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
C15orf54	400360	broad.mit.edu	37	15	39544862	39544862	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr15:39544862A>G	ENST00000318578.3	+	2	894	c.526A>G	c.(526-528)Atg>Gtg	p.M176V	RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.M176V	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	176										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		GTTCAATGTCATGGCTGTAAG	0.468000													7	57					0	0	0.000157383	0	0
OR2T35	403244	broad.mit.edu	37	1	248801912	248801912	+	Silent	SNP	C	C	G	rs146851066	by1000genomes	TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr1:248801912C>G	ENST00000317450.3	-	1	647	c.648G>C	c.(646-648)gtG>gtC	p.V216V		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V216V(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCGTGTAGGACACAGAGATGA	0.542000													4	9					0	0	0.00024832	0	0
TTN	7273	broad.mit.edu	37	2	179597184	179597184	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr2:179597184G>T	ENST00000589042.1	-	56	16828	c.16604C>A	c.(16603-16605)gCa>gAa	p.A5535E	TTN_ENST00000591111.1_Missense_Mutation_p.A5218E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A4291E|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5218	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A4291fs*2(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAACAAGTTTGCACTGCATTC	0.388000													13	65					4.3838e-07	1.81385e-05	0.000151284	1	0
JMY	133746	broad.mit.edu	37	5	78610271	78610271	+	Silent	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr5:78610271C>T	ENST00000396137.4	+	9	2718	c.2256C>T	c.(2254-2256)ccC>ccT	p.P752P	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	752					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CAACAGAACCCCAGAGCCTTG	0.458000													26	126					0	0	5.49717e-05	0	0
SCN2A	6326	broad.mit.edu	37	2	166231203	166231203	+	Silent	SNP	A	A	G			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr2:166231203A>G	ENST00000357398.3	+	22	4271	c.3981A>G	c.(3979-3981)gtA>gtG	p.V1327V	SCN2A_ENST00000375427.2_Silent_p.V1327V|SCN2A_ENST00000375437.2_Silent_p.V1327V|SCN2A_ENST00000283256.6_Silent_p.V1327V			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1327					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGGTTGTTGTAAATGCTCTTT	0.328000													18	129					0	0	0.000175454	0	0
FAF2	23197	broad.mit.edu	37	5	175927084	175927084	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr5:175927084C>G	ENST00000261942.6	+	10	1145	c.1092C>G	c.(1090-1092)atC>atG	p.I364M		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	364	UBX.				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GTGTCAAGATCATCTTCAAAT	0.433000													14	115					0	0	5.01169e-05	0	0
ATP5A1	498	broad.mit.edu	37	18	43675070	43675070	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr18:43675070A>C	ENST00000282050.2	-	3	232	c.88T>G	c.(88-90)Ttc>Gtc	p.F30V	ATP5A1_ENST00000398752.6_Missense_Mutation_p.F30V|ATP5A1_ENST00000590665.1_Missense_Mutation_p.F30V|ATP5A1_ENST00000593152.2_5'UTR|ATP5A1_ENST00000591267.1_5'UTR	NM_001001937.1	NP_001001937.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	30					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						GCAGCAATGAAAGATGAACCC	0.343000													10	40					0	0	0.000151284	0	0
RDH10	157506	broad.mit.edu	37	8	74235028	74235028	+	Silent	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr8:74235028C>T	ENST00000240285.5	+	5	1563	c.885C>T	c.(883-885)atC>atT	p.I295I	RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA|RDH10_ENST00000519380.1_Silent_p.I130I	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	295					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TCATGTACATCGTGACCTTCA	0.522000													29	41					0	0	0.000227799	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195349	18195349	+	Silent	SNP	G	G	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr11:18195349G>A	ENST00000314254.3	+	1	966	c.546G>A	c.(544-546)gcG>gcA	p.A182A	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	182			A -> V (in dbSNP:rs11024532).			integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TCCCAGTCGCGTGGCTGATTT	0.512000													21	101					0	0	0.000229342	0	0
SUCO	51430	broad.mit.edu	37	1	172501623	172501623	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr1:172501623T>G	ENST00000367723.3	+	1	135	c.11T>G	c.(10-12)tTc>tGc	p.F4C		NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		ATGAGAGGATTCTTGGCACGC	0.498000													6	34					0	0	8.12818e-05	0	0
DYNLRB1	83658	broad.mit.edu	37	20	33122560	33122560	+	Silent	SNP	C	C	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr20:33122560C>A	ENST00000417166.2	+	3	241	c.208C>A	c.(208-210)Cga>Aga	p.R70R	DYNLRB1_ENST00000357156.2_Silent_p.R70R|DYNLRB1_ENST00000480759.1_3'UTR|DYNLRB1_ENST00000374846.3_Silent_p.R122R			Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	70					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity			endometrium(1)|large_intestine(1)|lung(1)	3						CACCTTCCTTCGAATTCGCTC	0.537000													7	50					5.18039e-06	0.000212244	0.000157383	1	0
