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
OR2L3	391192	broad.mit.edu	37	1	248224880	248224880	+	Silent	SNP	C	C	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:248224880C>A	ENST00000359959.3	+	1	897	c.897C>A	c.(895-897)gcC>gcA	p.A299A	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGATGGGGGCCCTGACACGAG	0.493000													10	58					0.00621372	0.00687698	0.006214	1	0
THBS1	7057	broad.mit.edu	37	15	39881288	39881288	+	Splice_Site	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr15:39881288G>A	ENST00000260356.5	+	11	1938		c.e11+1			NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1						activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TGTTGATGAGGTGAGGAACTG	0.517000													6	136					0	0	0.001168	0	0
PTCD1	26024	broad.mit.edu	37	7	99027337	99027337	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:99027337C>G	ENST00000292478.4	-	4	937	c.687G>C	c.(685-687)caG>caC	p.Q229H	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.Q278H|PTCD1_ENST00000555673.1_Missense_Mutation_p.Q278H|PTCD1_ENST00000485746.1_5'UTR	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	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)		STAD - Stomach adenocarcinoma(171;0.215)			TCAGGGCGCTCTGTAGAGCTG	0.597000													4	63					0	0	0.009096	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6085734	6085734	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:6085734T>A	ENST00000199389.6	-	6	744	c.598A>T	c.(598-600)Att>Ttt	p.I200F	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.I76F|EIF2AK1_ENST00000495565.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	200	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GCACCCTTAATCAGGATTTTT	0.254000													5	21					0	0	0.000602	0	0
CT47B1	643311	broad.mit.edu	37	X	120007815	120007815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:120007815C>A	ENST00000371311.3	-	2	1089	c.835G>T	c.(835-837)Gaa>Taa	p.E279*		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	279										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TCTTTCTCTTCCTCGCCTGCA	0.458000													167	563					4.69383e-74	5.74339e-74	0.014410	1	0
NOL9	79707	broad.mit.edu	37	1	6609717	6609717	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:6609717A>G	ENST00000377705.5	-	3	690	c.658T>C	c.(658-660)Tcc>Ccc	p.S220P		NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN	nucleolar protein 9	220					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		AACACAATGGAACACTGAGGA	0.413000													7	71					0	0	0.003080	0	0
ITIH4	3700	broad.mit.edu	37	3	52857598	52857598	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr3:52857598G>T	ENST00000266041.4	-	11	1609	c.1513C>A	c.(1513-1515)Ctc>Atc	p.L505I	ITIH4_ENST00000467462.1_5'UTR|ITIH4_ENST00000346281.5_Missense_Mutation_p.L505I|ITIH4_ENST00000485816.1_Missense_Mutation_p.L505I|ITIH4_ENST00000434759.3_Missense_Mutation_p.L417I|ITIH4_ENST00000406595.1_Missense_Mutation_p.L505I	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	505					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GTGGCTGTGAGCACATCAGGC	0.612000													8	22					0.000157383	0.000178187	0.003080	1	0
AGMO	392636	broad.mit.edu	37	7	15240926	15240926	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:15240926G>C	ENST00000342526.3	-	13	1491	c.1322C>G	c.(1321-1323)tCt>tGt	p.S441C		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	441					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			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CCAAGGGTGAGAGGTGAGTTG	0.308000													8	47					0	0	0.004482	0	0
HOMER3	9454	broad.mit.edu	37	19	19042181	19042181	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr19:19042181C>T	ENST00000539827.1	-	8	1499	c.847G>A	c.(847-849)Gag>Aag	p.E283K	AC002985.3_ENST00000596918.1_3'UTR|HOMER3_ENST00000221222.11_Missense_Mutation_p.E283K|HOMER3_ENST00000355887.6_Missense_Mutation_p.E283K|HOMER3_ENST00000594439.1_Missense_Mutation_p.E247K|HOMER3_ENST00000542541.2_Missense_Mutation_p.E283K|HOMER3_ENST00000594794.1_Missense_Mutation_p.E74K|HOMER3_ENST00000433218.2_Missense_Mutation_p.E283K|HOMER3_ENST00000392351.3_Missense_Mutation_p.E283K			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	283					metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding	p.E283*(1)		endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			TCCAGGGCCTCGCGGGGCCCC	0.627000													6	99					0	0	0.001168	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19704465	19704465	+	Silent	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr21:19704465C>G	ENST00000284885.3	-	14	1623	c.1590G>C	c.(1588-1590)ctG>ctC	p.L530L		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	530	CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTGGCTCCCACAGCTCAAAAG	0.403000													4	56					0	0	0.009096	0	0
EPO	2056	broad.mit.edu	37	7	100320365	100320365	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:100320365G>C	ENST00000252723.2	+	4	506	c.325G>C	c.(325-327)Gtc>Ctc	p.V109L		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	109					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GGCCCTGTTGGTCAACTCTTC	0.657000													3	61					0	0	0.004672	0	0
ACACB	32	broad.mit.edu	37	12	109684111	109684111	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr12:109684111A>G	ENST00000338432.7	+	39	5548	c.5429A>G	c.(5428-5430)tAc>tGc	p.Y1810C	ACACB_ENST00000377848.3_Missense_Mutation_p.Y1810C|ACACB_ENST00000543201.1_Missense_Mutation_p.Y476C|ACACB_ENST00000377854.5_Missense_Mutation_p.Y1740C			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1810	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GACCTTCTGTACCTGCGGGCA	0.562000													4	107					0	0	0.000602	0	0
PTGFR	5737	broad.mit.edu	37	1	79002110	79002110	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:79002110G>A	ENST00000370756.3	+	4	1126	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	PTGFR_ENST00000370757.3_Missense_Mutation_p.G273E|PTGFR_ENST00000370758.1_Missense_Mutation_p.G273E	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	0					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GCCAACATTGGAATAAATGGA	0.343000													4	56					0	0	0.009096	0	0
ZNF786	136051	broad.mit.edu	37	7	148777738	148777738	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:148777738C>G	ENST00000491431.1	-	2	154	c.90G>C	c.(88-90)caG>caC	p.Q30H	ZNF786_ENST00000451334.3_5'UTR|ZNF786_ENST00000316286.9_Intron	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AAAGTTCCTTCTGCCATGCCT	0.428000													3	55					0	0	0.004672	0	0
SEC61A2	55176	broad.mit.edu	37	10	12197794	12197794	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr10:12197794G>A	ENST00000379033.3	+	6	561	c.414G>A	c.(412-414)ttG>ttA	p.L138L	SEC61A2_ENST00000379020.4_Silent_p.L160L|SEC61A2_ENST00000298428.9_Silent_p.L160L|SEC61A2_ENST00000304267.8_Silent_p.L160L|SEC61A2_ENST00000495368.1_3'UTR	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	160						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				TTGCTGGTTTGATTGTGCTGC	0.473000													34	303					0	0	0.005524	0	0
PRPF8	10594	broad.mit.edu	37	17	1562841	1562841	+	Splice_Site	SNP	C	C	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:1562841C>A	ENST00000572621.1	-	31	5213	c.4946_splice	c.e31-1	p.D1650_splice	PRPF8_ENST00000304992.6_Splice_Site_p.D1650_splice			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1650						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCCATCACATCCCTGAGGATG	0.527000													9	78					0.000274275	0.000307001	0.004482	1	0
NOTCH1	4851	broad.mit.edu	37	9	139399790	139399790	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr9:139399790C>G	ENST00000277541.6	-	25	4633	c.4558G>C	c.(4558-4560)Gac>Cac	p.D1520H		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1520					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGCTGGCAGTCAAAGCCGTCG	0.627000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			2	6					0	0	0.004672	0	0
ADAD1	132612	broad.mit.edu	37	4	123336584	123336584	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:123336584C>T	ENST00000296513.2	+	11	1485	c.1300C>T	c.(1300-1302)Cgt>Tgt	p.R434C	ADAD1_ENST00000388725.2_Missense_Mutation_p.R416C|ADAD1_ENST00000388724.2_Missense_Mutation_p.R423C	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	434	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TATAAAGCAACGTGTTGATGA	0.368000													15	75					0	0	0.002450	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049988	69049988	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:69049988G>C	ENST00000295381.3	+	10	2133	c.1714G>C	c.(1714-1716)Gag>Cag	p.E572Q	ARHGAP25_ENST00000479844.1_Missense_Mutation_p.E266Q|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E566Q|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E573Q|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E533Q|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E565Q	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	572					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GCAAATGTATGAGGAACAGAT	0.448000													3	54					0	0	0.004672	0	0
TRPM3	80036	broad.mit.edu	37	9	73164531	73164531	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr9:73164531C>G	ENST00000377110.2	-	24	3841	c.3598G>C	c.(3598-3600)Gaa>Caa	p.E1200Q	TRPM3_ENST00000408909.2_Missense_Mutation_p.E1059Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1049Q|TRPM3_ENST00000377111.2_Missense_Mutation_p.E1200Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.E1059Q|TRPM3_ENST00000360823.2_Missense_Mutation_p.E1062Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.E1072Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1072Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1062Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1227Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1204Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1059Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1225						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AAGTATTCTTCTATGCATTGC	0.413000													3	71					0	0	0.004672	0	0
RAI2	10742	broad.mit.edu	37	X	17819471	17819471	+	Silent	SNP	G	G	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:17819471G>T	ENST00000545871.1	-	3	1120	c.660C>A	c.(658-660)ccC>ccA	p.P220P	RAI2_ENST00000451717.1_Silent_p.P220P|RAI2_ENST00000331511.1_Silent_p.P220P|RAI2_ENST00000360011.1_Silent_p.P220P|RAI2_ENST00000415486.3_Silent_p.P170P	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	220	Pro-rich.				embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GGGGGGACAAGGGGGAGCTAA	0.632000													24	35					6.44725e-10	7.74456e-10	0.014323	1	0
CECR5	27440	broad.mit.edu	37	22	17629399	17629399	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr22:17629399C>T	ENST00000336737.4	-	3	407	c.382G>A	c.(382-384)Gag>Aag	p.E128K	CECR5_ENST00000155674.5_Missense_Mutation_p.E98K|CECR5_ENST00000399852.3_Intron|CECR5_ENST00000480451.1_5'UTR	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	128							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TCATGGTACTCGGAGAAGAGC	0.557000													14	260					0	0	0.002450	0	0
CACNA1B	774	broad.mit.edu	37	9	140991032	140991032	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr9:140991032C>T	ENST00000277549.5	+	37	5342	c.2773C>T	c.(2773-2775)Cgg>Tgg	p.R925W	CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1732W|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1730W|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1729W|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R1731W|CACNA1B_ENST00000371365.2_Missense_Mutation_p.R95W|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1731W			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1731					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			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)	TGAGTTCATCCGGGTCTGGGC	0.562000													37	47					0	0	0.003755	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	50					0	0	0.004482	0	0
PSMA1	5682	broad.mit.edu	37	11	14540580	14540580	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr11:14540580T>C	ENST00000396394.2	-	2	407	c.11A>G	c.(10-12)aAt>aGt	p.N4S	PSMA1_ENST00000419365.2_Missense_Mutation_p.N4S|PSMA1_ENST00000530457.1_5'UTR|PSMA1_ENST00000555531.1_Missense_Mutation_p.N4S|PSMA1_ENST00000396393.1_Missense_Mutation_p.N4S|PSMA1_ENST00000418988.2_Missense_Mutation_p.N10S	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	4					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						GTCATACTGATTTCGAAACTA	0.308000													10	37					0	0	0.001855	0	0
HDX	139324	broad.mit.edu	37	X	83723803	83723803	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:83723803C>T	ENST00000297977.5	-	3	1039	c.928G>A	c.(928-930)Gag>Aag	p.E310K	HDX_ENST00000506585.2_Missense_Mutation_p.E252K|HDX_ENST00000373177.2_Missense_Mutation_p.E310K	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	310						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGCTCTTCCTCTCTGGCATAT	0.473000													16	80					0	0	0.004007	0	0
NREP	9315	broad.mit.edu	37	5	111066653	111066653	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr5:111066653G>A	ENST00000379671.3	-	5	436	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	NREP_ENST00000455559.2_Missense_Mutation_p.R58C|NREP_ENST00000419114.2_Missense_Mutation_p.R58C|STARD4-AS1_ENST00000513221.1_RNA|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000447165.2_Missense_Mutation_p.R58C|NREP_ENST00000509427.1_Missense_Mutation_p.R58C|NREP_ENST00000395634.3_Missense_Mutation_p.R102C|NREP_ENST00000509979.1_3'UTR|NREP_ENST00000257435.7_Missense_Mutation_p.R58C|NREP_ENST00000508870.1_Missense_Mutation_p.R58C|NREP_ENST00000453526.2_Missense_Mutation_p.R58C|NREP_ENST00000446294.2_Missense_Mutation_p.R58C|NREP_ENST00000509025.1_Intron|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000515855.1_3'UTR|NREP_ENST00000450761.2_Missense_Mutation_p.R58C	NM_001142478.1	NP_001135950.1	Q16612	NP311_HUMAN	neuronal regeneration related protein	58						cytoplasm											CTTGGGGAGCGGAGTTCACTG	0.458000													26	82					0	0	0.003330	0	0
DIDO1	11083	broad.mit.edu	37	20	61542619	61542619	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr20:61542619C>T	ENST00000266070.4	-	3	671	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	DIDO1_ENST00000266071.5_Missense_Mutation_p.E116K|DIDO1_ENST00000370366.1_Missense_Mutation_p.E116K|DIDO1_ENST00000395335.2_Missense_Mutation_p.E116K|DIDO1_ENST00000395340.1_Missense_Mutation_p.E116K|DIDO1_ENST00000370368.1_Missense_Mutation_p.E116K|DIDO1_ENST00000354665.4_Missense_Mutation_p.E116K|DIDO1_ENST00000370371.4_Missense_Mutation_p.E116K|DIDO1_ENST00000395343.1_Missense_Mutation_p.E116K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	116					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAAGCGCTTTCCACGCTGCCC	0.637000													6	41					0	0	0.001984	0	0
KCNA3	3738	broad.mit.edu	37	1	111216780	111216780	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:111216780G>A	ENST00000369769.2	-	1	875	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	218						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACACCTGGCGCTGGAAGTCG	0.672000													9	58					0	0	0.006214	0	0
SREBF2	6721	broad.mit.edu	37	22	42294718	42294718	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr22:42294718G>T	ENST00000361204.4	+	15	2837	c.2671G>T	c.(2671-2673)Gac>Tac	p.D891Y	SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	891					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCTCCAGGGAGACGATGCAGC	0.567000													13	23					9.31168e-06	1.08544e-05	0.001855	1	0
