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
ACRC	93953	broad.mit.edu	37	X	70824051	70824051	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chrX:70824051G>C	ENST00000373695.1	+	7	1461	c.924G>C	c.(922-924)aaG>aaC	p.K308N	ACRC_ENST00000373696.3_Missense_Mutation_p.K308N			Q96QF7	ACRC_HUMAN	acidic repeat containing	308	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCGACGACAAGAGTGATGATT	0.498000													4	231					0	0	1	0	0
FBXW7	0	broad.mit.edu	37	4	153247321	153247321	+	Nonsense_Mutation	SNP	A	A	C			TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr4:153247321A>C	ENST00000281708.4	-	10	2710	c.1481T>G	c.(1480-1482)tTa>tGa	p.L494*	FBXW7_ENST00000296555.5_Nonsense_Mutation_p.L376*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.L318*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.L494*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.L494*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.L414*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	494					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CAAAACATGTAAACACTGGCC	0.433000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								24	78					0	0	1	0	0
SDC1	6382	broad.mit.edu	37	2	20402576	20402576	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr2:20402576T>C	ENST00000381150.1	-	6	1274	c.884A>G	c.(883-885)aAc>aGc	p.N295S	SDC1_ENST00000403076.1_Intron|SDC1_ENST00000482879.1_Intron|SDC1_ENST00000254351.4_Missense_Mutation_p.N295S	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN	syndecan 1	295					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GGCCCCGCCGTTGGCTTGTTT	0.607000													39	101					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345756	33345756	+	Silent	SNP	T	T	C			TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr20:33345756T>C	ENST00000374796.2	-	8	3365	c.795A>G	c.(793-795)caA>caG	p.Q265Q	NCOA6_ENST00000359003.2_Silent_p.Q265Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	265	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q265Q(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gttgttgttgttgctgctgct	0.537000													3	50					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				14	43					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069243	6069243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chrX:6069243G>A	ENST00000381095.3	-	2	892	c.265C>T	c.(265-267)Cag>Tag	p.Q89*	NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381093.2_Nonsense_Mutation_p.Q89*|NLGN4X_ENST00000381092.1_Nonsense_Mutation_p.Q89*|NLGN4X_ENST00000275857.6_Nonsense_Mutation_p.Q89*|NLGN4X_ENST00000538097.1_Nonsense_Mutation_p.Q89*	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	89					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TCTGGGGGCTGAAACCGCCTC	0.582000													4	52					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205888065	205888065	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr1:205888065C>T	ENST00000367135.3	-	19	2272	c.2159G>A	c.(2158-2160)aGt>aAt	p.S720N	SLC26A9_ENST00000367134.2_Missense_Mutation_p.S720N|SLC26A9_ENST00000340781.4_Missense_Mutation_p.S720N	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	720	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GCATTCTAGACTCCCATCCTC	0.493000											OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	269					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394835	154394835	+	Silent	SNP	G	G	T			TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr5:154394835G>T	ENST00000435029.4	+	1	1576	c.1416G>T	c.(1414-1416)ctG>ctT	p.L472L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	472					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCAGCAACTGATTACCCAGT	0.448000													16	58					9.16793e-09	1.03139e-08	1	1	0
FAM46D	169966	broad.mit.edu	37	X	79698776	79698776	+	Silent	SNP	C	C	A			TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chrX:79698776C>A	ENST00000538312.1	+	5	1072	c.738C>A	c.(736-738)ggC>ggA	p.G246G	FAM46D_ENST00000308293.5_Silent_p.G246G	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	246										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TGGTTCATGGCTTCAAGCCAG	0.398000													14	32					1.5842e-08	1.67739e-08	1	1	0
