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
KCNK13	56659	broad.mit.edu	37	14	90651311	90651311	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:90651311G>A	ENST00000282146.4	+	2	1632	c.1191G>A	c.(1189-1191)atG>atA	p.M397I		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	397						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TTGCAATCATGAACAACAGGT	0.592000													13	21					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33517487	33517487	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:33517487G>A	ENST00000254260.3	-	3	272	c.237C>T	c.(235-237)ttC>ttT	p.F79F	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	79					signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CTGAGTTGACGAAGCTCAGCT	0.562000													51	72					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542513	179542513	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:179542513C>T	ENST00000589042.1	-	146	34350	c.34126G>A	c.(34126-34128)Gaa>Aaa	p.E11376K	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11059K|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10132K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11059	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTAGAACTTCCTCTTCCTCA	0.438000													47	80					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71389811	71389811	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:71389811C>T	ENST00000392650.3	-	27	3786	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	SDK2_ENST00000388726.3_Silent_p.Q1262Q	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1262	Fibronectin type-III 7.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGCCGGTGAGCTGGGCACTGC	0.627000													25	35					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50534545	50534545	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:50534545A>G	ENST00000267845.3	-	12	2303	c.1901T>C	c.(1900-1902)aTc>aCc	p.I634T	HDC_ENST00000543581.1_Missense_Mutation_p.I601T	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	634					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GTAGAATTTGATGAGTTTTTT	0.507000													63	109					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807720	20807720	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:20807720G>A	ENST00000601440.1	-	4	1109	c.963C>T	c.(961-963)gcC>gcT	p.A321A	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AGTACTTAAAGGCTTTGTCAC	0.378000													38	59					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502223	140502223	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:140502223G>A	ENST00000194152.1	+	1	643	c.643G>A	c.(643-645)Gat>Aat	p.D215N		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		215	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGGCGCTGGATGGTGGGTC	0.517000													39	81					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54964031	54964031	+	Missense_Mutation	SNP	G	G	A	rs112699956		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:54964031G>A	ENST00000243052.3	+	6	920	c.484G>A	c.(484-486)Gat>Aat	p.D162N	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.D142N|PDE1B_ENST00000538346.1_Missense_Mutation_p.D121N	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	162					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						ATAGAACCTGGATCTCTGGTG	0.458000													22	47					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79361262	79361262	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:79361262G>A	ENST00000350881.2	+	9	1346	c.1156G>A	c.(1156-1158)Gga>Aga	p.G386R	THBS4_ENST00000511733.1_Missense_Mutation_p.G295R|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	386	EGF-like 3; calcium-binding (Potential).				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGTCGAAATGGAGCGTGCGT	0.388000													26	71					0	0	1	0	0
HSPD1	3329	broad.mit.edu	37	2	198355012	198355012	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:198355012A>G	ENST00000388968.3	-	8	1145	c.878T>C	c.(877-879)gTt>gCt	p.V293A	HSPD1_ENST00000345042.2_Missense_Mutation_p.V293A	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	293					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CTGAAGACCAACCTTTAGCCT	0.383000													16	44					0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14749103	14749103	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:14749103G>A	ENST00000253673.5	-	11	1398	c.1298C>T	c.(1297-1299)gCc>gTc	p.A433V	EMR3_ENST00000344373.4_Missense_Mutation_p.A381V|EMR3_ENST00000443157.2_Missense_Mutation_p.A307V|EMR3_ENST00000599900.1_Missense_Mutation_p.A218V	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	433					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CCAGGTGAAGGCGGCCAGGTA	0.562000													16	56					0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104190802	104190802	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:104190802C>T	ENST00000374855.4	-	4	452	c.328G>A	c.(328-330)Gac>Aac	p.D110N	ALDOB_ENST00000468981.2_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	110					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				CCTCCTTGGTCTAACTGTGGA	0.403000													42	69					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128659	152128659	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:152128659G>A	ENST00000316073.3	-	3	980	c.916C>T	c.