SLC26A3	1811	broad.mit.edu	37	7	107418723	107418723	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr7:107418723T>A	ENST00000340010.5	-	13	1595	c.1411A>T	c.(1411-1413)Att>Ttt	p.I471F	SLC26A3_ENST00000422236.2_Missense_Mutation_p.I436F	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	471					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATGATCCAAATTAACTGTGAA	0.393000													5	34					0	0	1.23904e-05	0	0
CPED1	79974	broad.mit.edu	37	7	120906769	120906769	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr7:120906769C>T	ENST00000310396.5	+	20	3007	c.2540C>T	c.(2539-2541)cCc>cTc	p.P847L		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		AGATCACGTCCCCTAGAGAAT	0.398000													9	89					0	0	3.86212e-05	0	0
EGFR	1956	broad.mit.edu	37	7	55221747	55221747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr7:55221747G>A	ENST00000275493.2	+	7	968	c.791G>A	c.(790-792)tGc>tAc	p.C264Y	EGFR_ENST00000342916.3_Missense_Mutation_p.C264Y|EGFR_ENST00000344576.2_Missense_Mutation_p.C264Y|EGFR_ENST00000455089.1_Missense_Mutation_p.C219Y|EGFR_ENST00000442591.1_Missense_Mutation_p.C264Y|EGFR_ENST00000454757.2_Missense_Mutation_p.C211Y|EGFR_ENST00000420316.2_Missense_Mutation_p.C264Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	264					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAGGACACCTGCCCCCCACTC	0.577000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			9	44					0	0	2.17888e-05	0	0
NSUN4	387338	broad.mit.edu	37	1	46818685	46818685	+	Silent	SNP	G	G	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr1:46818685G>A	ENST00000474844.1	+	4	1388	c.738G>A	c.(736-738)ggG>ggA	p.G246G	NSUN4_ENST00000537428.1_Silent_p.G197G|NSUN4_ENST00000536062.1_Silent_p.G197G|NSUN4_ENST00000498008.1_3'UTR	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	246							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					AACTGGAGGGGGACACCTATG	0.517000													5	48					0	0	8.12818e-05	0	0
OR1E2	8388	broad.mit.edu	37	17	3337014	3337014	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr17:3337014C>T	ENST00000248384.1	-	1	121	c.122G>A	c.(121-123)gGg>gAg	p.G41E		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	41					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						GAGGAGGTTCCCCAGGAGGGT	0.527000													26	49					0	0	0.000191422	0	0
APC	324	broad.mit.edu	37	5	112175907	112175907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr5:112175907C>T	ENST00000457016.1	+	16	4996	c.4616C>T	c.(4615-4617)tCa>tTa	p.S1539L	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.S1539L|APC_ENST00000508376.2_Missense_Mutation_p.S1539L			P25054	APC_HUMAN	adenomatous polyposis coli	1539	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.E1540fs*4(1)|p.K1192fs*3(1)|p.?(1)|p.S1539*(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAAACAGAATCAGAGCAGCCT	0.368000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			12	72					0	0	6.40141e-05	0	0
FAF2	23197	broad.mit.edu	37	5	175927043	175927043	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr5:175927043C>T	ENST00000261942.6	+	10	1104	c.1051C>T	c.(1051-1053)Ccc>Tcc	p.P351S		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	351					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GGAATGCCTGCCCCCTGAACC	0.428000													14	111					0	0	2.31682e-05	0	0
PLCH1	23007	broad.mit.edu	37	3	155199996	155199996	+	Silent	SNP	G	G	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr3:155199996G>A	ENST00000460012.1	-	23	4086	c.3729C>T	c.(3727-3729)ccC>ccT	p.P1243P	PLCH1_ENST00000340059.7_Silent_p.P1281P|PLCH1_ENST00000414191.1_Silent_p.P1243P|PLCH1_ENST00000334686.6_Silent_p.P1243P|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1281					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTTAGAGATGGGAGTGCAGG	0.488000													32	176					0	0	0.000132358	0	0
ZNF676	163223	broad.mit.edu	37	19	22363738	22363738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr19:22363738C>T	ENST00000397121.2	-	3	1098	c.781G>A	c.(781-783)Gga>Aga	p.G261R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTACTAAATCCTTTGCCACAT	0.393000													15	37					0	0	5.01169e-05	0	0
ZNF208	7757	broad.mit.edu	37	19	22154362	22154362	+	Silent	SNP	A	A	G			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr19:22154362A>G	ENST00000397126.4	-	4	3622	c.3474T>C	c.(3472-3474)taT>taC	p.Y1158Y	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTTCTTATGATAACTAAGGG	0.353000													5	41					0	0	8.12818e-05	0	0
SLC17A1	6568	broad.mit.edu	37	6	25813338	25813338	+	Silent	SNP	G	G	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr6:25813338G>T	ENST00000244527.4	-	7	835	c.720C>A	c.(718-720)tcC>tcA	p.S240S	SLC17A1_ENST00000427328.1_Silent_p.S240S|SLC17A1_ENST00000476801.1_Silent_p.S240S|SLC17A1_ENST00000468082.1_Silent_p.S240S	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	240					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GGACCAGGGAGGATGTGATGT	0.433000													18	96					5.3912e-06	0.000218736	7.07596e-05	1	0
KCND2	3751	broad.mit.edu	37	7	119914938	119914938	+	Silent	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr7:119914938C>T	ENST00000331113.4	+	1	1217	c.252C>T	c.(250-252)ttC>ttT	p.F84F		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	84	Interaction with KCNIP1 (By similarity).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AGCAGTATTTCTTTGACCGTG	0.527000													21	149					0	0	0.000295444	0	0
