7	-	2	256	c.162C>G	c.(160-162)ctC>ctG	p.L54L	PARP10_ENST00000524918.1_Silent_p.L54L|PARP10_ENST00000533665.1_Intron|PARP10_ENST00000525773.1_Silent_p.L66L	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	54						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	p.L54L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCTGAAGGTGAGGACGCCCC	0.632000													8	39					0	0	0.038147	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232600887	232600887	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:232600887T>A	ENST00000366630.1	-	8	2877	c.2519A>T	c.(2518-2520)aAg>aTg	p.K840M	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.K840M			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	840					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.K840M(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGGCTTTACCTTCTCCTTTTT	0.507000													20	91					0	0	0.069288	0	0
LRP2	4036	broad.mit.edu	37	2	170094714	170094714	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:170094714C>A	ENST00000263816.3	-	27	4678	c.4393G>T	c.(4393-4395)Ggt>Tgt	p.G1465C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1465					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.G1465C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATGTAAGAACCATTCTCGACC	0.418000													5	48					0.000602214	0.000684377	0.184627	1	0
ITPR1	3708	broad.mit.edu	37	3	4711404	4711404	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:4711404G>T	ENST00000302640.8	+	18	2258	c.1908G>T	c.(1906-1908)ctG>ctT	p.L636L	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Silent_p.L651L|ITPR1_ENST00000456211.2_Silent_p.L636L|ITPR1_ENST00000443694.2_Silent_p.L636L|ITPR1_ENST00000423119.2_Silent_p.L651L|ITPR1_ENST00000354582.6_Silent_p.L651L	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	651					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.L636L(2)|p.L651L(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)		CCCAGGAACTGATATGTAAAG	0.443000													4	11					0.00024832	0.000293815	0.150653	1	0
SAGE1	55511	broad.mit.edu	37	X	134987498	134987498	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:134987498A>C	ENST00000535938.1	+	5	568	c.401A>C	c.(400-402)cAg>cCg	p.Q134P	SAGE1_ENST00000370709.3_Missense_Mutation_p.Q134P|SAGE1_ENST00000537770.1_Missense_Mutation_p.Q134P|SAGE1_ENST00000324447.3_Missense_Mutation_p.Q134P	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	134								p.Q134P(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GCTCCACCACAGCTTGTTCAT	0.453000													10	57					0	0	0.105934	0	0
INTS8	55656	broad.mit.edu	37	8	95862156	95862156	+	Silent	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:95862156G>C	ENST00000523731.1	+	12	1477	c.1344G>C	c.(1342-1344)ctG>ctC	p.L448L	INTS8_ENST00000447247.1_Silent_p.L448L	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	448					snRNA processing	integrator complex	protein binding	p.L448L(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ATGTGTGTCTGGGGTTGGAAG	0.308000													10	51					0	0	0.080935	0	0
HOOK2	29911	broad.mit.edu	37	19	12877045	12877045	+	Silent	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:12877045G>C	ENST00000264827.5	-	15	1553	c.1383C>G	c.(1381-1383)ctC>ctG	p.L461L	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Silent_p.L461L	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	461	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	p.L461L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GAAGCCGCAGGAGCGTCTCCC	0.706000											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	6					0	0	0.217242	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148796291	148796291	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:148796291C>T	ENST00000336498.3	+	8	1061	c.822C>T	c.(820-822)gtC>gtT	p.V274V		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	274	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	p.V274V(1)		autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		ACCTGTATGTCCAGGAAAAAA	0.443000													8	17					0	0	0.058154	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68934442	68934442	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:68934442C>G	ENST00000356291.2	-	7	708	c.649G>C	c.(649-651)Gaa>Caa	p.E217Q	RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	217	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.E217Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CATGGCCATTCCCCTTCCATA	0.522000													17	60					0	0	0.175082	0	0
USH2A	7399	broad.mit.edu	37	1	216052364	216052364	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:216052364G>T	ENST00000366943.2	-	42	8686	c.8300C>A	c.(8299-8301)aCt>aAt	p.T2767N	USH2A_ENST00000307340.3_Missense_Mutation_p.T2767N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2767	Fibronectin type-III 14.				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.T2767N(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)		ATTGGTTAAAGTGATGTGAGG	0.408000										HNSCC(13;0.011)			17	74					1.99824e-07	2.8524e-07	0.160694	1	0
TUBA3C	7278	broad.mit.edu	37	13	19751540	19751540	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr13:19751540G>T	ENST00000400113.3	-	4	687	c.583C>A	c.(583-585)Ctg>Atg	p.L195M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	195					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.L195M(2)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAATGTTCCAGGGTCGTGTGG	0.557000													13	79					0.000151284	0.000181939	0.105934	1	0
PSG11	5680	broad.mit.edu	37	19	43523025	43523025	+	Silent	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:43523025G>C	ENST00000401740.1	-	3	709	c.606C>G	c.(604-606)ctC>ctG	p.L202L	PSG11_ENST00000403486.1_Silent_p.L80L|PSG11_ENST00000320078.7_Silent_p.L202L|PSG11_ENST00000306322.7_Silent_p.L80L|PSG11_ENST00000595312.1_5'UTR			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	202	Ig-like C2-type 1.				female pregnancy	extracellular region		p.L202L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CAAATAGAAAGAGGGTCCTGT	0.507000													129	172					0	0	0.139131	0	0
ROCK1	6093	broad.mit.edu	37	18	18534823	18534823	+	Silent	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:18534823G>C	ENST00000399799.1	-	31	4714	c.3774C>G	c.(3772-3774)gcC>gcG	p.A1258A		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1258	Auto-inhibitory.|PH.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.A1258A(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					GACACTCTAGGGCAGGGGGTG	0.433000													7	60					0	0	0.029380	0	0
PCDH15	65217	broad.mit.edu	37	10	55570360	55570360	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:55570360C>A	ENST00000373965.2	-	35	4853	c.4459G>T	c.(4459-4461)Ggt>Tgt	p.G1487C	PCDH15_ENST00000414778.1_Missense_Mutation_p.G1484C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.M1114I|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1487C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.M1503I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.G1484C(1)|p.M1503I(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCACCTCACCATATTCCTCC	0.363000										HNSCC(58;0.16)			18	71					1.67942e-08	2.51483e-08	0.175082	1	0
DYNC1I1	1780	broad.mit.edu	37	7	95662087	95662087	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:95662087C>T	ENST00000324972.6	+	12	1469	c.1276C>T	c.(1276-1278)Cca>Tca	p.P426S	DYNC1I1_ENST00000437599.1_Missense_Mutation_p.P406S|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.P389S|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.P409S|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.P389S|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.P409S	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	426					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.P426S(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GCTCTCAACTCCACAGGTGGG	0.443000													8	65					0	0	0.038147	0	0
TRBV7-1	28597	broad.mit.edu	37	7	142032070	142032070	+	RNA	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:142032070T>A	ENST00000547918.2	+	0	65																											TGGGCAGCCATATGTCTCCTG	0.562000													4	15					0	0	0.150653	0	0
TLR4	7099	broad.mit.edu	37	9	120476336	120476336	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:120476336G>T	ENST00000355622.6	+	3	2031	c.1930G>T	c.(1930-1932)Gta>Tta	p.V644L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.V604L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	644					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.V644L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGTGCTTGTAGTATCTGTTGT	0.428000													6	32					0.0215528	0.0226011	0.217242	1	0
ADAM9	8754	broad.mit.edu	37	8	38912024	38912024	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:38912024G>T	ENST00000487273.2	+	13	1405	c.1327G>T	c.(1327-1329)Gaa>Taa	p.E443*		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	443	Disintegrin.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	p.E443*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CCCTTGCTGCGAAGGAAGTAC	0.363000													6	52					0.00116845	0.0013046	0.217242	1	0
SLC38A11	151258	broad.mit.edu	37	2	165765220	165765220	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:165765220A>T	ENST00000303735.4	-	9	1121	c.791T>A	c.(790-792)gTg>gAg	p.V264E	SLC38A11_ENST00000409058.1_Missense_Mutation_p.V317E|SLC38A11_ENST00000409662.1_Missense_Mutation_p.V286E|SLC38A11_ENST00000409149.3_Missense_Mutation_p.V286E	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	286					amino acid transport|sodium ion transport	integral to membrane		p.V264E(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						GATGACCATCACTGTTACAAC	0.408000													7	35					0	0	0.038147	0	0
KLHL17	339451	broad.mit.edu	37	1	897302	897302	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:897302G>T	ENST00000338591.3	+	4	693	c.586G>T	c.(586-588)Ggt>Tgt	p.G196C		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	196	BACK.				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold	p.G196C(2)		central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAACTGCCTGGGTATCCGGGG	0.627000													5	45					0.000602214	0.000684377	0.184627	1	0
ANK1	286	broad.mit.edu	37	8	41577265	41577265	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:41577265G>T	ENST00000396942.1	-	10	1104	c.1021C>A	c.(1021-1023)Cca>Aca	p.P341T	ANK1_ENST00000289734.7_Missense_Mutation_p.P341T|ANK1_ENST00000352337.4_Missense_Mutation_p.P341T|ANK1_ENST00000379758.2_Missense_Mutation_p.P341T|ANK1_ENST00000265709.8_Missense_Mutation_p.P374T|ANK1_ENST00000396945.1_Missense_Mutation_p.P341T|ANK1_ENST00000347528.4_Missense_Mutation_p.P341T			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	341	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.P341T(1)|p.P374T(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACGTGGAGTGGGGTCAGGTGG	0.607000													20	133					9.57634e-11	1.54955e-10	0.083992	1	0
SULT1C3	442038	broad.mit.edu	37	2	108881755	108881755	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:108881755A>T	ENST00000329106.2	+	7	863	c.863A>T	c.(862-864)gAc>gTc	p.D288V		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	288						cytoplasm	alcohol sulfotransferase activity	p.D288V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TTTGACAAGGACTACCAGAAG	0.458000													4	41					0	0	0.184627	0	0
ZNF705B	100132396	broad.mit.edu	37	8	7808224	7808224	+	Silent	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:7808224C>G	ENST00000443676.1	+	5	389	c.273C>G	c.(271-273)tcC>tcG	p.S91S	ZNF705B_ENST00000400120.3_Silent_p.S91S			P0CI00	Z705L_HUMAN	zinc finger protein 705B	91					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S91S(2)		kidney(2)|lung(2)	4						ACATGATATCCATGCATCCTA	0.328000													18	40					0	0	0.175082	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256592	140256592	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140256592C>T	ENST00000398631.2	+	1	1535	c.1535C>T	c.(1534-1536)gCg>gTg	p.A512V	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.A512V(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTGCACGCGGAGAGCGGC	0.701000													22	37					0	0	0.234183	0	0
PFN1	5216	broad.mit.edu	37	17	4851651	4851651	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:4851651C>A	ENST00000225655.5	-	1	658	c.39G>T	c.(37-39)gcG>gcT	p.A13A		NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	13					actin cytoskeleton organization|platelet activation|platelet degranulation	actin cytoskeleton|cytoplasm	actin binding|proline-rich region binding	p.A13A(1)		NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						AGGTCCCGTCCGCCATGAGGT	0.682000													7	11					2.0095e-06	2.71264e-06	0.029380	1	0
FAM134B	54463	broad.mit.edu	37	5	16565879	16565879	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:16565879T>A	ENST00000306320.9	-	3	537	c.451A>T	c.(451-453)Agt>Tgt	p.S151C		NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	151					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane		p.S151C(1)		breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						TACCTTTCACTGAGGCTTCTC	0.438000													4	18					0	0	0.184627	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54714394	54714394	+	Nonsense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:54714394G>C	ENST00000355221.3	-	7	1147	c.588C>G	c.(586-588)taC>taG	p.Y196*	ATP6V1H_ENST00000396774.2_Nonsense_Mutation_p.Y214*|ATP6V1H_ENST00000520188.1_Nonsense_Mutation_p.Y174*|ATP6V1H_ENST00000359530.2_Nonsense_Mutation_p.Y214*	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	214					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	p.Y196*(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			AAGCAAAGCGGTACTCATTGA	0.453000													7	18					0	0	0.038147	0	0
APOB	338	broad.mit.edu	37	2	21230966	21230966	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:21230966C>A	ENST00000233242.1	-	26	8901	c.8774G>T	c.(8773-8775)gGa>gTa	p.G2925V		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2925					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.G2925V(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGACCCTTTTCCAGAAGAAGT	0.473000													20	101					1.37657e-19	2.55126e-19	0.234183	1	0
NEB	4703	broad.mit.edu	37	2	152426643	152426643	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:152426643G>A	ENST00000397345.3	-	109	17584	c.17382C>T	c.(17380-17382)gaC>gaT	p.D5794D	NEB_ENST00000603639.1_Silent_p.D5794D|NEB_ENST00000172853.10_Silent_p.D4093D|NEB_ENST00000427231.2_Silent_p.D5794D|NEB_ENST00000604864.1_Silent_p.D5794D|NEB_ENST00000409198.1_Silent_p.D4093D	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5808					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.D4093D(1)|p.D5794D(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATCGTTCTGGTCGGGCATGC	0.512000													4	14					0	0	0.184627	0	0
CNTN1	1272	broad.mit.edu	37	12	41323782	41323782	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:41323782C>A	ENST00000551295.2	+	7	798	c.681C>A	c.(679-681)atC>atA	p.I227I	CNTN1_ENST00000547849.1_Silent_p.I227I|CNTN1_ENST00000348761.2_Silent_p.I216I|CNTN1_ENST00000347616.1_Silent_p.I227I|CNTN1_ENST00000547702.1_Silent_p.I227I|CNTN1_ENST00000360099.3_Silent_p.I227I	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	227					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.I227I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GCAAATTCATCCCACTCATTC	0.363000													17	106					8.60227e-14	1.47669e-13	0.146539	1	0
DCSTAMP	81501	broad.mit.edu	37	8	105361010	105361010	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:105361010A>C	ENST00000297581.2	+	2	279	c.230A>C	c.(229-231)cAt>cCt	p.H77P	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.H77P|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	77					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.H77P(1)									TGCTCCAAGCATGCACGATGT	0.537000													11	62					0	0	0.080935	0	0
ENO3	2027	broad.mit.edu	37	17	4856631	4856631	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:4856631A>G	ENST00000323997.6	+	5	437	c.305A>G	c.(304-306)aAt>aGt	p.N102S	ENO3_ENST00000519584.1_Intron|ENO3_ENST00000518175.1_Missense_Mutation_p.N102S	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	102					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	p.N102S(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GGGACCGAGAATAAGTGTGAG	0.517000													18	40					0	0	0.160694	0	0
TNFRSF8	943	broad.mit.edu	37	1	12164553	12164553	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:12164553C>T	ENST00000263932.2	+	4	608	c.386C>T	c.(385-387)tCt>tTt	p.S129F	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.S18F	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	129					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		p.S129F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTCCATTCTGTCTGTCCG	0.577000													3	22					0	0	0.150653	0	0
SYT14	255928	broad.mit.edu	37	1	210267718	210267718	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:210267718C>A	ENST00000537238.1	+	6	771	c.380C>A	c.(379-381)cCa>cAa	p.P127Q	SYT14_ENST00000367015.1_Missense_Mutation_p.P127Q|SYT14_ENST00000399639.2_Missense_Mutation_p.P165Q|SYT14_ENST00000472886.1_Missense_Mutation_p.P165Q|SYT14_ENST00000422431.1_Missense_Mutation_p.P210Q|SYT14_ENST00000534859.1_Missense_Mutation_p.P165Q|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Missense_Mutation_p.P165Q	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	165						integral to membrane		p.P165Q(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		GAATTGCAGCCACCACCATAT	0.453000													5	26					0.184627	0.186922	0.184627	1	0
SATB1	6304	broad.mit.edu	37	3	18427954	18427954	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:18427954C>A	ENST00000338745.6	-	8	3090	c.1356G>T	c.(1354-1356)ttG>ttT	p.L452F	SATB1_ENST00000454909.2_Missense_Mutation_p.L452F|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.L452F	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	452					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	p.L452F(1)		NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						AGGCAGCATTCAAGCTCCTTT	0.547000													19	61					2.4624e-09	3.80387e-09	0.204396	1	0
ANKHD1	54882	broad.mit.edu	37	5	139851881	139851881	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:139851881G>C	ENST00000394723.3	+	11	1954	c.1840G>C	c.(1840-1842)Gtg>Ctg	p.V614L	ANKHD1-EIF4EBP3_ENST00000532219.1_Intron|ANKHD1_ENST00000394722.3_Missense_Mutation_p.V603L|ANKHD1_ENST00000297183.6_Intron|ANKHD1_ENST00000360839.2_Intron	NM_001197030.1|NM_024668.3	NP_001183959.1|NP_078944.2			ankyrin repeat and KH domain containing 1									p.V614L(1)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGCATCAGGTGAGGGTGGC	0.443000													6	15					0	0	0.029380	0	0
LPA	4018	broad.mit.edu	37	6	160978466	160978466	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:160978466G>A	ENST00000447678.1	-	30	4889	c.4769C>T	c.(4768-4770)cCc>cTc	p.P1590L	LPA_ENST00000316300.5_Missense_Mutation_p.P1590L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4098	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.P1590L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AACAACAGTGGGAGTCTCTAG	0.473000													29	59					0	0	0.153744	0	0
OR4S2	219431	broad.mit.edu	37	11	55418981	55418981	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:55418981G>T	ENST00000312422.2	+	1	602	c.602G>T	c.(601-603)aGt>aTt	p.S201I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S201I(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				ACAGCCAACAGTGGTACCATT	0.463000													31	44					1.13719e-10	1.83402e-10	0.134883	1	0
ZNF804A	91752	broad.mit.edu	37	2	185801171	185801171	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:185801171G>A	ENST00000302277.6	+	4	1642	c.1048G>A	c.(1048-1050)Ggt>Agt	p.G350S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	350						intracellular	zinc ion binding	p.G350S(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACCTGTTAGTGGTAACAGTTT	0.348000													9	37					0	0	0.069234	0	0
ABHD10	55347	broad.mit.edu	37	3	111697944	111697944	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:111697944G>C	ENST00000273359.3	+	1	63	c.36G>C	c.(34-36)tgG>tgC	p.W12C	ABHD10_ENST00000534857.1_5'UTR|ABHD10_ENST00000494817.1_Missense_Mutation_p.W12C	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	12						mitochondrion	serine-type peptidase activity	p.W12C(1)		large_intestine(2)|lung(7)|skin(1)	10						TGGCGGCCTGGGTACCTTGTC	0.687000													9	23					0	0	0.058154	0	0
SCN3A	6328	broad.mit.edu	37	2	165956856	165956856	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:165956856C>T	ENST00000360093.3	-	22	4413	c.3922G>A	c.(3922-3924)Gct>Act	p.A1308T	SCN3A_ENST00000283254.7_Missense_Mutation_p.A1308T|SCN3A_ENST00000409101.3_Missense_Mutation_p.A1259T	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1308						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A1259T(1)|p.A1308T(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GGTCTTAAAGCTCTTAATGTC	0.378000													8	53					0	0	0.038147	0	0
NAV3	89795	broad.mit.edu	37	12	78593237	78593237	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:78593237T>C	ENST00000397909.2	+	37	6814	c.6641T>C	c.(6640-6642)aTa>aCa	p.I2214T	NAV3_ENST00000266692.7_Missense_Mutation_p.I2015T|NAV3_ENST00000536525.2_Missense_Mutation_p.I2192T|NAV3_ENST00000228327.6_Missense_Mutation_p.I2192T|NAV3_ENST00000541270.1_Missense_Mutation_p.I44T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2214						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.I2192T(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						GTCAAAATTATAGATTGGATT	0.363000										HNSCC(70;0.22)			13	47					0	0	0.119110	0	0
MATN2	4147	broad.mit.edu	37	8	98954084	98954084	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:98954084C>T	ENST00000254898.5	+	4	1023	c.792C>T	c.(790-792)tgC>tgT	p.C264C	MATN2_ENST00000521689.1_Silent_p.C264C|MATN2_ENST00000524308.1_Silent_p.C264C|MATN2_ENST00000520016.1_Silent_p.C264C|MATN2_ENST00000522025.2_5'UTR	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	264	EGF-like 1.					proteinaceous extracellular matrix	calcium ion binding	p.C264C(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TCTGCAGGTGCAAACAAGGCT	0.493000													3	14					0	0	0.150653	0	0
BUB1B	701	broad.mit.edu	37	15	40462321	40462321	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:40462321A>T	ENST00000412359.3	+	3	392	c.238A>T	c.(238-240)Agg>Tgg	p.R80W	BUB1B_ENST00000560120.1_3'UTR|BUB1B_ENST00000287598.6_Splice_Site_p.R80_splice			O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	80	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	p.R80W(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGTTTGGGATAGGTGGGTCTT	0.363000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				25	40					0	0	0.108266	0	0
USH2A	7399	broad.mit.edu	37	1	216420490	216420490	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:216420490C>T	ENST00000366943.2	-	13	2632	c.2246G>A	c.(2245-2247)tGt>tAt	p.C749Y	USH2A_ENST00000366942.3_Missense_Mutation_p.C749Y|USH2A_ENST00000307340.3_Missense_Mutation_p.C749Y			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	749	Laminin EGF-like 5.				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.C749Y(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)		ATGGAGGTTACACTGGCAGGG	0.408000										HNSCC(13;0.011)			18	97					0	0	0.204396	0	0
VCAN	1462	broad.mit.edu	37	5	82837667	82837667	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:82837667C>A	ENST00000265077.3	+	8	9410	c.8845C>A	c.(8845-8847)Ccc>Acc	p.P2949T	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P1962T|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2949	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.P2949T(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CAAGATGTTTCCCACCATTAA	0.428000													14	58					3.45872e-05	4.36734e-05	0.146539	1	0
GANAB	23193	broad.mit.edu	37	11	62400518	62400518	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62400518C>T	ENST00000346178.4	-	9	855	c.840G>A	c.(838-840)ggG>ggA	p.G280G	GANAB_ENST00000534779.1_Silent_p.G166G|GANAB_ENST00000356638.3_Silent_p.G258G|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000540933.1_Silent_p.G161G	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	258					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	p.G258G(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GCTCAGGGATCCCATAGACAT	0.522000													6	36					0	0	0.217242	0	0
UBR4	23352	broad.mit.edu	37	1	19486754	19486754	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:19486754G>C	ENST00000375267.2	-	39	5431	c.5428C>G	c.(5428-5430)Ctc>Gtc	p.L1810V	UBR4_ENST00000375217.2_Missense_Mutation_p.L1810V|UBR4_ENST00000375226.2_Missense_Mutation_p.L1810V|UBR4_ENST00000375254.3_Missense_Mutation_p.L1810V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1810					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.L1810V(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTAACACGAGAGGAGCGAAG	0.413000													4	21					0	0	0.150653	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871070	51871070	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:51871070A>C	ENST00000371497.5	+	2	1960	c.1073A>C	c.(1072-1074)aAc>aCc	p.N358T	TSHZ2_ENST00000329613.6_Missense_Mutation_p.N355T|TSHZ2_ENST00000603338.2_Missense_Mutation_p.N355T	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	358					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N358T(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCCTCCAACAACCGCTATGGC	0.502000													14	65					0	0	0.119110	0	0
