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
ZNF669	79862	broad.mit.edu	37	1	247264279	247264279	+	Silent	SNP	T	T	G			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr1:247264279T>G	uc001ice.2	-	3	965	c.792A>C	c.(790-792)tcA>tcC	p.S264S	ZNF669_uc001icf.2_Silent_p.S178S	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	Homo sapiens zinc finger protein 669 (ZNF669), transcript variant 1, mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GTCTTTCAACTGAATTGAGAA	0.363000													5	79					0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54963317	54963317	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr19:54963317T>C	uc002qfv.1	+	2	230	c.86T>C	c.(85-87)aTg>aCg	p.M29T	LENG8_uc002qfw.2_Missense_Mutation_p.M29T			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	29							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GAGAATGGCATGGAGACGCCG	0.617000													4	125					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110857850	110857850	+	Silent	SNP	T	T	C			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr13:110857850T>C	uc001vqw.4	-	15	1016	c.894A>G	c.(892-894)aaA>aaG	p.K298K		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	298	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CGGGACTCCCTTTTTCCCCTT	0.463000													5	293					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54048691	54048691	+	Splice_Site	SNP	C	C	A			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chrX:54048691C>A	uc004dsu.3	-	4	647	c.401_splice	c.e4+1	p.S134_splice	PHF8_uc004dst.3_Splice_Site_p.S98_splice|PHF8_uc004dsw.3_Splice_Site_p.S98_splice|PHF8_uc004dsy.3_Splice_Site_p.S98_splice	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	134					G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GGGTTCCTCACCTGTCAAAAG	0.572000													32	82					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113259316	113259316	+	Silent	SNP	G	G	A			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr8:113259316G>A	uc003ynu.3	-	63	10314	c.10155C>T	c.(10153-10155)ctC>ctT	p.L3385L	CSMD3_uc003yns.3_Silent_p.L2587L|CSMD3_uc003ynt.3_Silent_p.L3345L|CSMD3_uc011lhx.2_Silent_p.L3216L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3385	Sushi 27.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAGACCCTTGGAGAAGGTGTC	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			3	66					0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31996293	31996293	+	Silent	SNP	C	C	A	rs139543260		TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr6:31996293C>A	uc011dpd.2	+	24	3265	c.3214C>A	c.(3214-3216)Cgg>Agg	p.R1072R	C4B_uc011dpe.2_Silent_p.R1072R	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1072					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										TTGGTTGTCACGGGGCAGCAG	0.622000													3	82					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152496938	152496938	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr2:152496938G>C	uc002txu.3	-	60	8819	c.8616C>G	c.(8614-8616)caC>caG	p.H2872Q	NEB_uc021vrb.1_Missense_Mutation_p.H2872Q|NEB_uc021vrc.1_Missense_Mutation_p.H2872Q|NEB_uc010fnx.3_Missense_Mutation_p.H2872Q|NEB_uc021vrd.1_Missense_Mutation_p.H2872Q	NM_001164507	NP_001157979	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 1, mRNA.	2872					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGTCCACTGGTGCAGGTAGT	0.562000													12	299					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39922927	39922927	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chrX:39922927T>C	uc004den.4	-	7	4073	c.3781A>G	c.(3781-3783)Agg>Ggg	p.R1261G	BCOR_uc004dep.4_Missense_Mutation_p.R1227G|BCOR_uc004deo.4_Missense_Mutation_p.R1209G|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Missense_Mutation_p.R1227G	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1261					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GCCTCTGCCCTTTTCCTGCCA	0.562000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						3	240					0	0	1	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709485	31709485	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr21:31709485G>C	uc002ynx.1	-	0	528	c.502C>G	c.(502-504)Cct>Gct	p.P168A		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	Homo sapiens keratin associated protein 27-1 (KRTAP27-1), mRNA.	168						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						CTGGATTCAGGGTTCTGAGAC	0.478000													5	113					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10713462	10713462	+	Silent	SNP	G	G	A			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr1:10713462G>A	uc001aro.3	-	10	2972	c.2652C>T	c.(2650-2652)gcC>gcT	p.A884A	CASZ1_uc001arp.1_Silent_p.A884A|CASZ1_uc009vmx.2_Silent_p.A908A	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGGGCTTGAGGGCAGCTGCAG	0.657000													27	44					0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67592034	67592034	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr5:67592034C>G	uc003jva.3	+	14	2430	c.1850C>G	c.(1849-1851)cCc>cGc	p.P617R	PIK3R1_uc003jvc.3_Missense_Mutation_p.P317R|PIK3R1_uc003jvd.3_Missense_Mutation_p.P347R|PIK3R1_uc003jve.3_Missense_Mutation_p.P296R|PIK3R1_uc021xzn.1_Missense_Mutation_p.P254R	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	617					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GAAGATTTGCCCCATCATGAT	0.488000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			34	91					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89717730	89717730	+	Missense_Mutation	SNP	A	A	T	rs121909239		TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr10:89717730A>T	uc001kfb.3	+	6	1787	c.755A>T	c.(754-756)gAt>gTt	p.D252V	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	252	C2 tensin-type.		D -> G (in MCEPHAS).		T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.D252Y(4)|p.G251C(4)|p.D252G(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D252_K263>AKE(2)|p.G251D(2)|p.G165_*404del(1)|p.?(1)|p.D252fs*45(1)|p.G165_K342del(1)|p.G251V(1)|p.G251fs*6(1)|p.D252D(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTGTGTGGTGATATCAAAGTA	0.393000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			33	32					0	0	1	0	0