HERC2	8924	broad.mit.edu	37	15	28386694	28386694	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr15:28386694C>G	ENST00000261609.7	-	78	12007	c.11899G>C	c.(11899-11901)Ggc>Cgc	p.G3967R		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3967					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTTCAATGCCCCCGAGCTGG	0.527000													22	92					0	0	0.000295444	0	0
UNC119	9094	broad.mit.edu	37	17	26874678	26874678	+	Silent	SNP	A	A	G			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr17:26874678A>G	ENST00000470125.1	-	3	1100	c.342T>C	c.(340-342)tcT>tcC	p.S114S	UNC119_ENST00000301032.4_Silent_p.S209S|UNC119_ENST00000335765.4_Intron|UNC119_ENST00000484980.1_Intron			Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	0					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					CACTCCCAGAAGACCCTGCCC	0.607000													14	27					0	0	3.45872e-05	0	0
MAGI1	9223	broad.mit.edu	37	3	65342698	65342698	+	Silent	SNP	G	G	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr3:65342698G>T	ENST00000402939.2	-	23	3743	c.3744C>A	c.(3742-3744)ccC>ccA	p.P1248P	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1277					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGTGAAGATCGGGTGGGTAAC	0.612000													10	64					4.3838e-07	1.81385e-05	0.000151284	1	0
SLC24A3	57419	broad.mit.edu	37	20	19677546	19677546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr20:19677546G>A	ENST00000328041.6	+	14	1794	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	533						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTCATTGTGGCCAGACAAGG	0.607000													6	49					0	0	8.12818e-05	0	0
ZNF423	23090	broad.mit.edu	37	16	49672451	49672451	+	Silent	SNP	G	G	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr16:49672451G>T	ENST00000561648.1	-	4	665	c.612C>A	c.(610-612)tcC>tcA	p.S204S	ZNF423_ENST00000562520.1_Silent_p.S144S|ZNF423_ENST00000262383.2_Silent_p.S204S|ZNF423_ENST00000563137.2_Silent_p.S144S|ZNF423_ENST00000567169.1_Silent_p.S87S|ZNF423_ENST00000562871.1_Silent_p.S144S|ZNF423_ENST00000535559.1_Silent_p.S87S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	204					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGTCGCTGCGGGAGAAGGCTG	0.612000													12	35					0.000151284	0.00607902	0.000151284	1	0
SLC5A1	6523	broad.mit.edu	37	22	32464543	32464543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr22:32464543C>T	ENST00000266088.4	+	5	683	c.433C>T	c.(433-435)Ctt>Ttt	p.L145F	SLC5A1_ENST00000543737.1_Missense_Mutation_p.L18F	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	145					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						CCAGGTCTACCTTTCCCTTCT	0.582000													18	47					0	0	0.000295444	0	0
PNKD	25953	broad.mit.edu	37	2	219137441	219137441	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr2:219137441C>A	ENST00000248451.3	+	3	529	c.385C>A	c.(385-387)Cag>Aag	p.Q129K	PNKD_ENST00000273077.4_Intron|PNKD_ENST00000472650.1_Intron	NM_001077399.2	NP_001070867.1	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	0						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTTCCTCCCAGAGTGCCCC	0.592000											OREG0015199	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	60	142					9.64103e-21	4.37933e-19	0.000147903	1	0
XK	7504	broad.mit.edu	37	X	37545249	37545249	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chrX:37545249T>G	ENST00000378616.3	+	1	238	c.35T>G	c.(34-36)tTc>tGc	p.F12C	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	12					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GCGTCCGTGTTCCTGTTCGTG	0.697000													3	2					0	0	0.00024832	0	0
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs112443847		TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716000													3	24					0	0	6.4e-05	0	0
PRSS27	83886	broad.mit.edu	37	16	2763567	2763567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr16:2763567C>T	ENST00000302641.3	-	5	695	c.641G>A	c.(640-642)tGc>tAc	p.C214Y		NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	214	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						GAAGCCGGCGCACAGCATGTC	0.592000													16	89					0	0	0.000175454	0	0
WDR41	55255	broad.mit.edu	37	5	76734149	76734149	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr5:76734149T>C	ENST00000296679.4	-	10	1295	c.920A>G	c.(919-921)tAt>tGt	p.Y307C	WDR41_ENST00000507029.1_Missense_Mutation_p.Y252C|WDR41_ENST00000414719.2_Missense_Mutation_p.Y53C	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	307										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TTGAAGGCTATACACGTATAA	0.448000													23	74					0	0	0.000229342	0	0
ZNF99	7652	broad.mit.edu	37	19	22940294	22940294	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr19:22940294T>A	ENST00000397104.3	-	5	2143	c.2144A>T	c.(2143-2145)aAa>aTa	p.K715I	ZNF99_ENST00000596209.1_Missense_Mutation_p.K806I					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATCTCATGTTTTCTAAGGGT	0.333000													11	37					0	0	3.86212e-05	0	0
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706000													5	20					0	0	1.23904e-05	0	0