APOB	338	broad.mit.edu	37	2	21227527	21227527	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:21227527C>T	ENST00000233242.1	-	27	11936	c.11809G>A	c.(11809-11811)Gaa>Aaa	p.E3937K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3937					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.E3937K(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTACCATCTTCGATTTTGTGT	0.368000													17	67					0	0	0.175082	0	0
MET	4233	broad.mit.edu	37	7	116423428	116423428	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:116423428T>C	ENST00000397752.3	+	19	3903	c.3703T>C	c.(3703-3705)Tat>Cat	p.Y1235H	MET_ENST00000318493.6_Missense_Mutation_p.Y1253H|MET_ENST00000539704.1_Missense_Mutation_p.Y105H	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1235	Interaction with RANBP9.|Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.Y1253D(47)|p.Y1253H(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TAAAGAATACTATAGTGTACA	0.398000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				11	61					0	0	0.080935	0	0
NOP14	8602	broad.mit.edu	37	4	2951843	2951843	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:2951843C>A	ENST00000416614.2	-	8	1165	c.1100G>T	c.(1099-1101)gGg>gTg	p.G367V	NOP14_ENST00000502735.1_Missense_Mutation_p.G367V|NOP14_ENST00000314262.6_Missense_Mutation_p.G367V|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.G367V|NOP14-AS1_ENST00000515194.1_RNA			P78316	NOP14_HUMAN	NOP14 nucleolar protein	367					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	p.G367V(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TGTGTCCTCCCCGCCTGAACT	0.532000													29	134					1.80694e-10	2.89506e-10	0.144211	1	0
ROBO3	64221	broad.mit.edu	37	11	124748584	124748584	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:124748584C>T	ENST00000397801.1	+	23	3617	c.3425C>T	c.(3424-3426)cCc>cTc	p.P1142L	ROBO3_ENST00000543966.1_5'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.P1120L|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1142					axon midline choice point recognition	integral to membrane	receptor activity	p.P1142L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AGGGAAACCCCCTCTCCCACA	0.627000													7	12					0	0	0.038147	0	0
FBN2	2201	broad.mit.edu	37	5	127673811	127673811	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:127673811A>T	ENST00000508053.1	-	33	4450	c.3476T>A	c.(3475-3477)aTt>aAt	p.I1159N	FBN2_ENST00000508989.1_Missense_Mutation_p.I1126N|FBN2_ENST00000507835.1_Missense_Mutation_p.I9N|FBN2_ENST00000262464.4_Missense_Mutation_p.I1159N			P35556	FBN2_HUMAN	fibrillin 2	1159	EGF-like 17; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.I1159N(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACATTCGTCAATGTCTGAAAG	0.458000													7	13					0	0	0.047766	0	0
SYT16	83851	broad.mit.edu	37	14	62536500	62536500	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:62536500G>A	ENST00000430451.2	+	2	900	c.703G>A	c.(703-705)Gga>Aga	p.G235R	SYT16_ENST00000446982.2_Missense_Mutation_p.G235R|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	235								p.G235R(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTTGACACACGGAGAAGATGG	0.488000													6	35					0	0	0.029380	0	0
RGL1	23179	broad.mit.edu	37	1	183895386	183895386	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:183895386G>T	ENST00000304685.3	+	19	2833	c.2372G>T	c.(2371-2373)cGg>cTg	p.R791L	RGL1_ENST00000536277.1_Missense_Mutation_p.R754L|RGL1_ENST00000367531.1_Missense_Mutation_p.R791L|RGL1_ENST00000539189.1_Missense_Mutation_p.R727L|RGL1_ENST00000360851.3_Missense_Mutation_p.R756L	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	756					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	p.R791L(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						ACAGCTAAACGGGGCTGCTGG	0.527000													12	49					2.68362e-12	4.48085e-12	0.093190	1	0
CDH2	1000	broad.mit.edu	37	18	25543321	25543321	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:25543321C>A	ENST00000269141.3	-	15	2937	c.2514_splice	c.e15+1	p.E838_splice	CDH2_ENST00000399380.3_Splice_Site_p.E807_splice|AC015933.2_ENST00000423367.1_RNA	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	838					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.E838D(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTCTCTGTACCTCATTAATGA	0.468000													4	12					0.150653	0.15348	0.150653	1	0
HIVEP3	59269	broad.mit.edu	37	1	42047512	42047512	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:42047512C>A	ENST00000372584.1	-	3	3971	c.2957G>T	c.(2956-2958)cGa>cTa	p.R986L	HIVEP3_ENST00000247584.5_Missense_Mutation_p.R986L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R986L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R986L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	986	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.R986L(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCGCATCTCTCGGGCATGTGG	0.607000													15	52					1.3612e-06	1.86498e-06	0.132662	1	0
ANXA2R	389289	broad.mit.edu	37	5	43040126	43040126	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:43040126C>A	ENST00000314890.3	-	2	1442	c.23G>T	c.(22-24)tGt>tTt	p.C8F		NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	8							receptor activity	p.C8F(1)									CCGCTTCACACAGCCAAGAAA	0.547000											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	55					0.000602214	0.000684377	0.184627	1	0
HECW2	57520	broad.mit.edu	37	2	197183364	197183364	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:197183364G>T	ENST00000260983.2	-	9	2432	c.2250C>A	c.(2248-2250)gcC>gcA	p.A750A	HECW2_ENST00000409111.1_Silent_p.A394A	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	750	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.A750A(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTGGGCTCTCGGCAGCAGCTG	0.657000													7	27					0.0293803	0.0306341	0.029380	1	0
LRRN2	10446	broad.mit.edu	37	1	204587709	204587709	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:204587709C>A	ENST00000367175.1	-	1	3624	c.1412G>T	c.(1411-1413)gGc>gTc	p.G471V	LRRN2_ENST00000367177.3_Missense_Mutation_p.G471V|LRRN2_ENST00000367176.3_Missense_Mutation_p.G471V			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	471	Ig-like C2-type.				cell adhesion	integral to membrane	receptor activity	p.G471V(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTACCTCCTGCCTGCATGGGC	0.647000													5	35					0.000602214	0.000684377	0.184627	1	0
PTCHD1	139411	broad.mit.edu	37	X	23412035	23412035	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:23412035G>A	ENST00000379361.4	+	3	3260	c.2400G>A	c.(2398-2400)caG>caA	p.Q800Q		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	800					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	p.Q695Q(1)|p.Q800Q(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CTATTTTACAGAGTTACCTCT	0.408000													10	50					0	0	0.058154	0	0
PLD1	5337	broad.mit.edu	37	3	171404495	171404495	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:171404495C>A	ENST00000351298.4	-	16	1973	c.1847G>T	c.(1846-1848)gGa>gTa	p.G616V	PLD1_ENST00000356327.5_Intron|PLD1_ENST00000342215.6_Intron|PLD1_ENST00000340989.4_Missense_Mutation_p.G616V	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	616	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.G616V(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TCTAGTGAGTCCTTGCTCAGA	0.423000													59	81					5.98616e-33	1.14416e-32	0.139131	1	0
ZNF250	58500	broad.mit.edu	37	8	146107494	146107494	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:146107494C>T	ENST00000292579.7	-	6	1205	c.1089G>A	c.(1087-1089)ggG>ggA	p.G363G	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Silent_p.G358G	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G363G(1)		endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		AGGGCTTCTCCCCGGTGTGGA	0.582000													4	17					0	0	0.150653	0	0
UBN1	29855	broad.mit.edu	37	16	4924548	4924548	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:4924548G>A	ENST00000396658.4	+	14	2840	c.2137G>A	c.(2137-2139)Gaa>Aaa	p.E713K	UBN1_ENST00000262376.6_Missense_Mutation_p.E713K|UBN1_ENST00000590769.1_Missense_Mutation_p.E713K|UBN1_ENST00000545171.1_Missense_Mutation_p.E713K	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	713					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.E713K(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TTTATGTACAGAAGAAAAAAG	0.493000													43	149					0	0	0.124865	0	0
NLRX1	79671	broad.mit.edu	37	11	119045184	119045184	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:119045184G>T	ENST00000409109.1	+	6	1459	c.872G>T	c.(871-873)cGg>cTg	p.R291L	NLRX1_ENST00000525863.1_Missense_Mutation_p.R291L|NLRX1_ENST00000409991.1_Missense_Mutation_p.R291L|NLRX1_ENST00000409265.4_Missense_Mutation_p.R291L|NLRX1_ENST00000292199.2_Missense_Mutation_p.R291L			Q86UT6	NLRX1_HUMAN	NLR family member X1	291	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	p.R291L(2)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTGACCACTCGGCCCTCTGCC	0.547000													30	109					1.61788e-16	2.90663e-16	0.163468	1	0
PRRC2C	23215	broad.mit.edu	37	1	171560734	171560734	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:171560734G>T	ENST00000367742.3	+	34	8450	c.8208G>T	c.(8206-8208)caG>caT	p.Q2736H	PRRC2C_ENST00000338920.4_Missense_Mutation_p.Q2734H|PRRC2C_ENST00000426496.2_Missense_Mutation_p.Q2669H|PRRC2C_ENST00000392078.3_Missense_Mutation_p.Q2815H			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	322							protein C-terminus binding	p.Q2815H(2)									AGGCAAAGCAGAGAGCAGAGG	0.413000													7	57					1.26484e-09	1.97894e-09	0.038147	1	0
SALL4	57167	broad.mit.edu	37	20	50407808	50407808	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:50407808G>T	ENST00000217086.4	-	2	1325	c.1214C>A	c.(1213-1215)aCt>aAt	p.T405N	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	405					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T405N(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTCTCTCCAGTGTGGGAGCG	0.542000													8	37					1.06961e-07	1.5464e-07	0.038147	1	0
HRNR	388697	broad.mit.edu	37	1	152192704	152192704	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:152192704G>T	ENST00000368801.2	-	3	1476	c.1401C>A	c.(1399-1401)caC>caA	p.H467Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	467					keratinization		calcium ion binding|protein binding	p.H467Q(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGACTCGTGGTGACCAAAGC	0.572000													31	155					6.00712e-18	1.09943e-17	0.163468	1	0
MUC16	94025	broad.mit.edu	37	19	9082906	9082906	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:9082906A>T	ENST00000397910.4	-	1	9112	c.8909T>A	c.(8908-8910)aTg>aAg	p.M2970K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2971	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.M2970N(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						ATGCCCTGCCATAGAAGGGGA	0.512000													31	55					0	0	0.153744	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715442	92715442	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:92715442C>A	ENST00000257068.2	+	2	1059	c.1053C>A	c.(1051-1053)ccC>ccA	p.P351P		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	351					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.P351P(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CAGCTCCACCCATCATTGGTG	0.567000													11	70					3.86212e-05	4.79819e-05	0.069234	1	0
SPTBN2	6712	broad.mit.edu	37	11	66483327	66483327	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:66483327G>A	ENST00000533211.1	-	4	614	c.283C>T	c.(283-285)Ctc>Ttc	p.L95F	SPTBN2_ENST00000529997.1_Missense_Mutation_p.L95F|SPTBN2_ENST00000309996.2_Missense_Mutation_p.L95F			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	95	Actin-binding.|CH 1.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	p.L95F(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AGCACCTCGAGGAGCCTCAGC	0.622000													10	15					0	0	0.058154	0	0
IL1R2	7850	broad.mit.edu	37	2	102626230	102626230	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:102626230G>T	ENST00000332549.3	+	3	503	c.274G>T	c.(274-276)Gct>Tct	p.A92S	IL1R2_ENST00000393414.2_Missense_Mutation_p.A92S|IL1R2_ENST00000441002.1_Missense_Mutation_p.A92S	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	92	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	p.A92S(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	CCAGGACGGTGCTCTGTGGCT	0.607000													28	149					1.68575e-08	2.52175e-08	0.125774	1	0
SPATA31D3	389762	broad.mit.edu	37	9	84564721	84564721	+	RNA	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:84564721C>A	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							ACAGATAGCCCCAGGAAGTTG	0.478000													3	8					0.004672	0.00503244	0.115264	1	0
FN1	2335	broad.mit.edu	37	2	216272915	216272915	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:216272915C>T	ENST00000354785.4	-	17	2803	c.2434G>A	c.(2434-2436)Gat>Aat	p.D812N	FN1_ENST00000356005.4_Missense_Mutation_p.D812N|FN1_ENST00000345488.5_Missense_Mutation_p.D812N|FN1_ENST00000336916.4_Missense_Mutation_p.D812N|FN1_ENST00000323926.6_Missense_Mutation_p.D812N|FN1_ENST00000357009.2_Missense_Mutation_p.D812N|FN1_ENST00000443816.1_Missense_Mutation_p.D812N|FN1_ENST00000346544.3_Missense_Mutation_p.D812N|FN1_ENST00000446046.1_Missense_Mutation_p.D812N|FN1_ENST00000432072.2_Missense_Mutation_p.D812N|FN1_ENST00000421182.1_Missense_Mutation_p.D812N|FN1_ENST00000359671.1_Missense_Mutation_p.D812N|FN1_ENST00000357867.4_Missense_Mutation_p.D812N			P02751	FINC_HUMAN	fibronectin 1	812	Fibronectin type-III 3.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	p.D812N(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAGGGGCATCAGGCGCTAAG	0.493000													10	33					0	0	0.058154	0	0
HYDIN	54768	broad.mit.edu	37	16	70926292	70926292	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:70926292A>T	ENST00000393567.2	-	56	9539	c.9389T>A	c.(9388-9390)aTt>aAt	p.I3130N		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3130								p.I3129N(1)|p.I3081N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGGTGCTCAATCTTCACTTC	0.478000													6	73					0	0	0.217242	0	0
AMER2	219287	broad.mit.edu	37	13	25745661	25745661	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr13:25745661C>T	ENST00000357816.2	-	2	572	c.97G>A	c.(97-99)Ggg>Agg	p.G33R	AMER2_ENST00000515384.1_Missense_Mutation_p.G33R|AMER2_ENST00000381853.3_Missense_Mutation_p.G33R					APC membrane recruitment protein 2									p.G33R(2)									GTCCCGGCCCCGGCCTCCGCC	0.721000													3	5					0	0	0.184627	0	0
IGHV3-49	28423	broad.mit.edu	37	14	107012956	107012956	+	RNA	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:107012956G>T	ENST00000390625.2	-	0	418																											AGTAATACACGGCTGTGTCCT	0.537000													12	75					2.35188e-11	3.86098e-11	0.175082	1	0
TUBB4A	10382	broad.mit.edu	37	19	6495419	6495419	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:6495419G>T	ENST00000264071.2	-	4	1462	c.1091C>A	c.(1090-1092)gCc>gAc	p.A364D	TUBB4A_ENST00000540257.1_Missense_Mutation_p.A364D			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	364					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.A364D(1)									GAAGGTCGCGGCCATCTTCAG	0.622000													48	99					5.39261e-20	1.00452e-19	0.139131	1	0
GBF1	8729	broad.mit.edu	37	10	104139301	104139301	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:104139301G>T	ENST00000369983.3	+	35	4926	c.4666G>T	c.(4666-4668)Gcc>Tcc	p.A1556S		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1556					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	p.A1556S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GTGCTGCGATGCCCGGCGCCA	0.562000													17	125					1.99824e-07	2.8524e-07	0.160694	1	0
OR2T1	26696	broad.mit.edu	37	1	248569919	248569919	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248569919C>A	ENST00000366474.1	+	1	624	c.624C>A	c.(622-624)ctC>ctA	p.L208L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L208L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGGCTTCCTCCTAACCCCCA	0.532000													9	53					1.12685e-05	1.45676e-05	0.047766	1	0
IL1RAP	3556	broad.mit.edu	37	3	190363614	190363614	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:190363614A>G	ENST00000412504.2	+	10	1580	c.1328A>G	c.(1327-1329)gAc>gGc	p.D443G	IL1RAP_ENST00000317757.3_Missense_Mutation_p.D443G|IL1RAP_ENST00000443369.2_Missense_Mutation_p.D443G|IL1RAP_ENST00000439062.1_Missense_Mutation_p.D443G|IL1RAP_ENST00000072516.3_Missense_Mutation_p.D443G|IL1RAP_ENST00000447382.1_Missense_Mutation_p.D443G			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	443	TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		p.D443G(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TTTGACCGAGACAGTCTGCCT	0.433000													3	42					0	0	0.115264	0	0
AOC3	8639	broad.mit.edu	37	17	41004452	41004452	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:41004452C>A	ENST00000308423.2	+	1	1252	c.1092C>A	c.(1090-1092)agC>agA	p.S364R		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	364					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	p.S364R(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ATGAGATAAGCCTCCAAGAGG	0.537000													12	54					6.40141e-05	7.87949e-05	0.080935	1	0
KANSL1	284058	broad.mit.edu	37	17	44110791	44110791	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:44110791C>A	ENST00000262419.6	-	12	3172	c.2702G>T	c.(2701-2703)aGt>aTt	p.S901I	KANSL1_ENST00000575318.1_Missense_Mutation_p.S837I|KANSL1_ENST00000572904.1_Missense_Mutation_p.S901I|KANSL1_ENST00000574590.1_Missense_Mutation_p.S901I|KANSL1_ENST00000393476.3_Missense_Mutation_p.S195I|KANSL1_ENST00000432791.1_Missense_Mutation_p.S901I	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	901						MLL1 complex	protein binding	p.S901I(1)									CTCATCAGGACTCCCCTTCAG	0.483000													9	38					0.000673444	0.000759438	0.069234	1	0
NOC4L	79050	broad.mit.edu	37	12	132630208	132630208	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:132630208A>C	ENST00000330579.1	+	3	384	c.343A>C	c.(343-345)Aag>Cag	p.K115Q		NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	115					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	p.K115Q(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CTTTCAGGTCAAGGTGGGTCA	0.592000													3	13					0	0	0.115264	0	0
DEFB114	245928	broad.mit.edu	37	6	49928016	49928016	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:49928016C>T	ENST00000322066.3	-	2	198	c.199G>A	c.(199-201)Gat>Aat	p.D67N		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	67					defense response to bacterium	extracellular region		p.D67N(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					CAAAACATATCATCTTCTTCA	0.358000													10	24					0	0	0.069234	0	0
ZYX	7791	broad.mit.edu	37	7	143078840	143078840	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:143078840G>T	ENST00000322764.5	+	2	521	c.176G>T	c.(175-177)cGg>cTg	p.R59L	ZYX_ENST00000449423.2_Missense_Mutation_p.R3L	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	59					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	p.R59L(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CAGATGGGCCGGGTGGGCGAG	0.721000													4	8					0.00024832	0.000293815	0.150653	1	0
GANAB	23193	broad.mit.edu	37	11	62402453	62402453	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62402453C>T	ENST00000346178.4	-	5	415	c.400G>A	c.(400-402)Gat>Aat	p.D134N	GANAB_ENST00000534779.1_Missense_Mutation_p.D20N|GANAB_ENST00000356638.3_Missense_Mutation_p.D134N|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000540933.1_Missense_Mutation_p.D37N	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	134					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	p.D134N(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						CTGTTCTCATCACGACCAGAG	0.468000													10	59					0	0	0.069234	0	0
PIGO	84720	broad.mit.edu	37	9	35092239	35092239	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:35092239C>A	ENST00000378617.3	-	7	2039	c.1645G>T	c.(1645-1647)Gtc>Ttc	p.V549F	PIGO_ENST00000341666.3_Missense_Mutation_p.V549F|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	549					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.V549F(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGTAACAGGACGGGCCCAGGG	0.572000													12	40					0.00244969	0.00268806	0.119110	1	0
GUCY1A2	2977	broad.mit.edu	37	11	106558347	106558347	+	Silent	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:106558347A>G	ENST00000526355.1	-	8	2595	c.2127T>C	c.(2125-2127)tcT>tcC	p.S709S	GUCY1A2_ENST00000282249.2_Silent_p.S740S|GUCY1A2_ENST00000347596.2_Silent_p.S730S	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	709					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.S709S(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		ACGAAGAAAGAGAAGGCTTTG	0.493000													16	88					0	0	0.189662	0	0
OTOGL	283310	broad.mit.edu	37	12	80626689	80626689	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:80626689C>A	ENST00000458043.2	+	8	608	c.602C>A	c.(601-603)aCa>aAa	p.T201K	OTOGL_ENST00000547103.1_Missense_Mutation_p.T201K	NM_173591.3	NP_775862.3			otogelin-like									p.T201K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTGCCTCAGACAATTGGACAG	0.358000													8	29					3.09899e-07	4.38524e-07	0.047766	1	0
PKD1L1	168507	broad.mit.edu	37	7	47930295	47930295	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:47930295G>T	ENST00000289672.2	-	16	2570	c.2520C>A	c.(2518-2520)caC>caA	p.H840Q		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	840	REJ.				cell-cell adhesion	integral to membrane		p.H840Q(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CATCCAGTTGGTGTGCAGTGG	0.587000													7	38					2.0095e-06	2.71264e-06	0.029380	1	0
ABCA4	24	broad.mit.edu	37	1	94463473	94463473	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:94463473G>T	ENST00000370225.3	-	48	6759	c.6673C>A	c.(6673-6675)Cac>Aac	p.H2225N	ABCA4_ENST00000536513.1_Missense_Mutation_p.H495N|ABCA4_ENST00000535881.1_Missense_Mutation_p.H344N	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2225					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.H2225N(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTGTCCTTGTGGGAGAGGAGG	0.597000													5	30					0.0215528	0.0226011	0.217242	1	0
NPBWR2	2832	broad.mit.edu	37	20	62737247	62737247	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:62737247G>T	ENST00000369768.1	-	1	1277	c.938C>A	c.(937-939)cCc>cAc	p.P313H		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	313						plasma membrane	opioid receptor activity|protein binding	p.P313H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GTAGAGGAAGGGGTTCAGGCA	0.582000													5	37					0.00116845	0.0013046	0.217242	1	0
SLC25A47	283600	broad.mit.edu	37	14	100795129	100795129	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:100795129C>G	ENST00000361529.3	+	5	472	c.394C>G	c.(394-396)Cag>Gag	p.Q132E	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	132					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.Q132E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GGCGCAGAAGCAGCAGCGGCG	0.672000													4	25					0	0	0.150653	0	0
PGR	5241	broad.mit.edu	37	11	100912825	100912825	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:100912825C>A	ENST00000325455.5	-	7	3950	c.2497G>T	c.(2497-2499)Gaa>Taa	p.E833*	PGR_ENST00000263463.5_Nonsense_Mutation_p.E731*|PGR_ENST00000534013.1_Nonsense_Mutation_p.E239*	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	833	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.E833*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CGTAGCCCTTCCAAAGGAACT	0.363000													15	33					1.49906e-05	1.90766e-05	0.119110	1	0
FGD5	152273	broad.mit.edu	37	3	14905750	14905750	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:14905750C>A	ENST00000285046.5	+	2	2751	c.2641C>A	c.(2641-2643)Ccc>Acc	p.P881T	FGD5_ENST00000543601.1_Missense_Mutation_p.P640T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	881					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.P881T(1)|p.P640T(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TTCAAGAGACCCCAGTGTCAC	0.587000													9	30					0.000274275	0.000320388	0.047766	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76389295	76389295	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:76389295G>T	ENST00000307431.8	+	4	659	c.274G>T	c.(274-276)Gct>Tct	p.A92S	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.A92S|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.A68S|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.A96S	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	93	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.A68S(2)|p.A92S(1)|p.A68T(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						GGAGGTCACCGCTGTGGCCAC	0.483000													5	39					0.000602214	0.000684377	0.184627	1	0