ACSS1	84532	broad.mit.edu	37	20	24988532	24988532	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr20:24988532G>A	uc002wub.3	-	13	2016	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	ACSS1_uc002wuc.3_Missense_Mutation_p.R644W|ACSS1_uc021wbm.1_Intron|ACSS1_uc010gdc.3_Missense_Mutation_p.R441W|ACSS1_uc002wua.3_Missense_Mutation_p.R563W|ACSS1_uc021wbl.1_Missense_Mutation_p.R525W|ACSS1_uc002wud.1_Non-coding_Transcript	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 1 (ACSS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	646					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	AMP binding|ATP binding|acetate-CoA ligase activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTCAGGAGCCGCCGCATGACC	0.567000													3	75					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42610592	42610592	+	Silent	SNP	G	G	A			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr22:42610592G>A	uc003bcj.1	-	0	854	c.720C>T	c.(718-720)tcC>tcT	p.S240S	TCF20_uc003bck.1_Silent_p.S240S	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	240	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						aggaggaggaggaAGCAGAAG	0.512000													3	70					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109369904	109369904	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr1:109369904T>C	uc001dwa.3	-	10	2128	c.1859A>G	c.(1858-1860)aAg>aGg	p.K620R	AKNAD1_uc010ovb.2_Missense_Mutation_p.K327R|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	620										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCCGTGGCCCTTTTTCTCCAC	0.413000													5	251					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116929945	116929945	+	Silent	SNP	G	G	A	rs147430340		TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr1:116929945G>A	uc001ege.3	+	3	558	c.219G>A	c.(217-219)gcG>gcA	p.A73A	ATP1A1_uc010owv.1_Silent_p.A42A|ATP1A1_uc010oww.2_Silent_p.A73A|ATP1A1_uc010owx.2_Silent_p.A42A	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	73					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AGATCCTGGCGCGAGATGGTC	0.498000													23	74					0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76551012	76551012	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr6:76551012T>C	uc003pih.1	+	8	1012	c.733T>C	c.(733-735)Tat>Cat	p.Y245H	MYO6_uc003pig.1_Missense_Mutation_p.Y245H|MYO6_uc003pii.1_Missense_Mutation_p.Y245H	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	245	Myosin head-like.				DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GGAAAGAAATTATCATATCTT	0.353000													4	92					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47859529	47859529	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr3:47859529C>T	uc003cru.3	+	3	472	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	DHX30_uc003crs.2_5'UTR|DHX30_uc003crt.3_5'UTR	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	16						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ccagcacaggcagcgtcagtg	0.607000													56	218					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149500817	149500817	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr5:149500817C>T	uc003lro.3	-	16	2882	c.2413G>A	c.(2413-2415)Ggc>Agc	p.G805S	PDGFRB_uc010jhd.3_Missense_Mutation_p.G644S	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	805	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAGCTGAAGCCCACGAGGTCC	0.582000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								34	75					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10390572	10390572	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr5:10390572C>T	uc003jet.1	+	5	719	c.536C>T	c.(535-537)gCt>gTt	p.A179V	MARCH6_uc011cmu.1_Missense_Mutation_p.A131V|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.A74V	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	179					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTGGAGCATGCTGCCCCACCG	0.488000													20	85					0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99121092	99121092	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EM-A3O6-01A-11D-A21Z-08	TCGA-EM-A3O6-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218ddc02-caab-436d-b47c-e4f07635203e	e0b8abac-6f27-4ab9-9543-28c721de2bf1	g.chr12:99121092delA	uc001tfz.3	+	25	4175	c.3598delA	c.(3598-3600)aagfs	p.K1200fs	APAF1_uc001tfy.3_Frame_Shift_Del_p.K1189fs|APAF1_uc001tga.3_Frame_Shift_Del_p.K1146fs|APAF1_uc001tgb.3_Frame_Shift_Del_p.K1157fs|APAF1_uc001tgc.3_Intron|APAF1_uc009zto.3_Frame_Shift_Del_p.K524fs	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	1200					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	AGGATATATTAAGGTAAGAGT	0.428													41	69	---	---	---	---