GPR112	139378	broad.mit.edu	37	X	135429169	135429169	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:135429169G>T	ENST00000394143.1	+	6	3595	c.3304G>T	c.(3304-3306)Gca>Tca	p.A1102S	GPR112_ENST00000287534.4_Missense_Mutation_p.A1039S|GPR112_ENST00000412101.1_Missense_Mutation_p.A897S|GPR112_ENST00000394141.1_Missense_Mutation_p.A897S|GPR112_ENST00000370652.1_Missense_Mutation_p.A1102S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1102					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GACATCCATGGCAGTTCCTTC	0.478000													11	212					1.33987e-11	1.61935e-11	0.008291	1	0
CKAP2L	150468	broad.mit.edu	37	2	113514726	113514726	+	Translation_Start_Site	SNP	G	G	C	rs77207496	byFrequency	TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:113514726G>C	ENST00000541405.1	-	0	250				CKAP2L_ENST00000302450.6_Missense_Mutation_p.I74M|CKAP2L_ENST00000481732.1_5'UTR			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like							centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GTTTAATGCTGATGGACCTTT	0.413000													7	183					0	0	0.003080	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475597	42475597	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:42475597G>A	ENST00000434000.1	-	9	3896	c.3614C>T	c.(3613-3615)gCa>gTa	p.A1205V	GPATCH8_ENST00000591680.1_Missense_Mutation_p.A1283V			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1283						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ACTGGGAGGTGCATAACTGGG	0.592000													7	177					0	0	0.003080	0	0
FLT3	2322	broad.mit.edu	37	13	28609671	28609671	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr13:28609671G>C	ENST00000380982.4	-	12	1639	c.1558C>G	c.(1558-1560)Ctt>Gtt	p.L520V	FLT3_ENST00000537084.1_Missense_Mutation_p.L520V|FLT3_ENST00000241453.7_Missense_Mutation_p.L520V			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	520					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.L520I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GATGTGCCAAGGGAATTGTAT	0.453000			"""Mis, O"""		"""AML, ALL"""								5	84					0	0	0.001984	0	0
FSCB	84075	broad.mit.edu	37	14	44975153	44975153	+	Silent	SNP	A	A	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr14:44975153A>T	ENST00000340446.4	-	1	1329	c.1038T>A	c.(1036-1038)ctT>ctA	p.L346L		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	346	Pro-rich.					cilium				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)		TTTCAGCCAGAAGCTCTACAG	0.507000													13	111					0	0	0.002450	0	0
ARRDC4	91947	broad.mit.edu	37	15	98512388	98512388	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr15:98512388T>C	ENST00000268042.6	+	5	825	c.661T>C	c.(661-663)Tgt>Cgt	p.C221R	ARRDC4_ENST00000538249.1_Missense_Mutation_p.C134R	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	221					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			AATAGAAAATTGTTCCTCTCG	0.393000													15	43					0	0	0.003163	0	0
DDX59	83479	broad.mit.edu	37	1	200619738	200619738	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:200619738C>G	ENST00000447706.2	-	5	1280	c.1129G>C	c.(1129-1131)Gat>Cat	p.D377H	DDX59_ENST00000367348.3_Missense_Mutation_p.D377H|DDX59_ENST00000331314.6_Missense_Mutation_p.D377H			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	377	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						GTCTGACAATCATTAGGAATG	0.353000													3	39					0	0	0.009096	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110451310	110451310	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr11:110451310C>G	ENST00000260283.4	-	16	2644	c.2360G>C	c.(2359-2361)gGa>gCa	p.G787A	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.G761A|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.G330A|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.G764A|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.G761A|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.G751A|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.G751A	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	787					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CACGTGATTTCCTTCACTACC	0.413000													5	97					0	0	0.000602	0	0
EVC	2121	broad.mit.edu	37	4	5800433	5800433	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:5800433A>G	ENST00000382674.2	+	15	2402	c.2218A>G	c.(2218-2220)Atg>Gtg	p.M740V	EVC_ENST00000515113.1_3'UTR|EVC_ENST00000264956.6_Missense_Mutation_p.M740V			P57679	EVC_HUMAN	Ellis van Creveld syndrome	740					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GCAGCAGCACATGGAGTGCGC	0.652000													6	15					0	0	0.001168	0	0
TMEM130	222865	broad.mit.edu	37	7	98446224	98446224	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:98446224C>T	ENST00000450876.1	-	7	2164	c.849G>A	c.(847-849)caG>caA	p.Q283Q	TMEM130_ENST00000546258.1_Silent_p.Q348Q|TMEM130_ENST00000345589.4_Silent_p.Q265Q|TMEM130_ENST00000339375.4_Silent_p.Q367Q|TMEM130_ENST00000416379.2_Silent_p.Q367Q			Q8N3G9	TM130_HUMAN	transmembrane protein 130	367						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGTCCTTTTGCTGAGTGGCAT	0.557000													13	67					0	0	0.001855	0	0
PEG3	5178	broad.mit.edu	37	19	57327549	57327549	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr19:57327549G>A	ENST00000326441.9	-	10	2624	c.2261C>T	c.(2260-2262)tCt>tTt	p.S754F	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S754F|PEG3_ENST00000593695.1_Missense_Mutation_p.S628F|PEG3_ENST00000598410.1_Missense_Mutation_p.S630F|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	754					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)		ATAGGGGTTAGAGCTAATGGT	0.413000													10	164					0	0	0.010729	0	0
MIER3	166968	broad.mit.edu	37	5	56234739	56234739	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr5:56234739C>G	ENST00000381226.3	-	4	316	c.301G>C	c.(301-303)Gat>Cat	p.D101H	MIER3_ENST00000381199.3_Missense_Mutation_p.D96H|MIER3_ENST00000409421.1_Missense_Mutation_p.D33H|MIER3_ENST00000381213.3_Missense_Mutation_p.D96H			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		GGTAGTTCATCTGCCAGTTCA	0.393000													6	63					0	0	0.001168	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870209	151870209	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:151870209C>A	ENST00000329342.5	+	3	1124	c.899C>A	c.(898-900)tCc>tAc	p.S300Y		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	300	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGCATTTCCTACCCACTC	0.562000													7	227					5.18039e-06	6.07463e-06	0.003080	1	0
SURF1	6834	broad.mit.edu	37	9	136220669	136220669	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr9:136220669G>A	ENST00000371974.3	-	5	481	c.450C>T	c.(448-450)ggC>ggT	p.G150G	SURF1_ENST00000495952.1_5'UTR	NM_003172.2	NP_003163.1	Q15526	SURF1_HUMAN	surfeit 1	150					aerobic respiration|respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			breast(2)|endometrium(1)|ovary(2)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)		AGGAGATGAGGCCGCCCTCCC	0.617000													8	176					0	0	0.003080	0	0
SOD3	6649	broad.mit.edu	37	4	24801554	24801554	+	Silent	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:24801554G>C	ENST00000382120.3	+	2	616	c.411G>C	c.(409-411)gtG>gtC	p.V137V		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	137					removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding			prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				CGCTGGCCGTGCCGCACCCGC	0.751000													4	26					0	0	0.009096	0	0
LNX2	222484	broad.mit.edu	37	13	28136648	28136648	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr13:28136648C>A	ENST00000316334.3	-	5	1255	c.1126G>T	c.(1126-1128)Gcc>Tcc	p.A376S		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	376	PDZ 2.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CCGTCCTGGGCAGCCAACCCC	0.532000													20	150					1.1804e-14	1.43542e-14	0.003954	1	0
AHNAK2	113146	broad.mit.edu	37	14	105411954	105411954	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr14:105411954G>A	ENST00000333244.5	-	7	9953	c.9834C>T	c.(9832-9834)gtC>gtT	p.V3278V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3278						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGGGGCCTCGACGTCCACCT	0.607000													30	234					0	0	0.008361	0	0
FEZF1	389549	broad.mit.edu	37	7	121942917	121942917	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:121942917G>A	ENST00000442488.2	-	3	1072	c.1005C>T	c.(1003-1005)acC>acT	p.T335T	FEZF1_ENST00000331178.4_Silent_p.T331T|FEZF1_ENST00000427185.2_Silent_p.T285T	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	335					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CGTGTATTCGGGTATGAGTGT	0.408000													26	62					0	0	0.003954	0	0
EFEMP1	2202	broad.mit.edu	37	2	56097911	56097911	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:56097911T>G	ENST00000394555.2	-	10	1699	c.1264A>C	c.(1264-1266)Acc>Ccc	p.T422P	EFEMP1_ENST00000394554.1_Missense_Mutation_p.T422P|EFEMP1_ENST00000355426.3_Missense_Mutation_p.T422P|EFEMP1_ENST00000424836.2_Missense_Mutation_p.T284P	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	422	Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTATTGATGGTGTTGGCATAA	0.418000													3	58					0	0	0.009096	0	0
OR4C6	219432	broad.mit.edu	37	11	55432901	55432901	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr11:55432901A>G	ENST00000314259.3	+	1	288	c.259A>G	c.(259-261)Agc>Ggc	p.S87G		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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						CCTCTCCAAGAGCACTACCAT	0.493000													3	82					0	0	0.004672	0	0
FAT1	2195	broad.mit.edu	37	4	187629100	187629100	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:187629100G>A	ENST00000441802.2	-	2	2091	c.1882C>T	c.(1882-1884)Cga>Tga	p.R628*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	628	Cadherin 5.				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.R628*(2)		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						ATTAGCGATCGCTTTAATGAC	0.403000										HNSCC(5;0.00058)			6	63					0	0	0.001984	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38148029	38148029	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr8:38148029C>T	ENST00000317025.8	-	17	3599	c.3082G>A	c.(3082-3084)Gaa>Aaa	p.E1028K	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.E1028K|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.E979K	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1028					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GTCTGCCCTTCAGCAAAGCTT	0.443000			T	NUP98	AML								8	171					0	0	0.003080	0	0
SLC35G5	83650	broad.mit.edu	37	8	11188846	11188846	+	Silent	SNP	C	C	T	rs148317481		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr8:11188846C>T	ENST00000382435.4	+	1	450	c.231C>T	c.(229-231)tgC>tgT	p.C77C		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	77	DUF6 1.					integral to membrane											TCTGTCGATGCCTCTTCCACC	0.627000													29	246					0	0	0.007291	0	0
MPPED1	758	broad.mit.edu	37	22	43870809	43870809	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr22:43870809C>T	ENST00000417669.1	+	4	1044	c.600C>T	c.(598-600)acC>acT	p.T200T	MPPED1_ENST00000414469.2_Silent_p.T94T|MPPED1_ENST00000538182.1_Silent_p.T233T|MPPED1_ENST00000443721.1_Silent_p.T200T|MPPED1_ENST00000439548.1_Silent_p.T42T|MPPED1_ENST00000542779.1_Silent_p.T200T			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	200							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CGGAGGTCACCGTGCGGGGCT	0.592000													24	54					0	0	0.006320	0	0
COCH	1690	broad.mit.edu	37	14	31358870	31358870	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr14:31358870T>G	ENST00000460581.2	+	10	1736	c.1190T>G	c.(1189-1191)cTg>cGg	p.L397R	COCH_ENST00000216361.4_Missense_Mutation_p.L509R|COCH_ENST00000475087.1_Intron|RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000382493.4_Missense_Mutation_p.L360R|COCH_ENST00000396618.3_Missense_Mutation_p.L509R|RP11-829H16.3_ENST00000555108.1_RNA			O43405	COCH_HUMAN	cochlin	509	VWFA 2.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CTGGATGACCTGAAAGATATG	0.388000													7	39					0	0	0.006214	0	0
MYO1C	4641	broad.mit.edu	37	17	1387008	1387008	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:1387008G>A	ENST00000359786.5	-	3	567	c.243C>T	c.(241-243)ggC>ggT	p.G81G	MYO1C_ENST00000361007.2_Silent_p.G46G|MYO1C_ENST00000438665.2_Silent_p.G62G|MYO1C_ENST00000575158.1_Silent_p.G46G|MYO1C_ENST00000545534.2_Silent_p.G57G	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	81	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCAGGACGGGGCCAATGTAGG	0.592000													3	16					0	0	0.004672	0	0
CUL4B	8450	broad.mit.edu	37	X	119660660	119660660	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:119660660C>T	ENST00000371322.5	-	20	2705	c.2644G>A	c.(2644-2646)Gaa>Aaa	p.E882K	CUL4B_ENST00000404115.3_Missense_Mutation_p.E900K|CUL4B_ENST00000336592.6_Missense_Mutation_p.E887K	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	900					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTATCTCTTTCCATGTAGTCC	0.373000													26	56					0	0	0.006320	0	0
ATP10B	23120	broad.mit.edu	37	5	160033923	160033923	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr5:160033923C>T	ENST00000327245.5	-	19	3855	c.3009G>A	c.(3007-3009)ttG>ttA	p.L1003L		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1003					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATGGCATTCAATGTCTTCC	0.512000													5	111					0	0	0.000602	0	0
UBQLN4	56893	broad.mit.edu	37	1	156020169	156020169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:156020169C>T	ENST00000368309.3	-	4	746	c.654G>A	c.(652-654)atG>atA	p.M218I	UBQLN4_ENST00000472638.1_Intron|UBQLN4_ENST00000368307.1_Intron	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	218						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	p.M218I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					TGGCCATAATCATGTGACGCA	0.522000													6	137					0	0	0.001984	0	0
EDC4	23644	broad.mit.edu	37	16	67913808	67913808	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr16:67913808G>T	ENST00000358933.5	+	16	2116	c.1877G>T	c.(1876-1878)aGc>aTc	p.S626I		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	626	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		agcagcagtagcagcagcTCC	0.607000													20	49					5.35267e-07	6.31422e-07	0.007413	1	0
SIRT5	23408	broad.mit.edu	37	6	13601120	13601120	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:13601120G>T	ENST00000606117.1	+	9	1092	c.796G>T	c.(796-798)Gcc>Tcc	p.A266S	SIRT5_ENST00000359782.3_Missense_Mutation_p.A248S|SIRT5_ENST00000397350.2_Missense_Mutation_p.A158S|SIRT5_ENST00000379262.4_Missense_Mutation_p.A266S	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	sirtuin 5	266	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	CCAGGTGGCTGCCAGGGGCGT	0.577000													7	39					0.000274275	0.000307001	0.004482	1	0
TESK1	7016	broad.mit.edu	37	9	35609464	35609464	+	Silent	SNP	C	C	A	rs142237307	byFrequency	TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr9:35609464C>A	ENST00000336395.5	+	10	1856	c.1606C>A	c.(1606-1608)Cgg>Agg	p.R536R	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	536					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCCTGGAACCGGGCCCAGCA	0.687000													18	28					1.67942e-08	2.00512e-08	0.006122	1	0