CRNN	49860	broad.mit.edu	37	1	152382557	152382557	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:152382557C>T	ENST00000271835.3	-	3	1063	c.1001G>A	c.(1000-1002)gGc>gAc	p.G334D	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	334	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	p.G334D(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTCCTGCCTTGACCGTG	0.592000													24	163					0	0	0.091800	0	0
CCNT2	905	broad.mit.edu	37	2	135711659	135711659	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:135711659G>A	ENST00000264157.5	+	9	1664	c.1634G>A	c.(1633-1635)aGc>aAc	p.S545N	CCNT2_ENST00000537343.1_Missense_Mutation_p.S370N|CCNT2_ENST00000295238.6_Missense_Mutation_p.S545N	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	545					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.S545N(1)		endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		AGTGGGAAGAGCAAACATTCA	0.463000													7	45					0	0	0.029380	0	0
AGMO	392636	broad.mit.edu	37	7	15584536	15584536	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:15584536C>G	ENST00000342526.3	-	3	439	c.270G>C	c.(268-270)agG>agC	p.R90S		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	90					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.R90S(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GTTCAATGCTCCTGAAAAATA	0.313000													16	70					0	0	0.146539	0	0
OXGR1	27199	broad.mit.edu	37	13	97639828	97639828	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr13:97639828C>G	ENST00000298440.1	-	4	429	c.186G>C	c.(184-186)atG>atC	p.M62I	OXGR1_ENST00000543457.1_Missense_Mutation_p.M62I	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	62						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.M62I(1)		NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TCCAAGGTCTCATTTTGAAAA	0.468000													5	5					0	0	0.184627	0	0
ERBB4	2066	broad.mit.edu	37	2	212251644	212251644	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:212251644G>T	ENST00000342788.4	-	27	3725	c.3415C>A	c.(3415-3417)Cgg>Agg	p.R1139R	ERBB4_ENST00000436443.1_Silent_p.R1123R|ERBB4_ENST00000402597.1_Silent_p.R1129R	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1139					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.R1139R(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CGTGGGCTCCGTTCTGGGGCA	0.537000										TSP Lung(8;0.080)			12	47					6.40141e-05	7.87949e-05	0.080935	1	0
ASPM	259266	broad.mit.edu	37	1	197069979	197069979	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:197069979G>A	ENST00000367409.4	-	18	8658	c.8402C>T	c.(8401-8403)tCt>tTt	p.S2801F	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2801					mitosis	cytoplasm|nucleus	calmodulin binding	p.S2801F(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGCAAGGCCAGAAGCTTTATA	0.393000													17	109					0	0	0.175082	0	0
AVPR1A	552	broad.mit.edu	37	12	63543872	63543872	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:63543872C>A	ENST00000299178.2	-	1	850	c.745G>T	c.(745-747)Ggg>Tgg	p.G249W		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	249					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.G249W(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCCGTCTTCCCGCGGACGTTG	0.612000													17	93					4.75885e-15	8.35506e-15	0.160694	1	0
DYNC1I1	1780	broad.mit.edu	37	7	95442509	95442509	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:95442509G>T	ENST00000324972.6	+	4	418	c.223_splice	c.e4-1	p.V75_splice	DYNC1I1_ENST00000413338.1_Intron|DYNC1I1_ENST00000437599.1_Splice_Site_p.V75_splice|DYNC1I1_ENST00000359388.4_Intron|DYNC1I1_ENST00000447467.2_Intron|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000457059.1_Intron	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	75	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.V75V(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTTCACCAGTGCAGCCGCTGC	0.418000													19	122					2.37509e-13	4.03931e-13	0.219247	1	0
MAP3K4	4216	broad.mit.edu	37	6	161530849	161530849	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:161530849G>T	ENST00000392142.4	+	23	4447	c.4299G>T	c.(4297-4299)ctG>ctT	p.L1433L	MAP3K4_ENST00000348824.7_Silent_p.L1379L|MAP3K4_ENST00000366920.2_Silent_p.L1429L|MAP3K4_ENST00000366919.2_Silent_p.L1383L	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1433	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.L1433L(1)|p.L1432L(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TGTCAAGGCTGGGACTTCAGG	0.468000													15	33					3.27435e-08	4.83404e-08	0.119110	1	0
EPB41L1	2036	broad.mit.edu	37	20	34797560	34797560	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:34797560A>G	ENST00000338074.2	+	15	1980	c.1819A>G	c.(1819-1821)Agc>Ggc	p.S607G	EPB41L1_ENST00000202028.5_Missense_Mutation_p.S533G|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000441639.1_Missense_Mutation_p.S533G|EPB41L1_ENST00000373950.2_Missense_Mutation_p.S498G|EPB41L1_ENST00000373941.1_Missense_Mutation_p.S607G|EPB41L1_ENST00000373946.3_Intron	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	607					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	p.S896G(1)|p.S607G(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CAAGTGCTCCAGCATCACGGT	0.607000													5	22					0	0	0.217242	0	0
NOVA1	4857	broad.mit.edu	37	14	26918030	26918030	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:26918030A>G	ENST00000539517.2	-	5	976	c.659T>C	c.(658-660)gTt>gCt	p.V220A	NOVA1_ENST00000465357.2_Missense_Mutation_p.V196A|NOVA1_ENST00000267422.7_Missense_Mutation_p.V98A	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	223	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	p.V220A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CACAGTGACAACCCTCTCTTG	0.483000													12	87					0	0	0.132662	0	0
USH2A	7399	broad.mit.edu	37	1	215960131	215960131	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:215960131T>A	ENST00000366943.2	-	52	10654	c.10268A>T	c.(10267-10269)cAc>cTc	p.H3423L	USH2A_ENST00000307340.3_Missense_Mutation_p.H3423L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3423	Fibronectin type-III 19.				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.H3423L(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)		AGTGCAAATGTGGCTGGTAAA	0.468000										HNSCC(13;0.011)			5	48					0	0	0.184627	0	0
CINP	51550	broad.mit.edu	37	14	102825902	102825902	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:102825902C>A	ENST00000216756.6	-	2	70	c.30G>T	c.(28-30)acG>acT	p.T10T	CINP_ENST00000541568.2_Silent_p.T10T|CINP_ENST00000536961.2_Silent_p.T25T	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	10					cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding	p.T10T(1)		large_intestine(2)|lung(2)	4						GTTTTCTGGGCGTTACAGTTC	0.373000													10	61					3.03607e-14	5.23633e-14	0.093190	1	0
ABI3	51225	broad.mit.edu	37	17	47299960	47299960	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:47299960C>A	ENST00000225941.1	+	8	1482	c.984C>A	c.(982-984)tcC>tcA	p.S328S	ABI3_ENST00000419580.2_Silent_p.S322S	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	328	SH3.				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding	p.S328S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			ATGAGCTCTCCTTCTCTGAGG	0.582000										HNSCC(55;0.14)			8	28					5.4927e-09	8.36169e-09	0.047766	1	0
WBSCR17	64409	broad.mit.edu	37	7	71142239	71142239	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:71142239C>A	ENST00000333538.5	+	9	2082	c.1448C>A	c.(1447-1449)cCg>cAg	p.P483Q	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	483	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.P483Q(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)				GACCAGGGGCCGCTGGAGAAC	0.532000													35	155					6.97489e-18	1.27496e-17	0.214465	1	0
RSAD2	91543	broad.mit.edu	37	2	7030450	7030450	+	Missense_Mutation	SNP	C	C	A	rs139075974	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:7030450C>A	ENST00000382040.3	+	4	1018	c.882C>A	c.(880-882)aaC>aaA	p.N294K	RSAD2_ENST00000541728.1_Missense_Mutation_p.N187K	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	294					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	p.N294K(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		CTGAATCTAACCAGAAGGTTG	0.398000													6	30					0.00307968	0.00335674	0.038147	1	0
ZAN	7455	broad.mit.edu	37	7	100383678	100383678	+	RNA	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:100383678C>T	ENST00000542585.1	+	0	7039				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.A2297A(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGGGAGGAGCCATTCAGTGCG	0.587000													14	30					0	0	0.132662	0	0
FAM133A	286499	broad.mit.edu	37	X	92964820	92964820	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:92964820G>T	ENST00000538690.1	+	5	963	c.402G>T	c.(400-402)aaG>aaT	p.K134N	FAM133A_ENST00000355813.5_Missense_Mutation_p.K134N|FAM133A_ENST00000332647.4_Missense_Mutation_p.K134N|FAM133A_ENST00000322139.4_Missense_Mutation_p.K134N	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	134	Lys-rich.|Ser-rich.							p.K134N(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						GAAAGAAAAAGAAGAACCGTT	0.383000													3	3					0.014758	0.0155761	0.184627	1	0
ERCC2	2068	broad.mit.edu	37	19	45867586	45867586	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:45867586T>A	ENST00000391945.4	-	9	799	c.722A>T	c.(721-723)aAc>aTc	p.N241I	ERCC2_ENST00000485403.2_Missense_Mutation_p.N217I|ERCC2_ENST00000221481.6_Missense_Mutation_p.T122S|ERCC2_ENST00000391944.3_Missense_Mutation_p.N163I|ERCC2_ENST00000391940.4_Missense_Mutation_p.N217I	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	241	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.N241I(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GATGCAGACGTTGTCTGGAGA	0.672000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				21	15					0	0	0.069288	0	0
MARCO	8685	broad.mit.edu	37	2	119731947	119731947	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:119731947G>T	ENST00000541757.1	+	6	645	c.265G>T	c.(265-267)Gcc>Tcc	p.A89S	MARCO_ENST00000327097.4_Missense_Mutation_p.A167S			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	167					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.A167S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CATGCCTGGTGCCCCTGGCCC	0.577000													3	8					0.004672	0.00503244	0.115264	1	0
BCLAF1	9774	broad.mit.edu	37	6	136600958	136600958	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:136600958C>A	ENST00000531224.1	-	3	299	c.47G>T	c.(46-48)aGa>aTa	p.R16I	BCLAF1_ENST00000527536.1_Missense_Mutation_p.R16I|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R16I|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R16I|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R16I|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R16I	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	16					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R16I(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGACTGTGATCTAGACTTTGA	0.313000													8	48					0.000442599	0.000513331	0.058154	1	0
SELE	6401	broad.mit.edu	37	1	169698749	169698749	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:169698749T>C	ENST00000333360.7	-	6	920	c.781A>G	c.(781-783)Agc>Ggc	p.S261G	SELE_ENST00000367776.1_Missense_Mutation_p.S261G|SELE_ENST00000367782.4_Missense_Mutation_p.S261G|SELE_ENST00000367777.1_Missense_Mutation_p.S261G|SELE_ENST00000367779.4_Missense_Mutation_p.S261G|SELE_ENST00000367775.1_Missense_Mutation_p.S199G|SELE_ENST00000367781.4_Missense_Mutation_p.S261G|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Missense_Mutation_p.S261G|SELE_ENST00000367780.4_Missense_Mutation_p.S199G	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	261	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	p.S261G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CATGGGAAGCTTCCAGGGTTT	0.448000													15	67					0	0	0.132662	0	0
TTC21B	79809	broad.mit.edu	37	2	166799738	166799738	+	Silent	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:166799738C>G	ENST00000243344.7	-	5	680	c.543G>C	c.(541-543)ctG>ctC	p.L181L	AC010127.5_ENST00000443032.1_RNA|AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	181						cilium axoneme|cytoplasm|cytoskeleton	binding	p.L181L(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CCTTACCCAGCAGAGCAAAAG	0.348000													4	30					0	0	0.217242	0	0
SEMA3B	7869	broad.mit.edu	37	3	50308357	50308357	+	RNA	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:50308357T>C	ENST00000418948.1	+	0	601							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	p.Y122H(1)		central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTGCATGCCTACAACCGCAC	0.592000													2	6					0	0	0.115264	0	0
MLXIPL	51085	broad.mit.edu	37	7	73008622	73008622	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:73008622G>C	ENST00000313375.3	-	16	2469	c.2422C>G	c.(2422-2424)Ctg>Gtg	p.L808V	MLXIPL_ENST00000395189.1_Missense_Mutation_p.L715V|MLXIPL_ENST00000354613.1_Missense_Mutation_p.L787V|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L806V|MLXIPL_ENST00000429400.2_Missense_Mutation_p.L789V|MLXIPL_ENST00000434326.1_Missense_Mutation_p.L714V	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	808					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.L808V(2)		cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGAGCGGGCAGAGAGCAGTAC	0.627000													9	62					0	0	0.069234	0	0
FZD3	7976	broad.mit.edu	37	8	28360629	28360629	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:28360629G>T	ENST00000240093.3	+	3	577	c.99G>T	c.(97-99)ttG>ttT	p.L33F	FZD3_ENST00000537916.1_Missense_Mutation_p.L33F	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	33	FZ.				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	p.L33F(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		CTATTACCTTGAGGATGTGCC	0.433000													14	71					1.33834e-09	2.08502e-09	0.189662	1	0
PAPPA2	60676	broad.mit.edu	37	1	176709266	176709266	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:176709266G>T	ENST00000367662.3	+	14	5249	c.4085G>T	c.(4084-4086)cGc>cTc	p.R1362L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1362					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R1362H(1)|p.R1362L(1)		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						ACATCCTCCCGCATTGGTCTT	0.507000													20	44					1.96292e-10	3.13811e-10	0.219247	1	0
CYP2E1	1571	broad.mit.edu	37	10	135346316	135346316	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:135346316C>G	ENST00000463117.2	+	7	1041	c.769C>G	c.(769-771)Ctg>Gtg	p.L257V	CYP2E1_ENST00000252945.3_Missense_Mutation_p.L257V|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	257					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	p.L257V(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CCATCAATCTCTGGACCCCAA	0.537000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				11	58					0	0	0.080935	0	0
HEATR1	55127	broad.mit.edu	37	1	236754225	236754225	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:236754225C>G	ENST00000366582.3	-	12	1566	c.1452G>C	c.(1450-1452)atG>atC	p.M484I	HEATR1_ENST00000366581.2_Missense_Mutation_p.M484I	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	484					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.M484I(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TCAGGCTGAGCATCAAAGAAG	0.348000													6	19					0	0	0.029380	0	0
PNMAL2	57469	broad.mit.edu	37	19	46997168	46997168	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:46997168C>T	ENST00000599531.1	-	1	2587	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	PNMAL2_ENST00000377655.2_Intron|PNMAL2_ENST00000594749.1_Intron	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	519										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GCCTCGCTCTCGGTGTCCTCC	0.726000													19	21					0	0	0.219247	0	0
COL3A1	1281	broad.mit.edu	37	2	189876477	189876477	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:189876477G>T	ENST00000304636.3	+	51	4548	c.4378G>T	c.(4378-4380)Gtt>Ttt	p.V1460F	COL3A1_ENST00000317840.5_Missense_Mutation_p.V1157F	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1460	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.V1460F(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTGTGGACGTTGGCCCTGT	0.388000													8	52					0.000442599	0.000513331	0.058154	1	0
CSGALNACT2	55454	broad.mit.edu	37	10	43651081	43651081	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:43651081G>T	ENST00000374466.3	+	2	819	c.484G>T	c.(484-486)Ggt>Tgt	p.G162C	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.G162C	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	162					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.G162C(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATTGGAAATGGGTCTCACTCG	0.413000													7	51					0.0293803	0.0306341	0.029380	1	0
FOXN4	121643	broad.mit.edu	37	12	109723261	109723261	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:109723261C>A	ENST00000299162.5	-	8	853	c.749G>T	c.(748-750)tGc>tTc	p.C250F	FOXN4_ENST00000355216.1_Missense_Mutation_p.C70F	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	250					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.C70F(1)|p.C250F(1)		large_intestine(5)|lung(9)|ovary(2)	16						CTTCTCGAAGCACTTGTTCAG	0.597000													5	30					8.12818e-05	9.85601e-05	0.029380	1	0
NPY2R	4887	broad.mit.edu	37	4	156136234	156136234	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:156136234C>A	ENST00000329476.3	+	2	1632	c.1143C>A	c.(1141-1143)gtC>gtA	p.V381V	NPY2R_ENST00000506608.1_Silent_p.V381V	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	381					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.V381V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CTACCAATGTCTAAGGAAGCT	0.443000													5	32					0.0215528	0.0226011	0.217242	1	0
LRRC7	57554	broad.mit.edu	37	1	70541879	70541879	+	Missense_Mutation	SNP	G	G	T	rs143842567		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:70541879G>T	ENST00000310961.5	+	24	4528	c.4110G>T	c.(4108-4110)ttG>ttT	p.L1370F	LRRC7_ENST00000035383.5_Missense_Mutation_p.L1412F|LRRC7_ENST00000415775.2_Missense_Mutation_p.L696F			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1412						centrosome|focal adhesion|nucleolus	protein binding	p.L1412F(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGTCACCATTGCCTATTCAGA	0.517000													11	55					9.70103e-10	1.5243e-09	0.069234	1	0
MAGEB16	139604	broad.mit.edu	37	X	35821107	35821107	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:35821107T>A	ENST00000399989.1	+	2	1073	c.794T>A	c.(793-795)gTg>gAg	p.V265E	MAGEB16_ENST00000399992.1_Missense_Mutation_p.V297E|MAGEB16_ENST00000399985.1_Missense_Mutation_p.V265E|MAGEB16_ENST00000399987.1_Missense_Mutation_p.V265E|MAGEB16_ENST00000399988.1_Missense_Mutation_p.V265E	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	265	MAGE.							p.V432E(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TACCAGCAGGTGGCCAACAGT	0.483000													4	19					0	0	0.150653	0	0
UQCRB	7381	broad.mit.edu	37	8	97247745	97247745	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:97247745T>C	ENST00000287022.5	-	1	117	c.14A>G	c.(13-15)cAg>cGg	p.Q5R	UQCRB_ENST00000523920.1_Missense_Mutation_p.Q5R|KB-1043D8.6_ENST00000520575.1_RNA|UQCRB_ENST00000518406.1_Missense_Mutation_p.Q5R	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	5					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial respiratory chain	ubiquinol-cytochrome-c reductase activity	p.Q5R(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					CTTACCGGCCTGCTTACCAGC	0.542000													13	44					0	0	0.119110	0	0
CYP4F2	8529	broad.mit.edu	37	19	16008282	16008282	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:16008282C>G	ENST00000221700.5	-	2	235	c.140G>C	c.(139-141)cGc>cCc	p.R47P	CYP4F2_ENST00000011989.7_5'UTR|CYP4F2_ENST00000592328.1_Missense_Mutation_p.R47P	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	47					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.R47P(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACACCGAAGGCGGCGGCAGTT	0.627000													9	41					0	0	0.105934	0	0
SORCS3	22986	broad.mit.edu	37	10	106959780	106959780	+	Missense_Mutation	SNP	G	G	T	rs146574756		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:106959780G>T	ENST00000369701.3	+	15	2260	c.2033G>T	c.(2032-2034)cGc>cTc	p.R678L	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	678						integral to membrane	neuropeptide receptor activity	p.R678F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTCAGCCTCCGCTCCGAATGG	0.498000													8	58					0.00307968	0.00335674	0.038147	1	0
C1orf173	127254	broad.mit.edu	37	1	75072430	75072430	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:75072430G>T	ENST00000326665.5	-	10	1562	c.1344C>A	c.(1342-1344)aaC>aaA	p.N448K	C1orf173_ENST00000420661.2_Missense_Mutation_p.N251K|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	448	Glu-rich.							p.N448K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CAGAGGTTTTGTTCTCCTTGA	0.408000													23	122					2.21704e-12	3.71873e-12	0.076483	1	0
HRNR	388697	broad.mit.edu	37	1	152188223	152188223	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:152188223G>C	ENST00000368801.2	-	3	5957	c.5882C>G	c.(5881-5883)tCt>tGt	p.S1961C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1961					keratinization		calcium ion binding|protein binding	p.S1961C(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTAGCTGGAAGACTGCCCAGA	0.617000													16	770					0	0	0.189662	0	0
TTN	7273	broad.mit.edu	37	2	179622489	179622489	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:179622489C>A	ENST00000589042.1	-	45	10682	c.10458G>T	c.(10456-10458)gcG>gcT	p.A3486A	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Silent_p.A3440A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3170							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A3440A(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)			CAGAAACCCTCGCATGAAATC	0.478000													19	69					3.32936e-07	4.70216e-07	0.175082	1	0
RNPEPL1	57140	broad.mit.edu	37	2	241513651	241513651	+	Missense_Mutation	SNP	G	G	C	rs139059683		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:241513651G>C	ENST00000270357.3	+	5	960	c.367G>C	c.(367-369)Gag>Cag	p.E123Q		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	123					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.E123Q(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		TGTCATCCACGAGGTGGCCCA	0.607000													8	51					0	0	0.047766	0	0
ATRIP	84126	broad.mit.edu	37	3	48501642	48501642	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:48501642G>A	ENST00000412052.1	+	8	1372	c.910G>A	c.(910-912)Gat>Aat	p.D304N	ATRIP_ENST00000320211.3_Missense_Mutation_p.D397N|ATRIP_ENST00000357105.6_Missense_Mutation_p.D270N|ATRIP_ENST00000346691.4_Missense_Mutation_p.D397N	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	397					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	p.D397N(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGCTCACGTGATGGAGACCC	0.547000								Other conserved DNA damage response genes					26	55					0	0	0.099896	0	0
GATA3	2625	broad.mit.edu	37	10	8100386	8100386	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:8100386G>T	ENST00000379328.3	+	3	928	c.360G>T	c.(358-360)acG>acT	p.T120T	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Silent_p.T120T	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	120					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.T120T(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCTCCAAGACGTCCATCCACC	0.697000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						10	76					4.68919e-08	6.88813e-08	0.069234	1	0
LYST	1130	broad.mit.edu	37	1	235915417	235915417	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:235915417T>C	ENST00000389794.3	-	27	7689	c.7515A>G	c.(7513-7515)atA>atG	p.I2505M	LYST_ENST00000389793.2_Missense_Mutation_p.I2505M			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2505					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.I2505M(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTGTAACTGCTATGAAAAGTT	0.313000													6	34					0	0	0.029380	0	0
GGN	199720	broad.mit.edu	37	19	38877550	38877550	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:38877550G>A	ENST00000334928.6	-	3	484	c.352C>T	c.(352-354)Cca>Tca	p.P118S	GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	118	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.P118S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGGGGAACTGGAGTGCCCGCG	0.761000													7	4					0	0	0.029380	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58178443	58178443	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:58178443T>A	ENST00000318316.3	-	10	1373	c.889A>T	c.(889-891)Agg>Tgg	p.R297W	DNASE1L3_ENST00000486455.1_Missense_Mutation_p.R267W|DNASE1L3_ENST00000483681.1_3'UTR|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.R297W			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	297					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	p.R297W(1)		breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GTTTTCTTCCTTAGAGTGACA	0.408000													18	63					0	0	0.175082	0	0
OR4C6	219432	broad.mit.edu	37	11	55433423	55433423	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:55433423G>C	ENST00000314259.3	+	1	810	c.781G>C	c.(781-783)Gtc>Ctc	p.V261L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V261L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GAGGCCTGTGGTCACTCACCC	0.488000													14	73					0	0	0.105934	0	0
