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
PKP4	8502	broad.mit.edu	37	2	159481720	159481720	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr2:159481720G>T	ENST00000389757.3	+	7	1059	c.934G>T	c.(934-936)Gtg>Ttg	p.V312L	PKP4_ENST00000389759.3_Missense_Mutation_p.V312L	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	312					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CACCGCCAGAGTGGGGTCCCC	0.632000										HNSCC(62;0.18)			12	22					0.010729	0.010729	1	1	0
WNT11	7481	broad.mit.edu	37	11	75907721	75907721	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr11:75907721G>A	ENST00000322563.3	-	2	249	c.125C>T	c.(124-126)aCg>aTg	p.T42M		NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	42					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GCAGTGTTGCGTCTGGTTCAG	0.637000													5	14					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49039494	49039494	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr13:49039494C>T	ENST00000267163.4	+	23	2617	c.2479C>T	c.(2479-2481)Cca>Tca	p.P827S		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	827	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAAAATGACTCCAAGATCAAG	0.368000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			24	34					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16908636	16908636	+	Missense_Mutation	SNP	C	C	T	rs140641936	byFrequency	TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr19:16908636C>T	ENST00000524140.2	+	16	3816	c.3398C>T	c.(3397-3399)aCg>aTg	p.T1133M	NWD1_ENST00000549814.1_Missense_Mutation_p.T1133M|NWD1_ENST00000552788.1_Missense_Mutation_p.T1133M|NWD1_ENST00000523826.1_Missense_Mutation_p.T927M|NWD1_ENST00000379808.3_Missense_Mutation_p.T1133M|NWD1_ENST00000339803.6_Missense_Mutation_p.T998M	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1133							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATGGTGGAGACGGCTGTTTTT	0.542000													102	162					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2812763	2812763	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr16:2812763C>T	ENST00000301740.8	+	11	2783	c.2234C>T	c.(2233-2235)tCa>tTa	p.S745L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	745	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGGTCCAATTCAAGCCCAGAA	0.468000													15	81					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454817	84454817	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr13:84454817C>A	ENST00000377084.2	-	1	1711	c.826G>T	c.(826-828)Gcc>Tcc	p.A276S		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	276						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCTTCTTGGGCAGGGGGCGCC	0.552000													20	44					1.01871e-10	1.15638e-10	1	1	0
TSPAN10	83882	broad.mit.edu	37	17	79609410	79609410	+	RNA	SNP	G	G	T	rs7406219	by1000genomes	TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr17:79609410G>T	ENST00000328585.4	+	0	62					NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CGGCGCCTGTGCTGGGGGCTT	0.657000													4	64					0.00909568	0.00931753	1	1	0
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway	extracellular region		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692000													5	19					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			95	49					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179629473	179629473	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr2:179629473G>A	ENST00000589042.1	-	42	9993	c.9769C>T	c.(9769-9771)Cgc>Tgc	p.R3257C	TTN_ENST00000359218.5_Missense_Mutation_p.R3211C|TTN_ENST00000460472.2_Missense_Mutation_p.R3211C|TTN_ENST00000342992.6_Missense_Mutation_p.R3257C|TTN_ENST00000591111.1_Missense_Mutation_p.R3257C|TTN_ENST00000360870.5_Missense_Mutation_p.R3257C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R3211C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2987	Ig-like 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACAGAAGCGGGCAGGCTTG	0.507000													22	63					0	0	1	0	0
ECSIT	51295	broad.mit.edu	37	19	11624902	11624902	+	Silent	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr19:11624902C>T	ENST00000270517.7	-	3	366	c.231G>A	c.(229-231)ggG>ggA	p.G77G	ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000592312.1_5'UTR|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000591104.1_Silent_p.G77G|ECSIT_ENST00000252440.7_Silent_p.G77G	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	77					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CAGGCGCCTGCCCAAACAGGT	0.632000													19	22					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468	by1000genomes	TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413000													4	31					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28380836	28380836	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr17:28380836T>C	ENST00000394835.3	+	10	2056	c.1864T>C	c.(1864-1866)Tca>Cca	p.S622P	EFCAB5_ENST00000541045.1_Missense_Mutation_p.S279P|EFCAB5_ENST00000536908.2_Missense_Mutation_p.S566P|EFCAB5_ENST00000320856.5_Missense_Mutation_p.S622P|EFCAB5_ENST00000394832.2_Missense_Mutation_p.S622P|EFCAB5_ENST00000378738.3_Missense_Mutation_p.S622P	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	622							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACAAAGGGTCAGTAGCAGA	0.463000													38	132					0	0	1	0	0
KCTD2	23510	broad.mit.edu	37	17	73055633	73055633	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr17:73055633T>A	ENST00000322444.6	+	4	575	c.569T>A	c.(568-570)cTg>cAg	p.L190Q	KCTD2_ENST00000581589.1_5'UTR	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	190						voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					TACAGAGTCCTGCAGTGTCAG	0.567000													17	19					0	0	1	0	0