AOC3	8639	broad.mit.edu	37	17	41004139	41004139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:41004139C>T	ENST00000308423.2	+	1	939	c.779C>T	c.(778-780)aCt>aTt	p.T260I		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	260					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			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)	GCCCGCTGGACTATCCAGAAG	0.597000													9	40					0	0	0.006214	0	0
ZNF527	84503	broad.mit.edu	37	19	37880095	37880095	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr19:37880095G>T	ENST00000436120.2	+	5	1251	c.1144G>T	c.(1144-1146)Ggt>Tgt	p.G382C	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATTCACACAGGTGAGAAACC	0.433000													8	38					1.12685e-05	1.30582e-05	0.004482	1	0
SIRT7	51547	broad.mit.edu	37	17	79872320	79872320	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:79872320G>A	ENST00000328666.6	-	7	728	c.666C>T	c.(664-666)ggC>ggT	p.G222G		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	222	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGCAGGTCCGGCCTGTCTGGT	0.632000													9	28					0	0	0.010729	0	0
RBBP6	5930	broad.mit.edu	37	16	24552017	24552017	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr16:24552017A>G	ENST00000319715.4	+	1	502	c.70A>G	c.(70-72)Atc>Gtc	p.I24V	RBBP6_ENST00000348022.2_Missense_Mutation_p.I24V|RBBP6_ENST00000381039.3_Missense_Mutation_p.I24V|RBBP6_ENST00000452655.2_Missense_Mutation_p.I24V	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	24	DWNN.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TGGGCTCCACATCTCCCTCTG	0.483000													14	59					0	0	0.004007	0	0
KIAA0100	9703	broad.mit.edu	37	17	26948139	26948139	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:26948139G>A	ENST00000528896.2	-	28	5183	c.5109C>T	c.(5107-5109)atC>atT	p.I1703I	KIAA0100_ENST00000544884.1_Silent_p.I1560I|KIAA0100_ENST00000389003.3_Silent_p.I1560I	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1703						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AACGCGAAATGATCCGCTGGA	0.448000													4	64					0	0	0.009096	0	0
LDHC	3948	broad.mit.edu	37	11	18467778	18467778	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr11:18467778G>A	ENST00000541669.1	+	7	843	c.732G>A	c.(730-732)ctG>ctA	p.L244L	LDHC_ENST00000537486.1_Intron|LDHC_ENST00000535809.1_Intron|LDHC_ENST00000544105.1_Intron|LDHC_ENST00000536880.1_Silent_p.L230L|LDHC_ENST00000280704.4_Silent_p.L244L|LDHC_ENST00000546146.1_Intron			P07864	LDHC_HUMAN	lactate dehydrogenase C	244					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	TTATCAAGCTGAAGGGGTATA	0.373000													6	78					0	0	0.003080	0	0
TGFBR2	7048	broad.mit.edu	37	3	30715720	30715720	+	Missense_Mutation	SNP	C	C	T	rs104893811		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr3:30715720C>T	ENST00000295754.5	+	5	1760	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R485C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	460	Protein kinase.		R -> C (in AAT3).|R -> H (in AAT3).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AATGACATCTCGCTGTAATGC	0.458000													7	63					0	0	0.004482	0	0
GALNT14	79623	broad.mit.edu	37	2	31215732	31215732	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:31215732G>A	ENST00000349752.5	-	2	910	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	GALNT14_ENST00000420311.2_Missense_Mutation_p.R56W|GALNT14_ENST00000406653.1_Missense_Mutation_p.R71W|GALNT14_ENST00000356174.3_Missense_Mutation_p.R91W|GALNT14_ENST00000324589.5_Intron	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	91						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGGATGGCCCGATTGCTGGAG	0.562000													6	89					0	0	0.001168	0	0
DMRTB1	63948	broad.mit.edu	37	1	53930414	53930414	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:53930414G>A	ENST00000371445.3	+	3	910	c.855G>A	c.(853-855)ccG>ccA	p.P285P		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	285	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						AGTTCCTCCCGCCAGGCTACC	0.647000													13	73					0	0	0.013537	0	0
SERAC1	84947	broad.mit.edu	37	6	158565392	158565392	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:158565392C>T	ENST00000367102.2	-	7	689	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	SERAC1_ENST00000367104.3_Missense_Mutation_p.R183Q|SERAC1_ENST00000367101.1_Missense_Mutation_p.R183Q			Q96JX3	SRAC1_HUMAN	serine active site containing 1	183					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CTCTTCGCTTCGTGCCAAACC	0.338000													4	47					0	0	0.009096	0	0
AFAP1	60312	broad.mit.edu	37	4	7873772	7873772	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:7873772G>C	ENST00000420658.1	-	2	306	c.34C>G	c.(34-36)Ctt>Gtt	p.L12V	AFAP1_ENST00000360265.4_Missense_Mutation_p.L12V|AFAP1_ENST00000382543.3_Missense_Mutation_p.L12V|AFAP1_ENST00000358461.2_Missense_Mutation_p.L12V	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	12						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						AGGAGTTCAAGAAAGAGACGA	0.383000													3	61					0	0	0.004672	0	0
CHD8	57680	broad.mit.edu	37	14	21870656	21870656	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr14:21870656C>T	ENST00000399982.2	-	18	3785	c.3721G>A	c.(3721-3723)Gca>Aca	p.A1241T	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.A962T|CHD8_ENST00000557364.1_Missense_Mutation_p.A1241T	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1241	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TGACATCGTGCCTGGGCCTGG	0.413000													17	26					0	0	0.006122	0	0
PSG1	5669	broad.mit.edu	37	19	43382262	43382262	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr19:43382262T>C	ENST00000244296.2	-	2	370	c.233A>G	c.(232-234)tAc>tGc	p.Y78C	PSG1_ENST00000595124.1_Missense_Mutation_p.Y78C|PSG1_ENST00000595356.1_Missense_Mutation_p.Y78C|PSG1_ENST00000436291.2_Missense_Mutation_p.Y78C|PSG1_ENST00000403380.3_Missense_Mutation_p.Y78C|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000312439.6_Missense_Mutation_p.Y78C	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGATGTAATGTAATGGTAGAG	0.433000													63	268					0	0	0.014410	0	0
UNC79	57578	broad.mit.edu	37	14	94060062	94060062	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr14:94060062G>A	ENST00000553484.1	+	23	3223	c.3069G>A	c.(3067-3069)ctG>ctA	p.L1023L	UNC79_ENST00000256339.4_Silent_p.L846L|UNC79_ENST00000555664.1_Silent_p.L1023L|UNC79_ENST00000393151.2_Silent_p.L1023L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1023						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCTCTCAGCTGTCTTCCCTGG	0.473000													27	108					0	0	0.005443	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99654858	99654858	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:99654858G>A	ENST00000292450.4	+	2	393	c.229G>A	c.(229-231)Gag>Aag	p.E77K	ZSCAN21_ENST00000456748.2_Missense_Mutation_p.E77K|ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E77K	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	77	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GCTGAGGCCCGAGATCCACAC	0.637000													5	40					0	0	0.000602	0	0
NUP98	4928	broad.mit.edu	37	11	3727721	3727721	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr11:3727721G>C	ENST00000324932.7	-	21	3299	c.2879C>G	c.(2878-2880)tCa>tGa	p.S960*	NUP98_ENST00000359171.4_Nonsense_Mutation_p.S960*|NUP98_ENST00000355260.3_Nonsense_Mutation_p.S960*	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	977					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AATATGTGTTGAGGCAGACAC	0.423000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								4	127					0	0	0.009096	0	0
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													3	64					0	0	0.009096	0	0
ZBTB49	166793	broad.mit.edu	37	4	4314793	4314793	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:4314793G>A	ENST00000337872.4	+	5	1449	c.1328G>A	c.(1327-1329)cGa>cAa	p.R443Q	ZBTB49_ENST00000538529.1_Intron|ZBTB49_ENST00000355834.3_Intron	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R443Q(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						ACTCACTTACGACGGCATTCT	0.408000													7	50					0	0	0.001984	0	0
ZNF48	197407	broad.mit.edu	37	16	30410135	30410135	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr16:30410135G>T	ENST00000320159.2	+	2	1940	c.1564G>T	c.(1564-1566)Ggc>Tgc	p.G522C		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	522	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						TAACCCACCTGGCCCAGTACC	0.677000													5	110					0.00116845	0.00130047	0.001168	1	0
THBS2	7058	broad.mit.edu	37	6	169648845	169648845	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:169648845C>G	ENST00000366787.3	-	4	525	c.276G>C	c.(274-276)caG>caC	p.Q92H		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	92	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ACTTGCCGTCCTGCTTGAGCT	0.622000													8	65					0	0	0.003080	0	0
C16orf45	89927	broad.mit.edu	37	16	15677026	15677026	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr16:15677026G>A	ENST00000300006.4	+	5	792	c.433G>A	c.(433-435)Gac>Aac	p.D145N	C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000561692.1_Missense_Mutation_p.D97N|C16orf45_ENST00000452191.2_Missense_Mutation_p.D128N|C16orf45_ENST00000566490.1_Intron	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	145										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						GCAAGAAGAAGACAAGGAAAT	0.388000													17	104					0	0	0.004990	0	0
OGT	8473	broad.mit.edu	37	X	70787880	70787880	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:70787880C>T	ENST00000373719.3	+	21	3097	c.2880C>T	c.(2878-2880)ctC>ctT	p.L960L	OGT_ENST00000373701.3_Silent_p.L950L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	960					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CATCCCAGCTCACTTGCTTAG	0.383000													16	110					0	0	0.004007	0	0
ARFGAP1	55738	broad.mit.edu	37	20	61914181	61914181	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr20:61914181T>G	ENST00000370275.4	+	9	787	c.695T>G	c.(694-696)tTt>tGt	p.F232C	ARFGAP1_ENST00000353546.3_Missense_Mutation_p.F232C|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.F119C|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.F179C|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.F158C|ARFGAP1_ENST00000370283.4_Missense_Mutation_p.F232C			Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	232					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GCTACAAAGTTTGGATCCCAA	0.507000													15	42					0	0	0.003163	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313527	1313527	+	Silent	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:1313527C>G	ENST00000296839.2	+	1	853	c.588C>G	c.(586-588)ctC>ctG	p.L196L		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	196					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		ACTGGATGCTCAACCCCAACA	0.711000													3	62					0	0	0.009096	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140799566	140799566	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr5:140799566C>T	ENST00000398594.2	+	1	2140	c.2140C>T	c.(2140-2142)Cgc>Tgc	p.R714C	PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTGCTCTACGCCTGCGACA	0.552000													26	54					0	0	0.003954	0	0
CUZD1	50624	broad.mit.edu	37	10	124598737	124598737	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr10:124598737C>T	ENST00000368904.1	-	5	1193	c.244G>A	c.(244-246)Gat>Aat	p.D82N	CUZD1_ENST00000545804.1_Missense_Mutation_p.D82N|CUZD1_ENST00000392790.1_Missense_Mutation_p.D82N			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	82	CUB 1.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CAGCTTCCATCTGGATCAAGC	0.453000													7	107					0	0	0.003080	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85163919	85163919	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr15:85163919G>C	ENST00000448803.2	+	3	785	c.493G>C	c.(493-495)Gaa>Caa	p.E165Q	ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E165Q|ZSCAN2_ENST00000541040.1_Missense_Mutation_p.E165Q|ZSCAN2_ENST00000485222.2_Missense_Mutation_p.E165Q|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.E15Q|ZSCAN2_ENST00000538076.1_Missense_Mutation_p.E165Q|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E164Q	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	165					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GGAAATGCCTGAAGGTGAAAG	0.473000													6	119					0	0	0.001168	0	0
CIT	11113	broad.mit.edu	37	12	120166409	120166409	+	Silent	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr12:120166409G>C	ENST00000392521.2	-	28	3544	c.3489C>G	c.(3487-3489)ctC>ctG	p.L1163L	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.L1121L	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1121	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCAGGTCATTGAGCTAGACAT	0.438000													7	143					0	0	0.001984	0	0
LRP1B	53353	broad.mit.edu	37	2	141250263	141250263	+	Splice_Site	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:141250263C>G	ENST00000389484.3	-	57	10006		c.e57-1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGTTCTTCATCTAAACACCAA	0.338000										TSP Lung(27;0.18)			6	67					0	0	0.001168	0	0
ETV7	51513	broad.mit.edu	37	6	36334462	36334462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:36334462C>T	ENST00000373738.1	-	7	1666	c.821G>A	c.(820-822)aGa>aAa	p.R274K	ETV7_ENST00000373737.4_Missense_Mutation_p.R252K|ETV7_ENST00000538992.1_Missense_Mutation_p.R178K|ETV7_ENST00000339796.5_Intron|ETV7_ENST00000340181.4_Missense_Mutation_p.R329K	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7	329					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						GAACTCTATTCTGTCCTGCTC	0.577000													6	149					0	0	0.001168	0	0
FAR2	55711	broad.mit.edu	37	12	29486610	29486610	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr12:29486610C>T	ENST00000182377.4	+	12	1699	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	FAR2_ENST00000547116.1_Silent_p.I380I|FAR2_ENST00000536681.2_Silent_p.I477I	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	477					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TCTTCCTTATCGCCTGGCGCC	0.428000													12	185					0	0	0.013537	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													3	41					0	0	0.004672	0	0
UTRN	7402	broad.mit.edu	37	6	145103095	145103095	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:145103095C>G	ENST00000367545.3	+	60	8670	c.8670C>G	c.(8668-8670)ttC>ttG	p.F2890L	UTRN_ENST00000367526.4_Missense_Mutation_p.F445L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2890	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATGAAATTTTCAAACAGCACA	0.368000													4	37					0	0	0.000602	0	0
ZNF471	57573	broad.mit.edu	37	19	57037232	57037232	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr19:57037232A>G	ENST00000308031.5	+	5	1929	c.1796A>G	c.(1795-1797)tAt>tGt	p.Y599C	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CAAAGGCCCTATCAGTGTTTT	0.413000													10	42					0	0	0.006214	0	0
SOAT2	8435	broad.mit.edu	37	12	53509201	53509201	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr12:53509201C>T	ENST00000301466.3	+	6	531	c.471C>T	c.(469-471)atC>atT	p.I157I		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	157					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						ACCTACTGATCTTCAGCTTCG	0.582000													3	42					0	0	0.000602	0	0
TEX101	83639	broad.mit.edu	37	19	43920038	43920038	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr19:43920038G>C	ENST00000602198.1	+	4	463	c.21G>C	c.(19-21)caG>caC	p.Q7H	TEX101_ENST00000598265.1_5'UTR|TEX101_ENST00000253435.7_Missense_Mutation_p.Q7H|TEX101_ENST00000601707.1_3'UTR	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	0						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				CACAGATCCAGACCAGCTCCT	0.527000													10	241					0	0	0.006214	0	0