OR10A4	283297	broad.mit.edu	37	11	6898719	6898719	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:6898719G>T	ENST00000379829.2	+	1	864	c.841G>T	c.(841-843)Gtg>Ttg	p.V281L		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V281L(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCTTCCACAGTGGTGACTCC	0.512000													10	42					7.03913e-09	1.06605e-08	0.093190	1	0
TTC9C	283237	broad.mit.edu	37	11	62502931	62502931	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62502931G>C	ENST00000316461.4	+	2	626	c.316G>C	c.(316-318)Gat>Cat	p.D106H	TTC9C_ENST00000532583.1_Missense_Mutation_p.D106H|TTC9C_ENST00000513247.2_3'UTR	NM_173810.3	NP_776171.1	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	106							binding	p.D106H(1)		breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						ACGACAGCCTGATAATGCCAA	0.532000													10	42					0	0	0.080935	0	0
PTPRK	5796	broad.mit.edu	37	6	128294835	128294835	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:128294835C>A	ENST00000368227.3	-	29	4524	c.4158G>T	c.(4156-4158)ggG>ggT	p.G1386G	PTPRK_ENST00000368215.3_Silent_p.G1368G|PTPRK_ENST00000368207.3_Silent_p.G1401G|PTPRK_ENST00000368210.3_Silent_p.G1387G|PTPRK_ENST00000532331.1_Silent_p.G1391G|PTPRK_ENST00000368226.4_Silent_p.G1369G|PTPRK_ENST00000368213.5_Silent_p.G1375G			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1368	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.G1369G(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCCGGCCTTCCCCTTCCTCGC	0.483000													15	34					2.32078e-09	3.58889e-09	0.132662	1	0
ADORA3	140	broad.mit.edu	37	1	112042824	112042824	+	Silent	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:112042824A>G	ENST00000241356.4	-	2	1110	c.705T>C	c.(703-705)gtT>gtC	p.V235V	ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	235					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.V235V(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	ACAAGAAAAGAACCAGAAACA	0.433000													9	28					0	0	0.047766	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71555567	71555567	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:71555567G>C	ENST00000265382.3	+	14	1668	c.1363G>C	c.(1363-1365)Gga>Cga	p.G455R	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.G455R	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	455						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	p.G455R(1)		breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CCTAGCCCTGGGATCCCGACA	0.418000													16	84					0	0	0.175082	0	0
CSE1L	1434	broad.mit.edu	37	20	47691870	47691870	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:47691870G>C	ENST00000262982.2	+	12	1271	c.1148G>C	c.(1147-1149)cGc>cCc	p.R383P	CSE1L_ENST00000542325.1_Missense_Mutation_p.R166P|CSE1L_ENST00000396192.3_Missense_Mutation_p.R327P	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	383					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	p.R383P(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GATACTAGACGCAGGGCTGCT	0.373000													13	49					0	0	0.132662	0	0
SEC16B	89866	broad.mit.edu	37	1	177929539	177929539	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:177929539C>A	ENST00000308284.6	-	8	1026		c.e8-1		SEC16B_ENST00000464631.1_Splice_Site|RP4-798P15.3_ENST00000354921.2_Splice_Site|RP4-798P15.3_ENST00000528461.1_Intron	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)						protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		p.?(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TAAGAATAACCTGGAATAAAA	0.453000													5	6					0.000602214	0.000684377	0.184627	1	0
BCL11A	53335	broad.mit.edu	37	2	60689035	60689035	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:60689035G>A	ENST00000335712.6	-	4	1239	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	BCL11A_ENST00000356842.4_Missense_Mutation_p.P338S|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.P304S|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.P304S	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	338	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.P338F(2)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTTTGCATAGGGCTGGGCCGG	0.632000			T	IGH@	B-CLL								11	85					0	0	0.119110	0	0
TANGO6	79613	broad.mit.edu	37	16	68961558	68961558	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:68961558G>A	ENST00000261778.1	+	13	2227	c.2215G>A	c.(2215-2217)Gaa>Aaa	p.E739K	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)									p.E739K(1)|p.E268K(1)									GGTCATCCAAGAACTCGCTGT	0.473000													14	69					0	0	0.105934	0	0
OR2M2	391194	broad.mit.edu	37	1	248343360	248343360	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248343360A>T	ENST00000359682.2	+	1	73	c.73A>T	c.(73-75)Acg>Tcg	p.T25S		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T25S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCCACCACACACGTTCCTCTT	0.498000													41	167					0	0	0.098360	0	0
OR10C1	442194	broad.mit.edu	37	6	29407951	29407951	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:29407951C>T	ENST00000444197.2	+	1	869	c.159C>T	c.(157-159)gcC>gcT	p.A53A	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A53A(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGATGCTGCCCTCCAGTCCC	0.562000													24	55					0	0	0.091800	0	0
ABCB5	340273	broad.mit.edu	37	7	20721224	20721224	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:20721224G>T	ENST00000404938.2	+	15	2456	c.1804G>T	c.(1804-1806)Gag>Tag	p.E602*	ABCB5_ENST00000258738.6_Nonsense_Mutation_p.E157*	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	157	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.E157*(1)|p.E602*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AATGCTGGCGGAGAAAGGAGC	0.448000													16	57					1.33834e-09	2.08502e-09	0.189662	1	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473147	22473147	+	RNA	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:22473147C>G	ENST00000557788.2	-	0	123																											CCAGAGACAACGCAGGTGAGG	0.612000													19	74					0	0	0.189662	0	0
PTPRD	5789	broad.mit.edu	37	9	8518231	8518231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:8518231G>T	ENST00000381196.4	-	18	1703	c.1160C>A	c.(1159-1161)tCg>tAg	p.S387*	PTPRD_ENST00000486161.1_Nonsense_Mutation_p.S387*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.S384*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.S387*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.S387*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.S377*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.S384*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.S374*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.S387*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.S377*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.S374*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	387	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S387*(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)		TTCATAATCCGAGTAGGGACT	0.483000										TSP Lung(15;0.13)			19	83					8.10497e-08	1.18228e-07	0.219247	1	0
PLD1	5337	broad.mit.edu	37	3	171394595	171394595	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:171394595C>A	ENST00000342215.6	-	16	1812	c.1697G>T	c.(1696-1698)gGa>gTa	p.G566V	PLD1_ENST00000356327.5_Silent_p.R637R|PLD1_ENST00000351298.4_Silent_p.R675R|PLD1_ENST00000340989.4_Silent_p.R675R			Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	0	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.R675R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GCCAGGGCATCCGGGGCGTGG	0.542000													19	18					1.22574e-08	1.8487e-08	0.069288	1	0
OR2G2	81470	broad.mit.edu	37	1	247752523	247752523	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:247752523C>G	ENST00000320065.1	+	1	862	c.862C>G	c.(862-864)Ctt>Gtt	p.L288V	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L288V(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)			AACCCGCATGCTTAACCCTCT	0.413000													27	143					0	0	0.134883	0	0
SLC4A3	6508	broad.mit.edu	37	2	220493218	220493218	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:220493218G>C	ENST00000358055.3	+	3	655	c.143G>C	c.(142-144)gGg>gCg	p.G48A	SLC4A3_ENST00000317151.3_Missense_Mutation_p.G48A|SLC4A3_ENST00000373762.3_Missense_Mutation_p.G48A|SLC4A3_ENST00000273063.6_Missense_Mutation_p.G48A|SLC4A3_ENST00000373760.2_Missense_Mutation_p.G48A			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	48					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	p.G48A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCAGGTTTGGGGACCTCATC	0.657000													6	24					0	0	0.217242	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882377	228882377	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:228882377G>T	ENST00000392056.3	-	7	3239	c.3193C>A	c.(3193-3195)Ccc>Acc	p.P1065T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1065T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1065						cytoplasm	protein binding	p.P1065T(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CGATTCCGGGGATAGCCCTGC	0.562000													11	51					0.00185496	0.00205857	0.105934	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147092746	147092746	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:147092746C>A	ENST00000361727.3	+	10	2060	c.1544C>A	c.(1543-1545)cCt>cAt	p.P515H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	515	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P515H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTCCTTCAGCCTTCATTCCAA	0.423000										HNSCC(39;0.1)			28	115					2.81731e-10	4.48445e-10	0.153744	1	0
TSPYL5	85453	broad.mit.edu	37	8	98288962	98288962	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:98288962C>G	ENST00000322128.3	-	1	1214	c.1111G>C	c.(1111-1113)Gaa>Caa	p.E371Q		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	371					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	p.E371Q(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CACAATTCTTCGTTGATTATC	0.468000													34	143					0	0	0.235728	0	0
EVX1	2128	broad.mit.edu	37	7	27285713	27285713	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:27285713C>T	ENST00000496902.4	+	3	1379	c.893C>T	c.(892-894)tCg>tTg	p.S298L	EVX1_ENST00000535619.1_Missense_Mutation_p.S116L|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_3'UTR			P49640	EVX1_HUMAN	even-skipped homeobox 1	298						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S298L(1)		kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						GCCGCCGCCTCGCCCTTCAGC	0.771000													4	5					0	0	0.150653	0	0
RNF133	168433	broad.mit.edu	37	7	122338680	122338680	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:122338680G>A	ENST00000340112.2	-	1	530	c.293C>T	c.(292-294)tCa>tTa	p.S98L	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	98	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	p.S98L(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CCAGGTCTCTGAGTACTTTGA	0.448000													28	182					0	0	0.144211	0	0
CEP290	80184	broad.mit.edu	37	12	88465670	88465670	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:88465670C>A	ENST00000552810.1	-	42	6086	c.5743G>T	c.(5743-5745)Ggt>Tgt	p.G1915C	CEP290_ENST00000397838.3_Missense_Mutation_p.G975C|CEP290_ENST00000309041.7_Missense_Mutation_p.G1917C|CEP290_ENST00000547691.2_Missense_Mutation_p.G975C	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1915					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	p.G1917C(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CACTTTTTACCTTCTTCCCAC	0.318000													5	10					1.23904e-05	1.58364e-05	0.184627	1	0
MROH2B	133558	broad.mit.edu	37	5	41032890	41032890	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:41032890C>A	ENST00000399564.4	-	24	2845	c.2395G>T	c.(2395-2397)Gct>Tct	p.A799S	MROH2B_ENST00000506092.2_Missense_Mutation_p.A354S	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.A799S(1)									ATAGGGCTAGCTAAGGAATCC	0.398000													4	10					0.00024832	0.000293815	0.150653	1	0
VAV3	10451	broad.mit.edu	37	1	108307697	108307697	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:108307697C>A	ENST00000370056.4	-	9	1196		c.e9+1		VAV3_ENST00000343258.4_Splice_Site|VAV3_ENST00000371846.4_Splice_Site|VAV3_ENST00000527011.1_Splice_Site	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor						angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.?(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TAAATAGGCACCTCTAATTTC	0.338000													4	36					0.00909568	0.0096906	0.150653	1	0
OR2AE1	81392	broad.mit.edu	37	7	99474527	99474527	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:99474527G>A	ENST00000316368.2	-	1	153	c.130C>T	c.(130-132)Ctc>Ttc	p.L44F		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L44F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AGAATGGTGAGGGTGTTGCCA	0.498000													16	25					0	0	0.146539	0	0
COL19A1	1310	broad.mit.edu	37	6	70890392	70890392	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:70890392C>A	ENST00000322773.4	+	44	2854	c.2752C>A	c.(2752-2754)Cca>Aca	p.P918T	COL19A1_ENST00000393344.1_Missense_Mutation_p.P540T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	918	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.P918T(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTTCCCTGGACCAGAAGGACC	0.408000													9	24					1.33987e-11	2.21449e-11	0.069234	1	0
OR2G2	81470	broad.mit.edu	37	1	247751823	247751823	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:247751823G>T	ENST00000320065.1	+	1	162	c.162G>T	c.(160-162)ctG>ctT	p.L54L	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L54L(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)			TTTCTCGTCTGGAACCCAAGC	0.428000													23	155					5.45024e-15	9.5233e-15	0.083992	1	0
ICAM5	7087	broad.mit.edu	37	19	10405227	10405227	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:10405227G>T	ENST00000221980.4	+	9	2204	c.2141G>T	c.(2140-2142)cGc>cTc	p.R714L		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	714	Ig-like C2-type 8.				cell-cell adhesion	integral to plasma membrane		p.R714L(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GAGCAGCAGCGCGTGTCCCGA	0.697000													12	7					1.61879e-10	2.60214e-10	0.093190	1	0
COLQ	8292	broad.mit.edu	37	3	15499752	15499752	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:15499752C>A	ENST00000383788.5	-	13	1020	c.895G>T	c.(895-897)Gtg>Ttg	p.V299L	COLQ_ENST00000435459.2_Missense_Mutation_p.V289L|COLQ_ENST00000383781.4_Missense_Mutation_p.V289L|COLQ_ENST00000383786.5_Missense_Mutation_p.V265L|COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000603808.1_Missense_Mutation_p.V299L|COLQ_ENST00000383787.2_Missense_Mutation_p.V290L	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	299					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		p.V299L(1)|p.V289L(1)		endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						GGGTTATTCACATTCATAGTG	0.522000													20	56					5.35356e-11	8.71067e-11	0.076483	1	0
KLHL36	79786	broad.mit.edu	37	16	84690773	84690773	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:84690773G>T	ENST00000564996.1	+	3	501	c.360G>T	c.(358-360)ctG>ctT	p.L120L	KLHL36_ENST00000258157.5_Silent_p.L120L	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	120								p.L120L(1)		endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ACTACGTCCTGGAGACGGCTC	0.607000													12	32					1.5842e-08	2.37955e-08	0.105934	1	0
RELN	5649	broad.mit.edu	37	7	103163867	103163867	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:103163867G>T	ENST00000428762.1	-	47	7620	c.7461C>A	c.(7459-7461)ggC>ggA	p.G2487G	RELN_ENST00000343529.5_Silent_p.G2487G|RELN_ENST00000424685.2_Silent_p.G2487G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2487	EGF-like 6.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.G2487G(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATCTCCCATGGCCACTGCACA	0.458000													16	94					1.37285e-15	2.43657e-15	0.146539	1	0
CYLC2	1539	broad.mit.edu	37	9	105767801	105767801	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:105767801C>A	ENST00000374798.3	+	5	958	c.888C>A	c.(886-888)gcC>gcA	p.A296A	CYLC2_ENST00000487798.1_Silent_p.A296A	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	296	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.A296A(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				agaaggacgccacgaaagatg	0.388000													4	12					0.00909568	0.0096906	0.150653	1	0
DCSTAMP	81501	broad.mit.edu	37	8	105367361	105367361	+	Nonsense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:105367361C>G	ENST00000297581.2	+	3	1335	c.1286C>G	c.(1285-1287)tCa>tGa	p.S429*	DCSTAMP_ENST00000520080.1_3'UTR|DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	429					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.S429*(1)									AAAAAAAGATCAAAGCAGCCG	0.453000													10	43					0	0	0.093190	0	0
CCDC151	115948	broad.mit.edu	37	19	11531872	11531872	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:11531872G>T	ENST00000356392.4	-	12	1686	c.1599C>A	c.(1597-1599)gcC>gcA	p.A533A	CCDC151_ENST00000586836.1_Silent_p.A342A|CCDC151_ENST00000545100.1_Silent_p.A479A|CCDC151_ENST00000591179.1_Silent_p.A473A	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	533								p.A533A(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CCTCTAAGCTGGCGAGGAACT	0.612000													4	6					0.014758	0.0155761	0.184627	1	0
MYO1D	4642	broad.mit.edu	37	17	30986161	30986161	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:30986161C>T	ENST00000318217.5	-	17	2621	c.2317G>A	c.(2317-2319)Gag>Aag	p.E773K	MYO1D_ENST00000579584.1_Missense_Mutation_p.E773K|MYO1D_ENST00000394649.4_Missense_Mutation_p.E685K|RP11-220C2.1_ENST00000582272.1_RNA	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	773						myosin complex	actin binding|ATP binding|calmodulin binding	p.E773K(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			AGGGCCTCCTCAAAACGGCGA	0.517000											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	52					0	0	0.058154	0	0
FAM27L	284123	broad.mit.edu	37	17	21825448	21825448	+	RNA	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:21825448C>T	ENST00000426869.3	+	0	152					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		gacttctccacggggtacaca	0.637000													7	25					0	0	0.038147	0	0
FAM187B	148109	broad.mit.edu	37	19	35719355	35719355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:35719355C>A	ENST00000324675.3	-	1	277	c.229G>T	c.(229-231)Gag>Tag	p.E77*		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	77						integral to membrane		p.E77*(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						AGGCTGCCCTCGGGCATTATT	0.507000													32	36					1.62565e-12	2.73303e-12	0.163468	1	0
NLRP7	199713	broad.mit.edu	37	19	55450962	55450962	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:55450962G>T	ENST00000446217.1	-	6	1711	c.1309C>A	c.(1309-1311)Cgg>Agg	p.R437R	NLRP7_ENST00000448121.2_Silent_p.R409R|NLRP7_ENST00000328092.5_Silent_p.R409R|NLRP7_ENST00000340844.2_Silent_p.R409R|NLRP7_ENST00000592784.1_Silent_p.R409R|NLRP7_ENST00000590030.1_Silent_p.R409R|NLRP7_ENST00000588756.1_Silent_p.R409R			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	409	NACHT.						ATP binding	p.R409R(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGCGCGCCCCGCAGCTGTGCG	0.711000													14	13					8.34094e-07	1.15139e-06	0.204396	1	0
C11orf83	790955	broad.mit.edu	37	11	62439292	62439292	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62439292C>T	ENST00000531323.1	+	2	618	c.75C>T	c.(73-75)ctC>ctT	p.L25L	C11orf83_ENST00000377953.3_Silent_p.L25L			Q6UW78	CK083_HUMAN	chromosome 11 open reading frame 83	25						extracellular region		p.L25L(1)		cervix(1)|lung(1)|prostate(1)	3						ACGCGCTCCTCGTTATCGTGA	0.642000													7	33					0	0	0.029380	0	0
MYO3A	53904	broad.mit.edu	37	10	26310512	26310512	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:26310512G>T	ENST00000265944.5	+	8	832	c.666G>T	c.(664-666)gaG>gaT	p.E222D	MYO3A_ENST00000376302.1_Missense_Mutation_p.E222D|MYO3A_ENST00000543632.1_Missense_Mutation_p.E222D	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	222	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.E222D(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CGGCCATTGAGCTGGGTGATG	0.483000													19	52					1.00905e-13	1.72811e-13	0.204396	1	0
CD3D	915	broad.mit.edu	37	11	118210166	118210166	+	Splice_Site	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:118210166C>G	ENST00000300692.4	-	4	586	c.450_splice	c.e4+1	p.Q150_splice	CD3D_ENST00000392884.2_Splice_Site_p.Q106_splice|CD3D_ENST00000529594.1_Splice_Site_p.Q77_splice	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	150	ITAM.				positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity	p.Q150H(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CAACGCTCACCTGATAGACCT	0.542000													8	46					0	0	0.093190	0	0
KLHL13	90293	broad.mit.edu	37	X	117043381	117043381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:117043381G>A	ENST00000371876.1	-	4	3517	c.1096C>T	c.(1096-1098)Cga>Tga	p.R366*	KLHL13_ENST00000545703.1_Nonsense_Mutation_p.R375*|KLHL13_ENST00000541812.1_Nonsense_Mutation_p.R401*|KLHL13_ENST00000540167.1_Nonsense_Mutation_p.R401*|KLHL13_ENST00000539496.1_Nonsense_Mutation_p.R420*|KLHL13_ENST00000371882.1_Nonsense_Mutation_p.R366*|KLHL13_ENST00000371878.1_Nonsense_Mutation_p.R366*|KLHL13_ENST00000262820.3_Nonsense_Mutation_p.R417*|KLHL13_ENST00000469946.1_Nonsense_Mutation_p.R366*			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	417					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.R417*(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTATTGTATCGAGGATCAAAT	0.413000													16	51					0	0	0.160694	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656313	40656313	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:40656313G>T	ENST00000406785.1	-	2	1297	c.1108C>A	c.(1108-1110)Cgc>Agc	p.R370S	SLC8A1_ENST00000408028.2_Missense_Mutation_p.R370S|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R370S|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R370S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R370S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R370S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R370S|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R370S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R370S|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R370S			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	370					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.R370S(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTCATGAGGCGAGTAGCTTGA	0.428000													21	73					0.000132079	0.000159364	0.204396	1	0
CCR4	1233	broad.mit.edu	37	3	32995815	32995815	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:32995815C>A	ENST00000330953.5	+	2	1069	c.901C>A	c.(901-903)Ccc>Acc	p.P301T		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	301					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		p.P301T(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						CTGCCTTAATCCCATCATCTA	0.478000													15	38					3.27435e-08	4.83404e-08	0.119110	1	0
CCNL1	57018	broad.mit.edu	37	3	156866174	156866174	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:156866174C>A	ENST00000295926.3	-	11	1555	c.1437G>T	c.(1435-1437)cgG>cgT	p.R479R	CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	479					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	p.R479R(1)		NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			CTGAGTGATCCCGAGACTTGC	0.458000													20	195					8.00594e-06	1.04792e-05	0.189662	1	0
CNBD2	140894	broad.mit.edu	37	20	34611601	34611601	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:34611601G>A	ENST00000373973.3	+	11	1520	c.1347G>A	c.(1345-1347)ttG>ttA	p.L449L	CNBD2_ENST00000538900.1_Intron|CNBD2_ENST00000349339.1_Silent_p.L445L					cyclic nucleotide binding domain containing 2									p.L445L(1)									GAAATGAGTTGATACGGATAA	0.438000													14	54					0	0	0.105934	0	0
OR4A16	81327	broad.mit.edu	37	11	55111467	55111467	+	Missense_Mutation	SNP	C	C	A	rs138375517		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:55111467C>A	ENST00000314721.2	+	1	841	c.791C>A	c.(790-792)cCc>cAc	p.P264H		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P264H(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TCCAACTTTCCCTTTGATAAA	0.368000													11	46					4.68919e-08	6.88813e-08	0.069234	1	0
OAS3	4940	broad.mit.edu	37	12	113400594	113400594	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:113400594G>T	ENST00000228928.7	+	9	2150	c.1971G>T	c.(1969-1971)acG>acT	p.T657T	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	657	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	p.T657T(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GCTTCCGGACGGTGCTGGGGC	0.597000													17	78					3.6726e-16	6.57391e-16	0.091800	1	0