SVIL	6840	broad.mit.edu	37	10	29769471	29769471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr10:29769471G>A	ENST00000375398.2	-	31	5821	c.5372C>T	c.(5371-5373)aCg>aTg	p.T1791M	SVIL_ENST00000538146.1_Missense_Mutation_p.T583M|SVIL_ENST00000460007.1_Intron|SVIL_ENST00000535393.1_Missense_Mutation_p.T705M|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.T1791M|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.T1365M|PTCHD3P1_ENST00000423223.1_RNA			O95425	SVIL_HUMAN	supervillin	1791					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTAACCTGCCGTGCTCACCAT	0.562000													15	48					0	0	0.000175454	0	0
SGSM1	129049	broad.mit.edu	37	22	25255689	25255689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr22:25255689G>A	ENST00000400358.4	+	9	865	c.808G>A	c.(808-810)Gac>Aac	p.D270N	SGSM1_ENST00000400359.4_Missense_Mutation_p.D270N	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	270						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCAGAGGGACGACATGGAGGC	0.562000													9	25					0	0	0.000274275	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67859130	67859130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr16:67859130G>A	ENST00000388833.3	+	7	984	c.607G>A	c.(607-609)Gag>Aag	p.E203K	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.E257K|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.E188K|TSNAXIP1_ENST00000562321.1_3'UTR	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	203					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		AGACCTGAATGAGCTGCGGTA	0.532000													8	73					0	0	2.17888e-05	0	0
P2RX7	5027	broad.mit.edu	37	12	121593937	121593937	+	Missense_Mutation	SNP	G	G	A	rs146441492	byFrequency	TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr12:121593937G>A	ENST00000546057.1	+	3	493	c.350G>A	c.(349-351)cGg>cAg	p.R117Q	P2RX7_ENST00000535250.1_Missense_Mutation_p.R27Q|P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000377162.2_Missense_Mutation_p.R117Q|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000328963.5_5'UTR	NM_002562.5	NP_002553.3	A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	117						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGAGCAGCGGTTGTGTCCC	0.522000													54	301					0	0	0.000147903	0	0
TAF1L	138474	broad.mit.edu	37	9	32631651	32631651	+	Silent	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr9:32631651C>T	ENST00000242310.4	-	1	4016	c.3927G>A	c.(3925-3927)tcG>tcA	p.S1309S		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1309					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAACAGGTTTCGAAGGTGGCA	0.428000													75	129					0	0	0.000147903	0	0
MYOM1	8736	broad.mit.edu	37	18	3116374	3116374	+	Silent	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr18:3116374C>T	ENST00000400569.3	-	21	3591	c.3258G>A	c.(3256-3258)caG>caA	p.Q1086Q	MYOM1_ENST00000261606.7_Silent_p.Q990Q|MYOM1_ENST00000356443.4_Silent_p.Q1086Q			P52179	MYOM1_HUMAN	myomesin 1	1086	Fibronectin type-III 5.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCCCTCGCCACTGGTCTTCTT	0.527000													8	23					0	0	2.17888e-05	0	0
URM1	81605	broad.mit.edu	37	9	131140306	131140306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr9:131140306C>T	ENST00000372847.1	+	2	78	c.68C>T	c.(67-69)tCc>tTc	p.S23F	URM1_ENST00000452446.1_Intron|URM1_ENST00000372850.1_Intron|URM1_ENST00000372853.4_Intron			Q9BTM9	URM1_HUMAN	ubiquitin related modifier 1	0					tRNA thio-modification|tRNA wobble uridine modification		protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						CTCTGGTCCTCCTTTGCAGAG	0.502000													25	45					0	0	0.000279167	0	0
NFX1	4799	broad.mit.edu	37	9	33328583	33328583	+	Silent	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr9:33328583C>T	ENST00000379540.3	+	10	1973	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F	NFX1_ENST00000379521.4_Silent_p.F637F|NFX1_ENST00000318524.6_Silent_p.F637F	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	637					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TTAAAGATTTCATTCATACCT	0.418000													15	77					0	0	2.31682e-05	0	0
HEATR6	63897	broad.mit.edu	37	17	58144970	58144970	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr17:58144970C>T	ENST00000184956.6	-	8	1079	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	HEATR6_ENST00000585976.1_Missense_Mutation_p.E355K	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	355							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GTGTTCCCTTCATGCAGGTTC	0.507000													6	36					0	0	3.59834e-05	0	0
PTPN18	26469	broad.mit.edu	37	2	131116970	131116970	+	Splice_Site	SNP	G	G	C			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr2:131116970G>C	ENST00000175756.5	+	4	381	c.279_splice	c.e4-1	p.G94_splice	PTPN18_ENST00000420717.1_3'UTR|PTPN18_ENST00000347849.3_Intron	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	94	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					CCTTCACCAGGGCGTGGATGG	0.607000													7	45					0	0	8.12818e-05	0	0
IFNA21	3452	broad.mit.edu	37	9	21166051	21166051	+	Silent	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr9:21166051C>T	ENST00000380225.1	-	1	608	c.561G>A	c.(559-561)agG>agA	p.R187R		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	187					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TTCATTCCTTCCTCCTTAATC	0.383000													16	79					0	0	2.31682e-05	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43555412	43555412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr17:43555412C>T	ENST00000430334.3	-	3	283	c.150G>A	c.(148-150)atG>atA	p.M50I	PLEKHM1_ENST00000421073.2_Intron	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	50	RUN.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GGGCGCTGCACATGGTGTTGG	0.567000													12	32					0	0	0.00010058	0	0