NKAP	79576	broad.mit.edu	37	X	119066122	119066122	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:119066122G>A	ENST00000371410.3	-	6	961	c.795C>T	c.(793-795)agC>agT	p.S265S	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	265	Necessary for interaction with CIR1.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						ATTCTTTAGAGCTTGAATCAC	0.343000													5	204					0	0	0.003080	0	0
IFIT2	3433	broad.mit.edu	37	10	91066451	91066451	+	Silent	SNP	A	A	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr10:91066451A>T	ENST00000371826.3	+	2	907	c.738A>T	c.(736-738)gtA>gtT	p.V246V	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	246					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				CCCCAGGTGTAACAGATGTTC	0.438000													19	54					0	0	0.007413	0	0
SREBF1	6720	broad.mit.edu	37	17	17718569	17718569	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:17718569G>A	ENST00000355815.4	-	14	2717	c.2548C>T	c.(2548-2550)Ccc>Tcc	p.P850S	SREBF1_ENST00000395757.1_Missense_Mutation_p.P566S|SREBF1_ENST00000261646.5_Missense_Mutation_p.P820S|SREBF1_ENST00000338854.5_Missense_Mutation_p.P820S	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	820					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CTGGGGTTGGGCTGGGTCACA	0.617000													8	104					0	0	0.008291	0	0
RNF139	11236	broad.mit.edu	37	8	125498991	125498991	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr8:125498991C>T	ENST00000303545.3	+	2	1473	c.1101C>T	c.(1099-1101)atC>atT	p.I367I		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	367					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TGCATTTTATCCATGGAATGA	0.423000													19	202					0	0	0.007413	0	0
CUX1	1523	broad.mit.edu	37	7	101838850	101838850	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:101838850G>A	ENST00000360264.3	+	14	1242	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T	CUX1_ENST00000292538.4_Missense_Mutation_p.A408T|CUX1_ENST00000292535.7_Missense_Mutation_p.A397T|CUX1_ENST00000437600.4_Missense_Mutation_p.A406T|CUX1_ENST00000393824.3_Missense_Mutation_p.A369T|CUX1_ENST00000549414.2_Missense_Mutation_p.A397T|CUX1_ENST00000556210.1_Missense_Mutation_p.A397T|CUX1_ENST00000546411.2_Missense_Mutation_p.A397T|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Missense_Mutation_p.A392T|CUX1_ENST00000550008.2_Missense_Mutation_p.A397T|CUX1_ENST00000425244.2_Missense_Mutation_p.A362T	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	397					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GTCCGAGAACGCCGCGCTGCG	0.682000													6	33					0	0	0.001168	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6534542	6534542	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:6534542G>A	ENST00000377748.1	-	7	1136	c.639C>T	c.(637-639)taC>taT	p.Y213Y	PLEKHG5_ENST00000377725.1_Silent_p.Y136Y|PLEKHG5_ENST00000535355.1_Silent_p.Y205Y|PLEKHG5_ENST00000544978.1_Silent_p.Y136Y|PLEKHG5_ENST00000537245.1_Silent_p.Y215Y|PLEKHG5_ENST00000340850.5_Silent_p.Y136Y|PLEKHG5_ENST00000377732.1_Silent_p.Y173Y|PLEKHG5_ENST00000377737.2_Silent_p.Y136Y|PLEKHG5_ENST00000377728.3_Silent_p.Y136Y|PLEKHG5_ENST00000377740.3_Silent_p.Y213Y|PLEKHG5_ENST00000400913.1_Silent_p.Y136Y|PLEKHG5_ENST00000400915.3_Silent_p.Y192Y	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	192					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCGAACCTGTAGGCCTCGA	0.607000													6	29					0	0	0.001984	0	0
IQGAP1	8826	broad.mit.edu	37	15	91020962	91020962	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr15:91020962G>C	ENST00000268182.5	+	26	3294	c.3170G>C	c.(3169-3171)aGt>aCt	p.S1057T	IQGAP1_ENST00000560738.1_Missense_Mutation_p.S485T	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1057	C1.|Ras-GAP.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATGGTTGTAAGTTTCAACCGT	0.408000													5	55					0	0	0.001168	0	0
NDUFB10	4716	broad.mit.edu	37	16	2011519	2011519	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr16:2011519C>G	ENST00000543683.2	+	3	373	c.291C>G	c.(289-291)atC>atG	p.I97M	NDUFB10_ENST00000569148.1_Missense_Mutation_p.I86M|NDUFB10_ENST00000268668.6_Missense_Mutation_p.I97M			O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	97					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			lung(1)|urinary_tract(1)	2					NADH(DB00157)	AAGAAATTATCAACATTATGC	0.473000													6	192					0	0	0.001168	0	0
CELA2A	63036	broad.mit.edu	37	1	15789236	15789236	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:15789236G>C	ENST00000359621.4	+	4	261	c.236G>C	c.(235-237)aGg>aCg	p.R79T		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	79	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						AGCTCCTCCAGGACCTACCGC	0.617000													29	59					0	0	0.006320	0	0
THOC2	57187	broad.mit.edu	37	X	122820424	122820424	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:122820424G>C	ENST00000245838.8	-	8	773	c.742C>G	c.(742-744)Ctt>Gtt	p.L248V	THOC2_ENST00000491737.1_Missense_Mutation_p.L133V|THOC2_ENST00000355725.4_Missense_Mutation_p.L248V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	248					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTGAACCCAAGAATATGACAC	0.299000													6	49					0	0	0.001984	0	0
CACNA2D1	781	broad.mit.edu	37	7	81714097	81714097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:81714097G>A	ENST00000356860.3	-	7	984	c.646C>T	c.(646-648)Cga>Tga	p.R216*	CACNA2D1_ENST00000423588.1_Nonsense_Mutation_p.R216*|CACNA2D1_ENST00000356253.5_Nonsense_Mutation_p.R216*	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	216						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)	GGATAATATCGAGCTAGGCCA	0.423000													13	45					0	0	0.013537	0	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													4	72					0	0	0.009096	0	0
DNAH17	8632	broad.mit.edu	37	17	76506502	76506502	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:76506502G>A	ENST00000389840.5	-	27	4312	c.4188C>T	c.(4186-4188)atC>atT	p.I1396I	DNAH17_ENST00000585328.1_Silent_p.I1397I					dynein, axonemal, heavy chain 17											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)			CCTTGTCCACGATGTTGCGGA	0.532000													7	199					0	0	0.001984	0	0
ATP2B3	492	broad.mit.edu	37	X	152821580	152821580	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:152821580C>T	ENST00000370186.1	+	12	2416	c.2090C>T	c.(2089-2091)aCg>aTg	p.T697M	ATP2B3_ENST00000349466.2_Missense_Mutation_p.T711M|ATP2B3_ENST00000370181.2_Missense_Mutation_p.T697M|ATP2B3_ENST00000393842.1_Missense_Mutation_p.T697M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.T711M|ATP2B3_ENST00000359149.3_Missense_Mutation_p.T711M			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	711					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AACATCAACACGGCCCGGGCC	0.592000													26	99					0	0	0.005443	0	0
MIR222	407007	broad.mit.edu	37	X	45606471	45606471	+	RNA	SNP	C	C	T	rs72631825		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:45606471C>T	ENST00000384992.1	-	0	59					NR_029636.1																						CTGCTGATTACGAAAGACAGG	0.493000													5	24					0	0	0.001168	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:178098810C>T	ENST00000397062.3	-	2	789	c.235G>A	c.(235-237)Gag>Aag	p.E79K	NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63K|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63K	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			5	58					0	0	0.000602	0	0
RBM24	221662	broad.mit.edu	37	6	17291995	17291995	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:17291995C>T	ENST00000379052.5	+	4	592	c.356C>T	c.(355-357)gCc>gTc	p.A119V	RBM24_ENST00000318204.5_Missense_Mutation_p.A74V|RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000425446.2_Missense_Mutation_p.A61V	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	119					cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			AGGATACCTGCCCACTATGTC	0.483000													26	162					0	0	0.009535	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140810887	140810887	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr5:140810887C>T	ENST00000252085.3	+	1	703	c.561C>T	c.(559-561)gaC>gaT	p.D187D	PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGAGCCGACGGTAGTAAGT	0.607000													9	132					0	0	0.006214	0	0
ACBD5	91452	broad.mit.edu	37	10	27512312	27512312	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr10:27512312T>A	ENST00000396271.3	-	5	571	c.445A>T	c.(445-447)Att>Ttt	p.I149F	ACBD5_ENST00000375897.3_Missense_Mutation_p.I40F|ACBD5_ENST00000375901.1_Missense_Mutation_p.I40F|ACBD5_ENST00000375888.1_Missense_Mutation_p.I147F|ACBD5_ENST00000375905.4_Missense_Mutation_p.I114F|ACBD5_ENST00000476758.1_5'UTR	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	147					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TCCTCGACAATTTCATAAAAT	0.318000													3	51					0	0	0.004672	0	0
ARMC9	80210	broad.mit.edu	37	2	232123816	232123816	+	Splice_Site	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:232123816G>A	ENST00000349938.4	+	11	1220		c.e11+1		ARMC9_ENST00000483477.1_Splice_Site	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9								binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TCTGCGCTGGGTAGGTACCTT	0.438000													11	27					0	0	0.008291	0	0
UTS2R	2837	broad.mit.edu	37	17	80332288	80332288	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:80332288G>A	ENST00000313135.2	+	1	136	c.88G>A	c.(88-90)Gca>Aca	p.A30T		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	30						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CGGCCCCAACGCAACCCTCAA	0.711000													3	14					0	0	0.009096	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618162	77618162	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr8:77618162C>T	ENST00000521891.2	+	2	2287	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	ZFHX4_ENST00000050961.6_Silent_p.I613I|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.I613I|ZFHX4_ENST00000455469.2_Silent_p.I613I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	613						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAGTGGCATCGAGTGTCCAA	0.557000										HNSCC(33;0.089)			6	80					0	0	0.001168	0	0
C1orf198	84886	broad.mit.edu	37	1	230979431	230979431	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:230979431C>T	ENST00000366663.5	-	3	736	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	C1orf198_ENST00000470540.1_Missense_Mutation_p.R161Q|C1orf198_ENST00000523410.1_Missense_Mutation_p.R69Q|C1orf198_ENST00000427697.2_5'UTR	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	199										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCCCTCCCCTCGGGACCGCTC	0.627000													24	111					0	0	0.014323	0	0
DPP9	91039	broad.mit.edu	37	19	4704050	4704050	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr19:4704050G>A	ENST00000262960.9	-	7	894	c.617C>T	c.(616-618)cCg>cTg	p.P206L	DPP9_ENST00000594671.1_Missense_Mutation_p.P177L|DPP9_ENST00000598800.1_Missense_Mutation_p.P177L|DPP9_ENST00000597849.1_Missense_Mutation_p.P206L	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	177					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GATTTCCAGCGGTTTCATAGG	0.632000													8	41					0	0	0.004482	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412284	139412284	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr9:139412284T>G	ENST00000277541.6	-	8	1436	c.1361A>C	c.(1360-1362)aAc>aCc	p.N454T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	454	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.N454delN(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GACGCACTCGTTGACGTCGAT	0.657000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			11	84					0	0	0.008291	0	0
HSPG2	3339	broad.mit.edu	37	1	22172685	22172685	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:22172685G>A	ENST00000374695.3	-	64	8459	c.8380C>T	c.(8380-8382)Cgg>Tgg	p.R2794W		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2794	Ig-like C2-type 13.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCATCACCCGGCACACGTAT	0.657000													15	29					0	0	0.004990	0	0
VPS13B	157680	broad.mit.edu	37	8	100832288	100832288	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr8:100832288G>C	ENST00000358544.2	+	49	9118	c.9007G>C	c.(9007-9009)Gaa>Caa	p.E3003Q	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.E2978Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3003					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGGCTATTTGAAGGAGAGAA	0.378000													4	105					0	0	0.009096	0	0
BAI1	575	broad.mit.edu	37	8	143569790	143569790	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr8:143569790C>T	ENST00000517894.1	+	14	3268	c.2374C>T	c.(2374-2376)Cgg>Tgg	p.R792W	BAI1_ENST00000323289.5_Missense_Mutation_p.R792W			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	792					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAAGGGCTGGCGGGCCACGGG	0.632000													5	119					0	0	0.001168	0	0
HYDIN	54768	broad.mit.edu	37	16	70867859	70867859	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr16:70867859C>A	ENST00000393567.2	-	79	13760	c.13610G>T	c.(13609-13611)gGa>gTa	p.G4537V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4537										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)				CACCACGGGTCCAAAGGGAAT	0.587000													7	11					2.17888e-05	2.49557e-05	0.006214	1	0
ZNF831	128611	broad.mit.edu	37	20	57766493	57766493	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr20:57766493A>G	ENST00000371030.2	+	1	419	c.419A>G	c.(418-420)aAt>aGt	p.N140S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	140						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAGGTGCGGAATGCGGGCAAG	0.672000													3	83					0	0	0.004672	0	0
CACNA1D	776	broad.mit.edu	37	3	53844020	53844020	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr3:53844020G>A	ENST00000288139.3	+	48	6065	c.5947G>A	c.(5947-5949)Ggc>Agc	p.G1983S	CACNA1D_ENST00000422281.2_Missense_Mutation_p.G1939S|CACNA1D_ENST00000544977.1_Missense_Mutation_p.R347Q|CACNA1D_ENST00000350061.5_Missense_Mutation_p.G1963S	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1963					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GGCAGTTGCCGGCCTAGATTC	0.612000													16	73					0	0	0.006122	0	0
NLRP6	171389	broad.mit.edu	37	11	281225	281225	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr11:281225C>G	ENST00000534750.1	+	4	1696	c.1491C>G	c.(1489-1491)ttC>ttG	p.F497L	NLRP6_ENST00000312165.5_Missense_Mutation_p.F497L	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	497	NACHT.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCTACCAGTTCATCGACCAGA	0.627000													5	122					0	0	0.000602	0	0
FAM47B	170062	broad.mit.edu	37	X	34961653	34961653	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:34961653C>T	ENST00000329357.5	+	1	741	c.705C>T	c.(703-705)ctC>ctT	p.L235L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	235	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGTCCAGTCTCCACCCGGAAC	0.637000													6	105					0	0	0.001984	0	0