GLRA3	8001	broad.mit.edu	37	4	175564959	175564959	+	Missense_Mutation	SNP	T	T	A			TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr4:175564959T>A	ENST00000274093.3	-	10	1875	c.1373A>T	c.(1372-1374)gAt>gTt	p.D458V	GLRA3_ENST00000340217.5_Missense_Mutation_p.D443V	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	458					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	CTGATGAATATCCTCATGCCT	0.388000													5	85					0	0	1	0	0
MKNK2	2872	broad.mit.edu	37	19	2039729	2039729	+	Silent	SNP	G	G	T			TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr19:2039729G>T	ENST00000250896.3	-	14	1525	c.1281C>A	c.(1279-1281)gtC>gtA	p.V427V	MKNK2_ENST00000309340.7_Intron|MKNK2_ENST00000541165.1_Silent_p.V296V|MKNK2_ENST00000591601.1_Silent_p.V427V|MKNK2_ENST00000591142.1_Intron	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	427					cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTAGCTCGGACCAGGACGG	0.706000													9	21					0.000274275	0.000274275	1	1	0
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C			TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr7:100350361T>C	ENST00000542585.1	+	0	2781				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502000													7	151					0	0	1	0	0
GBAP1	0	broad.mit.edu	37	1	155186821	155186821	+	RNA	SNP	C	C	T			TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr1:155186821C>T	ENST00000486869.1	-	0	483					NR_002188.2																						TCAGGGGTATCTAGAGACAAA	0.592000													3	6					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39799059	39799060	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr1:39799059_39799060insG	ENST00000564288.1	+	37	7576_7577	c.6799_6800insG	c.(6799-6801)ggafs	p.G2267fs	MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2272					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391													19	73	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs148903206		TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										aaaccaaaaacaaaAAAAAAAG	0.416													3	3	---	---	---	---					
NELFA	7469	broad.mit.edu	37	4	1986563	1986563	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr4:1986563delG	ENST00000382882.3	-	8	2158	c.1041delC	c.(1039-1041)tcfs	p.S347fs	NELFA_ENST00000411638.1_Frame_Shift_Del_p.S336fs|NELFA_ENST00000542778.1_Frame_Shift_Del_p.S201fs	NM_005663.4	NP_005654.3			negative elongation factor complex member A																		TGGGGATGTAGGAGGAGGCGG	0.642													2	4	---	---	---	---					
RP11-297P16.3	0	broad.mit.edu	37	4	104493406	104493406	+	RNA	DEL	A	A	-			TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr4:104493406delA	ENST00000502936.1	+	0	189				RP11-297P16.3_ENST00000512401.1_RNA																							ATTCTACCATAAAGACAGTTT	0.438													2	4	---	---	---	---					
CCDC129	223075	broad.mit.edu	37	7	31592800	31592800	+	Splice_Site	DEL	G	G	-			TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr7:31592800delG	ENST00000319386.3	+	2	1155	c.163_splice	c.e2+1	p.L54_splice	CCDC129_ENST00000407970.3_Splice_Site_p.L54_splice|CCDC129_ENST00000482748.1_Intron|CCDC129_ENST00000451887.2_Splice_Site_p.L80_splice			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	54								p.L54L(2)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCCCCATGCTGGGTGAGAAGG	0.552													2	4	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)del	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													7	15	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651200	+	In_Frame_Ins	INS	-	-	GGCTGTGGCTCC	rs71025763		TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr11:1651199_1651200insGGCTGTGGCTCC	ENST00000399676.2	+	1	167_168	c.129_130insGGCTGTGGCTCC	c.(127-132)gggctg>ggGGCTGTGGCTCCgctg	p.43_44GL>GAVAPL		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	43				G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtggggg	0.713													15	69	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs113304321	by1000genomes	TCGA-E8-A434-01A-11D-A23M-08	TCGA-E8-A434-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3e7e827-91b5-4aa7-ae53-c2e5a8026386	8e990c86-db84-4b6e-9b12-40a7dcf45912	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8287-8292)caagca>caCAGagca	p.2763_2763Q>HR	EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564													20	39	---	---	---	---					