HEPACAM	220296	broad.mit.edu	37	11	124792340	124792340	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr11:124792340G>A	ENST00000298251.4	-	6	1297	c.892C>T	c.(892-894)Cga>Tga	p.R298*		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	298					cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		p.R298*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TCACCACTTCGAGGGAGGGTG	0.607000													25	91					0	0	9.22233e-05	0	0
NLRP7	199713	broad.mit.edu	37	19	55445871	55445871	+	Silent	SNP	G	G	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr19:55445871G>A	ENST00000446217.1	-	9	2943	c.2541C>T	c.(2539-2541)ttC>ttT	p.F847F	NLRP7_ENST00000340844.2_Silent_p.F819F|NLRP7_ENST00000328092.5_Silent_p.F791F|NLRP7_ENST00000448121.2_Silent_p.F791F|NLRP7_ENST00000592784.1_Silent_p.F819F|NLRP7_ENST00000588756.1_Silent_p.F819F|NLRP7_ENST00000590030.1_Silent_p.F819F			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	819							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ACATCTGCAGGAAGTGTTTTG	0.532000													12	80					0	0	0.000151284	0	0
MAN2B1	4125	broad.mit.edu	37	19	12767424	12767424	+	Silent	SNP	G	G	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr19:12767424G>A	ENST00000456935.2	-	13	1645	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	MAN2B1_ENST00000221363.4_Silent_p.F534F	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	535					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTTCACAACGAAAACGCCTT	0.587000													13	62					0	0	0.00010058	0	0
CYP4F11	57834	broad.mit.edu	37	19	16040288	16040288	+	Missense_Mutation	SNP	G	G	A	rs138578304		TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr19:16040288G>A	ENST00000326742.7	-	2	323	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	CYP4F11_ENST00000248041.7_Missense_Mutation_p.R108W|CYP4F11_ENST00000402119.3_Missense_Mutation_p.R108W			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	108					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GTGATAGGCCGGATAATGTCA	0.557000													21	120					0	0	5.49717e-05	0	0
SLC7A11	23657	broad.mit.edu	37	4	139163201	139163201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr4:139163201G>A	ENST00000280612.5	-	1	302	c.23C>T	c.(22-24)tCc>tTc	p.S8F		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	8					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	GGAGATGGTGGACACAACAGG	0.493000													6	21					0	0	3.59834e-05	0	0
TGFB3	7043	broad.mit.edu	37	14	76437468	76437468	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr14:76437468C>T	ENST00000238682.3	-	3	944		c.e3+1		RP11-270M14.5_ENST00000553732.1_lincRNA|TGFB3_ENST00000556285.1_Splice_Site	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3						cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		GGTCCACCTACCTCTTCTCAA	0.517000													14	77					0	0	2.31682e-05	0	0
RTKN	6242	broad.mit.edu	37	2	74654713	74654713	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr2:74654713G>A	ENST00000305557.5	-	11	1639	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	RTKN_ENST00000233330.6_Nonsense_Mutation_p.R315*|RTKN_ENST00000272430.5_Nonsense_Mutation_p.R365*	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	365	PH.				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						GCCCGGACTCGAGTCTCCTGC	0.547000													25	141					0	0	0.000147802	0	0
IL31RA	133396	broad.mit.edu	37	5	55206397	55206397	+	Silent	SNP	G	G	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr5:55206397G>A	ENST00000396834.1	+	14	1978	c.1482G>A	c.(1480-1482)ctG>ctA	p.L494L	IL31RA_ENST00000359040.5_Silent_p.L513L|IL31RA_ENST00000447346.2_Silent_p.L513L|IL31RA_ENST00000490985.1_Silent_p.L371L|IL31RA_ENST00000354961.4_Silent_p.L494L	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	481	Fibronectin type-III 5.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTACGGCCTGGAGTCCCTGA	0.468000													13	69					0	0	2.31682e-05	0	0
FMO2	2327	broad.mit.edu	37	1	171173122	171173122	+	Missense_Mutation	SNP	G	G	A	rs147029269	byFrequency	TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr1:171173122G>A	ENST00000441535.1	+	6	863	c.746G>A	c.(745-747)cGa>cAa	p.R249Q	RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.R249Q|FMO2_ENST00000529935.1_3'UTR|RP1-45C12.1_ENST00000455124.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	249					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTACTGCCACGAACAGCTGTA	0.453000													5	72					0	0	3.59834e-05	0	0
ESPNP	284729	broad.mit.edu	37	1	17046577	17046577	+	RNA	SNP	A	A	G			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr1:17046577A>G	ENST00000492551.1	-	0	75					NR_026567.1																						CCATGATGCAAGAGCCAGTTC	0.602000													9	52					0	0	2.17888e-05	0	0
SLIT3	6586	broad.mit.edu	37	5	168271604	168271604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr5:168271604C>T	ENST00000519560.1	-	6	961	c.542G>A	c.(541-543)cGc>cAc	p.R181H	SLIT3_ENST00000404867.3_Missense_Mutation_p.R181H|SLIT3_ENST00000332966.8_Missense_Mutation_p.R181H	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	181					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCAAATCGCGCAGCGCTCG	0.562000													21	16					0	0	0.000117367	0	0