UNC13C	440279	broad.mit.edu	37	15	54306940	54306940	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:54306940C>G	ENST00000545554.1	+	1	1840	c.1840C>G	c.(1840-1842)Caa>Gaa	p.Q614E	UNC13C_ENST00000537900.1_Missense_Mutation_p.Q614E|UNC13C_ENST00000260323.11_Missense_Mutation_p.Q614E			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	614					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.Q614E(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCAGGGTATCCAAGGGCAGAC	0.493000													25	38					0	0	0.108266	0	0
OR4D11	219986	broad.mit.edu	37	11	59271184	59271184	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:59271184A>T	ENST00000313253.1	+	1	136	c.136A>T	c.(136-138)Atg>Ttg	p.M46L		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M46L(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CCTCCTCATCATGGTCACCGT	0.483000													17	76					0	0	0.189662	0	0
WNK2	65268	broad.mit.edu	37	9	95992121	95992121	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:95992121G>T	ENST00000297954.4	+	2	825	c.825G>T	c.(823-825)acG>acT	p.T275T	WNK2_ENST00000395475.2_Silent_p.T261T|WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000395477.2_Silent_p.T275T|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_5'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	275	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	p.T261T(1)|p.T275T(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGCTGGTGACGGAGCTGATGA	0.622000													5	10					0.000602214	0.000684377	0.184627	1	0
ZFHX4	79776	broad.mit.edu	37	8	77767836	77767836	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:77767836T>A	ENST00000521891.2	+	10	9127	c.8679T>A	c.(8677-8679)gaT>gaA	p.D2893E	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2848E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2867E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2848E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2848						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D2877E(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGACCCGGATGACAACGCCG	0.493000										HNSCC(33;0.089)			10	35					0	0	0.069234	0	0
ABCC11	85320	broad.mit.edu	37	16	48256510	48256510	+	Splice_Site	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:48256510T>A	ENST00000394747.1	-	5	1125	c.777_splice	c.e5+1	p.E259_splice	ABCC11_ENST00000537808.1_Splice_Site_p.E259_splice|ABCC11_ENST00000356608.2_Splice_Site_p.E259_splice|ABCC11_ENST00000353782.5_Splice_Site_p.E259_splice|ABCC11_ENST00000394748.1_Splice_Site_p.E259_splice	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	259	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.E259V(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GCTGCTTACCTCTCCTGAGGT	0.522000													4	25					0	0	0.150653	0	0
PAN2	9924	broad.mit.edu	37	12	56713716	56713716	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:56713716T>A	ENST00000425394.2	-	21	3266	c.2890A>T	c.(2890-2892)Atg>Ttg	p.M964L	PAN2_ENST00000548043.1_Missense_Mutation_p.M964L|PAN2_ENST00000257931.5_Missense_Mutation_p.M963L|PAN2_ENST00000440411.3_Missense_Mutation_p.M960L	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	964					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	p.M960L(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCATTCAGCATCAGTGGAATA	0.507000													10	33					0	0	0.080935	0	0
FBXW2	26190	broad.mit.edu	37	9	123535119	123535119	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:123535119C>A	ENST00000373926.3	-	6	1007		c.e6-1		FBXW2_ENST00000340778.5_Splice_Site|FBXW2_ENST00000493559.1_Splice_Site	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2						proteolysis		protein binding|ubiquitin-protein ligase activity	p.?(2)		ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						GCAAAACTACCTGCAAATGTA	0.338000													4	17					0.014758	0.0155761	0.184627	1	0
DPYD	1806	broad.mit.edu	37	1	98015157	98015157	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:98015157C>T	ENST00000370192.3	-	12	1583	c.1483G>A	c.(1483-1485)Gat>Aat	p.D495N		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	495					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	p.D495N(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGCTTTCCATCATTCACCGAT	0.408000													16	61					0	0	0.146539	0	0
CACNA1B	774	broad.mit.edu	37	9	140952664	140952664	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:140952664G>A	ENST00000277549.5	+	29	4427	c.1858G>A	c.(1858-1860)Gac>Aac	p.D620N	CACNA1B_ENST00000277551.2_Missense_Mutation_p.D1424N|CACNA1B_ENST00000371355.4_Missense_Mutation_p.D1425N|CACNA1B_ENST00000371357.1_Missense_Mutation_p.D1425N|CACNA1B_ENST00000371372.1_Missense_Mutation_p.D1424N|CACNA1B_ENST00000371363.1_Missense_Mutation_p.D1424N			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1424					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.D1424N(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGAGCAGGGGGACAAGGTGAT	0.537000													19	80					0	0	0.076483	0	0
SMAD1	4086	broad.mit.edu	37	4	146463845	146463845	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:146463845G>A	ENST00000515385.1	+	4	1312	c.770G>A	c.(769-771)aGa>aAa	p.R257K	SMAD1_ENST00000394092.2_Missense_Mutation_p.R257K|SMAD1_ENST00000302085.4_Missense_Mutation_p.R257K			Q15797	SMAD1_HUMAN	SMAD family member 1	257					BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	p.R257K(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					GAAATCAACAGAGGAGGTAAA	0.453000													4	26					0	0	0.184627	0	0
C7orf63	79846	broad.mit.edu	37	7	89874756	89874756	+	Silent	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:89874756C>G	ENST00000389297.4	+	1	269	c.18C>G	c.(16-18)gcC>gcG	p.A6A	C7orf63_ENST00000497910.1_Silent_p.A6A|C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000316089.8_Silent_p.A6A	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	6							binding	p.A6A(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CAGAGGAAGCCGGGGCGACCG	0.677000													25	38					0	0	0.099896	0	0
COL11A1	1301	broad.mit.edu	37	1	103444652	103444652	+	Silent	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:103444652A>T	ENST00000358392.2	-	33	2972	c.2655T>A	c.(2653-2655)gcT>gcA	p.A885A	COL11A1_ENST00000512756.1_Silent_p.A757A|COL11A1_ENST00000353414.4_Silent_p.A834A|COL11A1_ENST00000370096.3_Silent_p.A873A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	873	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.A885A(1)|p.A873A(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGGTTTGCCAGCTACTCCCT	0.403000													4	23					0	0	0.184627	0	0
ST3GAL2	6483	broad.mit.edu	37	16	70415690	70415690	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:70415690C>G	ENST00000393640.4	-	6	3062	c.955G>C	c.(955-957)Gag>Cag	p.E319Q	ST3GAL2_ENST00000342907.2_Missense_Mutation_p.E319Q|RP11-529K1.4_ENST00000566960.1_RNA			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	319					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	p.E319Q(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				TTCCGGAACTCGCCCGCGTAC	0.652000													5	42					0	0	0.217242	0	0
BTBD10	84280	broad.mit.edu	37	11	13427269	13427269	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:13427269C>T	ENST00000278174.5	-	7	1188	c.943G>A	c.(943-945)Gat>Aat	p.D315N	BTBD10_ENST00000528120.1_Missense_Mutation_p.D267N|BTBD10_ENST00000530907.1_Missense_Mutation_p.D323N	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	315						nucleus		p.D315N(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		ACATCATCATCTGTAAGCACC	0.428000													21	81					0	0	0.069288	0	0
BTBD8	284697	broad.mit.edu	37	1	92554427	92554427	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:92554427G>C	ENST00000370382.3	+	2	589	c.322G>C	c.(322-324)Gct>Cct	p.A108P	BTBD8_ENST00000342818.3_Missense_Mutation_p.A108P|BTBD8_ENST00000540648.1_Missense_Mutation_p.A108P			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	108	BTB 1.					nucleus		p.A108P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		GAATGTTGAAGCTTTAGAATT	0.294000													11	25					0	0	0.069234	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798282	148798282	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:148798282C>A	ENST00000355220.5	+	5	1238	c.1136C>A	c.(1135-1137)cCt>cAt	p.P379H	MAGEA11_ENST00000333104.4_Missense_Mutation_p.P350H	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	379	MAGE.					cytoplasm|nucleus	protein binding	p.P379H(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGCACTGATCCTGCATGCTAT	0.557000													34	132					2.68265e-12	4.48085e-12	0.173368	1	0
ZNF215	7762	broad.mit.edu	37	11	6962865	6962865	+	Nonsense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:6962865C>G	ENST00000278319.5	+	4	1052	c.464C>G	c.(463-465)tCa>tGa	p.S155*	ZNF215_ENST00000414517.2_Nonsense_Mutation_p.S155*|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Nonsense_Mutation_p.S155*	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	155					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S155*(1)		NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AAAGCTGGCTCACGAACAGGC	0.408000													6	23					0	0	0.217242	0	0
PLB1	151056	broad.mit.edu	37	2	28816594	28816594	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:28816594C>A	ENST00000422425.2	+	32	2305	c.2261C>A	c.(2260-2262)aCc>aAc	p.T754N	PLB1_ENST00000327757.5_Missense_Mutation_p.T765N|PLB1_ENST00000329020.6_Missense_Mutation_p.T453N	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	765	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.T765N(1)|p.T754N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCCGATGTCACCACACAGTAT	0.483000													6	27					8.12818e-05	9.85601e-05	0.029380	1	0
POTEE	445582	broad.mit.edu	37	2	132021506	132021506	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:132021506C>A	ENST00000356920.5	+	15	2572	c.2478C>A	c.(2476-2478)acC>acA	p.T826T	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	826	Actin-like.						ATP binding	p.T826T(1)									TGTTTGAGACCTTCAACACCC	0.622000													14	128					6.49762e-13	1.09615e-12	0.175082	1	0
TM7SF2	7108	broad.mit.edu	37	11	64883491	64883491	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:64883491G>C	ENST00000279263.7	+	10	1385	c.1223G>C	c.(1222-1224)cGt>cCt	p.R408P	TM7SF2_ENST00000540748.1_Missense_Mutation_p.R292P|TM7SF2_ENST00000345348.5_Missense_Mutation_p.R381P	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	408					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	p.R408P(1)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TACTGCCGGCGTGTGCCTTAC	0.647000													7	22					0	0	0.069234	0	0
SYNE2	23224	broad.mit.edu	37	14	64518958	64518958	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:64518958T>C	ENST00000358025.3	+	48	8557	c.8327T>C	c.(8326-8328)cTa>cCa	p.L2776P	SYNE2_ENST00000344113.4_Missense_Mutation_p.L2776P|SYNE2_ENST00000554584.1_Missense_Mutation_p.L2809P|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2776					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.L2776P(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GATGGCATTCTAGCTAGGCAG	0.443000													19	90					0	0	0.175082	0	0
TTN	7273	broad.mit.edu	37	2	179399169	179399169	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:179399169C>T	ENST00000589042.1	-	358	102397	c.102173G>A	c.(102172-102174)aGg>aAg	p.R34058K	TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31490K|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R32417K|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R25185K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R25118K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R24993K|TTN-AS1_ENST00000589391.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32417							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R25118K(1)|p.R31490K(1)|p.R25185K(1)|p.R31488K(1)|p.R24993K(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)			GCGAGATTTCCTCTCTTTCAC	0.413000													7	63					0	0	0.058154	0	0
CTIF	9811	broad.mit.edu	37	18	46284530	46284530	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:46284530G>C	ENST00000256413.3	+	8	1120	c.825G>C	c.(823-825)atG>atC	p.M275I	CTIF_ENST00000382998.4_Missense_Mutation_p.M275I	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	275	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	p.M227I(1)|p.M275I(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						AAGAGACCATGACCATCGAGA	0.647000													7	29					0	0	0.038147	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576605	158576605	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158576605T>C	ENST00000361284.1	+	1	377	c.377T>C	c.(376-378)aTc>aCc	p.I126T		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I126T(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TATGTGGCCATCTGTGCTCCA	0.527000													15	82					0	0	0.132662	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147259350	147259350	+	Splice_Site	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:147259350G>T	ENST00000361727.3	+	12	2413		c.e12+1			NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.?(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AACATGACAGGTAACTGTGTC	0.393000										HNSCC(39;0.1)			9	64					1.58986e-06	2.1641e-06	0.069234	1	0
NMRK2	27231	broad.mit.edu	37	19	3942236	3942236	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:3942236G>T	ENST00000168977.2	+	8	948	c.658G>T	c.(658-660)Gcc>Tcc	p.A220S	NMRK2_ENST00000599576.1_3'UTR|NMRK2_ENST00000593949.1_Missense_Mutation_p.A225S	NM_170678.2	NP_733778.1			nicotinamide riboside kinase 2									p.A220S(1)									CCACAGAACGGCCAGGCCTGC	0.667000													4	14					0.000602214	0.000684377	0.184627	1	0
BCL9L	283149	broad.mit.edu	37	11	118771514	118771514	+	Missense_Mutation	SNP	C	C	A	rs150094487		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:118771514C>A	ENST00000334801.3	-	6	3902	c.2938G>T	c.(2938-2940)Ggc>Tgc	p.G980C	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	980	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	p.G980C(4)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGGGAGGAGCCGAGGACCTGG	0.637000													7	37					0.000673444	0.000759438	0.069234	1	0
SLC8A1	6546	broad.mit.edu	37	2	40397428	40397428	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:40397428G>T	ENST00000542756.1	-	6	2039	c.2016C>A	c.(2014-2016)acC>acA	p.T672T	SLC8A1_ENST00000408028.2_Silent_p.T669T|SLC8A1_ENST00000332839.4_Silent_p.T677T|SLC8A1_ENST00000403092.1_Silent_p.T677T|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000405901.3_Silent_p.T672T|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000406785.1_Intron|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	677					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.T677T(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TACCTGCAATGGTGATTACAG	0.433000													6	30					5.18039e-06	6.86659e-06	0.038147	1	0
LRBA	987	broad.mit.edu	37	4	151849739	151849739	+	Missense_Mutation	SNP	C	C	G	rs61746090		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:151849739C>G	ENST00000535741.1	-	4	951	c.478G>C	c.(478-480)Gct>Cct	p.A160P	LRBA_ENST00000507224.1_Missense_Mutation_p.A160P|LRBA_ENST00000510413.1_Missense_Mutation_p.A160P|LRBA_ENST00000357115.3_Missense_Mutation_p.A160P			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	160						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.A160P(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTATAGCTAGCCAGCACTCCC	0.338000													5	24					0	0	0.184627	0	0
RAD51AP1	10635	broad.mit.edu	37	12	4665604	4665604	+	Silent	SNP	T	T	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:4665604T>C	ENST00000228843.9	+	9	908	c.858T>C	c.(856-858)acT>acC	p.T286T	RAD51AP1_ENST00000543041.1_Silent_p.T151T|RAD51AP1_ENST00000352618.4_Silent_p.T269T|RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000321524.7_Intron|RAD51AP1_ENST00000544931.1_Intron	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	286					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding	p.T269T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			CAGATACCACTAGGAAACCAT	0.433000													14	43					0	0	0.119110	0	0
LRRK2	120892	broad.mit.edu	37	12	40689247	40689247	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:40689247C>T	ENST00000298910.7	+	23	2955	c.2897C>T	c.(2896-2898)tCc>tTc	p.S966F	LRRK2_ENST00000343742.2_Missense_Mutation_p.S966F	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	966					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.S966F(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAACTTCAATCCCATATGAGG	0.338000													6	47					0	0	0.217242	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046344	69046344	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:69046344C>A	ENST00000295381.3	+	9	1509	c.1090C>A	c.(1090-1092)Cct>Act	p.P364T	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P357T|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P358T|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P358T|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.P58T|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P325T|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P365T	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	364					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.P358T(1)|p.P365T(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CCTGTCACCCCCTGCCCAGAA	0.517000													31	103					1.61788e-16	2.90663e-16	0.163468	1	0
ADCYAP1R1	117	broad.mit.edu	37	7	31125054	31125054	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:31125054C>T	ENST00000304166.4	+	9	955	c.666C>T	c.(664-666)tcC>tcT	p.S222S	ADCYAP1R1_ENST00000409489.1_Silent_p.S222S|ADCYAP1R1_ENST00000409363.1_Silent_p.S201S|ADCYAP1R1_ENST00000396211.2_Silent_p.S222S	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	222					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	p.S222S(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GCTTCATCTCCACTGTGAGTG	0.557000													23	61					0	0	0.099896	0	0
PIGG	54872	broad.mit.edu	37	4	533009	533009	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:533009A>G	ENST00000453061.2	+	13	2909	c.2803A>G	c.(2803-2805)Atc>Gtc	p.I935V	PIGG_ENST00000310340.5_Missense_Mutation_p.I927V|PIGG_ENST00000504346.1_Missense_Mutation_p.I846V|PIGG_ENST00000383028.4_Missense_Mutation_p.I802V|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	935					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	p.I927V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TTTCACGTACATCGTTTTGGT	0.393000													12	67					0	0	0.093190	0	0
ADCY6	112	broad.mit.edu	37	12	49170083	49170083	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:49170083T>A	ENST00000307885.4	-	7	2280	c.1586A>T	c.(1585-1587)gAg>gTg	p.E529V	ADCY6_ENST00000550422.1_Missense_Mutation_p.E529V|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Missense_Mutation_p.E529V	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	529					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.E529V(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TGGCTCCACCTCGTAGTCCCC	0.627000													9	34					0	0	0.058154	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671283	112671283	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:112671283G>T	ENST00000441065.2	+	3	685	c.373G>T	c.(373-375)Gat>Tat	p.D125Y	RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	125	B30.2/SPRY.						zinc ion binding	p.D125Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GATCCACCACGATCTGACAAA	0.542000													12	38					0.000219431	0.000261321	0.119110	1	0
TTC29	83894	broad.mit.edu	37	4	147824814	147824814	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:147824814C>A	ENST00000513335.1	-	7	745	c.546G>T	c.(544-546)aaG>aaT	p.K182N	TTC29_ENST00000325106.4_Missense_Mutation_p.K156N|TTC29_ENST00000398886.4_Missense_Mutation_p.K182N			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	156							binding	p.K156N(1)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCCTTACCCACTTGTCTTCAG	0.403000													3	14					2.56e-06	3.44624e-06	0.150653	1	0
RPH3A	22895	broad.mit.edu	37	12	113314541	113314541	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:113314541C>G	ENST00000389385.4	+	13	1538	c.1041C>G	c.(1039-1041)gaC>gaG	p.D347E	RPH3A_ENST00000420983.2_Missense_Mutation_p.D347E|RPH3A_ENST00000543106.2_Missense_Mutation_p.D347E|RPH3A_ENST00000415485.3_Missense_Mutation_p.D347E|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000548866.1_Missense_Mutation_p.D298E|RPH3A_ENST00000551052.1_Missense_Mutation_p.D343E|RPH3A_ENST00000447659.2_Missense_Mutation_p.D298E	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	347	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.D343E(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCAGAGAGGACCGAATGAGCC	0.682000													6	41					0	0	0.217242	0	0
PASK	23178	broad.mit.edu	37	2	242077446	242077446	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:242077446C>A	ENST00000403638.3	-	6	889	c.798G>T	c.(796-798)ggG>ggT	p.G266G	PASK_ENST00000539818.1_Silent_p.G50G|PASK_ENST00000234040.4_Silent_p.G266G|PASK_ENST00000358649.4_Silent_p.G266G|PASK_ENST00000544142.1_Silent_p.G80G|PASK_ENST00000405260.1_Silent_p.G266G	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	266					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.G266G(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)		CCACGTCCTCCCCAGACACGT	0.567000													7	29					0.0381472	0.0396061	0.038147	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85546088	85546088	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:85546088G>T	ENST00000393217.2	+	20	4421	c.4360G>T	c.(4360-4362)Gat>Tat	p.D1454Y		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1454								p.D1454Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GCTAGCATTAGATTCCACCCG	0.378000													13	65					1.3612e-06	1.86498e-06	0.132662	1	0
PCDH1	5097	broad.mit.edu	37	5	141244261	141244261	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:141244261C>A	ENST00000287008.3	-	3	1782	c.1635G>T	c.(1633-1635)ctG>ctT	p.L545L	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Silent_p.L523L|PCDH1_ENST00000456271.1_Silent_p.L533L|PCDH1_ENST00000394536.3_Silent_p.L545L	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	545	Cadherin 5.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	p.L545L(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GCTCAGGCTCCAGAGAGTAAA	0.552000													14	24					4.3838e-07	6.16761e-07	0.105934	1	0
SGK494	124923	broad.mit.edu	37	17	26938634	26938634	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:26938634C>A	ENST00000301037.5	-	9	761	c.762G>T	c.(760-762)gtG>gtT	p.V254V	SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.4_ENST00000577790.1_Intron|RP11-192H23.4_ENST00000534850.1_3'UTR	NM_001174103.1	NP_001167574.1												p.V254V(1)|p.V293V(1)									CTCCCTGGGGCACGTGGCGGG	0.498000													29	85					3.57733e-08	5.27602e-08	0.144211	1	0
MYOM2	9172	broad.mit.edu	37	8	2044234	2044234	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:2044234A>T	ENST00000262113.4	+	18	2414	c.2273A>T	c.(2272-2274)cAc>cTc	p.H758L	MYOM2_ENST00000523438.1_Missense_Mutation_p.H183L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	758	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle	p.H758L(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAAAACTGGCACGAGGTCAAT	0.498000													6	37					0	0	0.217242	0	0
ARHGAP6	395	broad.mit.edu	37	X	11187695	11187695	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:11187695C>A	ENST00000337414.4	-	9	2611	c.1739G>T	c.(1738-1740)cGg>cTg	p.R580L	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.R377L|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.R389L|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.R580L|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.R612L|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.R405L|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.R377L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	580	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.R580L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTCCTCAGCCCGGGCTGAACT	0.468000													19	51					4.63292e-17	8.35408e-17	0.204396	1	0
DLC1	10395	broad.mit.edu	37	8	13357316	13357316	+	Missense_Mutation	SNP	C	C	A	rs150090193		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:13357316C>A	ENST00000276297.4	-	2	674	c.265G>T	c.(265-267)Gac>Tac	p.D89Y	DLC1_ENST00000511869.1_Missense_Mutation_p.D89Y|DLC1_ENST00000316609.5_Missense_Mutation_p.D89Y	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	89					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.D89Y(5)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCATGGCTGTCATTTTCGTCC	0.443000													44	211					2.46787e-29	4.67429e-29	0.139131	1	0
DCDC1	341019	broad.mit.edu	37	11	30926700	30926700	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:30926700C>A	ENST00000597505.1	-	29	4115	c.4116G>T	c.(4114-4116)tcG>tcT	p.S1372S	DCDC1_ENST00000339794.5_Silent_p.S451S|DCDC1_ENST00000406071.2_Silent_p.S107S			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.S59S(3)|p.S451S(3)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCTTGTCACACGACAAATCAA	0.363000													3	10					6.4e-05	7.87949e-05	0.115264	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110478983	110478983	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:110478983C>A	ENST00000378402.5	+	50	8694	c.8590C>A	c.(8590-8592)Ctt>Att	p.L2864I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2864					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.L2866I(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGATGTGGTTCTTTCAGACTC	0.378000										HNSCC(38;0.096)			5	16					0.000602214	0.000684377	0.184627	1	0