(916-918)Cat>Tat	p.H306Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	306	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGACCATAATGATAACTCTGG	0.522000													401	1654					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168849246	168849246	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:168849246G>A	ENST00000464456.1	-	3	1220	c.20C>T	c.(19-21)cCc>cTc	p.P7L	MECOM_ENST00000433243.2_Missense_Mutation_p.P7L|MECOM_ENST00000392736.3_Missense_Mutation_p.P7L|MECOM_ENST00000264674.3_Missense_Mutation_p.P71L|MECOM_ENST00000494292.1_Missense_Mutation_p.P195L|MECOM_ENST00000472280.1_Missense_Mutation_p.P7L|MECOM_ENST00000468789.1_Missense_Mutation_p.P7L|MECOM_ENST00000460814.1_Missense_Mutation_p.P7L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity	p.P7>?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGTTTCATGGGGATAGTCTTC	0.463000													19	32					0	0	1	0	0
SLC25A10	1468	broad.mit.edu	37	17	79686870	79686870	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:79686870C>T	ENST00000331531.5	+	10	862	c.742C>T	c.(742-744)Cac>Tac	p.H248Y	SLC25A10_ENST00000350690.5_Missense_Mutation_p.H239Y|SLC25A10_ENST00000571730.1_Missense_Mutation_p.H394Y|SLC25A10_ENST00000541223.1_Missense_Mutation_p.H394Y|SLC25A10_ENST00000545862.1_Missense_Mutation_p.H196Y	NM_001270888.1	NP_001257817.1	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	239					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	GGGCGTTTTCCACTGCGCCGT	0.612000													111	235					0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151773552	151773552	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:151773552G>A	ENST00000368820.3	-	2	2566	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	543						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGAGGTGAGGAAGGGGAGGA	0.567000													59	460					0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43347890	43347890	+	RNA	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:43347890G>A	ENST00000344686.2	-	0	1967							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGGGGCGCAGGAGGGTGGGAT	0.642000													10	18					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924640	188924640	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:188924640G>A	ENST00000326866.4	+	4	1087	c.679G>A	c.(679-681)Gtt>Att	p.V227I	ZFP42_ENST00000509524.1_Missense_Mutation_p.V227I	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	227					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAAGCGTTCGTTGAGAGCTC	0.502000													37	47					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803485	185803485	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:185803485C>T	ENST00000302277.6	+	4	3956	c.3362C>T	c.(3361-3363)aCc>aTc	p.T1121I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1121						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						gctgcagGAACCTTTAAAGTG	0.527000													36	61					0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060344	16060344	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:16060344A>C	ENST00000322107.1	+	1	527	c.527A>C	c.(526-528)cAc>cCc	p.H176P		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						AATGTGATCCACCATTTTTTC	0.498000													42	118					0	0	1	0	0
GBP2	2634	broad.mit.edu	37	1	89579900	89579900	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:89579900G>A	ENST00000370466.3	-	7	1216	c.948C>T	c.(946-948)gcC>gcT	p.A316A	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	316					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TCTGGGCCAAGGCCAGGACTG	0.547000													36	48					0	0	1	0	0
ZNF732	654254	broad.mit.edu	37	4	266289	266289	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:266289C>T	ENST00000419098.1	-	4	367	c.357G>A	c.(355-357)agG>agA	p.R119R		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						TCTGCACCTTCCTTTTACAGC	0.328000													5	11					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31537312	31537312	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr18:31537312A>C	ENST00000261592.5	-	8	1703	c.1406T>G	c.(1405-1407)aTg>aGg	p.M469R	NOL4_ENST00000535384.1_Missense_Mutation_p.M184R|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535475.1_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.M395R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	469						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ACTTCTTTTCATCCGCCTGCA	0.423000													18	48					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103496791	103496791	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:103496791G>A	ENST00000358392.2	-	5	978	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q221*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q221*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.Q221*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	221	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.Q221K(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AAAAACTGCTGAATGTCCCCC	0.403000													9	24					0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33368105	33368105	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr21:33368105A>T	ENST00000270112.2	+	10	1690	c.1330A>T	c.