INPP4A	3631	broad.mit.edu	37	2	99149957	99149957	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr2:99149957A>G	ENST00000074304.5	+	5	662	c.270_splice	c.e5+1	p.E90_splice	INPP4A_ENST00000409016.3_Splice_Site_p.E90_splice|INPP4A_ENST00000545415.1_Splice_Site_p.E90_splice|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000523221.1_Splice_Site_p.E90_splice|INPP4A_ENST00000409851.3_Splice_Site_p.E90_splice|INPP4A_ENST00000409540.3_Splice_Site_p.E90_splice	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	90	C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GAGATCATTGAGGTGGGTGCT	0.522000													5	52					0	0	3.59834e-05	0	0
GRM8	2918	broad.mit.edu	37	7	126173763	126173763	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr7:126173763A>G	ENST00000339582.2	-	9	2481	c.1673T>C	c.(1672-1674)cTg>cCg	p.L558P	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.L558P|GRM8_ENST00000444921.2_Missense_Mutation_p.L558P			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	558					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCTCTGATCCAGAGGGCAAAG	0.532000										HNSCC(24;0.065)			18	107					0	0	0.000175454	0	0
SPTA1	6708	broad.mit.edu	37	1	158614069	158614069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr1:158614069C>T	ENST00000368148.3	-	30	4492	c.4312G>A	c.(4312-4314)Gat>Aat	p.D1438N	SPTA1_ENST00000368147.3_Missense_Mutation_p.D1438N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1438					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGTCCAAATCGTCCCGTTTC	0.403000													11	94					0	0	0.000151284	0	0
HLA-B	3106	broad.mit.edu	37	6	31323218	31323218	+	Silent	SNP	G	G	C			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr6:31323218G>C	ENST00000412585.2	-	4	799	c.771C>G	c.(769-771)acC>acG	p.T257T		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CTGCTGGTCTGGTCTCCACAA	0.587000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				14	60					0	0	0.000219431	0	0
CLVS1	157807	broad.mit.edu	37	8	62212623	62212623	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr8:62212623T>G	ENST00000519846.1	+	3	709	c.237T>G	c.(235-237)ttT>ttG	p.F79L	CLVS1_ENST00000325897.4_Missense_Mutation_p.F79L|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	79					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCCTGAGATTTCTCCGAGCCA	0.463000													4	51					0	0	0.00024832	0	0
SIRT4	23409	broad.mit.edu	37	12	120750786	120750786	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr12:120750786C>A	ENST00000202967.4	+	4	951	c.892C>A	c.(892-894)Ctg>Atg	p.L298M	SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	298	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTGGCGTGTCTGAAACTGAA	0.493000													28	88					7.01153e-11	3.08434e-09	0.000184323	1	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	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				73	28					0	0	0.000147903	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435182	104435182	+	RNA	SNP	G	G	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr5:104435182G>A	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							TTAACGGCAGGAAAATCATCA	0.358000													10	9					0	0	2.17888e-05	0	0
CDKL3	51265	broad.mit.edu	37	5	133657520	133657520	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr5:133657520G>C	ENST00000521118.1	-	5	728	c.614C>G	c.(613-615)tCt>tGt	p.S205C	CDKL3_ENST00000518409.1_5'UTR|CDKL3_ENST00000435211.1_Missense_Mutation_p.S205C|CDKL3_ENST00000536186.1_5'UTR|CDKL3_ENST00000523832.1_Missense_Mutation_p.S205C|CDKL3_ENST00000521755.1_Missense_Mutation_p.S16C|CDKL3_ENST00000265334.4_Missense_Mutation_p.S205C|CDKL3_ENST00000435240.2_5'UTR|CDKL3_ENST00000523054.1_Missense_Mutation_p.S16C			Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	205	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCCAAATCAGAACTACTAGG	0.358000													4	30					0	0	3.59834e-05	0	0
ZNF536	9745	broad.mit.edu	37	19	31039944	31039944	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr19:31039944C>A	ENST00000355537.3	+	4	3565	c.3418C>A	c.(3418-3420)Cac>Aac	p.H1140N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGGAAAGGCCCACTCTGAAGA	0.542000													14	44					4.3838e-07	1.81385e-05	0.000151284	1	0
STAU2	27067	broad.mit.edu	37	8	74516060	74516060	+	Silent	SNP	G	G	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr8:74516060G>A	ENST00000355780.5	-	9	1052	c.834C>T	c.(832-834)agC>agT	p.S278S	STAU2_ENST00000521451.1_Silent_p.S90S|STAU2_ENST00000519961.1_Silent_p.S310S|STAU2_ENST00000522695.1_Silent_p.S278S|STAU2_ENST00000521210.1_Silent_p.S206S|STAU2_ENST00000524300.1_Silent_p.S310S|STAU2_ENST00000522509.1_Silent_p.S278S|STAU2_ENST00000523558.1_Silent_p.S138S|STAU2_ENST00000521727.1_Silent_p.S290S|STAU2_ENST00000517542.1_Silent_p.S272S	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	310					transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GCGCCAGGCGGCTAATAGGGT	0.408000													14	47					0	0	0.000219431	0	0