PLG	5340	broad.mit.edu	37	6	161162348	161162348	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:161162348C>T	ENST00000308192.9	+	17	2087	c.2024C>T	c.(2023-2025)gCc>gTc	p.A675V		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	675	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.A675V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTCAGTCCTGCCGTCATCACT	0.527000													7	33					0	0	0.029380	0	0
FSCB	84075	broad.mit.edu	37	14	44973781	44973781	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:44973781G>T	ENST00000340446.4	-	1	2701	c.2410C>A	c.(2410-2412)Cag>Aag	p.Q804K		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	804						cilium		p.Q804K(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)		GTGGGAGCCTGTCCATCATTG	0.358000													8	58					0.000157383	0.000187733	0.038147	1	0
GRPR	2925	broad.mit.edu	37	X	16168633	16168633	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:16168633C>A	ENST00000380289.2	+	2	1017	c.619C>A	c.(619-621)Ccc>Acc	p.P207T		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	207					cell proliferation	integral to plasma membrane	bombesin receptor activity	p.P207T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TGAGCTTCACCCCAAAATCCA	0.463000													16	76					3.45872e-05	4.36734e-05	0.146539	1	0
ABCC5	10057	broad.mit.edu	37	3	183643372	183643372	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:183643372C>A	ENST00000334444.6	-	29	4423	c.4183G>T	c.(4183-4185)Gat>Tat	p.D1395Y	ABCC5_ENST00000265586.6_Missense_Mutation_p.D1352Y	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1395	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.D1395Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATAATCCTATCGGAGCCTAGA	0.542000													7	48					8.12818e-05	9.85601e-05	0.029380	1	0
RPIA	22934	broad.mit.edu	37	2	89037542	89037542	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:89037542G>C	ENST00000283646.4	+	8	842	c.787G>C	c.(787-789)Gac>Cac	p.D263H		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	263					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	p.D263H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				CTGGAAGTTTGACCGGGTACA	0.438000													16	50					0	0	0.219247	0	0
KCNB1	3745	broad.mit.edu	37	20	47989936	47989936	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:47989936G>T	ENST00000371741.4	-	2	2327	c.2161C>A	c.(2161-2163)Cca>Aca	p.P721T		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	721					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.P721T(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAGGACTCTGGGCTCAGCACA	0.582000													12	31					4.36969e-10	6.90298e-10	0.105934	1	0
SERTAD3	29946	broad.mit.edu	37	19	40947909	40947909	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:40947909G>A	ENST00000322354.3	-	2	575	c.79C>T	c.(79-81)Cag>Tag	p.Q27*	SERTAD3_ENST00000392028.4_Nonsense_Mutation_p.Q27*	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	27	SERTA.				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.Q27*(1)		kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGTAGCTCTGAAGGCCTGCT	0.592000													6	9					0	0	0.038147	0	0
POSTN	10631	broad.mit.edu	37	13	38160919	38160919	+	Splice_Site	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr13:38160919T>A	ENST00000379747.4	-	6	870	c.753_splice	c.e6+1	p.R251_splice	POSTN_ENST00000379749.4_Splice_Site_p.R251_splice|POSTN_ENST00000379743.4_Splice_Site_p.R251_splice|POSTN_ENST00000541481.1_Splice_Site_p.R251_splice|POSTN_ENST00000379742.4_Splice_Site_p.R251_splice|POSTN_ENST00000541179.1_Splice_Site_p.R251_splice	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	251	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	p.R251S(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTGGACTTACTCTAAAAGATG	0.358000													8	24					0	0	0.069234	0	0
FSHR	2492	broad.mit.edu	37	2	49190937	49190937	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:49190937C>T	ENST00000406846.2	-	10	1142	c.1023G>A	c.(1021-1023)gtG>gtA	p.V341V	FSHR_ENST00000541117.1_Silent_p.V77V|FSHR_ENST00000304421.4_Silent_p.V315V|FSHR_ENST00000346173.3_Silent_p.V279V	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	341					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.V341V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCACGTCAACCACTTCATTGC	0.473000									Gonadal Dysgenesis, 46 XX				12	77					0	0	0.080935	0	0
BCR	613	broad.mit.edu	37	22	23524070	23524070	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:23524070G>T	ENST00000305877.8	+	1	1674	c.923G>T	c.(922-924)cGc>cTc	p.R308L	BCR_ENST00000359540.3_Missense_Mutation_p.R308L|BCR_ENST00000398512.5_Missense_Mutation_p.R308L	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	308	Binding to ABL SH2-domain.|Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.R308L(1)	BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CAGGAGAAGCGCCTTACCTGG	0.642000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								5	16					0.014758	0.0155761	0.184627	1	0
MPHOSPH6	10200	broad.mit.edu	37	16	82197792	82197792	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:82197792T>G	ENST00000258169.4	-	2	109	c.59A>C	c.(58-60)cAa>cCa	p.Q20P	MPHOSPH6_ENST00000569021.1_Missense_Mutation_p.Q20P|MPHOSPH6_ENST00000563504.1_Missense_Mutation_p.Q2P|MPHOSPH6_ENST00000567729.1_5'UTR	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	20					M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding	p.Q20P(1)		endometrium(1)|large_intestine(1)|lung(3)	5						CAGTCCCCTTTGCATAAACTG	0.363000													8	44					0	0	0.047766	0	0
TSR2	90121	broad.mit.edu	37	X	54467179	54467179	+	Silent	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:54467179G>C	ENST00000375151.4	+	2	159	c.138G>C	c.(136-138)ctG>ctC	p.L46L		NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)	46					rRNA processing		protein binding	p.L46L(1)		breast(1)|endometrium(3)|lung(2)	6						CCAAGTGGCTGGGGGGTGCAG	0.617000													5	18					0	0	0.184627	0	0
CEP350	9857	broad.mit.edu	37	1	179981084	179981084	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:179981084A>G	ENST00000367607.3	+	9	1685	c.1267A>G	c.(1267-1269)Aca>Gca	p.T423A		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	423						centrosome|nucleus|spindle		p.T423A(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCTTATAAGTACATCTTCTTG	0.353000													3	12					0	0	0.150653	0	0
IL7R	3575	broad.mit.edu	37	5	35873708	35873708	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:35873708C>A	ENST00000303115.3	+	5	793	c.664C>A	c.(664-666)Cca>Aca	p.P222T	IL7R_ENST00000506850.1_Missense_Mutation_p.P222T|IL7R_ENST00000343305.4_Missense_Mutation_p.P222T	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	222	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.P222T(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGAATGGAGTCCAAGTTATTA	0.433000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						22	55					6.44725e-10	1.01631e-09	0.069288	1	0
OTOA	146183	broad.mit.edu	37	16	21698943	21698943	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:21698943C>G	ENST00000388958.3	+	7	610	c.609C>G	c.(607-609)gaC>gaG	p.D203E	OTOA_ENST00000388956.4_Missense_Mutation_p.D124E|OTOA_ENST00000286149.4_Missense_Mutation_p.D203E	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	203					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.D203E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TCCCTCGGGACCTGCGCGAGG	0.542000													4	19					0	0	0.150653	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28315712	28315712	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr21:28315712C>T	ENST00000284987.5	-	3	1513	c.1392G>A	c.(1390-1392)ctG>ctA	p.L464L		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	464	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.L464L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GGCCATCATCCAGGAATTCTG	0.403000													11	13					0	0	0.069234	0	0
HSD3B2	3284	broad.mit.edu	37	1	119965140	119965140	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:119965140A>G	ENST00000543831.1	+	4	1265	c.1016A>G	c.(1015-1017)tAt>tGt	p.Y339C	HSD3B2_ENST00000369416.3_Missense_Mutation_p.Y339C	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	339					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.Y339C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GATCTGGCGTATAAGCCACTC	0.512000													6	26					0	0	0.038147	0	0
NPAP1	23742	broad.mit.edu	37	15	24924327	24924327	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:24924327G>A	ENST00000329468.2	+	1	3787	c.3313G>A	c.(3313-3315)Gat>Aat	p.D1105N		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.D1105N(1)									TATGGGAGGGGATGGCACCAG	0.493000													38	65					0	0	0.193644	0	0
PUM2	23369	broad.mit.edu	37	2	20463123	20463123	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:20463123T>G	ENST00000361078.2	-	13	2078	c.2056A>C	c.(2056-2058)Agc>Cgc	p.S686R	PUM2_ENST00000338086.5_Missense_Mutation_p.S686R|PUM2_ENST00000403432.1_Missense_Mutation_p.S686R|PUM2_ENST00000536417.1_Missense_Mutation_p.S630R|PUM2_ENST00000319801.5_Missense_Mutation_p.S607R			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	686	Ser-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	p.S686R(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTGGCTGCTGGAGCTAAAT	0.463000													12	43					0	0	0.093190	0	0
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													7	82					0	0	0.029380	0	0
IER5	51278	broad.mit.edu	37	1	181058930	181058930	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:181058930G>T	ENST00000367577.4	+	1	1293	c.892G>T	c.(892-894)Ggt>Tgt	p.G298C		NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	298								p.G298C(1)		lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						AGAGGAGAGCGGTCCGGAAGC	0.627000													5	16					1.23904e-05	1.58364e-05	0.184627	1	0
CEACAM19	56971	broad.mit.edu	37	19	45183600	45183600	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:45183600G>T	ENST00000358777.4	+	5	1180	c.700G>T	c.(700-702)Gat>Tat	p.D234Y	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000403660.3_Missense_Mutation_p.D234Y|CEACAM19_ENST00000480278.1_3'UTR	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	234						integral to membrane		p.D234Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CCCTGCTCATGATGCTGGTAA	0.557000													20	32					5.26018e-13	8.89437e-13	0.234183	1	0
GPR32	2854	broad.mit.edu	37	19	51273984	51273984	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:51273984C>G	ENST00000270590.4	+	1	264	c.127C>G	c.(127-129)Cgc>Ggc	p.R43G		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	43						integral to plasma membrane	N-formyl peptide receptor activity	p.R43G(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGGGTCCCTCCGCCCACTGAC	0.592000													19	14					0	0	0.189662	0	0
OR14K1	343170	broad.mit.edu	37	1	247902020	247902020	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:247902020C>A	ENST00000283225.2	+	1	104	c.104C>A	c.(103-105)aCg>aAg	p.T35K	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1									p.T35K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						ATCTACCTCACGGCTGTGCTG	0.448000													37	44					3.93418e-24	7.40374e-24	0.203993	1	0
FAM78B	149297	broad.mit.edu	37	1	166039586	166039586	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:166039586C>G	ENST00000338353.3	-	3	1267	c.678G>C	c.(676-678)atG>atC	p.M226I	FAM78B_ENST00000354422.3_Missense_Mutation_p.M226I			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	226								p.M226I(1)		central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GGATGGGTTCCATCCGGCTCA	0.627000													14	87					0	0	0.105934	0	0
UBR1	197131	broad.mit.edu	37	15	43348568	43348568	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:43348568C>A	ENST00000290650.4	-	11	1333	c.1255G>T	c.(1255-1257)Gtt>Ttt	p.V419F	UBR1_ENST00000382177.2_Missense_Mutation_p.V419F	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	419					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	p.V419F(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AACATCTGAACTGAAAGTGCA	0.294000													40	34					5.44703e-19	1.00445e-18	0.111260	1	0
SLC8A2	6543	broad.mit.edu	37	19	47969343	47969343	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:47969343C>G	ENST00000236877.6	-	2	713	c.318G>C	c.(316-318)gaG>gaC	p.E106D	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	106					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.E106D(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TGATGGTGATCTCCTTCTCTT	0.572000													18	37					0	0	0.204396	0	0
SRFBP1	153443	broad.mit.edu	37	5	121356095	121356095	+	Missense_Mutation	SNP	C	C	T	rs78373051	by1000genomes	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:121356095C>T	ENST00000339397.4	+	6	737	c.665C>T	c.(664-666)cCt>cTt	p.P222L		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		p.P222L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		CAGAAGACACCTGCTGACCCA	0.413000													14	42					0	0	0.132662	0	0
MAPK8	5599	broad.mit.edu	37	10	49628332	49628332	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:49628332G>A	ENST00000374189.1	+	6	766	c.585G>A	c.(583-585)gaG>gaA	p.E195E	MAPK8_ENST00000360332.3_Silent_p.E195E|MAPK8_ENST00000374174.1_Silent_p.E195E|MAPK8_ENST00000395611.3_Silent_p.E195E|MAPK8_ENST00000374182.3_Silent_p.E195E			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	195	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding	p.E195E(2)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		GAGCACCCGAGGTCATCCTTG	0.403000													12	81					0	0	0.119110	0	0
HNRNPF	3185	broad.mit.edu	37	10	43882617	43882617	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:43882617C>A	ENST00000443950.2	-	3	1202	c.716G>T	c.(715-717)gGc>gTc	p.G239V	HNRNPF_ENST00000357065.4_Missense_Mutation_p.G239V|HNRNPF_ENST00000337970.3_Missense_Mutation_p.G239V|HNRNPF_ENST00000544000.1_Missense_Mutation_p.G239V|HNRNPF_ENST00000356053.3_Missense_Mutation_p.G239V	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	239					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.G239V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						GCCCCCGTAGCCTGTGCTGTA	0.617000													9	33					0.000274275	0.000320388	0.047766	1	0
CYP46A1	10858	broad.mit.edu	37	14	100182205	100182205	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:100182205G>T	ENST00000554176.1	+	3	959	c.293G>T	c.(292-294)cGc>cTc	p.R98L	CYP46A1_ENST00000261835.3_Missense_Mutation_p.R251L|CYP46A1_ENST00000423126.2_Missense_Mutation_p.R154L			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	251					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	p.R251L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CGCTTCCTGCGCCAGGTGGGC	0.612000													4	30					0.00909568	0.0096906	0.150653	1	0
PRKCE	5581	broad.mit.edu	37	2	46378245	46378245	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:46378245G>A	ENST00000306156.3	+	13	2124	c.1797G>A	c.(1795-1797)gaG>gaA	p.E599E		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	599	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	p.E599E(1)	MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			TGATGTACGAGATGATGGCTG	0.572000													3	13					0	0	0.115264	0	0
BAGE2	85319	broad.mit.edu	37	21	11049609	11049609	+	RNA	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr21:11049609G>T	ENST00000470054.1	-	0	499									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGCACAGTTTGCATCTTCCTT	0.378000													8	122					5.4927e-09	8.36169e-09	0.047766	1	0
CD274	29126	broad.mit.edu	37	9	5465513	5465513	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:5465513C>T	ENST00000381577.3	+	5	783	c.697C>T	c.(697-699)Cat>Tat	p.H233Y	CD274_ENST00000498261.1_3'UTR|CD274_ENST00000381573.4_Missense_Mutation_p.H119Y	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	233					cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity	p.H233Y(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		ACCTCTGGCACATCCTCCAAA	0.388000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								7	28					0	0	0.038147	0	0
CT47B1	643311	broad.mit.edu	37	X	120009270	120009270	+	Silent	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:120009270T>A	ENST00000371311.3	-	1	509	c.255A>T	c.(253-255)tcA>tcT	p.S85S		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	85								p.S85S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCCCGATATCTGAGTCCTCCT	0.726000													7	19					0	0	0.038147	0	0
SH2D3C	10044	broad.mit.edu	37	9	130511549	130511549	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:130511549G>A	ENST00000314830.8	-	5	1193	c.1080C>T	c.(1078-1080)gtC>gtT	p.V360V	SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373274.3_Silent_p.V200V|SH2D3C_ENST00000373276.3_Silent_p.V292V|SH2D3C_ENST00000373277.4_Silent_p.V203V|SH2D3C_ENST00000429553.1_Silent_p.V6V|SH2D3C_ENST00000420366.1_Silent_p.V202V	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	360					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.V360V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGGTCATGGTGACGCTGCGCC	0.642000													8	34					0	0	0.047766	0	0
FAT1	2195	broad.mit.edu	37	4	187542468	187542468	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:187542468C>G	ENST00000441802.2	-	10	5481	c.5272G>C	c.(5272-5274)Gag>Cag	p.E1758Q		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1758	Cadherin 15.				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.E1761Q(1)|p.E1758Q(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						TTGTCATTCTCATCCTGCAAG	0.428000										HNSCC(5;0.00058)			8	52					0	0	0.047766	0	0
UBXN1	51035	broad.mit.edu	37	11	62446042	62446042	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:62446042C>A	ENST00000294119.2	-	3	276	c.145G>T	c.(145-147)Gac>Tac	p.D49Y	UBXN1_ENST00000301935.5_Missense_Mutation_p.D49Y|UBXN1_ENST00000529640.1_Missense_Mutation_p.D49Y|UBXN1_ENST00000524762.1_5'UTR	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	49	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	p.D49Y(1)		endometrium(5)|lung(12)	17						AAAGGCTCGTCCACATCGGGG	0.632000													5	39					0.000157383	0.000187733	0.038147	1	0
SI	6476	broad.mit.edu	37	3	164777759	164777759	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:164777759G>T	ENST00000264382.3	-	10	1139	c.1077C>A	c.(1075-1077)cgC>cgA	p.R359R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	359	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.R359R(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TATAATTCCAGCGACTTAGTT	0.373000										HNSCC(35;0.089)			77	120					2.10938e-32	4.0265e-32	0.139131	1	0
AEBP1	165	broad.mit.edu	37	7	44153462	44153462	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:44153462C>A	ENST00000223357.3	+	21	3384	c.3079C>A	c.(3079-3081)Ctg>Atg	p.L1027M	AEBP1_ENST00000450684.2_Missense_Mutation_p.L602M	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1027	Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L1027M(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						ACAACACCGCCTGCGGCTTCG	0.687000													16	49					8.34094e-07	1.15139e-06	0.204396	1	0
DACT1	51339	broad.mit.edu	37	14	59112625	59112625	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:59112625C>T	ENST00000395153.3	+	4	1320	c.1173C>T	c.(1171-1173)gcC>gcT	p.A391A	DACT1_ENST00000556859.1_Silent_p.A147A|DACT1_ENST00000395151.3_Silent_p.A147A|DACT1_ENST00000541264.2_Silent_p.A147A|DACT1_ENST00000335867.4_Silent_p.A428A	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	428					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.A428A(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCGAACAAGCCGAAAGCAAGA	0.597000													6	29					0	0	0.029380	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767679	31767679	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:31767679G>T	ENST00000240587.4	-	2	3347	c.3020C>A	c.(3019-3021)tCc>tAc	p.S1007Y		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1007					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S824Y(1)|p.S1007Y(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGACAGTTTGGATAAGTCCCG	0.507000													20	29					1.55795e-14	2.6997e-14	0.234183	1	0
ZNF773	374928	broad.mit.edu	37	19	58018006	58018006	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:58018006G>A	ENST00000282292.4	+	4	683	c.543G>A	c.(541-543)agG>agA	p.R181R	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Silent_p.R180R|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R181R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CCAAAAGTAGGGAGGCCTTTC	0.478000													14	17					0	0	0.119110	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504190	151504190	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:151504190C>A	ENST00000317605.4	+	1	1114	c.9C>A	c.(7-9)gcC>gcA	p.A3A	LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	3					nervous system development	nucleus		p.A3A(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		ACATGATCGCCGCTCAGGCCA	0.597000													8	16					5.18039e-06	6.86659e-06	0.038147	1	0
PCDH15	65217	broad.mit.edu	37	10	56138669	56138669	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:56138669C>A	ENST00000373965.2	-	4	585	c.191G>T	c.(190-192)gGg>gTg	p.G64V	PCDH15_ENST00000414778.1_Missense_Mutation_p.G69V|PCDH15_ENST00000395442.1_Missense_Mutation_p.G64V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.G42V|PCDH15_ENST00000395432.2_Missense_Mutation_p.G64V|PCDH15_ENST00000320301.6_Missense_Mutation_p.G64V|PCDH15_ENST00000395445.1_Missense_Mutation_p.G64V|PCDH15_ENST00000395446.1_Missense_Mutation_p.G64V|PCDH15_ENST00000395430.1_Missense_Mutation_p.G64V|PCDH15_ENST00000361849.3_Missense_Mutation_p.G64V|PCDH15_ENST00000373955.1_Missense_Mutation_p.G64V|PCDH15_ENST00000437009.1_Missense_Mutation_p.G64V|PCDH15_ENST00000373957.3_Missense_Mutation_p.G42V|PCDH15_ENST00000395440.1_Missense_Mutation_p.G64V|PCDH15_ENST00000395438.1_Missense_Mutation_p.G64V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	64	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.G64V(3)|p.G69V(2)		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)				TCCAGCAGTCCCTTTGATCAG	0.403000										HNSCC(58;0.16)			44	121					8.04919e-23	1.50704e-22	0.139131	1	0
SYT15	83849	broad.mit.edu	37	10	46962009	46962009	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:46962009C>T	ENST00000374323.3	-	7	1973	c.1386G>A	c.(1384-1386)gtG>gtA	p.V462V	SYT15_ENST00000374325.3_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Silent_p.V409V|SYT15_ENST00000503753.1_Intron			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	409						integral to membrane|plasma membrane		p.V409V(1)		cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GCCAGCGCTTCACCAGCTCCT	0.667000													9	64					0	0	0.069234	0	0
TG	7038	broad.mit.edu	37	8	133881999	133881999	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:133881999C>G	ENST00000220616.4	+	3	242	c.202C>G	c.(202-204)Cgc>Ggc	p.R68G	TG_ENST00000377869.1_Missense_Mutation_p.R68G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	68	Thyroglobulin type-1 1.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.R68G(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAACGACGGCCGCTCCTGCTG	0.652000													5	44					0	0	0.038147	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30883196	30883196	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:30883196G>A	ENST00000251071.5	-	7	1831	c.1081C>T	c.(1081-1083)Cag>Tag	p.Q361*	CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000298892.5_Nonsense_Mutation_p.Q361*|CAPRIN2_ENST00000417045.1_Nonsense_Mutation_p.Q361*|CAPRIN2_ENST00000308433.5_Nonsense_Mutation_p.Q28*|CAPRIN2_ENST00000395805.2_Nonsense_Mutation_p.Q361*	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	361					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	p.Q361*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ATCTCTGGCTGGGCAAATTCC	0.363000													6	29					0	0	0.217242	0	0
FAT2	2196	broad.mit.edu	37	5	150932774	150932774	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:150932774C>A	ENST00000261800.5	-	5	4132	c.4120G>T	c.(4120-4122)Gag>Tag	p.E1374*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1374	Cadherin 12.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.E1374*(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTCTGCCCTCTACGCTGATG	0.577000													11	41					3.07112e-06	4.11541e-06	0.080935	1	0
KEAP1	9817	broad.mit.edu	37	19	10610415	10610415	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:10610415C>A	ENST00000171111.5	-	2	842	c.295G>T	c.(295-297)Gtg>Ttg	p.V99L	KEAP1_ENST00000393623.2_Missense_Mutation_p.V99L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	99	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.V99L(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GAGGCCAGCACCACCTTGTGG	0.612000													19	17					7.45023e-12	1.23973e-11	0.219247	1	0