TACC2	10579	broad.mit.edu	37	10	123970684	123970684	+	Silent	SNP	G	G	A	rs35532970		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr10:123970684G>A	ENST00000369005.1	+	9	7084	c.6744G>A	c.(6742-6744)tcG>tcA	p.S2248S	TACC2_ENST00000513429.1_Silent_p.S394S|TACC2_ENST00000515603.1_Silent_p.S2203S|TACC2_ENST00000368999.1_Silent_p.S326S|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000260733.3_Silent_p.S326S|TACC2_ENST00000369004.3_Silent_p.S326S|TACC2_ENST00000515273.1_Silent_p.S2252S|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000358010.1_Silent_p.S394S|TACC2_ENST00000360561.3_Silent_p.S326S|TACC2_ENST00000453444.2_Silent_p.S2252S|TACC2_ENST00000334433.3_Silent_p.S2248S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2248						microtubule organizing center|nucleus	nuclear hormone receptor binding			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)				TAACCCCATCGGATAGCGGGG	0.602000													5	55					0	0	0.000602	0	0
ZC3H13	23091	broad.mit.edu	37	13	46559752	46559752	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr13:46559752C>T	ENST00000242848.4	-	10	1748	c.1400G>A	c.(1399-1401)cGa>cAa	p.R467Q	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R467Q			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	467	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TAGTTCCCTTCGGTCCCTAGT	0.507000													12	181					0	0	0.013537	0	0
C3orf38	285237	broad.mit.edu	37	3	88205752	88205752	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr3:88205752G>A	ENST00000318887.3	+	3	1267	c.957G>A	c.(955-957)caG>caA	p.Q319Q	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	319					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		ATGTAAAGCAGGCTTCGGATA	0.408000													20	70					0	0	0.012319	0	0
C1orf168	199920	broad.mit.edu	37	1	57257877	57257877	+	Silent	SNP	G	G	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:57257877G>T	ENST00000343433.6	-	2	689	c.609C>A	c.(607-609)ccC>ccA	p.P203P	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	203										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GTAATATTTTGGGGGCCACCA	0.488000													9	123					2.17888e-05	2.49557e-05	0.006214	1	0
GLA	2717	broad.mit.edu	37	X	100662806	100662806	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:100662806G>A	ENST00000218516.3	-	1	107	c.86C>T	c.(85-87)gCt>gTt	p.A29V	RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	29					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	CAGTGCTCTAGCCCCAGGGAT	0.602000													5	137					0	0	0.000602	0	0
GGCX	2677	broad.mit.edu	37	2	85781368	85781368	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:85781368C>G	ENST00000233838.3	-	7	867	c.787G>C	c.(787-789)Gac>Cac	p.D263H	GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Missense_Mutation_p.D206H	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	263					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	GCTGAGAGGTCAAGCAGCAGC	0.507000													6	183					0	0	0.001984	0	0
FAT1	2195	broad.mit.edu	37	4	187630411	187630411	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:187630411G>A	ENST00000441802.2	-	2	780	c.571C>T	c.(571-573)Cga>Tga	p.R191*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	191	Cadherin 2.				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			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						ATATCTGTTCGATCTTTAAAA	0.433000										HNSCC(5;0.00058)			13	115					0	0	0.013537	0	0
RBBP7	5931	broad.mit.edu	37	X	16863980	16863980	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:16863980C>G	ENST00000380087.2	-	11	1540	c.1180G>C	c.(1180-1182)Gag>Cag	p.E394Q	RBBP7_ENST00000404022.1_Missense_Mutation_p.E385Q|RBBP7_ENST00000380084.4_Missense_Mutation_p.E438Q			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	394					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					ATGTTATCCTCAGACACTGAG	0.353000													4	45					0	0	0.009096	0	0
NEK5	341676	broad.mit.edu	37	13	52660423	52660423	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr13:52660423C>A	ENST00000355568.4	-	16	1608	c.1469G>T	c.(1468-1470)aGa>aTa	p.R490I		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	490							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CTCTGGTTCTCTCCCCATCTT	0.363000													13	42					0.000151284	0.000172272	0.001855	1	0
IBA57	200205	broad.mit.edu	37	1	228362900	228362900	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:228362900G>A	ENST00000366711.3	+	3	759	c.757G>A	c.(757-759)Gtg>Atg	p.V253M	IBA57_ENST00000546123.1_Missense_Mutation_p.V60M|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	253					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CATGAACGGCGTGAGCTTCAC	0.642000													10	92					0	0	0.008291	0	0
PCGF1	84759	broad.mit.edu	37	2	74733102	74733102	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:74733102C>T	ENST00000233630.6	-	5	1418	c.507G>A	c.(505-507)ttG>ttA	p.L169L	PCGF1_ENST00000480844.2_5'UTR	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	169					histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						GGCACAGGTTCAACTGCTCAT	0.577000													13	197					0	0	0.002450	0	0
TTC30A	92104	broad.mit.edu	37	2	178482118	178482118	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:178482118C>T	ENST00000355689.4	-	1	1576	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	438					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGATAATTTTCAAGATTCCAG	0.393000													4	100					0	0	0.001984	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	46					0	0	0.009096	0	0
OR4N5	390437	broad.mit.edu	37	14	20612585	20612585	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr14:20612585G>C	ENST00000333629.1	+	1	691	c.691G>C	c.(691-693)Gaa>Caa	p.E231Q		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GCACTCCTCTGAAGGAAAGAG	0.498000													3	123					0	0	0.004672	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													4	51					0	0	0.009096	0	0
MYOCD	93649	broad.mit.edu	37	17	12666526	12666526	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:12666526C>G	ENST00000425538.1	+	14	2726	c.2526C>G	c.(2524-2526)atC>atG	p.I842M	MYOCD_ENST00000343344.4_Missense_Mutation_p.I794M|RP11-1090M7.1_ENST00000584772.1_RNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	794					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCAGCCAGATCCCCTTTGATC	0.483000													6	110					0	0	0.001984	0	0
KCNJ8	3764	broad.mit.edu	37	12	21919137	21919137	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr12:21919137C>G	ENST00000240662.2	-	3	1140	c.795G>C	c.(793-795)ttG>ttC	p.L265F	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	265						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	GGCAGATGATCAAAGGGGCCA	0.478000													15	34					0	0	0.002450	0	0
RGS17	26575	broad.mit.edu	37	6	153347617	153347617	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:153347617T>G	ENST00000367225.2	-	2	205	c.181A>C	c.(181-183)Atg>Ctg	p.M61L	RGS17_ENST00000206262.1_Missense_Mutation_p.M61L			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	61					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		ATACTCTCCATTTTTGTAGTG	0.413000													31	79					0	0	0.008361	0	0
SOX3	6658	broad.mit.edu	37	X	139586097	139586097	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:139586097C>G	ENST00000370536.2	-	1	1128	c.1129G>C	c.(1129-1131)Gag>Cag	p.E377Q		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	377					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GAGCTGGGCTCAGACTTCACT	0.751000													4	16					0	0	0.009096	0	0
OR2M3	127062	broad.mit.edu	37	1	248366774	248366774	+	Silent	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:248366774C>G	ENST00000456743.1	+	1	443	c.405C>G	c.(403-405)ctC>ctG	p.L135L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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)			ACACCAATCTCATGAGCCCTA	0.438000													13	247					0	0	0.001855	0	0
NLRC5	84166	broad.mit.edu	37	16	57101666	57101666	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr16:57101666C>T	ENST00000436936.1	+	36	4650	c.4425C>T	c.(4423-4425)ctC>ctT	p.L1475L	NLRC5_ENST00000308149.7_Silent_p.L1446L|NLRC5_ENST00000262510.6_Silent_p.L1475L|NLRC5_ENST00000539144.1_Silent_p.L1446L			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1475					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGGTTAACCTCTGTGAGGACG	0.507000													5	79					0	0	0.000602	0	0
OR2L3	391192	broad.mit.edu	37	1	248224880	248224880	+	Silent	SNP	C	C	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr1:248224880C>A	ENST00000359959.3	+	1	897	c.897C>A	c.(895-897)gcC>gcA	p.A299A	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGATGGGGGCCCTGACACGAG	0.493000													10	58					0.00621372	0.0070036	0.006214	1	0
PTCD1	26024	broad.mit.edu	37	7	99027337	99027337	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr7:99027337C>G	ENST00000292478.4	-	4	937	c.687G>C	c.(685-687)caG>caC	p.Q229H	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.Q278H|PTCD1_ENST00000485746.1_5'UTR|PTCD1_ENST00000555673.1_Missense_Mutation_p.Q278H	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	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)		STAD - Stomach adenocarcinoma(171;0.215)			TCAGGGCGCTCTGTAGAGCTG	0.597000													4	63					0	0	0.009096	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6085734	6085734	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr7:6085734T>A	ENST00000199389.6	-	6	744	c.598A>T	c.(598-600)Att>Ttt	p.I200F	EIF2AK1_ENST00000495565.1_5'UTR|EIF2AK1_ENST00000536084.1_Missense_Mutation_p.I76F	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	200	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GCACCCTTAATCAGGATTTTT	0.254000													5	21					0	0	0.000602	0	0
AGMO	392636	broad.mit.edu	37	7	15240926	15240926	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr7:15240926G>C	ENST00000342526.3	-	13	1491	c.1322C>G	c.(1321-1323)tCt>tGt	p.S441C		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	441					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			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CCAAGGGTGAGAGGTGAGTTG	0.308000													8	47					0	0	0.004482	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19704465	19704465	+	Silent	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr21:19704465C>G	ENST00000284885.3	-	14	1623	c.1590G>C	c.(1588-1590)ctG>ctC	p.L530L		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	530	CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTGGCTCCCACAGCTCAAAAG	0.403000													4	56					0	0	0.009096	0	0
ACACB	32	broad.mit.edu	37	12	109684111	109684111	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr12:109684111A>G	ENST00000338432.7	+	39	5548	c.5429A>G	c.(5428-5430)tAc>tGc	p.Y1810C	ACACB_ENST00000377848.3_Missense_Mutation_p.Y1810C|ACACB_ENST00000377854.5_Missense_Mutation_p.Y1740C|ACACB_ENST00000543201.1_Missense_Mutation_p.Y476C			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1810	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GACCTTCTGTACCTGCGGGCA	0.562000													4	107					0	0	0.000602	0	0
PTGFR	5737	broad.mit.edu	37	1	79002110	79002110	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr1:79002110G>A	ENST00000370756.3	+	4	1126	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	PTGFR_ENST00000370758.1_Missense_Mutation_p.G273E|PTGFR_ENST00000370757.3_Missense_Mutation_p.G273E	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	0					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GCCAACATTGGAATAAATGGA	0.343000													4	56					0	0	0.009096	0	0
ZNF786	136051	broad.mit.edu	37	7	148777738	148777738	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr7:148777738C>G	ENST00000491431.1	-	2	154	c.90G>C	c.(88-90)caG>caC	p.Q30H	ZNF786_ENST00000451334.3_5'UTR|ZNF786_ENST00000316286.9_Intron	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AAAGTTCCTTCTGCCATGCCT	0.428000													3	55					0	0	0.004672	0	0
SEC61A2	55176	broad.mit.edu	37	10	12197794	12197794	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr10:12197794G>A	ENST00000379033.3	+	6	561	c.414G>A	c.(412-414)ttG>ttA	p.L138L	SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379020.4_Silent_p.L160L|SEC61A2_ENST00000298428.9_Silent_p.L160L|SEC61A2_ENST00000304267.8_Silent_p.L160L	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	160						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				TTGCTGGTTTGATTGTGCTGC	0.473000													34	303					0	0	0.005524	0	0
PRPF8	10594	broad.mit.edu	37	17	1562841	1562841	+	Splice_Site	SNP	C	C	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr17:1562841C>A	ENST00000572621.1	-	31	5213	c.4946_splice	c.e31-1	p.D1650_splice	PRPF8_ENST00000304992.6_Splice_Site_p.D1650_splice			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1650						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCCATCACATCCCTGAGGATG	0.527000													9	78					0.000274275	0.000314471	0.004482	1	0
NOTCH1	4851	broad.mit.edu	37	9	139399790	139399790	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr9:139399790C>G	ENST00000277541.6	-	25	4633	c.4558G>C	c.(4558-4560)Gac>Cac	p.D1520H		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1520					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGCTGGCAGTCAAAGCCGTCG	0.627000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			2	6					0	0	0.004672	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049988	69049988	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr2:69049988G>C	ENST00000295381.3	+	10	2133	c.1714G>C	c.(1714-1716)Gag>Cag	p.E572Q	ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E573Q|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.E266Q|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E566Q|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E533Q|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E565Q	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	572					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GCAAATGTATGAGGAACAGAT	0.448000													3	54					0	0	0.004672	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													3	41					0	0	0.004672	0	0
CECR5	27440	broad.mit.edu	37	22	17629399	17629399	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr22:17629399C>T	ENST00000336737.4	-	3	407	c.382G>A	c.(382-384)Gag>Aag	p.E128K	CECR5_ENST00000480451.1_5'UTR|CECR5_ENST00000155674.5_Missense_Mutation_p.E98K|CECR5_ENST00000399852.3_Intron	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	128							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TCATGGTACTCGGAGAAGAGC	0.557000													14	260					0	0	0.002450	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	50					0	0	0.004482	0	0
TRPM3	80036	broad.mit.edu	37	9	73164531	73164531	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr9:73164531C>G	ENST00000377110.2	-	24	3841	c.3598G>C	c.(3598-3600)Gaa>Caa	p.E1200Q	TRPM3_ENST00000408909.2_Missense_Mutation_p.E1059Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1049Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1062Q|TRPM3_ENST00000377111.2_Missense_Mutation_p.E1200Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.E1059Q|TRPM3_ENST00000360823.2_Missense_Mutation_p.E1062Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1072Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1059Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1204Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.E1072Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1227Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1225						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AAGTATTCTTCTATGCATTGC	0.413000													3	71					0	0	0.004672	0	0