(1330-1332)Aaa>Taa	p.K444*	HUNK_ENST00000465574.1_3'UTR	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	444					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						AGAACAAGAAAAAAGAGGGGA	0.418000													27	85					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21121299	21121299	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr18:21121299G>A	ENST00000269228.5	-	15	2898	c.2344C>T	c.(2344-2346)Ctc>Ttc	p.L782F	NPC1_ENST00000412552.2_Missense_Mutation_p.L464F|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	782	SSD.				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AACCCCAAGAGACTCACGAAA	0.453000													24	68					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63269214	63269214	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:63269214C>T	ENST00000322893.7	-	9	1923	c.1655G>A	c.(1654-1656)cGa>cAa	p.R552Q	KCNH5_ENST00000420622.2_Missense_Mutation_p.R552Q|KCNH5_ENST00000394968.1_Missense_Mutation_p.R494Q	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	552					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCTGGCCAATCGAAAAGCAGG	0.498000													27	74					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230372422	230372422	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:230372422C>T	ENST00000366672.4	+	6	630	c.558C>T	c.(556-558)ctC>ctT	p.L186L	GALNT2_ENST00000541865.1_Silent_p.L96L|GALNT2_ENST00000543760.1_Silent_p.L148L	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	186	Catalytic subdomain A.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ACGGGGCTCTCTTGGGGAAAA	0.408000													32	61					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430723	37430723	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:37430723G>A	ENST00000374660.1	+	7	829	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E244K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E244K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	300						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.E244K(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGCTTGGTGGAAAAAACACC	0.507000													15	44					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138264082	138264082	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:138264082C>T	ENST00000343526.4	+	15	2605	c.2390C>T	c.(2389-2391)tCc>tTc	p.S797F	TRIM24_ENST00000415680.2_Missense_Mutation_p.S763F			O15164	TIF1A_HUMAN	tripartite motif containing 24	797					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CAGGACAATTCCTCAAATGGA	0.473000													55	124					0	0	1	0	0
MPV17L	255027	broad.mit.edu	37	16	15501843	15501843	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr16:15501843C>T	ENST00000287594.6	+	3	538	c.394C>T	c.(394-396)Ctg>Ttg	p.L132L	RP11-1021N1.1_ENST00000568222.1_Intron|MPV17L_ENST00000396385.3_Silent_p.V155V	NM_173803.3	NP_776164.2	Q2QL34	MP17L_HUMAN	MPV17 mitochondrial membrane protein-like	0						integral to membrane|peroxisomal membrane				kidney(2)|large_intestine(1)|skin(1)	4						ACGCTGGAGTCTGTGGTTTTC	0.498000													14	31					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158300698	158300698	+	Silent	SNP	A	A	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:158300698A>G	ENST00000368168.3	-	2	323	c.216T>C	c.(214-216)tcT>tcC	p.S72S		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	72					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AGTTACCTTTAGACCAAGGCT	0.473000													65	362					0	0	1	0	0
CRLF1	9244	broad.mit.edu	37	19	18710534	18710534	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:18710534C>T	ENST00000392386.3	-	2	431	c.238G>A	c.(238-240)Ggg>Agg	p.G80R		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	80	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGGCGGCGCCCGTTGAGGGTC	0.682000													5	7					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110030288	110030288	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:110030288C>T	ENST00000369870.3	+	5	577	c.562C>T	c.(562-564)Cct>Tct	p.P188S		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	188										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CATGGCTCCCCCTTCTAAAGA	0.602000													46	84					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204045234	204045234	+	Splice_Site	SNP	T	T	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:204045234T>G	ENST00000449802.1	+	42	6840	c.6508_splice	c.e42+1	p.N2169_splice		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2169	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AAAATCAAAATCGTAAGAAAT	0.338000													13	25					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212488718	212488718	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:212488718G>A	ENST00000342788.4	-	18	2441	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C	ERBB4_ENST00000402597.1_Missense_Mutation_p.R701C|ERBB4_ENST00000436443.1_Missense_Mutation_p.R711C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	711					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.R711C(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTCAAAATACGAAGTTGAGCT	0.423000										TSP Lung(8;0.080)			16	39					0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062219	76062219	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:76062219G>A	ENST00000260045.3	-	5	2080	c.1975C>T	c.(1975-1977)Ccg>Tcg	p.P659S		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	659					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						ATGGTGGACGGAAGCTCTATA	0.448000													60	87					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													6	26					0.217242	0.217242	1	1	0