ATP6V1F	9296	broad.mit.edu	37	7	128505545	128505545	+	Silent	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr7:128505545C>T	ENST00000492758.1	+	3	358	c.357C>T	c.(355-357)atC>atT	p.I119I	ATP6V1F_ENST00000249289.4_Silent_p.I91I	NM_001198909.1	NP_001185838.1	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F	91					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism			lung(1)|ovary(1)|prostate(1)	3						TCCTGGAGATCCCCTCCAAGG	0.612000													5	40					0	0	1.23904e-05	0	0
CRX	1406	broad.mit.edu	37	19	48343031	48343031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr19:48343031C>T	ENST00000221996.7	+	4	913	c.707C>T	c.(706-708)cCc>cTc	p.P236L	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.P236L	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	236					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GCTCTTAGCCCCCTCTCTGGC	0.647000													22	123					0	0	5.49717e-05	0	0
ANPEP	290	broad.mit.edu	37	15	90347174	90347174	+	Silent	SNP	G	G	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr15:90347174G>A	ENST00000300060.6	-	7	1552	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	413	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CGTAGGAGGCGAAGCCCTCGT	0.642000													14	23					0	0	7.07596e-05	0	0
TRPM2	7226	broad.mit.edu	37	21	45825902	45825902	+	Silent	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr21:45825902C>T	ENST00000397928.1	+	18	3217	c.2772C>T	c.(2770-2772)atC>atT	p.I924I	TRPM2_ENST00000397932.2_Silent_p.I924I|TRPM2_ENST00000300482.5_Silent_p.I924I|TRPM2_ENST00000300481.9_Silent_p.I904I|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	924						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGCCCAAGATCATCATTGTGA	0.642000													25	109					0	0	0.000279167	0	0
OR52N1	79473	broad.mit.edu	37	11	5809489	5809489	+	Silent	SNP	C	C	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr11:5809489C>A	ENST00000317078.1	-	1	557	c.558G>T	c.(556-558)gtG>gtT	p.V186V	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATATCTTGGCCACAGACATGT	0.493000													22	23					5.26018e-13	2.36369e-11	0.000229342	1	0
CLMP	79827	broad.mit.edu	37	11	122953836	122953836	+	Silent	SNP	G	G	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr11:122953836G>A	ENST00000448775.2	-	5	976	c.636C>T	c.(634-636)aaC>aaT	p.N212N	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	212	Ig-like C2-type 2.					integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						TCCCAGCTTCGTTGCCTGCTG	0.453000													8	64					0	0	2.17888e-05	0	0
RP1	6101	broad.mit.edu	37	8	55540425	55540425	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr8:55540425C>A	ENST00000220676.1	+	4	4131	c.3983C>A	c.(3982-3984)cCa>cAa	p.P1328Q		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1328					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGAGCTTGCCCAATTGATGAG	0.403000													7	114					0.000157383	0.00626386	0.000157383	1	0
GRIN2B	2904	broad.mit.edu	37	12	13717349	13717349	+	Silent	SNP	G	G	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr12:13717349G>A	ENST00000279593.3	-	13	3032	c.2823C>T	c.(2821-2823)ttC>ttT	p.F941F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	941					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CAGAATGCGTGAAGCTGCGGC	0.557000													20	113					0	0	0.000229342	0	0
ZNF333	84449	broad.mit.edu	37	19	14806397	14806397	+	Silent	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr19:14806397C>T	ENST00000292530.6	+	4	238	c.147C>T	c.(145-147)ccC>ccT	p.P49P	ZNF333_ENST00000601629.1_3'UTR|ZNF333_ENST00000536363.1_5'UTR|ZNF333_ENST00000601134.1_Intron|ZNF333_ENST00000540689.2_Silent_p.P49P	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	49	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CATGCAAACCCAGTTGTGTCT	0.527000													11	29					0	0	6.40141e-05	0	0
RNASE3	6037	broad.mit.edu	37	14	21360234	21360234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr14:21360234G>A	ENST00000304639.3	+	2	447	c.389G>A	c.(388-390)gGa>gAa	p.G130E		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	130			G -> R (in dbSNP:rs12147890).		defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	GACAGACCAGGAAGGAGGTTC	0.478000													33	27					0	0	7.24521e-05	0	0
MGA	23269	broad.mit.edu	37	15	42041031	42041031	+	Silent	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr15:42041031C>T	ENST00000219905.7	+	16	5590	c.5409C>T	c.(5407-5409)caC>caT	p.H1803H	MGA_ENST00000566586.1_Silent_p.H1594H|MGA_ENST00000570161.1_Silent_p.H1803H|MGA_ENST00000389936.4_Silent_p.H1764H|MGA_ENST00000545763.1_Silent_p.H1594H	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1764						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)		TATTCAGGCACCCTAATGGGC	0.483000													14	60					0	0	0.000151284	0	0
HMGCS2	3158	broad.mit.edu	37	1	120307194	120307194	+	Missense_Mutation	SNP	C	C	T	rs28937320		TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr1:120307194C>T	ENST00000369406.3	-	2	209	c.160G>A	c.(160-162)Gtg>Atg	p.V54M	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Missense_Mutation_p.V54M	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	54			V -> M (in HMGCS deficiency; dbSNP:rs28937320).		acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		AGGATGCCCACGTCCTTTGGC	0.502000													57	263					0	0	0.000147903	0	0
OR6C4	341418	broad.mit.edu	37	12	55945074	55945074	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr12:55945074C>A	ENST00000394256.2	+	1	92	c.64C>A	c.(64-66)Caa>Aaa	p.Q22K	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						ACCTGAACTCCAAGTGATGAT	0.418000													18	87					3.32936e-07	1.41973e-05	7.07596e-05	1	0