DIDO1	11083	broad.mit.edu	37	20	61542619	61542619	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr20:61542619C>T	ENST00000266070.4	-	3	671	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	DIDO1_ENST00000266071.5_Missense_Mutation_p.E116K|DIDO1_ENST00000395343.1_Missense_Mutation_p.E116K|DIDO1_ENST00000395340.1_Missense_Mutation_p.E116K|DIDO1_ENST00000370368.1_Missense_Mutation_p.E116K|DIDO1_ENST00000370371.4_Missense_Mutation_p.E116K|DIDO1_ENST00000370366.1_Missense_Mutation_p.E116K|DIDO1_ENST00000354665.4_Missense_Mutation_p.E116K|DIDO1_ENST00000395335.2_Missense_Mutation_p.E116K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	116					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAAGCGCTTTCCACGCTGCCC	0.637000													6	41					0	0	0.001984	0	0
CKAP2L	150468	broad.mit.edu	37	2	113514726	113514726	+	Translation_Start_Site	SNP	G	G	C	rs77207496	byFrequency	TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr2:113514726G>C	ENST00000541405.1	-	0	250				CKAP2L_ENST00000302450.6_Missense_Mutation_p.I74M|CKAP2L_ENST00000481732.1_5'UTR			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like							centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GTTTAATGCTGATGGACCTTT	0.413000													7	183					0	0	0.003080	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475597	42475597	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr17:42475597G>A	ENST00000434000.1	-	9	3896	c.3614C>T	c.(3613-3615)gCa>gTa	p.A1205V	GPATCH8_ENST00000591680.1_Missense_Mutation_p.A1283V			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1283						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ACTGGGAGGTGCATAACTGGG	0.592000													7	177					0	0	0.003080	0	0
FLT3	2322	broad.mit.edu	37	13	28609671	28609671	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr13:28609671G>C	ENST00000380982.4	-	12	1639	c.1558C>G	c.(1558-1560)Ctt>Gtt	p.L520V	FLT3_ENST00000241453.7_Missense_Mutation_p.L520V|FLT3_ENST00000537084.1_Missense_Mutation_p.L520V			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	520					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.L520I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GATGTGCCAAGGGAATTGTAT	0.453000			"""Mis, O"""		"""AML, ALL"""								5	84					0	0	0.001984	0	0
FSCB	84075	broad.mit.edu	37	14	44975153	44975153	+	Silent	SNP	A	A	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr14:44975153A>T	ENST00000340446.4	-	1	1329	c.1038T>A	c.(1036-1038)ctT>ctA	p.L346L		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	346	Pro-rich.					cilium				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)		TTTCAGCCAGAAGCTCTACAG	0.507000													13	111					0	0	0.002450	0	0
DDX59	83479	broad.mit.edu	37	1	200619738	200619738	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr1:200619738C>G	ENST00000447706.2	-	5	1280	c.1129G>C	c.(1129-1131)Gat>Cat	p.D377H	DDX59_ENST00000331314.6_Missense_Mutation_p.D377H|DDX59_ENST00000367348.3_Missense_Mutation_p.D377H			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	377	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						GTCTGACAATCATTAGGAATG	0.353000													3	39					0	0	0.009096	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110451310	110451310	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr11:110451310C>G	ENST00000260283.4	-	16	2644	c.2360G>C	c.(2359-2361)gGa>gCa	p.G787A	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.G761A|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.G761A|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.G764A|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.G751A|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.G330A|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.G751A	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	787					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CACGTGATTTCCTTCACTACC	0.413000													5	97					0	0	0.000602	0	0
TMEM130	222865	broad.mit.edu	37	7	98446224	98446224	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr7:98446224C>T	ENST00000450876.1	-	7	2164	c.849G>A	c.(847-849)caG>caA	p.Q283Q	TMEM130_ENST00000345589.4_Silent_p.Q265Q|TMEM130_ENST00000416379.2_Silent_p.Q367Q|TMEM130_ENST00000546258.1_Silent_p.Q348Q|TMEM130_ENST00000339375.4_Silent_p.Q367Q			Q8N3G9	TM130_HUMAN	transmembrane protein 130	367						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGTCCTTTTGCTGAGTGGCAT	0.557000													13	67					0	0	0.001855	0	0
MIER3	166968	broad.mit.edu	37	5	56234739	56234739	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr5:56234739C>G	ENST00000381226.3	-	4	316	c.301G>C	c.(301-303)Gat>Cat	p.D101H	MIER3_ENST00000381199.3_Missense_Mutation_p.D96H|MIER3_ENST00000409421.1_Missense_Mutation_p.D33H|MIER3_ENST00000381213.3_Missense_Mutation_p.D96H			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		GGTAGTTCATCTGCCAGTTCA	0.393000													6	63					0	0	0.001168	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870209	151870209	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chrX:151870209C>A	ENST00000329342.5	+	3	1124	c.899C>A	c.(898-900)tCc>tAc	p.S300Y		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	300	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGCATTTCCTACCCACTC	0.562000													7	227					5.18039e-06	6.09727e-06	0.003080	1	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													4	72					0	0	0.009096	0	0
LNX2	222484	broad.mit.edu	37	13	28136648	28136648	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr13:28136648C>A	ENST00000316334.3	-	5	1255	c.1126G>T	c.(1126-1128)Gcc>Tcc	p.A376S		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	376	PDZ 2.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CCGTCCTGGGCAGCCAACCCC	0.532000													20	150					1.1804e-14	1.41435e-14	0.003954	1	0
AHNAK2	113146	broad.mit.edu	37	14	105411954	105411954	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr14:105411954G>A	ENST00000333244.5	-	7	9953	c.9834C>T	c.(9832-9834)gtC>gtT	p.V3278V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3278						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGGGGCCTCGACGTCCACCT	0.607000													30	234					0	0	0.008361	0	0
EFEMP1	2202	broad.mit.edu	37	2	56097911	56097911	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr2:56097911T>G	ENST00000394555.2	-	10	1699	c.1264A>C	c.(1264-1266)Acc>Ccc	p.T422P	EFEMP1_ENST00000394554.1_Missense_Mutation_p.T422P|EFEMP1_ENST00000355426.3_Missense_Mutation_p.T422P|EFEMP1_ENST00000424836.2_Missense_Mutation_p.T284P	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	422	Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTATTGATGGTGTTGGCATAA	0.418000													3	58					0	0	0.009096	0	0
FAT1	2195	broad.mit.edu	37	4	187629100	187629100	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr4:187629100G>A	ENST00000441802.2	-	2	2091	c.1882C>T	c.(1882-1884)Cga>Tga	p.R628*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	628	Cadherin 5.				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.R628*(2)		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						ATTAGCGATCGCTTTAATGAC	0.403000										HNSCC(5;0.00058)			6	63					0	0	0.001984	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38148029	38148029	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr8:38148029C>T	ENST00000317025.8	-	17	3599	c.3082G>A	c.(3082-3084)Gaa>Aaa	p.E1028K	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.E1028K|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.E979K	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1028					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GTCTGCCCTTCAGCAAAGCTT	0.443000			T	NUP98	AML								8	171					0	0	0.003080	0	0
SIRT5	23408	broad.mit.edu	37	6	13601120	13601120	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr6:13601120G>T	ENST00000606117.1	+	9	1092	c.796G>T	c.(796-798)Gcc>Tcc	p.A266S	SIRT5_ENST00000359782.3_Missense_Mutation_p.A248S|SIRT5_ENST00000379262.4_Missense_Mutation_p.A266S|SIRT5_ENST00000397350.2_Missense_Mutation_p.A158S	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	sirtuin 5	266	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	CCAGGTGGCTGCCAGGGGCGT	0.577000													7	39					0.000274275	0.000314471	0.004482	1	0
COCH	1690	broad.mit.edu	37	14	31358870	31358870	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr14:31358870T>G	ENST00000460581.2	+	10	1736	c.1190T>G	c.(1189-1191)cTg>cGg	p.L397R	COCH_ENST00000475087.1_Intron|COCH_ENST00000396618.3_Missense_Mutation_p.L509R|COCH_ENST00000216361.4_Missense_Mutation_p.L509R|COCH_ENST00000382493.4_Missense_Mutation_p.L360R|RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA			O43405	COCH_HUMAN	cochlin	509	VWFA 2.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CTGGATGACCTGAAAGATATG	0.388000													7	39					0	0	0.006214	0	0
MYO1C	4641	broad.mit.edu	37	17	1387008	1387008	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr17:1387008G>A	ENST00000359786.5	-	3	567	c.243C>T	c.(241-243)ggC>ggT	p.G81G	MYO1C_ENST00000361007.2_Silent_p.G46G|MYO1C_ENST00000438665.2_Silent_p.G62G|MYO1C_ENST00000545534.2_Silent_p.G57G|MYO1C_ENST00000575158.1_Silent_p.G46G	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	81	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCAGGACGGGGCCAATGTAGG	0.592000													3	16					0	0	0.004672	0	0
ATP10B	23120	broad.mit.edu	37	5	160033923	160033923	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr5:160033923C>T	ENST00000327245.5	-	19	3855	c.3009G>A	c.(3007-3009)ttG>ttA	p.L1003L		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1003					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATGGCATTCAATGTCTTCC	0.512000													5	111					0	0	0.000602	0	0
UBQLN4	56893	broad.mit.edu	37	1	156020169	156020169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr1:156020169C>T	ENST00000368309.3	-	4	746	c.654G>A	c.(652-654)atG>atA	p.M218I	UBQLN4_ENST00000368307.1_Intron|UBQLN4_ENST00000472638.1_Intron	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	218						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	p.M218I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					TGGCCATAATCATGTGACGCA	0.522000													6	137					0	0	0.001984	0	0
SLC35G5	83650	broad.mit.edu	37	8	11188846	11188846	+	Silent	SNP	C	C	T	rs148317481		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr8:11188846C>T	ENST00000382435.4	+	1	450	c.231C>T	c.(229-231)tgC>tgT	p.C77C		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	77	DUF6 1.					integral to membrane											TCTGTCGATGCCTCTTCCACC	0.627000													29	246					0	0	0.007291	0	0
RBBP6	5930	broad.mit.edu	37	16	24552017	24552017	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr16:24552017A>G	ENST00000319715.4	+	1	502	c.70A>G	c.(70-72)Atc>Gtc	p.I24V	RBBP6_ENST00000381039.3_Missense_Mutation_p.I24V|RBBP6_ENST00000452655.2_Missense_Mutation_p.I24V|RBBP6_ENST00000348022.2_Missense_Mutation_p.I24V	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	24	DWNN.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TGGGCTCCACATCTCCCTCTG	0.483000													14	59					0	0	0.004007	0	0
KIAA0100	9703	broad.mit.edu	37	17	26948139	26948139	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr17:26948139G>A	ENST00000528896.2	-	28	5183	c.5109C>T	c.(5107-5109)atC>atT	p.I1703I	KIAA0100_ENST00000544884.1_Silent_p.I1560I|KIAA0100_ENST00000389003.3_Silent_p.I1560I	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1703						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AACGCGAAATGATCCGCTGGA	0.448000													4	64					0	0	0.009096	0	0
LDHC	3948	broad.mit.edu	37	11	18467778	18467778	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr11:18467778G>A	ENST00000541669.1	+	7	843	c.732G>A	c.(730-732)ctG>ctA	p.L244L	LDHC_ENST00000280704.4_Silent_p.L244L|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000544105.1_Intron|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000536880.1_Silent_p.L230L|LDHC_ENST00000535809.1_Intron			P07864	LDHC_HUMAN	lactate dehydrogenase C	244					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	TTATCAAGCTGAAGGGGTATA	0.373000													6	78					0	0	0.003080	0	0
TGFBR2	7048	broad.mit.edu	37	3	30715720	30715720	+	Missense_Mutation	SNP	C	C	T	rs104893811		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr3:30715720C>T	ENST00000295754.5	+	5	1760	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R485C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	460	Protein kinase.		R -> C (in AAT3).|R -> H (in AAT3).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AATGACATCTCGCTGTAATGC	0.458000													7	63					0	0	0.004482	0	0
GALNT14	79623	broad.mit.edu	37	2	31215732	31215732	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr2:31215732G>A	ENST00000349752.5	-	2	910	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	GALNT14_ENST00000406653.1_Missense_Mutation_p.R71W|GALNT14_ENST00000324589.5_Intron|GALNT14_ENST00000420311.2_Missense_Mutation_p.R56W|GALNT14_ENST00000356174.3_Missense_Mutation_p.R91W	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	91						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGGATGGCCCGATTGCTGGAG	0.562000													6	89					0	0	0.001168	0	0
DMRTB1	63948	broad.mit.edu	37	1	53930414	53930414	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr1:53930414G>A	ENST00000371445.3	+	3	910	c.855G>A	c.(853-855)ccG>ccA	p.P285P		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	285	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						AGTTCCTCCCGCCAGGCTACC	0.647000													13	73					0	0	0.013537	0	0
FAR2	55711	broad.mit.edu	37	12	29486610	29486610	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr12:29486610C>T	ENST00000182377.4	+	12	1699	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	FAR2_ENST00000536681.2_Silent_p.I477I|FAR2_ENST00000547116.1_Silent_p.I380I	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	477					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TCTTCCTTATCGCCTGGCGCC	0.428000													12	185					0	0	0.013537	0	0
AFAP1	60312	broad.mit.edu	37	4	7873772	7873772	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr4:7873772G>C	ENST00000420658.1	-	2	306	c.34C>G	c.(34-36)Ctt>Gtt	p.L12V	AFAP1_ENST00000382543.3_Missense_Mutation_p.L12V|AFAP1_ENST00000360265.4_Missense_Mutation_p.L12V|AFAP1_ENST00000358461.2_Missense_Mutation_p.L12V	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	12						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						AGGAGTTCAAGAAAGAGACGA	0.383000													3	61					0	0	0.004672	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99654858	99654858	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr7:99654858G>A	ENST00000292450.4	+	2	393	c.229G>A	c.(229-231)Gag>Aag	p.E77K	ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E77K|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.E77K	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	77	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GCTGAGGCCCGAGATCCACAC	0.637000													5	40					0	0	0.000602	0	0
NUP98	4928	broad.mit.edu	37	11	3727721	3727721	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr11:3727721G>C	ENST00000324932.7	-	21	3299	c.2879C>G	c.(2878-2880)tCa>tGa	p.S960*	NUP98_ENST00000359171.4_Nonsense_Mutation_p.S960*|NUP98_ENST00000355260.3_Nonsense_Mutation_p.S960*	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	977					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AATATGTGTTGAGGCAGACAC	0.423000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								4	127					0	0	0.009096	0	0