GDF3	9573	broad.mit.edu	37	12	7843299	7843299	+	Splice_Site	SNP	A	A	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:7843299A>G	ENST00000329913.3	-	2	317	c.268_splice	c.e2-1	p.G90_splice		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	90					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AAAGAAAGAAACCTAGATGGG	0.388000													24	30					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641459	179641459	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:179641459G>A	ENST00000589042.1	-	28	5356	c.5132C>T	c.(5131-5133)tCc>tTc	p.S1711F	TTN_ENST00000591111.1_Missense_Mutation_p.S1711F|TTN_ENST00000342175.6_Missense_Mutation_p.S1665F|TTN_ENST00000359218.5_Missense_Mutation_p.S1665F|TTN_ENST00000342992.6_Missense_Mutation_p.S1711F|TTN_ENST00000360870.5_Missense_Mutation_p.S1711F|TTN_ENST00000460472.2_Missense_Mutation_p.S1665F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1465	Ig-like 8.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTCTTAAGGAAGTGAGTTT	0.473000													14	34					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78547326	78547326	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:78547326A>C	ENST00000545128.1	+	2	762	c.224A>C	c.(223-225)tAc>tCc	p.Y75S	PCSK5_ENST00000376752.4_Missense_Mutation_p.Y75S|PCSK5_ENST00000376767.3_Missense_Mutation_p.Y75S	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	75					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TACCACTTCTACCATAGCAGG	0.448000													13	44					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919887	12919887	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:12919887G>T	ENST00000240189.2	+	3	714	c.627G>T	c.(625-627)gaG>gaT	p.E209D		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	209										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTATTGGGGAGCTGGAAATTC	0.383000													77	161					9.12251e-31	9.35099e-31	1	1	0
ARNT	405	broad.mit.edu	37	1	150789286	150789286	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:150789286G>A	ENST00000358595.5	-	18	1980	c.1780C>T	c.(1780-1782)Ccc>Tcc	p.P594S	ARNT_ENST00000354396.2_Missense_Mutation_p.P594S|ARNT_ENST00000515192.1_Missense_Mutation_p.P580S|ARNT_ENST00000505755.1_Missense_Mutation_p.P579S	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	594					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCCGGCCGGGGGGTAGGAGGG	0.527000			T	ETV6	AML								27	105					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129520822	129520822	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:129520822T>C	ENST00000305031.4	+	3	2345	c.1987T>C	c.(1987-1989)Tct>Cct	p.S663P		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	663						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAGTAGGGATTCTGGCCAAGA	0.408000													38	68					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43596108	43596108	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:43596108C>T	ENST00000355710.3	+	2	507	c.275C>T	c.(274-276)aCc>aTc	p.T92I	RET_ENST00000340058.5_Missense_Mutation_p.T92I	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	92					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CAGGAGGACACCGGCCTCCTC	0.647000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				12	17					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22375890	22375890	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:22375890G>A	ENST00000397121.2	-	2	375	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L20M(1)		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)				AAAATGATCAGGTCTGGCTTA	0.403000													29	54					0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231993	7231993	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr18:7231993G>A	ENST00000383467.2	+	1	871	c.857G>A	c.(856-858)gGg>gAg	p.G286E		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	286										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTGGTGGAGGGGGGCCTGGAG	0.582000													64	151					0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91358079	91358079	+	Missense_Mutation	SNP	C	C	T	rs138857092		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:91358079C>T	ENST00000261172.3	-	7	915	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	275					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.E275K(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						AACGTATCTTCGTGCATTTCC	0.338000													16	36					0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723511	48723511	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:48723511G>A	ENST00000335017.1	+	1	749	c.437G>A	c.