NTRK2	4915	broad.mit.edu	37	9	87486716	87486716	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:87486716C>T	ENST00000304053.6	+	15	2129	c.1646C>T	c.(1645-1647)tCc>tTc	p.S549F	NTRK2_ENST00000323115.4_Intron|NTRK2_ENST00000376214.1_Intron|NTRK2_ENST00000277120.3_Intron|NTRK2_ENST00000376208.1_Missense_Mutation_p.S533F|NTRK2_ENST00000376213.1_Intron	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	0	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	p.S549F(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CCCAGAGGTTCCCCCAAGACC	0.483000										TSP Lung(25;0.17)			39	128					0	0	0.214465	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960378	117960378	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:117960378G>T	ENST00000310164.2	+	4	1678	c.1171G>T	c.(1171-1173)Gcc>Tcc	p.A391S		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.A391S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GTCAAGAGTGGCCCCTGGCGA	0.493000													6	37					5.9392e-07	8.30808e-07	0.217242	1	0
CACNA1E	777	broad.mit.edu	37	1	181680202	181680202	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:181680202G>C	ENST00000526775.1	+	8	1333	c.1168G>C	c.(1168-1170)Gca>Cca	p.A390P	CACNA1E_ENST00000360108.3_Missense_Mutation_p.A390P|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A390P|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A390P|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A341P|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A341P	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	390	Binding to the beta subunit (By similarity).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A390P(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GATAGACAAAGCAGGTAGGCC	0.607000													5	46					0	0	0.184627	0	0
POLR3B	55703	broad.mit.edu	37	12	106895214	106895214	+	Splice_Site	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:106895214G>C	ENST00000228347.4	+	26	3320	c.3098_splice	c.e26+1	p.R1033_splice	RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Splice_Site_p.R975_splice	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1033					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.R1033T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GTCCTTACCAGGTAAGAGAAA	0.438000													6	20					0	0	0.217242	0	0
USP9X	8239	broad.mit.edu	37	X	41000658	41000658	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:41000658G>C	ENST00000324545.7	+	9	1768	c.1135G>C	c.(1135-1137)Gag>Cag	p.E379Q	USP9X_ENST00000378308.2_Missense_Mutation_p.E379Q	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	379					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.E372Q(1)|p.E379Q(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGAGGAGGAAGAGTGGCTCAC	0.363000													6	31					0	0	0.217242	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074328	106074328	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:106074328C>A	ENST00000278071.2	-	3	1934	c.1482G>T	c.(1480-1482)gtG>gtT	p.V494V	ITPRIP_ENST00000337478.1_Silent_p.V494V|ITPRIP_ENST00000358187.2_Silent_p.V494V	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	494						plasma membrane		p.V494V(1)		breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CGGCCCTGAGCACGGCCTCAG	0.587000													13	51					1.3612e-06	1.86498e-06	0.132662	1	0
UGT2B11	10720	broad.mit.edu	37	4	70071210	70071210	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:70071210T>G	ENST00000446444.1	-	4	1086	c.1078A>C	c.(1078-1080)Aat>Cat	p.N360H	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	360					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.N360H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AGAAGGTCATTCTGGGGTATC	0.378000													7	69					0	0	0.029380	0	0
BEST3	144453	broad.mit.edu	37	12	70072552	70072552	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:70072552G>A	ENST00000330891.5	-	5	829	c.603C>T	c.(601-603)atC>atT	p.I201I	BEST3_ENST00000331471.4_Silent_p.I201I|BEST3_ENST00000553096.1_Silent_p.I95I|BEST3_ENST00000488961.1_Silent_p.I39I|BEST3_ENST00000476098.1_Silent_p.I39I	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	201						chloride channel complex|plasma membrane	chloride channel activity	p.I201I(1)|p.I39I(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CACTGTCTCTGATTCTACCTT	0.373000													19	49					0	0	0.069288	0	0
IPO4	79711	broad.mit.edu	37	14	24656934	24656934	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr14:24656934C>A	ENST00000354464.6	-	5	523	c.347G>T	c.(346-348)tGg>tTg	p.W116L	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	116					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	p.W116L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		AAGCTGTGGCCAGGCCTCCAA	0.592000													14	53					7.93312e-07	1.0982e-06	0.119110	1	0
ERGIC3	51614	broad.mit.edu	37	20	34144838	34144838	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:34144838A>G	ENST00000348547.2	+	11	1051	c.974A>G	c.(973-975)tAt>tGt	p.Y325C	ERGIC3_ENST00000279052.6_Missense_Mutation_p.Y330C|ERGIC3_ENST00000447986.1_Missense_Mutation_p.Y340C|ERGIC3_ENST00000357394.4_Missense_Mutation_p.Y330C	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	325					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding	p.Y330C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TTCGTCCTCTATGAGCTCTCG	0.602000													4	45					0	0	0.150653	0	0
CRB2	286204	broad.mit.edu	37	9	126136903	126136903	+	Silent	SNP	C	C	A	rs148933240	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr9:126136903C>A	ENST00000373631.3	+	11	3436	c.3435C>A	c.(3433-3435)ctC>ctA	p.L1145L	CRB2_ENST00000373629.2_Silent_p.L813L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	1145	EGF-like 14.					extracellular region|integral to membrane|plasma membrane	calcium ion binding	p.L1145L(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TCACCTGCCTCGATGGCAGCC	0.657000													10	24					0.00621372	0.00666372	0.058154	1	0
PAK7	57144	broad.mit.edu	37	20	9560986	9560986	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:9560986T>A	ENST00000378429.3	-	5	1342	c.796A>T	c.(796-798)Agg>Tgg	p.R266W	PAK7_ENST00000378423.1_Missense_Mutation_p.R266W|PAK7_ENST00000353224.5_Missense_Mutation_p.R266W	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	266	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.R266W(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTTGGCCTCCTGTCATAGTCA	0.572000													11	41					0	0	0.069234	0	0
SUSD4	55061	broad.mit.edu	37	1	223400986	223400986	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:223400986G>T	ENST00000343846.3	-	6	1644	c.1011C>A	c.(1009-1011)gtC>gtA	p.V337V	SUSD4_ENST00000366878.4_Silent_p.V337V|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Silent_p.V177V			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	337						integral to membrane		p.V337V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TGGCCAGGATGACGAGCAGCA	0.582000													8	20					5.4927e-09	8.36169e-09	0.047766	1	0
RPL4	6124	broad.mit.edu	37	15	66792653	66792653	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:66792653G>T	ENST00000307961.6	-	8	987	c.895C>A	c.(895-897)Caa>Aaa	p.Q299K	RPL4_ENST00000568588.1_Missense_Mutation_p.Q205K	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	299					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	p.Q299K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						AGGGCTCTTTGGATCTCTGGG	0.378000													25	46					3.7963e-18	6.95673e-18	0.083992	1	0
MYO3A	53904	broad.mit.edu	37	10	26359099	26359099	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:26359099G>T	ENST00000265944.5	+	13	1396	c.1230G>T	c.(1228-1230)atG>atT	p.M410I	MYO3A_ENST00000543632.1_Missense_Mutation_p.M410I	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	410	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.M410I(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTTTTGCAATGGCTGACTTAG	0.328000													8	40					5.18039e-06	6.86659e-06	0.038147	1	0
POTEA	340441	broad.mit.edu	37	8	43211911	43211911	+	RNA	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:43211911G>T	ENST00000522175.2	+	0	1234							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.S457I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GATTCTGCTAGCCTATCAAAA	0.373000													9	56					0.000274275	0.000320388	0.047766	1	0
PALMD	54873	broad.mit.edu	37	1	100155280	100155280	+	Silent	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:100155280T>A	ENST00000263174.4	+	7	1839	c.1464T>A	c.(1462-1464)gcT>gcA	p.A488A	PALMD_ENST00000605497.1_Silent_p.A488A	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	488					regulation of cell shape	cytoplasm|membrane		p.A488A(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GATCAGAAGCTAGTCCTCATG	0.468000													8	29					0	0	0.038147	0	0
TCP10L2	401285	broad.mit.edu	37	6	167591995	167591995	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:167591995G>T	ENST00000366832.2	+	5	753	c.622G>T	c.(622-624)Ggt>Tgt	p.G208C		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	208								p.G208C(2)		endometrium(1)|kidney(2)|lung(3)	6						GCCGACTCCCGGTGCAGAAAG	0.522000													13	50					4.7546e-09	7.30634e-09	0.146539	1	0
RYR3	6263	broad.mit.edu	37	15	33925287	33925287	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr15:33925287G>A	ENST00000389232.4	+	24	3075	c.3005G>A	c.(3004-3006)gGa>gAa	p.G1002E	RYR3_ENST00000415757.3_Missense_Mutation_p.G1002E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1002	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G1002E(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATAAAACAAGGATGGACCTAT	0.413000													12	24					0	0	0.105934	0	0
OR52J3	119679	broad.mit.edu	37	11	5067999	5067999	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:5067999C>T	ENST00000380370.1	+	1	244	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R82C(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCTGTGCCTCGCATGCTGGG	0.498000													13	15					0	0	0.119110	0	0
FGFR2	2263	broad.mit.edu	37	10	123274659	123274659	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:123274659T>A	ENST00000358487.5	-	9	1531	c.1259A>T	c.(1258-1260)aAa>aTa	p.K420I	FGFR2_ENST00000457416.2_Missense_Mutation_p.K421I|FGFR2_ENST00000478859.1_Missense_Mutation_p.K192I|FGFR2_ENST00000356226.4_Missense_Mutation_p.K305I|FGFR2_ENST00000346997.2_Missense_Mutation_p.K420I|FGFR2_ENST00000369059.1_Missense_Mutation_p.K306I|FGFR2_ENST00000351936.6_Missense_Mutation_p.K420I|FGFR2_ENST00000357555.5_Missense_Mutation_p.K331I|FGFR2_ENST00000369056.1_Missense_Mutation_p.K421I|FGFR2_ENST00000360144.3_Missense_Mutation_p.K332I|FGFR2_ENST00000369061.4_Missense_Mutation_p.K308I|FGFR2_ENST00000369060.4_Intron	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	420					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.K420I(2)|p.K421I(1)|p.K331I(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GGGGATACGTTTGGTCAGCTT	0.498000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				14	75					0	0	0.189662	0	0
SALL3	27164	broad.mit.edu	37	18	76757010	76757010	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:76757010G>T	ENST00000536229.3	+	3	3685	c.2976G>T	c.(2974-2976)caG>caT	p.Q992H	SALL3_ENST00000537592.2_Missense_Mutation_p.Q1197H|SALL3_ENST00000575389.2_Missense_Mutation_p.Q1125H			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q1197H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AAATGTTCCAGAAGGACCTGG	0.577000													10	38					0.000442599	0.000513331	0.058154	1	0
ASXL2	55252	broad.mit.edu	37	2	25991666	25991666	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:25991666C>A	ENST00000435504.4	-	7	869	c.576G>T	c.(574-576)caG>caT	p.Q192H	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.Q164H			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	192	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.Q192H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAGAGATGCTGGTTGGAGG	0.453000													18	93					5.35267e-07	7.51629e-07	0.189662	1	0
KIF3C	3797	broad.mit.edu	37	2	26152180	26152180	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:26152180C>A	ENST00000264712.3	-	7	2861	c.2282G>T	c.(2281-2283)aGa>aTa	p.R761I	KIF3C_ENST00000405914.1_Missense_Mutation_p.R761I	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	761	Globular (Potential).				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.R761I(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACCAGGATCTGGACTTTCG	0.567000													9	38					0.000442599	0.000513331	0.058154	1	0
THSD7B	80731	broad.mit.edu	37	2	138400071	138400071	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:138400071G>T	ENST00000409968.1	+	21	3991	c.3813G>T	c.(3811-3813)cgG>cgT	p.R1271R	THSD7B_ENST00000413152.2_Silent_p.R1243R|THSD7B_ENST00000272643.3_Silent_p.R1274R|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B									p.R1274L(1)|p.R1243L(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAATGAGCCGGACTCGATTTA	0.498000													11	68					5.50884e-06	7.22357e-06	0.093190	1	0
PLAGL2	5326	broad.mit.edu	37	20	30789751	30789751	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:30789751C>T	ENST00000246229.4	-	2	495	c.231G>A	c.(229-231)aaG>aaA	p.K77K		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	77						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K77K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AAGCAAAAGCCTTGCCACAGT	0.522000													9	47					0	0	0.058154	0	0
CDH2	1000	broad.mit.edu	37	18	25572768	25572768	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:25572768T>A	ENST00000269141.3	-	9	1618	c.1195A>T	c.(1195-1197)Ata>Tta	p.I399L	CDH2_ENST00000399380.3_Missense_Mutation_p.I368L	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	399	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.I399L(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTAGCTACTATGATGTCTACC	0.493000													7	42					0	0	0.038147	0	0
GRIN2A	2903	broad.mit.edu	37	16	9943652	9943652	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:9943652A>G	ENST00000396573.2	-	6	1598	c.1289T>C	c.(1288-1290)gTg>gCg	p.V430A	GRIN2A_ENST00000396575.2_Missense_Mutation_p.V430A|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V430A|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V430A|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V273A|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V430A	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	430					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.V430A(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)	GGTGTTCCTCACACACGTCTC	0.542000													8	64					0	0	0.058154	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76779596	76779596	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:76779596A>T	ENST00000328299.3	+	2	273	c.125A>T	c.(124-126)cAa>cTa	p.Q42L		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	42					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.Q42L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TGCTTTGGACAACCTGGTACA	0.448000													9	55					0	0	0.080935	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671451	31671451	+	Silent	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:31671451C>A	ENST00000375483.3	+	3	448	c.448C>A	c.(448-450)Cga>Aga	p.R150R		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	150	Gly-rich.					cytoplasm|extracellular region	lipid binding	p.R111R(1)									GCTTCACCGGCGAGAGCTGCA	0.642000													7	36					2.0095e-06	2.71264e-06	0.029380	1	0
HHAT	55733	broad.mit.edu	37	1	210577832	210577832	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:210577832G>A	ENST00000367010.1	+	6	720	c.493G>A	c.(493-495)Gag>Aag	p.E165K	HHAT_ENST00000545781.1_Missense_Mutation_p.E102K|HHAT_ENST00000545154.1_Missense_Mutation_p.E166K|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000308852.6_Missense_Mutation_p.E120K|HHAT_ENST00000537898.1_Missense_Mutation_p.E100K|HHAT_ENST00000413764.2_Missense_Mutation_p.E165K|HHAT_ENST00000261458.3_Missense_Mutation_p.E165K|HHAT_ENST00000391905.3_Missense_Mutation_p.E165K	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	165			E -> G (in dbSNP:rs2228898).		multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	p.E165K(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GACAGAAAACGAGTACTACCT	0.557000													7	33					0	0	0.029380	0	0
PAX6	5080	broad.mit.edu	37	11	31816191	31816191	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:31816191C>A	ENST00000419022.1	-	9	1179	c.711G>T	c.(709-711)gaG>gaT	p.E237D	PAX6_ENST00000379129.2_Missense_Mutation_p.E237D|PAX6_ENST00000379132.3_Missense_Mutation_p.E223D|PAX6_ENST00000379107.2_Missense_Mutation_p.E237D|PAX6_ENST00000379115.4_Missense_Mutation_p.E237D|PAX6_ENST00000379111.2_Missense_Mutation_p.E223D|PAX6_ENST00000379123.5_Missense_Mutation_p.E223D|PAX6_ENST00000241001.8_Missense_Mutation_p.E223D	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	223					blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	p.E237D(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTCCAGGGCCTCAATTTGCT	0.428000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				6	31					0.217242	0.219337	0.217242	1	0
CSNK2A3	283106	broad.mit.edu	37	11	11373750	11373750	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:11373750C>G	ENST00000528848.2	-	1	1154	c.917G>C	c.(916-918)cGa>cCa	p.R306P	GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide																		GTGGTCATATCGCAGCAGTTT	0.522000													10	27					0	0	0.058154	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769611	140769611	+	Silent	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140769611C>T	ENST00000519479.1	+	1	2160	c.2160C>T	c.(2158-2160)gcC>gcT	p.A720A	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1												p.A720A(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCCCCGCCTCCTGGAGCT	0.562000													50	99					0	0	0.139131	0	0
CDKN1C	1028	broad.mit.edu	37	11	2905952	2905952	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:2905952G>A	ENST00000414822.3	-	1	1159	c.768C>T	c.(766-768)gcC>gcT	p.A256A	CDKN1C_ENST00000313407.6_Silent_p.A245A|CDKN1C_ENST00000430149.2_Silent_p.A256A|CDKN1C_ENST00000380725.1_Intron|CDKN1C_ENST00000440480.2_Silent_p.A245A	NM_000076.2	NP_000067.1	P49918	CDN1C_HUMAN	cyclin-dependent kinase inhibitor 1C (p57, Kip2)	256					cell cycle arrest|G1 phase of mitotic cell cycle|negative regulation of epithelial cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding	p.A256A(1)		central_nervous_system(1)|lung(1)	2		all_epithelial(84;0.000187)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|Breast(177;0.00328)|all_neural(188;0.00681)|all_lung(207;0.157)|Lung NSC(207;0.216)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCGCTGGCGGCCGCGGTGC	0.771000													5	6					0	0	0.029380	0	0
TAF15	8148	broad.mit.edu	37	17	34171871	34171871	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:34171871G>T	ENST00000588240.1	+	15	1683	c.1568G>T	c.(1567-1569)gGa>gTa	p.G523V	TAF15_ENST00000592237.1_Intron|TAF15_ENST00000311979.3_Missense_Mutation_p.G520V	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	523	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	p.G523V(1)	TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ggaggctatggaggagACAGA	0.612000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								5	22					0.000602214	0.000684377	0.184627	1	0
XIRP2	129446	broad.mit.edu	37	2	167992503	167992503	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:167992503G>T	ENST00000409195.1	+	3	582	c.493G>T	c.(493-495)Gac>Tac	p.D165Y	XIRP2_ENST00000409756.2_Missense_Mutation_p.D165Y|XIRP2_ENST00000295237.9_Missense_Mutation_p.D165Y|XIRP2_ENST00000420519.1_Missense_Mutation_p.D165Y|XIRP2_ENST00000409728.1_Missense_Mutation_p.D165Y|XIRP2_ENST00000409043.1_Missense_Mutation_p.D165Y|XIRP2-AS1_ENST00000525330.1_RNA	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding	p.D165Y(2)		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						GAAAGATTCAGACAAGAAAGG	0.428000													14	48					2.32078e-09	3.58889e-09	0.132662	1	0
GABRE	2564	broad.mit.edu	37	X	151130895	151130895	+	Splice_Site	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:151130895C>A	ENST00000370325.1	-	4	616	c.563_splice	c.e4+1	p.R188_splice	GABRE_ENST00000370328.3_Splice_Site_p.R188_splice|GABRE_ENST00000393914.3_Splice_Site_p.V23_splice			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	188					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.R188M(2)|p.R75M(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGACATACCTAATTGTGTA	0.453000													3	23					0.004672	0.00503244	0.115264	1	0
CRB1	23418	broad.mit.edu	37	1	197398720	197398720	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:197398720C>A	ENST00000367397.1	+	4	1819	c.961C>A	c.(961-963)Cag>Aag	p.Q321K	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.Q421K|CRB1_ENST00000367399.2_Missense_Mutation_p.Q828K|CRB1_ENST00000535699.1_Missense_Mutation_p.Q916K|CRB1_ENST00000367400.3_Missense_Mutation_p.Q940K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	940	EGF-like 8.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.Q940K(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGCCCAGTGCCAGCCGGTGCT	0.507000													4	47					5.9392e-07	8.30808e-07	0.217242	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	102					0	0	0.150653	0	0
OR6N1	128372	broad.mit.edu	37	1	158736408	158736408	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158736408C>T	ENST00000335094.2	-	1	84	c.65G>A	c.(64-66)gGt>gAt	p.G22D		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G22D(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AATCTGGACACCCTGGAGATG	0.502000													8	23					0	0	0.038147	0	0
RP1	6101	broad.mit.edu	37	8	55542122	55542122	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:55542122A>G	ENST00000220676.1	+	4	5828	c.5680A>G	c.(5680-5682)Agt>Ggt	p.S1894G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1894					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.S1894G(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)			ATTGCCTGGCAGTAATATGAT	0.393000													11	63					0	0	0.105934	0	0
NLRP10	338322	broad.mit.edu	37	11	7981665	7981665	+	Silent	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:7981665C>G	ENST00000328600.2	-	2	1655	c.1494G>C	c.(1492-1494)ctG>ctC	p.L498L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	498							ATP binding	p.L498L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTACCTCCAGCAGCCTTTGCA	0.502000													12	47					0	0	0.119110	0	0
RAB1B	81876	broad.mit.edu	37	11	66039310	66039310	+	Silent	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:66039310G>T	ENST00000311481.6	+	2	204	c.57G>T	c.(55-57)gtG>gtT	p.V19V	RAB1B_ENST00000527397.1_Silent_p.V19V|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	19					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding	p.V19V(1)		large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						ACTCAGGCGTGGGCAAGTCAT	0.577000													8	37					0.000274275	0.000320388	0.047766	1	0
PIGV	55650	broad.mit.edu	37	1	27120928	27120928	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:27120928C>T	ENST00000374145.1	+	3	1085	c.403C>T	c.(403-405)Cat>Tat	p.H135Y	PIGV_ENST00000449950.2_Intron|PIGV_ENST00000078527.4_Missense_Mutation_p.H135Y	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	135					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity	p.H135Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		AGTTGCACTTCATGACCTGGG	0.502000													4	51					0	0	0.150653	0	0
F13A1	2162	broad.mit.edu	37	6	6305623	6305623	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:6305623C>A	ENST00000264870.3	-	3	545	c.280G>T	c.(280-282)Gac>Tac	p.D94Y		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	94					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.D94Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CTTCTGGGGTCATATGGACGA	0.493000													20	43					1.64293e-13	2.80389e-13	0.083992	1	0
LRP5	4041	broad.mit.edu	37	11	68157355	68157355	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:68157355G>T	ENST00000294304.7	+	7	1525	c.1419G>T	c.(1417-1419)atG>atT	p.M473I		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	473	Beta-propeller 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	p.M473I(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCAGCCTCATGTACTGGACAG	0.607000													10	41					2.68362e-12	4.48085e-12	0.093190	1	0
CDH4	1002	broad.mit.edu	37	20	60419857	60419857	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:60419857G>T	ENST00000360469.5	+	5	798	c.710G>T	c.(709-711)cGg>cTg	p.R237L	CDH4_ENST00000543233.1_Missense_Mutation_p.R163L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	237	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding	p.R237L(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCCATGGACCGGGAGGAGCAC	0.662000													7	13					0.00448238	0.00486753	0.047766	1	0
DSG2	1829	broad.mit.edu	37	18	29122774	29122774	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr18:29122774G>C	ENST00000261590.8	+	14	2502	c.2293G>C	c.(2293-2295)Gtt>Ctt	p.V765L	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	765					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.V765L(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GGCAGCTGCTGTTGCACTGAA	0.502000													12	38					0	0	0.080935	0	0