ZBTB49	166793	broad.mit.edu	37	4	4314793	4314793	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr4:4314793G>A	ENST00000337872.4	+	5	1449	c.1328G>A	c.(1327-1329)cGa>cAa	p.R443Q	ZBTB49_ENST00000355834.3_Intron|ZBTB49_ENST00000538529.1_Intron	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R443Q(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						ACTCACTTACGACGGCATTCT	0.408000													7	50					0	0	0.001984	0	0
ZNF48	197407	broad.mit.edu	37	16	30410135	30410135	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr16:30410135G>T	ENST00000320159.2	+	2	1940	c.1564G>T	c.(1564-1566)Ggc>Tgc	p.G522C		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	522	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						TAACCCACCTGGCCCAGTACC	0.677000													5	110					0.00116845	0.00132823	0.001168	1	0
THBS2	7058	broad.mit.edu	37	6	169648845	169648845	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr6:169648845C>G	ENST00000366787.3	-	4	525	c.276G>C	c.(274-276)caG>caC	p.Q92H		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	92	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ACTTGCCGTCCTGCTTGAGCT	0.622000													8	65					0	0	0.003080	0	0
OGT	8473	broad.mit.edu	37	X	70787880	70787880	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chrX:70787880C>T	ENST00000373719.3	+	21	3097	c.2880C>T	c.(2878-2880)ctC>ctT	p.L960L	OGT_ENST00000373701.3_Silent_p.L950L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	960					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CATCCCAGCTCACTTGCTTAG	0.383000													16	110					0	0	0.004007	0	0
ARFGAP1	55738	broad.mit.edu	37	20	61914181	61914181	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr20:61914181T>G	ENST00000370275.4	+	9	787	c.695T>G	c.(694-696)tTt>tGt	p.F232C	ARFGAP1_ENST00000370283.4_Missense_Mutation_p.F232C|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.F158C|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.F179C|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.F119C|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.F232C			Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	232					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GCTACAAAGTTTGGATCCCAA	0.507000													15	42					0	0	0.003163	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313527	1313527	+	Silent	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr6:1313527C>G	ENST00000296839.2	+	1	853	c.588C>G	c.(586-588)ctC>ctG	p.L196L		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	196					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		ACTGGATGCTCAACCCCAACA	0.711000													3	62					0	0	0.009096	0	0
CUZD1	50624	broad.mit.edu	37	10	124598737	124598737	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr10:124598737C>T	ENST00000368904.1	-	5	1193	c.244G>A	c.(244-246)Gat>Aat	p.D82N	CUZD1_ENST00000545804.1_Missense_Mutation_p.D82N|CUZD1_ENST00000392790.1_Missense_Mutation_p.D82N			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	82	CUB 1.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CAGCTTCCATCTGGATCAAGC	0.453000													7	107					0	0	0.003080	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85163919	85163919	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr15:85163919G>C	ENST00000448803.2	+	3	785	c.493G>C	c.(493-495)Gaa>Caa	p.E165Q	ZSCAN2_ENST00000485222.2_Missense_Mutation_p.E165Q|ZSCAN2_ENST00000541040.1_Missense_Mutation_p.E165Q|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E164Q|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E165Q|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.E15Q|ZSCAN2_ENST00000538076.1_Missense_Mutation_p.E165Q	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	165					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GGAAATGCCTGAAGGTGAAAG	0.473000													6	119					0	0	0.001168	0	0
CIT	11113	broad.mit.edu	37	12	120166409	120166409	+	Silent	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr12:120166409G>C	ENST00000392521.2	-	28	3544	c.3489C>G	c.(3487-3489)ctC>ctG	p.L1163L	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.L1121L	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1121	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCAGGTCATTGAGCTAGACAT	0.438000													7	143					0	0	0.001984	0	0
LRP1B	53353	broad.mit.edu	37	2	141250263	141250263	+	Splice_Site	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr2:141250263C>G	ENST00000389484.3	-	57	10006		c.e57-1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGTTCTTCATCTAAACACCAA	0.338000										TSP Lung(27;0.18)			6	67					0	0	0.001168	0	0
ETV7	51513	broad.mit.edu	37	6	36334462	36334462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr6:36334462C>T	ENST00000373738.1	-	7	1666	c.821G>A	c.(820-822)aGa>aAa	p.R274K	ETV7_ENST00000340181.4_Missense_Mutation_p.R329K|ETV7_ENST00000538992.1_Missense_Mutation_p.R178K|ETV7_ENST00000373737.4_Missense_Mutation_p.R252K|ETV7_ENST00000339796.5_Intron	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7	329					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						GAACTCTATTCTGTCCTGCTC	0.577000													6	149					0	0	0.001168	0	0
SERAC1	84947	broad.mit.edu	37	6	158565392	158565392	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr6:158565392C>T	ENST00000367102.2	-	7	689	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	SERAC1_ENST00000367101.1_Missense_Mutation_p.R183Q|SERAC1_ENST00000367104.3_Missense_Mutation_p.R183Q			Q96JX3	SRAC1_HUMAN	serine active site containing 1	183					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CTCTTCGCTTCGTGCCAAACC	0.338000													4	47					0	0	0.009096	0	0
UTRN	7402	broad.mit.edu	37	6	145103095	145103095	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr6:145103095C>G	ENST00000367545.3	+	60	8670	c.8670C>G	c.(8668-8670)ttC>ttG	p.F2890L	UTRN_ENST00000367526.4_Missense_Mutation_p.F445L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2890	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATGAAATTTTCAAACAGCACA	0.368000													4	37					0	0	0.000602	0	0
PEG3	5178	broad.mit.edu	37	19	57327549	57327549	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr19:57327549G>A	ENST00000326441.9	-	10	2624	c.2261C>T	c.(2260-2262)tCt>tTt	p.S754F	PEG3_ENST00000593695.1_Missense_Mutation_p.S628F|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S754F|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.S630F|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	754					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)		ATAGGGGTTAGAGCTAATGGT	0.413000													10	164					0	0	0.010729	0	0
SOAT2	8435	broad.mit.edu	37	12	53509201	53509201	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr12:53509201C>T	ENST00000301466.3	+	6	531	c.471C>T	c.(469-471)atC>atT	p.I157I		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	157					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						ACCTACTGATCTTCAGCTTCG	0.582000													3	42					0	0	0.000602	0	0
RBBP7	5931	broad.mit.edu	37	X	16863980	16863980	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chrX:16863980C>G	ENST00000380087.2	-	11	1540	c.1180G>C	c.(1180-1182)Gag>Cag	p.E394Q	RBBP7_ENST00000380084.4_Missense_Mutation_p.E438Q|RBBP7_ENST00000404022.1_Missense_Mutation_p.E385Q			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	394					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					ATGTTATCCTCAGACACTGAG	0.353000													4	45					0	0	0.009096	0	0
TEX101	83639	broad.mit.edu	37	19	43920038	43920038	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr19:43920038G>C	ENST00000602198.1	+	4	463	c.21G>C	c.(19-21)caG>caC	p.Q7H	TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Missense_Mutation_p.Q7H|TEX101_ENST00000598265.1_5'UTR	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	0						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				CACAGATCCAGACCAGCTCCT	0.527000													10	241					0	0	0.006214	0	0
NKAP	79576	broad.mit.edu	37	X	119066122	119066122	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chrX:119066122G>A	ENST00000371410.3	-	6	961	c.795C>T	c.(793-795)agC>agT	p.S265S	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	265	Necessary for interaction with CIR1.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						ATTCTTTAGAGCTTGAATCAC	0.343000													5	204					0	0	0.003080	0	0
SREBF1	6720	broad.mit.edu	37	17	17718569	17718569	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr17:17718569G>A	ENST00000355815.4	-	14	2717	c.2548C>T	c.(2548-2550)Ccc>Tcc	p.P850S	SREBF1_ENST00000261646.5_Missense_Mutation_p.P820S|SREBF1_ENST00000395757.1_Missense_Mutation_p.P566S|SREBF1_ENST00000338854.5_Missense_Mutation_p.P820S	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	820					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CTGGGGTTGGGCTGGGTCACA	0.617000													8	104					0	0	0.008291	0	0
RNF139	11236	broad.mit.edu	37	8	125498991	125498991	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr8:125498991C>T	ENST00000303545.3	+	2	1473	c.1101C>T	c.(1099-1101)atC>atT	p.I367I		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	367					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TGCATTTTATCCATGGAATGA	0.423000													19	202					0	0	0.007413	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6534542	6534542	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr1:6534542G>A	ENST00000377748.1	-	7	1136	c.639C>T	c.(637-639)taC>taT	p.Y213Y	PLEKHG5_ENST00000544978.1_Silent_p.Y136Y|PLEKHG5_ENST00000377737.2_Silent_p.Y136Y|PLEKHG5_ENST00000400913.1_Silent_p.Y136Y|PLEKHG5_ENST00000537245.1_Silent_p.Y215Y|PLEKHG5_ENST00000400915.3_Silent_p.Y192Y|PLEKHG5_ENST00000340850.5_Silent_p.Y136Y|PLEKHG5_ENST00000377732.1_Silent_p.Y173Y|PLEKHG5_ENST00000377725.1_Silent_p.Y136Y|PLEKHG5_ENST00000377728.3_Silent_p.Y136Y|PLEKHG5_ENST00000377740.3_Silent_p.Y213Y|PLEKHG5_ENST00000535355.1_Silent_p.Y205Y	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	192					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCGAACCTGTAGGCCTCGA	0.607000													6	29					0	0	0.001984	0	0
IQGAP1	8826	broad.mit.edu	37	15	91020962	91020962	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr15:91020962G>C	ENST00000268182.5	+	26	3294	c.3170G>C	c.(3169-3171)aGt>aCt	p.S1057T	IQGAP1_ENST00000560738.1_Missense_Mutation_p.S485T	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1057	C1.|Ras-GAP.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATGGTTGTAAGTTTCAACCGT	0.408000													5	55					0	0	0.001168	0	0
NDUFB10	4716	broad.mit.edu	37	16	2011519	2011519	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr16:2011519C>G	ENST00000543683.2	+	3	373	c.291C>G	c.(289-291)atC>atG	p.I97M	NDUFB10_ENST00000268668.6_Missense_Mutation_p.I97M|NDUFB10_ENST00000569148.1_Missense_Mutation_p.I86M			O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	97					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			lung(1)|urinary_tract(1)	2					NADH(DB00157)	AAGAAATTATCAACATTATGC	0.473000													6	192					0	0	0.001168	0	0
CACNA2D1	781	broad.mit.edu	37	7	81714097	81714097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr7:81714097G>A	ENST00000356860.3	-	7	984	c.646C>T	c.(646-648)Cga>Tga	p.R216*	CACNA2D1_ENST00000423588.1_Nonsense_Mutation_p.R216*|CACNA2D1_ENST00000356253.5_Nonsense_Mutation_p.R216*	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	216						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)	GGATAATATCGAGCTAGGCCA	0.423000													13	45					0	0	0.013537	0	0
DNAH17	8632	broad.mit.edu	37	17	76506502	76506502	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr17:76506502G>A	ENST00000389840.5	-	27	4312	c.4188C>T	c.(4186-4188)atC>atT	p.I1396I	DNAH17_ENST00000585328.1_Silent_p.I1397I					dynein, axonemal, heavy chain 17											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)			CCTTGTCCACGATGTTGCGGA	0.532000													7	199					0	0	0.001984	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr2:178098810C>T	ENST00000397062.3	-	2	789	c.235G>A	c.(235-237)Gag>Aag	p.E79K	NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63K|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63K|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63K	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			5	58					0	0	0.000602	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140810887	140810887	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr5:140810887C>T	ENST00000252085.3	+	1	703	c.561C>T	c.(559-561)gaC>gaT	p.D187D	PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGAGCCGACGGTAGTAAGT	0.607000													9	132					0	0	0.006214	0	0
ACBD5	91452	broad.mit.edu	37	10	27512312	27512312	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr10:27512312T>A	ENST00000396271.3	-	5	571	c.445A>T	c.(445-447)Att>Ttt	p.I149F	ACBD5_ENST00000375897.3_Missense_Mutation_p.I40F|ACBD5_ENST00000375888.1_Missense_Mutation_p.I147F|ACBD5_ENST00000375905.4_Missense_Mutation_p.I114F|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375901.1_Missense_Mutation_p.I40F	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	147					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TCCTCGACAATTTCATAAAAT	0.318000													3	51					0	0	0.004672	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618162	77618162	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr8:77618162C>T	ENST00000521891.2	+	2	2287	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	ZFHX4_ENST00000050961.6_Silent_p.I613I|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.I613I|ZFHX4_ENST00000455469.2_Silent_p.I613I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	613						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAGTGGCATCGAGTGTCCAA	0.557000										HNSCC(33;0.089)			6	80					0	0	0.001168	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412284	139412284	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr9:139412284T>G	ENST00000277541.6	-	8	1436	c.1361A>C	c.(1360-1362)aAc>aCc	p.N454T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	454	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.N454delN(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GACGCACTCGTTGACGTCGAT	0.657000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			11	84					0	0	0.008291	0	0
VPS13B	157680	broad.mit.edu	37	8	100832288	100832288	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr8:100832288G>C	ENST00000358544.2	+	49	9118	c.9007G>C	c.(9007-9009)Gaa>Caa	p.E3003Q	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.E2978Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3003					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGGCTATTTGAAGGAGAGAA	0.378000													4	105					0	0	0.009096	0	0
BAI1	575	broad.mit.edu	37	8	143569790	143569790	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr8:143569790C>T	ENST00000517894.1	+	14	3268	c.2374C>T	c.(2374-2376)Cgg>Tgg	p.R792W	BAI1_ENST00000323289.5_Missense_Mutation_p.R792W			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	792					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAAGGGCTGGCGGGCCACGGG	0.632000													5	119					0	0	0.001168	0	0
ZNF831	128611	broad.mit.edu	37	20	57766493	57766493	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr20:57766493A>G	ENST00000371030.2	+	1	419	c.419A>G	c.(418-420)aAt>aGt	p.N140S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	140						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAGGTGCGGAATGCGGGCAAG	0.672000													3	83					0	0	0.004672	0	0
NLRP6	171389	broad.mit.edu	37	11	281225	281225	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr11:281225C>G	ENST00000534750.1	+	4	1696	c.1491C>G	c.(1489-1491)ttC>ttG	p.F497L	NLRP6_ENST00000312165.5_Missense_Mutation_p.F497L	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	497	NACHT.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCTACCAGTTCATCGACCAGA	0.627000													5	122					0	0	0.000602	0	0