(436-438)aGg>aAg	p.R146K		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	146	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GCTCCCTGGAGGACCCCAGCC	0.716000													5	12					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226516259	226516259	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:226516259C>T	ENST00000272907.6	+	6	2353	c.1940C>T	c.(1939-1941)tCa>tTa	p.S647L		NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	647																	CAGGTACCATCATCGTTAGCC	0.512000													90	128					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175273	51175273	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr16:51175273G>A	ENST00000440970.1	-	2	1000	c.569C>T	c.(568-570)tCc>tTc	p.S190F	SALL1_ENST00000251020.4_Missense_Mutation_p.S287F|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	287					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGATAAATGGGAACTTAGCGT	0.507000													28	40					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24788604	24788604	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:24788604G>A	ENST00000310677.4	-	23	2885	c.2772C>T	c.(2770-2772)atC>atT	p.I924I	ADCY4_ENST00000418030.2_Silent_p.I924I|ADCY4_ENST00000554068.2_Silent_p.I924I	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	924					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CGATGGTCTTGATCTTCTCCA	0.532000													29	61					0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16170454	16170454	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:16170454C>T	ENST00000380289.2	+	3	1239	c.841C>T	c.(841-843)Cat>Tat	p.H281Y		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	281					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GCTCCCCAATCATGTCATCTA	0.547000													72	32					0	0	1	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179816679	179816679	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:179816679A>C	ENST00000367612.3	-	5	1033	c.646T>G	c.(646-648)Tgg>Ggg	p.W216G		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	216						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						CCATAGCTCCAAAAACCCTTT	0.378000													23	49					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826592	43826592	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:43826592C>T	ENST00000389420.3	-	20	2742	c.2743G>A	c.(2743-2745)Gaa>Aaa	p.E915K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E915K|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.E69K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	915	TSP type-1 3.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GATGAACATTCACTTTTGCCA	0.363000													40	63					0	0	1	0	0
NADK	65220	broad.mit.edu	37	1	1686903	1686903	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:1686903G>A	ENST00000344463.4	-	9	1254	c.1033C>T	c.(1033-1035)Ccg>Tcg	p.P345S	NADK_ENST00000341991.3_Missense_Mutation_p.P200S|NADK_ENST00000342348.5_Missense_Mutation_p.P168S|NADK_ENST00000341426.5_Missense_Mutation_p.P200S|NADK_ENST00000378625.1_Missense_Mutation_p.P345S			O95544	NADK_HUMAN	NAD kinase	200					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	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;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GCCATGACCGGAGGGACGCTG	0.622000													48	106					0	0	1	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177323	89177323	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:89177323A>C	ENST00000561129.2	+	1	369	c.239A>C	c.(238-240)gAa>gCa	p.E80A	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.E80A			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	80						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TACCCTTCAGAAGAAGAGAAG	0.473000													65	25					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214209143	214209143	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:214209143C>T	ENST00000366958.4	+	5	2788	c.2180C>T	c.(2179-2181)tCc>tTc	p.S727F	PROX1_ENST00000435016.1_Missense_Mutation_p.S727F|PROX1_ENST00000498508.2_Missense_Mutation_p.S727F|PROX1_ENST00000261454.4_Missense_Mutation_p.S727F	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	727	Prospero-like.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		ATTTTCAAATCCCCGAACTGC	0.423000													55	31					0	0	1	0	0