KIAA0930	23313	broad.mit.edu	37	22	45601543	45601543	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr22:45601543C>T	ENST00000336156.4	-	4	447	c.382G>A	c.(382-384)Ggg>Agg	p.G128R	KIAA0930_ENST00000251993.7_Missense_Mutation_p.G133R|KIAA0930_ENST00000391627.2_Missense_Mutation_p.G94R|KIAA0930_ENST00000443310.3_Missense_Mutation_p.G110R	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	128							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TGAATGTCCCCGCCGTCAGCA	0.617000													9	12					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													3	35					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120790278	120790278	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr8:120790278T>C	ENST00000378164.2	-	18	2643	c.2345A>G	c.(2344-2346)aAt>aGt	p.N782S		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	782					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCTGTTGTCATTGTACTTGAT	0.289000													5	6					0	0	1	0	0
SLC47A1	55244	broad.mit.edu	37	17	19463805	19463805	+	Splice_Site	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr17:19463805C>T	ENST00000270570.4	+	12	1191	c.1106_splice	c.e12+1	p.R369_splice	SLC47A1_ENST00000457293.1_Splice_Site_p.R369_splice|SLC47A1_ENST00000395585.1_Splice_Site_p.R369_splice|SLC47A1_ENST00000436810.2_Splice_Site_p.R346_splice|SLC47A1_ENST00000571335.1_Splice_Site_p.R174_splice|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Intron	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	369						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TACTACCGACCGGTGAGTGCT	0.403000													16	61					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120611492	120611492	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr12:120611492T>A	ENST00000300648.6	-	14	1343	c.1331A>T	c.(1330-1332)cAt>cTt	p.H444L		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	444					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGTAGGCATGCCTCACCGC	0.502000													6	52					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133801601	133801601	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr11:133801601G>T	ENST00000321016.8	-	9	1430	c.1200C>A	c.(1198-1200)taC>taA	p.Y400*	IGSF9B_ENST00000533871.2_Nonsense_Mutation_p.Y400*			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	400	Ig-like 4.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCAGAGTGTTGTAAGGCACAC	0.602000													5	10					0.000602214	0.000648539	1	1	0
TSSC2	0	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002																											AGCTTCACAGATCCACCGCTG	0.587000													3	13					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466014	10466014	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr8:10466014C>T	ENST00000382483.3	-	4	5817	c.5594G>A	c.(5593-5595)gGg>gAg	p.G1865E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1865					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGGCCTCCCCTTCAGCCTC	0.632000													49	167					0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128973908	128973908	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr10:128973908G>A	ENST00000522781.1	-	4	1307	c.752C>T	c.(751-753)aCg>aTg	p.T251M	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.T251M	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	251										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGCAACCTCCGTTTTAAACAC	0.657000													6	16					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73560398	73560398	+	Silent	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr10:73560398C>T	ENST00000224721.6	+	52	7388	c.7383C>T	c.(7381-7383)gaC>gaT	p.D2461D	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.D216D	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2456	Cadherin 23.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACTAGGGTGACATCTATGTGC	0.507000													8	8					0	0	1	0	0
SDAD1P1	0	broad.mit.edu	37	8	26238955	26238955	+	RNA	SNP	G	G	A			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr8:26238955G>A	ENST00000519902.1	-	0	993																											CTCCTAGATGGAGGGTGGTGG	0.463000													8	14					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr21:11058168A>T	ENST00000470054.1	-	0	479									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACATCTTTCAGGAGCTTGGT	0.388000													4	80					0	0	1	0	0
PRND	23627	broad.mit.edu	37	20	4705313	4705313	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr20:4705313C>T	ENST00000305817.2	+	2	187	c.116C>T	c.(115-117)gCc>gTc	p.A39V		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	39	Flexible tail.				protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						AACCGGAAGGCCCTGCCCAGC	0.622000													4	51					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46390678	46390678	+	Frame_Shift_Del	DEL	C	C	-	rs41301819		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr4:46390678delC	ENST00000507460.1	-	2	378	c.46delG	c.(46-48)ttfs	p.V16fs	GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000510861.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000356504.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000507069.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000515082.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000540012.1_5'UTR|GABRA2_ENST00000381620.4_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000514090.1_Frame_Shift_Del_p.V16fs			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	16					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACCAAGAAAACAAAAAGCAGG	0.368													18	52	---	---	---	---					
HLA-DRB6	0	broad.mit.edu	37	6	32521769	32521771	+	RNA	DEL	ATT	ATT	-	rs77824792	by1000genomes	TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr6:32521769_32521771delATT	ENST00000411500.1	-	0	740					NR_001298.1																						AGGTTTAGTGATTTTTATTCCAA	0.429													7	2	---	---	---	---					
HDAC2	3066	broad.mit.edu	37	6	114292110	114292112	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr6:114292110_114292112delCTG	ENST00000398283.2	-	1	247_249	c.243_245delCAG	c.(241-246)agg>ag	p.SR81del	HDAC2_ENST00000368632.2_5'UTR|HDAC2_ENST00000519065.1_5'UTR|RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA|RP3-399L15.3_ENST00000436876.2_RNA	NM_001527.3	NP_001518.3	Q92769	HDAC2_HUMAN	histone deacetylase 2	0	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.S81R(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GCTCCTCCTCctgctgctgctgc	0.685													2	4	---	---	---	---					