IFRD2	7866	broad.mit.edu	37	3	50327638	50327638	+	Silent	SNP	G	G	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr3:50327638G>A	ENST00000436390.1	-	7	848	c.351C>T	c.(349-351)ctC>ctT	p.L117L	IFRD2_ENST00000336089.4_Silent_p.L283L|IFRD2_ENST00000429673.2_Silent_p.L181L|IFRD2_ENST00000484043.1_5'UTR|IFRD2_ENST00000417626.2_Silent_p.L117L			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	181							binding	p.L283L(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CGGCTAGCGTGAGGCGGCGCT	0.642000													6	9					0	0	0.217242	0	0
AQP10	89872	broad.mit.edu	37	1	154296832	154296832	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:154296832A>T	ENST00000324978.3	+	6	822	c.782A>T	c.(781-783)cAg>cTg	p.Q261L	AQP10_ENST00000484864.1_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	261					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	p.Q261L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCCACTTACCAGCTGTTGGTG	0.602000											OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	66					0	0	0.132662	0	0
OR2M2	391194	broad.mit.edu	37	1	248343446	248343446	+	Silent	SNP	C	C	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:248343446C>G	ENST00000359682.2	+	1	159	c.159C>G	c.(157-159)acC>acG	p.T53T		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T53T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCTGGACACCCAGCTCCACA	0.537000													31	245					0	0	0.183431	0	0
MAN2A1	4124	broad.mit.edu	37	5	109178149	109178149	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:109178149T>G	ENST00000261483.4	+	17	3739	c.2687T>G	c.(2686-2688)cTa>cGa	p.L896R		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	896					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.L896R(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TATACTGACCTAAATGGGTAC	0.303000													13	36					0	0	0.175082	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12942121	12942121	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:12942121delC	ENST00000235349.5	-	3	499	c.429delG	c.(427-429)atfs	p.M143fs		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	143										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCGTCCTCTCATCCTTGGAC	0.507													54	213	---	---	---	---					
PADI6	353238	broad.mit.edu	37	1	17723476	17723477	+	RNA	INS	-	-	CA	rs67024576	by1000genomes	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:17723476_17723477insCA	ENST00000434762.2	+	0	1669							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGAATGCACCCAGGTGGCTGG	0.629													3	5	---	---	---	---					
AGO1	26523	broad.mit.edu	37	1	36380996	36380996	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:36380996delG	ENST00000373204.4	+	15	2094	c.1881delG	c.(1879-1881)gtfs	p.V627fs	AGO1_ENST00000373206.1_Frame_Shift_Del_p.V552fs	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		GTGCTACTGTGCGGGTACAGC	0.527													11	61	---	---	---	---					
PYHIN1	149628	broad.mit.edu	37	1	158908283	158908284	+	Frame_Shift_Ins	INS	-	-	A	rs138593148		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:158908283_158908284insA	ENST00000368140.1	+	3	607_608	c.362_363insA	c.(361-363)cagfs	p.Q121fs	PYHIN1_ENST00000368135.4_Frame_Shift_Ins_p.Q121fs|PYHIN1_ENST00000392254.2_Frame_Shift_Ins_p.Q121fs|PYHIN1_ENST00000392252.3_Frame_Shift_Ins_p.Q112fs|PYHIN1_ENST00000368138.3_Frame_Shift_Ins_p.Q112fs	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	121					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GCATGCACCCCAAGCAACCGTC	0.455													8	73	---	---	---	---					
TMEM63A	9725	broad.mit.edu	37	1	226034840	226034842	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:226034840_226034842delCTG	ENST00000366835.3	-	24	2593_2595	c.2323_2325delCAG	c.(2323-2325)del	p.Q775del		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	775						integral to membrane|lysosomal membrane	nucleotide binding	p.Q775delQ(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCATAGGTCTGCTGCTGCTGC	0.626													7	119	---	---	---	---					
OR13G1	441933	broad.mit.edu	37	1	247836003	247836004	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr1:247836003_247836004insT	ENST00000359688.2	-	1	361_362	c.340_341insA	c.(340-342)catfs	p.H114fs	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	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)			ATAGGCCATGGTGGTGAAGAGA	0.465													13	37	---	---	---	---					
DHRS9	10170	broad.mit.edu	37	2	169939978	169939978	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:169939978delG	ENST00000327239.4	+	6	1957	c.453delG	c.(451-453)ttfs	p.L151fs	DHRS9_ENST00000412271.1_Frame_Shift_Del_p.L151fs|DHRS9_ENST00000432060.2_Frame_Shift_Del_p.L211fs|DHRS9_ENST00000428522.1_Frame_Shift_Del_p.L151fs|DHRS9_ENST00000421653.1_Frame_Shift_Del_p.L4fs|DHRS9_ENST00000357546.2_Frame_Shift_Del_p.L151fs|DHRS9_ENST00000436483.2_Frame_Shift_Del_p.L151fs|DHRS9_ENST00000602501.1_Frame_Shift_Del_p.L151fs	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	151					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TGCTTCCTTTGGTCAAGAAAG	0.473													14	94	---	---	---	---					
LRP2	4036	broad.mit.edu	37	2	170058337	170058337	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:170058337delC	ENST00000263816.3	-	44	8538	c.8253delG	c.(8251-8253)ggfs	p.G2751fs		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2751	LDL-receptor class A 17.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGACACATCGCCCATTGGCAC	0.478													10	57	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179605401	179605401	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:179605401delT	ENST00000589042.1	-	48	12783	c.12559delA	c.(12559-12561)gtfs	p.S4187fs	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.S3870fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.S3949fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.S3824fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.S4016fs|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3870							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACATGGCACTTGGGAAGATT	0.403													19	73	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179610640	179610640	+	Frame_Shift_Del	DEL	A	A	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:179610640delA	ENST00000360870.5	-	46	16709	c.16487delT	c.(16486-16488)tafs	p.L5496fs	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8982	Ig-like 35.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGCTCTTTAAGACCAATTC	0.398													16	96	---	---	---	---					
SPEG	10290	broad.mit.edu	37	2	220344787	220344788	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr2:220344787_220344788insC	ENST00000312358.7	+	25	5399_5400	c.5267_5268insC	c.(5266-5268)tcafs	p.S1756fs	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1756	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCAGTACTGCCAGTATGGCA	0.599													12	63	---	---	---	---					
GABRA4	2557	broad.mit.edu	37	4	46981053	46981054	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:46981053_46981054insA	ENST00000264318.3	-	3	1249_1250	c.267_268insT	c.(265-270)gtaaatfs	p.N90fs		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	90					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.E90K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCTACCATTTCAACATCAGAAA	0.322													16	57	---	---	---	---					
KIAA1211	57482	broad.mit.edu	37	4	57173812	57173812	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:57173812delC	ENST00000504228.1	+	3	337	c.232delC	c.(232-234)ccfs	p.P78fs	KIAA1211_ENST00000541073.1_Frame_Shift_Del_p.P71fs|KIAA1211_ENST00000264229.6_Frame_Shift_Del_p.P78fs			Q6ZU35	K1211_HUMAN	KIAA1211	78										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCTGACCAGTCCCATGGAAAT	0.498													8	54	---	---	---	---					
EPHA5	2044	broad.mit.edu	37	4	66356246	66356246	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr4:66356246delC	ENST00000273854.3	-	5	1851	c.1251delG	c.(1249-1251)cgfs	p.R417fs	EPHA5_ENST00000511294.1_Frame_Shift_Del_p.R417fs|EPHA5_ENST00000354839.4_Frame_Shift_Del_p.R417fs|EPHA5_ENST00000432638.2_Intron	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	417	Fibronectin type-III 1.		R -> Q (in a lung adenocarcinoma sample; somatic mutation).		cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGCCGCTTTGCCGGGGAAGGT	0.493										TSP Lung(17;0.13)			18	50	---	---	---	---					
RASA1	5921	broad.mit.edu	37	5	86648978	86648978	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:86648978delG	ENST00000456692.2	+	9	842	c.727delG	c.(727-729)ggfs	p.G243fs	RASA1_ENST00000506290.1_Frame_Shift_Del_p.G254fs|RASA1_ENST00000512763.1_Frame_Shift_Del_p.G253fs|RASA1_ENST00000274376.6_Frame_Shift_Del_p.G420fs	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	420	SH2 1.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TAACAGCATTGGGGACATCAT	0.303													11	33	---	---	---	---					
PCDHAC2	56134	broad.mit.edu	37	5	140348144	140348144	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:140348144delC	ENST00000289269.5	+	1	2325	c.1793delC	c.(1792-1794)gcfs	p.A598fs	PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		598	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCGAACTGCCCCTGCTGGC	0.522													16	24	---	---	---	---					
FNDC9	408263	broad.mit.edu	37	5	156769909	156769910	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr5:156769909_156769910insC	ENST00000312349.4	-	2	822_823	c.635_636insG	c.(634-636)gggfs	p.G212fs	CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000435847.2_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	212						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GTGGGTCACCACCCCCCCTCTG	0.584											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	51	---	---	---	---					
ZNF292	23036	broad.mit.edu	37	6	87964645	87964646	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr6:87964645_87964646insA	ENST00000369577.3	+	8	1341_1342	c.1298_1299insA	c.(1297-1299)tctfs	p.S433fs	ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.S428fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGTGAGCTGTTACTTGTATTGA	0.386													11	25	---	---	---	---					
VSTM2A	222008	broad.mit.edu	37	7	54617582	54617582	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:54617582delG	ENST00000302287.3	+	4	759	c.353delG	c.(352-354)agfs	p.R118fs	VSTM2A_ENST00000402026.2_Frame_Shift_Del_p.R117fs|VSTM2A_ENST00000407838.3_Frame_Shift_Del_p.R118fs|VSTM2A_ENST00000402613.3_Frame_Shift_Del_p.R118fs|VSTM2A_ENST00000404951.1_Frame_Shift_Del_p.R118fs|VSTM2A_ENST00000498834.1_3'UTR			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	118	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TCCAAAGTGAGGAAAAAGGAT	0.433													7	21	---	---	---	---					
CACNA2D1	781	broad.mit.edu	37	7	81746367	81746368	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr7:81746367_81746368delAT	ENST00000356860.3	-	6	856_857	c.518_519delAT	c.(517-519)tfs	p.Y173fs	CACNA2D1_ENST00000423588.1_Frame_Shift_Del_p.Y173fs|CACNA2D1_ENST00000356253.5_Frame_Shift_Del_p.Y173fs	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	173						voltage-gated calcium channel complex	metal ion binding			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)	TACAGCCCTCATAGATGTCAGT	0.411													13	135	---	---	---	---					
RP1L1	94137	broad.mit.edu	37	8	10469147	10469147	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:10469147delG	ENST00000382483.3	-	4	2684	c.2461delC	c.(2461-2463)acfs	p.H821fs		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	821					intracellular signal transduction					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)		TGGCTTCGGTGGGGGCCCACC	0.701													7	28	---	---	---	---					
MMP16	4325	broad.mit.edu	37	8	89128827	89128827	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:89128827delC	ENST00000286614.6	-	6	1273	c.992delG	c.(991-993)gcfs	p.G331fs	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	331					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GGAGGGTCTGCCGGTTGGAGG	0.532													21	66	---	---	---	---					
FER1L6	654463	broad.mit.edu	37	8	125047670	125047670	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr8:125047670delC	ENST00000522917.1	+	19	2645	c.2439delC	c.(2437-2439)cafs	p.H813fs	FER1L6_ENST00000399018.1_Frame_Shift_Del_p.H813fs|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	813	C2 3.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCACCAATCACCCCCCATCTA	0.542													7	38	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	16941090	16941090	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:16941090delC	ENST00000377833.4	-	54	8568	c.8503delG	c.(8503-8505)ccfs	p.A2835fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2835	CUB 21.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGAGTAATGGCCGTCCAGGAA	0.433													13	86	---	---	---	---					
CTNNA3	29119	broad.mit.edu	37	10	68535271	68535271	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr10:68535271delT	ENST00000433211.1	-	8	1233	c.1059delA	c.(1057-1059)aafs	p.K353fs	CTNNA3_ENST00000373744.4_Frame_Shift_Del_p.K353fs|CTNNA3_ENST00000494580.1_5'UTR	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	353					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TACTCCTTTCTTTTTTTCCAG	0.358													20	134	---	---	---	---					
OR51B4	79339	broad.mit.edu	37	11	5322666	5322666	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:5322666delG	ENST00000380224.1	-	1	560	c.511delC	c.(511-513)tcfs	p.L172fs	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGTGCAAGAGGGCACGGGAA	0.413													10	48	---	---	---	---					
KIAA1549L	25758	broad.mit.edu	37	11	33604956	33604958	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:33604956_33604958delTCA	ENST00000321505.4	+	10	3764_3766	c.3584_3586delTCA	c.(3583-3588)gtc>g	p.VI1195del	KIAA1549L_ENST00000265654.5_In_Frame_Del_p.VI1201del|KIAA1549L_ENST00000389726.3_In_Frame_Del_p.VI1201del					KIAA1549-like																		GTGGTCACGGTCATCATCATCAT	0.547													2	4	---	---	---	---					
PITPNM1	9600	broad.mit.edu	37	11	67269818	67269818	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:67269818delC	ENST00000356404.3	-	4	585	c.360delG	c.(358-360)ggfs	p.G120fs	PITPNM1_ENST00000534749.1_Frame_Shift_Del_p.G120fs|PITPNM1_ENST00000436757.2_Frame_Shift_Del_p.G120fs	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	120					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TTGGCTGCTGCCCCCCATCAG	0.607													18	65	---	---	---	---					
RP11-856F16.2	0	broad.mit.edu	37	11	94647042	94647054	+	RNA	DEL	GGTGACTTTCCTG	GGTGACTTTCCTG	-	rs141007786	by1000genomes	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:94647042_94647054delGGTGACTTTCCTG	ENST00000545958.1	-	0	97																											GTCTTTTCCAGGTGACTTTCCTGGGGGAATGCC	0.479													8	18	---	---	---	---					
BIRC3	330	broad.mit.edu	37	11	102201833	102201838	+	In_Frame_Del	DEL	AAAACA	AAAACA	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr11:102201833_102201838delAAAACA	ENST00000263464.3	+	6	3935_3940	c.1185_1190delAAAACA	c.(1183-1191)gtg>gt	p.VKQ395del	BIRC3_ENST00000532808.1_In_Frame_Del_p.VKQ395del	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	395					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		GAAGCCTGGTAAAACAGACAGTTCAG	0.393			T	MALT1	MALT								8	62	---	---	---	---					
TMTC1	83857	broad.mit.edu	37	12	29673641	29673641	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:29673641delC	ENST00000256062.5	-	12	1947	c.1474delG	c.(1474-1476)aafs	p.E492fs	RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000539277.1_Frame_Shift_Del_p.E600fs|TMTC1_ENST00000551659.1_Frame_Shift_Del_p.E662fs|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Frame_Shift_Del_p.E624fs	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	600						integral to membrane	binding			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)					TCTTCAGCTTCTTTAAACCGC	0.328													10	70	---	---	---	---					
HECTD4	283450	broad.mit.edu	37	12	112622024	112622024	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:112622024delG	ENST00000550722.1	-	61	10703	c.10308delC	c.(10306-10308)gcfs	p.A3437fs	HECTD4_ENST00000377560.5_Frame_Shift_Del_p.A3411fs|HECTD4_ENST00000430131.2_Frame_Shift_Del_p.A3161fs	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TGGGGCGGGCGGCGAGGGGCT	0.582													18	146	---	---	---	---					
FBXO21	23014	broad.mit.edu	37	12	117583913	117583914	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr12:117583913_117583914insT	ENST00000427718.2	-	12	1918_1919	c.1844_1845insA	c.(1843-1845)aaafs	p.K615fs	FBXO21_ENST00000330622.5_Frame_Shift_Ins_p.K622fs	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	622					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TGTTCTCTTTCTTTGCACTGTA	0.465													10	61	---	---	---	---					
GPR139	124274	broad.mit.edu	37	16	20043388	20043389	+	Frame_Shift_Ins	INS	-	-	G	rs140063049	byFrequency	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:20043388_20043389insG	ENST00000570682.1	-	2	1030_1031	c.730_731insC	c.(730-732)catfs	p.H244fs		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	244						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CATGATGATGCGGGGGGCCCAA	0.545													7	55	---	---	---	---					
NPIPB5	100132247	broad.mit.edu	37	16	22545922	22545922	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:22545922delC	ENST00000424340.1	+	7	1897	c.1618delC	c.(1618-1620)cgfs	p.P540fs	NPIPB5_ENST00000517539.1_Frame_Shift_Del_p.P540fs|NPIPB5_ENST00000415654.1_3'UTR	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		TCTGCGGGGGCCGCTTCCACC	0.552													7	129	---	---	---	---					
PRKCB	5579	broad.mit.edu	37	16	24192147	24192147	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:24192147delG	ENST00000303531.7	+	13	1583	c.1431delG	c.(1429-1431)gafs	p.E477fs	PRKCB_ENST00000321728.7_Frame_Shift_Del_p.E477fs	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	477	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCGATTCTGAGGGACACATCA	0.453													16	115	---	---	---	---					
ZC3H18	124245	broad.mit.edu	37	16	88694450	88694451	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr16:88694450_88694451insA	ENST00000301011.5	+	15	2592_2593	c.2392_2393insA	c.(2392-2394)gcafs	p.A798fs	ZC3H18_ENST00000452588.2_Frame_Shift_Ins_p.A822fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	798						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CTCGACACCCCAGCAGGCACCC	0.584													20	120	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684390	26684391	+	Frame_Shift_Ins	INS	-	-	C	rs148075904	by1000genomes	TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:26684390_26684391insC	ENST00000540200.1	-	2	80_81	c.81_82insG	c.(79-84)aacgctfs	p.NA27fs	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	28						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCACAGAGCGGCTTTGCCACCG	0.762													4	5	---	---	---	---					
MED1	5469	broad.mit.edu	37	17	37575999	37575999	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:37575999delC	ENST00000300651.6	-	14	1491	c.1268delG	c.(1267-1269)acfs	p.S423fs	MED1_ENST00000394287.3_Frame_Shift_Del_p.S423fs	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	423	Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTTGACACAGCTTCCAATGAG	0.433										HNSCC(31;0.082)			22	68	---	---	---	---					
NXPH3	11248	broad.mit.edu	37	17	47656602	47656602	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:47656602delC	ENST00000328741.5	+	2	1061	c.699delC	c.(697-699)gtfs	p.V233fs	NXPH3_ENST00000513748.1_Frame_Shift_Del_p.V233fs	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	233	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					ATCGGCTGGTCCAGAAGGTGT	0.602													8	62	---	---	---	---					
ANKFN1	162282	broad.mit.edu	37	17	54517785	54517785	+	Splice_Site	DEL	G	G	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:54517785delG	ENST00000566473.2	+	8	1017	c.1017_splice	c.e8+1	p.M339_splice	ANKFN1_ENST00000318698.2_Splice_Site_p.M339_splice			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	339	Fibronectin type-III.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GACTTACAATGGTAAATGTCC	0.428													13	53	---	---	---	---					
TTYH2	94015	broad.mit.edu	37	17	72249262	72249263	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr17:72249262_72249263insAA	ENST00000441391.2	+	6	1551_1552	c.339_340insAA	c.(337-342)aacccafs	p.NP113fs	TTYH2_ENST00000529107.1_Frame_Shift_Ins_p.NP413fs|TTYH2_ENST00000269346.4_Frame_Shift_Ins_p.NP434fs	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	434						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						ACCCCTTTAACCCCCAAGCCTG	0.584													16	114	---	---	---	---					
DOT1L	84444	broad.mit.edu	37	19	2222371	2222371	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:2222371delC	ENST00000398665.3	+	24	3239	c.3203delC	c.(3202-3204)acfs	p.T1068fs		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1068						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCCCCTGACCGCCAGCGCC	0.672													7	16	---	---	---	---					
NKPD1	284353	broad.mit.edu	37	19	45655751	45655752	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:45655751_45655752insT	ENST00000317951.4	-	4	1942_1943	c.1943_1944insA	c.(1942-1944)cacfs	p.H648fs	NKPD1_ENST00000429338.1_Frame_Shift_Ins_p.H426fs|NKPD1_ENST00000438936.2_Frame_Shift_Ins_p.H426fs|NKPD1_ENST00000589776.1_Frame_Shift_Ins_p.H426fs	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GGCGCGGCGTGGGGCCCCCAAA	0.723													8	6	---	---	---	---					
ZNF813	126017	broad.mit.edu	37	19	53994115	53994116	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:53994115_53994116delTG	ENST00000396403.4	+	4	757_758	c.629_630delTG	c.(628-630)afs	p.M210fs	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GAGGTACACATGAGAGAAAAGT	0.347													46	62	---	---	---	---					
LILRB5	10990	broad.mit.edu	37	19	54754838	54754839	+	Frame_Shift_Ins	INS	-	-	G	rs11375503		TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:54754838_54754839insG	ENST00000450632.1	-	13	1873_1874	c.1796_1797insC	c.(1795-1797)cccfs	p.P599fs	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	424					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGGTGGGGGTGGGGAGGCCTG	0.604													8	17	---	---	---	---					
LILRA1	11024	broad.mit.edu	37	19	55106837	55106837	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr19:55106837delC	ENST00000453777.1	+	5	801	c.631delC	c.(631-633)ccfs	p.P211fs	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Frame_Shift_Del_p.P211fs|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	211	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GTGGTCTCTACCCAGTGATCT	0.597													62	67	---	---	---	---					
FASTKD5	60493	broad.mit.edu	37	20	3129210	3129210	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:3129210delC	ENST00000380266.3	-	2	828	c.507delG	c.(505-507)aafs	p.K169fs	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	169					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AAGAGCTCAGCTTACACAAAT	0.443													10	36	---	---	---	---					
CST11	140880	broad.mit.edu	37	20	23433334	23433334	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:23433334delC	ENST00000377009.3	-	1	148	c.115delG	c.(115-117)cafs	p.A39fs	CST11_ENST00000377007.3_Frame_Shift_Del_p.A39fs	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	39					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TTTTCTACTGCCATCACTTCA	0.488													28	83	---	---	---	---					
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	RNA	DEL	A	A	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363													4	7	---	---	---	---					
SAMHD1	25939	broad.mit.edu	37	20	35539642	35539642	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr20:35539642delC	ENST00000262878.4	-	11	1448	c.1249delG	c.(1249-1251)aafs	p.E417fs		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	417					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GTATAGGCTTCCATGTCGTCA	0.383													23	83	---	---	---	---					
P2RX6	9127	broad.mit.edu	37	22	21369622	21369622	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:21369622delG	ENST00000413302.2	+	1	307	c.159delG	c.(157-159)gtfs	p.V54fs	P2RX6_ENST00000402329.3_Intron|P2RX6_ENST00000401443.1_Intron|P2RX6_ENST00000591411.1_Intron|P2RX6_ENST00000443995.3_Splice_Site_p.W3_splice|P2RX6_ENST00000336296.2_Frame_Shift_Del_p.V44fs			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	54					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										TGGTCTATGTGGTAGGGTAAG	0.592													7	159	---	---	---	---					
P2RX6P	440799	broad.mit.edu	37	22	21399177	21399177	+	RNA	DEL	C	C	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chr22:21399177delC	ENST00000439119.1	-	0	51					NR_002829.1																						TCTTACCCTACCACATAGACG	0.582													23	47	---	---	---	---					
PABPC5	140886	broad.mit.edu	37	X	90691552	90691552	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5781-01A-01D-1625-08	TCGA-64-5781-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb9cfb49-99cf-4f49-8f3d-e25e762eb3ce	3bd98c92-eaf2-4469-bc17-509bb7cd2197	g.chrX:90691552delG	ENST00000312600.3	+	2	1190	c.976delG	c.(976-978)ggfs	p.G326fs	PABPC5_ENST00000373105.1_Frame_Shift_Del_p.G162fs	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	326	RRM 4.					cytoplasm	nucleotide binding|RNA binding			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						TTCTTCCTTTGGGTCAATTAG	0.438													7	53	---	---	---	---