TENM1	10178	broad.mit.edu	37	X	123519727	123519727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chrX:123519727C>T	ENST00000422452.2	-	29	5939	c.5876G>A	c.(5875-5877)cGa>cAa	p.R1959Q	TENM1_ENST00000371130.3_Missense_Mutation_p.R1952Q|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TCGGCCATCTCGACTATAGTC	0.498000													44	27					0	0	0.000106405	0	0
ZNF99	7652	broad.mit.edu	37	19	22939264	22939264	+	Silent	SNP	C	C	T	rs74170734		TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr19:22939264C>T	ENST00000397104.3	-	7	2906	c.2907G>A	c.(2905-2907)aaG>aaA	p.K969K						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTAGGGTTTCTTTCCAGTAT	0.368000													13	18					0	0	0.00010058	0	0
MGAM	8972	broad.mit.edu	37	7	141799419	141799419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr7:141799419G>A	ENST00000475668.2	+	67	7810	c.7756G>A	c.(7756-7758)Gat>Aat	p.D2586N	MGAM_ENST00000549489.2_Missense_Mutation_p.D1690N			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1690					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCAGGGTGTGGATATTAATGC	0.537000													51	52					0	0	0.000147903	0	0
COL5A2	1290	broad.mit.edu	37	2	189904130	189904130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr2:189904130C>T	ENST00000374866.3	-	51	4067	c.3793G>A	c.(3793-3795)Gac>Aac	p.D1265N		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1265					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACCCCTGGGTCCGTTTTGTTT	0.517000													20	34					0	0	9.7654e-05	0	0
TNC	3371	broad.mit.edu	37	9	117846627	117846627	+	Silent	SNP	C	C	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr9:117846627C>A	ENST00000350763.4	-	4	2403	c.1992G>T	c.(1990-1992)ctG>ctT	p.L664L	TNC_ENST00000346706.3_Silent_p.L664L|TNC_ENST00000345230.3_Silent_p.L664L|TNC_ENST00000423613.2_Silent_p.L664L|TNC_ENST00000535648.1_Silent_p.L664L|TNC_ENST00000537320.1_Silent_p.L664L|TNC_ENST00000341037.4_Silent_p.L664L|TNC_ENST00000340094.3_Silent_p.L664L|TNC_ENST00000542877.1_Silent_p.L664L	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	664	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACTGCATTTCCAGACCACCCT	0.567000													6	33					2.7689e-08	1.19291e-06	8.12818e-05	1	0
SETD1A	9739	broad.mit.edu	37	16	30975994	30975994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr16:30975994C>T	ENST00000262519.8	+	7	1617	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	311	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TGCCTTTTCCCGCCGCCACTT	0.602000													16	93					0	0	5.01169e-05	0	0
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	AGCGGCAGG	-			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr1:1850628_1850636delAGCGGCAGG	ENST00000310991.3	-	1	76_84	c.69_77delCCTGCCGCT	c.(67-78)ctg>ct	p.LLPL23del		NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	23						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.766													5	5	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145116147	145116148	+	RNA	INS	-	-	A	rs138980379		TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr1:145116147_145116148insA	ENST00000453618.1	+	0	1233_1234							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										AGTAGATTGTTATTTCGTTTTT	0.416													3	3	---	---	---	---					
RP11-404F10.2	0	broad.mit.edu	37	1	160640798	160640798	+	RNA	DEL	T	T	-			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr1:160640798delT	ENST00000598917.1	+	0	231																											TTCTGAACAATTTTTTTTTTA	0.428													2	4	---	---	---	---					
PPARGC1B	133522	broad.mit.edu	37	5	149216400	149216402	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr5:149216400_149216402delCAG	ENST00000309241.5	+	8	2414_2416	c.2382_2384delCAG	c.(2380-2385)gac>ga	p.DS794del	PPARGC1B_ENST00000394320.3_In_Frame_Del_p.DS794del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.DS755del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.DS730del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	794	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	p.S795N(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCTTTGAAGACAGCAGCAGCAGC	0.601													7	127	---	---	---	---					
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TCAATTGTTCGTGTGTGTGTGT	0.356													7	170	---	---	---	---					
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)agc>a	p.TS290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537													8	167	---	---	---	---					
CPD	1362	broad.mit.edu	37	17	28769357	28769358	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr17:28769357_28769358delAA	ENST00000225719.4	+	10	2338_2339	c.2262_2263delAA	c.(2260-2265)acatfs	p.TN754fs	CPD_ENST00000543464.2_Frame_Shift_Del_p.TN507fs	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	754	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						ATTTACAAACAAATTGCTTTGA	0.361													23	119	---	---	---	---					
RBMY2EP	159125	broad.mit.edu	37	Y	23563322	23563323	+	RNA	DEL	AC	AC	-			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chrY:23563322_23563323delAC	ENST00000444169.1	-	0	86					NR_001574.2																						ATATGAAAATacacacacacac	0.302													3	5	---	---	---	---