FAM47B	170062	broad.mit.edu	37	X	34961653	34961653	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chrX:34961653C>T	ENST00000329357.5	+	1	741	c.705C>T	c.(703-705)ctC>ctT	p.L235L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	235	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGTCCAGTCTCCACCCGGAAC	0.637000													6	105					0	0	0.001984	0	0
TACC2	10579	broad.mit.edu	37	10	123970684	123970684	+	Silent	SNP	G	G	A	rs35532970		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr10:123970684G>A	ENST00000369005.1	+	9	7084	c.6744G>A	c.(6742-6744)tcG>tcA	p.S2248S	TACC2_ENST00000260733.3_Silent_p.S326S|TACC2_ENST00000334433.3_Silent_p.S2248S|TACC2_ENST00000453444.2_Silent_p.S2252S|TACC2_ENST00000360561.3_Silent_p.S326S|TACC2_ENST00000369004.3_Silent_p.S326S|TACC2_ENST00000515603.1_Silent_p.S2203S|TACC2_ENST00000368999.1_Silent_p.S326S|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000513429.1_Silent_p.S394S|TACC2_ENST00000515273.1_Silent_p.S2252S|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000358010.1_Silent_p.S394S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2248						microtubule organizing center|nucleus	nuclear hormone receptor binding			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)				TAACCCCATCGGATAGCGGGG	0.602000													5	55					0	0	0.000602	0	0
ZC3H13	23091	broad.mit.edu	37	13	46559752	46559752	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr13:46559752C>T	ENST00000242848.4	-	10	1748	c.1400G>A	c.(1399-1401)cGa>cAa	p.R467Q	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R467Q			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	467	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TAGTTCCCTTCGGTCCCTAGT	0.507000													12	181					0	0	0.013537	0	0
GLA	2717	broad.mit.edu	37	X	100662806	100662806	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chrX:100662806G>A	ENST00000218516.3	-	1	107	c.86C>T	c.(85-87)gCt>gTt	p.A29V	RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	29					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	CAGTGCTCTAGCCCCAGGGAT	0.602000													5	137					0	0	0.000602	0	0
GGCX	2677	broad.mit.edu	37	2	85781368	85781368	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr2:85781368C>G	ENST00000233838.3	-	7	867	c.787G>C	c.(787-789)Gac>Cac	p.D263H	GGCX_ENST00000430215.3_Missense_Mutation_p.D206H|GGCX_ENST00000473665.1_5'UTR	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	263					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	GCTGAGAGGTCAAGCAGCAGC	0.507000													6	183					0	0	0.001984	0	0
FAT1	2195	broad.mit.edu	37	4	187630411	187630411	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr4:187630411G>A	ENST00000441802.2	-	2	780	c.571C>T	c.(571-573)Cga>Tga	p.R191*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	191	Cadherin 2.				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			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						ATATCTGTTCGATCTTTAAAA	0.433000										HNSCC(5;0.00058)			13	115					0	0	0.013537	0	0
PCGF1	84759	broad.mit.edu	37	2	74733102	74733102	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr2:74733102C>T	ENST00000233630.6	-	5	1418	c.507G>A	c.(505-507)ttG>ttA	p.L169L	PCGF1_ENST00000480844.2_5'UTR	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	169					histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						GGCACAGGTTCAACTGCTCAT	0.577000													13	197					0	0	0.002450	0	0
TTC30A	92104	broad.mit.edu	37	2	178482118	178482118	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr2:178482118C>T	ENST00000355689.4	-	1	1576	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	438					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGATAATTTTCAAGATTCCAG	0.393000													4	100					0	0	0.001984	0	0
OR4N5	390437	broad.mit.edu	37	14	20612585	20612585	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr14:20612585G>C	ENST00000333629.1	+	1	691	c.691G>C	c.(691-693)Gaa>Caa	p.E231Q		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GCACTCCTCTGAAGGAAAGAG	0.498000													3	123					0	0	0.004672	0	0
MYOCD	93649	broad.mit.edu	37	17	12666526	12666526	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr17:12666526C>G	ENST00000425538.1	+	14	2726	c.2526C>G	c.(2524-2526)atC>atG	p.I842M	MYOCD_ENST00000343344.4_Missense_Mutation_p.I794M|RP11-1090M7.1_ENST00000584772.1_RNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	794					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCAGCCAGATCCCCTTTGATC	0.483000													6	110					0	0	0.001984	0	0
C1orf168	199920	broad.mit.edu	37	1	57257877	57257877	+	Silent	SNP	G	G	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr1:57257877G>T	ENST00000343433.6	-	2	689	c.609C>A	c.(607-609)ccC>ccA	p.P203P	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	203										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GTAATATTTTGGGGGCCACCA	0.488000													9	123					2.17888e-05	2.54202e-05	0.006214	1	0
SOX3	6658	broad.mit.edu	37	X	139586097	139586097	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chrX:139586097C>G	ENST00000370536.2	-	1	1128	c.1129G>C	c.(1129-1131)Gag>Cag	p.E377Q		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	377					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GAGCTGGGCTCAGACTTCACT	0.751000													4	16					0	0	0.009096	0	0
OR2M3	127062	broad.mit.edu	37	1	248366774	248366774	+	Silent	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr1:248366774C>G	ENST00000456743.1	+	1	443	c.405C>G	c.(403-405)ctC>ctG	p.L135L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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)			ACACCAATCTCATGAGCCCTA	0.438000													13	247					0	0	0.001855	0	0
NLRC5	84166	broad.mit.edu	37	16	57101666	57101666	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr16:57101666C>T	ENST00000436936.1	+	36	4650	c.4425C>T	c.(4423-4425)ctC>ctT	p.L1475L	NLRC5_ENST00000308149.7_Silent_p.L1446L|NLRC5_ENST00000539144.1_Silent_p.L1446L|NLRC5_ENST00000262510.6_Silent_p.L1475L			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1475					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGGTTAACCTCTGTGAGGACG	0.507000													5	79					0	0	0.000602	0	0
VPS13D	55187	broad.mit.edu	37	1	12569009	12569009	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:12569009delC	ENST00000358136.3	+	70	13228	c.13098delC	c.(13096-13098)agfs	p.S4366fs	VPS13D_ENST00000543710.1_Frame_Shift_Del_p.S170fs|VPS13D_ENST00000471923.1_Frame_Shift_Del_p.S22fs|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000543766.1_Frame_Shift_Del_p.S364fs|VPS13D_ENST00000356315.4_Frame_Shift_Del_p.S4341fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4365					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACGCAAAGAGCCTCTACTATG	0.522													15	162	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187539957	187539959	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:187539957_187539959delGTG	ENST00000441802.2	-	10	7990_7992	c.7781_7783delCAC	c.(7780-7785)caa>c	p.PQ2594del		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2594	Cadherin 23.				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			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						GCTCGAAATTGTGGTGCATTGTC	0.453										HNSCC(5;0.00058)			8	40	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150924152	150924153	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr5:150924152_150924153insT	ENST00000261800.5	-	9	6547_6548	c.6535_6536insA	c.(6535-6537)agtfs	p.S2179fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2179	Cadherin 19.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			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)			TTCAGGTACTCTGACTTTGTAA	0.500													18	155	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32521769	32521771	+	RNA	DEL	ATT	ATT	-	rs77824792	by1000genomes	TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:32521769_32521771delATT	ENST00000411500.1	-	0	740					NR_001298.1																						AGGTTTAGTGATTTTTATTCCAA	0.429													8	4	---	---	---	---					
SYNE1	23345	broad.mit.edu	37	6	152841678	152841678	+	Splice_Site	DEL	C	C	-			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:152841678delC	ENST00000367255.5	-	6	827		c.e6-1		SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000413186.2_Splice_Site|SYNE1_ENST00000466159.2_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000367253.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000367248.3_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTCACAAGGCTGTAAAAAGT	0.368										HNSCC(10;0.0054)			7	115	---	---	---	---					
LRRC17	10234	broad.mit.edu	37	7	102584992	102584993	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:102584992_102584993insA	ENST00000339431.4	+	4	1559_1560	c.1264_1265insA	c.(1264-1266)aaafs	p.K422fs	LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000313221.4_Intron|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000379305.3_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	422					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TGATGAATGGGAAAAAAAACAT	0.337													14	31	---	---	---	---					
TAS2R41	259287	broad.mit.edu	37	7	143175518	143175518	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:143175518delA	ENST00000408916.1	+	1	553	c.553delA	c.(553-555)aafs	p.K185fs	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	185					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CCCATCCCTGAAACTGGTCAT	0.368													11	74	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139418203	139418204	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr9:139418203_139418204insT	ENST00000277541.6	-	3	443_444	c.368_369insA	c.(367-369)agafs	p.R123fs	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	123	EGF-like 3.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACTTGTACTCCGTCAGCGTGAG	0.708			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			8	28	---	---	---	---					
MGA	23269	broad.mit.edu	37	15	42059359	42059359	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr15:42059359delA	ENST00000219905.7	+	24	9260	c.9079delA	c.(9079-9081)aafs	p.K3027fs	MGA_ENST00000570161.1_Frame_Shift_Del_p.K3027fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.K2988fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.K2818fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.K2818fs	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2988						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGTTGGACACAAAATGAACTT	0.493													28	92	---	---	---	---					
ARVCF	421	broad.mit.edu	37	22	19958829	19958829	+	Frame_Shift_Del	DEL	G	G	-	rs5993890	byFrequency	TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr22:19958829delG	ENST00000263207.3	-	19	3102	c.2811delC	c.(2809-2811)ccfs	p.P937fs	ARVCF_ENST00000344269.3_Frame_Shift_Del_p.P874fs|ARVCF_ENST00000406522.1_Frame_Shift_Del_p.P868fs|ARVCF_ENST00000406259.1_Frame_Shift_Del_p.P931fs|ARVCF_ENST00000401994.1_Frame_Shift_Del_p.P874fs	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	937					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TGCTGGGCCCGGGGGGAGGGG	0.657											OREG0026306	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
VPS13D	55187	broad.mit.edu	37	1	12569009	12569009	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr1:12569009delC	ENST00000358136.3	+	70	13228	c.13098delC	c.(13096-13098)agfs	p.S4366fs	VPS13D_ENST00000543710.1_Frame_Shift_Del_p.S170fs|VPS13D_ENST00000356315.4_Frame_Shift_Del_p.S4341fs|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000543766.1_Frame_Shift_Del_p.S364fs|VPS13D_ENST00000471923.1_Frame_Shift_Del_p.S22fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4365					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACGCAAAGAGCCTCTACTATG	0.522													15	162	---	---	---	---					
RP1-125I3.2	0	broad.mit.edu	37	1	26186960	26186960	+	RNA	DEL	T	T	-			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr1:26186960delT	ENST00000455431.1	+	0	263																											AATTTTGTAATTTTTTTTTTT	0.552													2	4	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150924152	150924153	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr5:150924152_150924153insT	ENST00000261800.5	-	9	6547_6548	c.6535_6536insA	c.(6535-6537)agtfs	p.S2179fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2179	Cadherin 19.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			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)			TTCAGGTACTCTGACTTTGTAA	0.500													18	155	---	---	---	---					
SYNE1	23345	broad.mit.edu	37	6	152841678	152841678	+	Splice_Site	DEL	C	C	-			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr6:152841678delC	ENST00000367255.5	-	6	827		c.e6-1		SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000413186.2_Splice_Site|SYNE1_ENST00000367253.4_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000466159.2_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000367248.3_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTCACAAGGCTGTAAAAAGT	0.368										HNSCC(10;0.0054)			7	115	---	---	---	---					
TAS2R41	259287	broad.mit.edu	37	7	143175518	143175518	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr7:143175518delA	ENST00000408916.1	+	1	553	c.553delA	c.(553-555)aafs	p.K185fs	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	185					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CCCATCCCTGAAACTGGTCAT	0.368													11	74	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139418203	139418204	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr9:139418203_139418204insT	ENST00000277541.6	-	3	443_444	c.368_369insA	c.(367-369)agafs	p.R123fs	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	123	EGF-like 3.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACTTGTACTCCGTCAGCGTGAG	0.708			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			8	28	---	---	---	---					
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639	byFrequency	TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(301-306)ctttttfs	p.LF101fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													8	239	---	---	---	---					
MYO9B	4650	broad.mit.edu	37	19	17294679	17294680	+	Splice_Site	INS	-	-	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr19:17294679_17294680insA	ENST00000595618.1	+	16	2525		c.e16+2		MYO9B_ENST00000397274.2_Splice_Site|MYO9B_ENST00000594824.1_Splice_Site	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB						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.?(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ATTCCAAAGGTAAAAAAAAAAA	0.411													3	4	---	---	---	---					
ARVCF	421	broad.mit.edu	37	22	19958829	19958829	+	Frame_Shift_Del	DEL	G	G	-	rs5993890	byFrequency	TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	02a4bd93-e180-4e48-b703-c6e0262aaa96	g.chr22:19958829delG	ENST00000263207.3	-	19	3102	c.2811delC	c.(2809-2811)ccfs	p.P937fs	ARVCF_ENST00000406522.1_Frame_Shift_Del_p.P868fs|ARVCF_ENST00000406259.1_Frame_Shift_Del_p.P931fs|ARVCF_ENST00000401994.1_Frame_Shift_Del_p.P874fs|ARVCF_ENST00000344269.3_Frame_Shift_Del_p.P874fs	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	937					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TGCTGGGCCCGGGGGGAGGGG	0.657											OREG0026306	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---