FZD9	8326	broad.mit.edu	37	7	72848928	72848928	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:72848928G>A	ENST00000344575.3	+	1	820	c.591G>A	c.(589-591)gaG>gaA	p.E197E		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	197					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCACCTGCGAGAACCCCGAGA	0.751000													12	10					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74475553	74475553	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:74475553C>T	ENST00000394019.2	-	18	2111	c.1714G>A	c.(1714-1716)Gga>Aga	p.G572R	SLC4A5_ENST00000357822.5_Missense_Mutation_p.G572R|SLC4A5_ENST00000377632.1_Missense_Mutation_p.G572R|SLC4A5_ENST00000377634.4_Missense_Mutation_p.G572R|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G508R|SLC4A5_ENST00000358683.4_Missense_Mutation_p.G508R|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G572R|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.G572R	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	572						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGAGGCTGTCCCGAGAAGAGG	0.577000													4	34					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764958	92764958	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:92764958C>T	ENST00000318238.4	-	5	1543	c.327G>A	c.(325-327)aaG>aaA	p.K109K	SAMD9L_ENST00000411955.1_Silent_p.K109K|SAMD9L_ENST00000437805.1_Silent_p.K109K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	109										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTCTTCTTCCTTTTTGGTGT	0.333000													54	107					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154808	22154808	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:22154808A>G	ENST00000397126.4	-	4	3176	c.3028T>C	c.(3028-3030)Ttc>Ctc	p.F1010L	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)				GACCAGTTGAAAGCTTTGCCA	0.398000													25	58					0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196928040	196928040	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:196928040G>A	ENST00000367415.4	+	5	757	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	CFHR2_ENST00000367421.3_Missense_Mutation_p.E215K|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	215	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AGAAATTATGGAAAAATATAA	0.284000													15	121					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428151	10428151	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:10428151C>T	ENST00000245503.5	-	34	5278	c.4894G>A	c.(4894-4896)Gaa>Aaa	p.E1632K	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1632K|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1632					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGCTGGATTTCCATTTCATTG	0.507000													58	57					0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5067968	5067968	+	Silent	SNP	T	T	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:5067968T>A	ENST00000380370.1	+	1	213	c.213T>A	c.(211-213)atT>atA	p.I71I		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTCCACTATTGATTTGGCCC	0.493000													12	48					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107083118	107083118	+	Silent	SNP	T	T	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:107083118T>C	ENST00000392842.1	+	7	1059	c.645T>C	c.(643-645)acT>acC	p.T215T	RFX4_ENST00000229387.5_Silent_p.T121T|RFX4_ENST00000357881.4_Silent_p.T224T|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	215					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TACTGGACACTGTAATAAGAG	0.393000													19	79					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76382001	76382001	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr13:76382001G>A	ENST00000357063.3	+	11	2998	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K	LMO7_ENST00000321797.8_Missense_Mutation_p.E295K|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000377534.3_Missense_Mutation_p.E580K|LMO7_ENST00000465261.2_Missense_Mutation_p.E295K|LMO7_ENST00000526202.1_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	580						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ACAGAAGAAAGAAGTGCCGCT	0.448000													20	97					0	0	1	0	0
POLI	11201	broad.mit.edu	37	18	51820709	51820709	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr18:51820709G>C	ENST00000579534.1	+	10	2238	c.2095G>C	c.(2095-2097)Gat>Cat	p.D699H	POLI_ENST00000406285.3_Missense_Mutation_p.D620H|POLI_ENST00000579434.1_Missense_Mutation_p.D596H|POLI_ENST00000217800.5_Missense_Mutation_p.D573H	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	699					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AGATTCTGTTGATGAGAAAAT	0.418000								DNA polymerases (catalytic subunits)					12	74					0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1562489	1562489	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:1562489C>G	ENST00000357210.4	+	11	1666	c.1450C>G	c.(1450-1452)Cag>Gag	p.Q484E	MIB2_ENST00000360522.4_Missense_Mutation_p.Q449E|MIB2_ENST00000355826.5_Missense_Mutation_p.Q527E|MIB2_ENST00000504599.1_Missense_Mutation_p.Q440E|MIB2_ENST00000378708.1_Missense_Mutation_p.Q390E|MIB2_ENST00000518681.1_Missense_Mutation_p.Q476E|MIB2_ENST00000378712.1_Missense_Mutation_p.Q361E|MIB2_ENST00000520777.1_Missense_Mutation_p.Q537E|MIB2_ENST00000378710.3_Missense_Mutation_p.Q448E|MIB2_ENST00000505820.2_Missense_Mutation_p.Q541E	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	484					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	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)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCTTCGGGCCCAGAAGAGTGA	0.706000													3	13					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38163216	38163216	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:38163216G>A	ENST00000308059.6	+	35	4985	c.4964G>A	c.(4963-4965)cGg>cAg	p.R1655Q	DLEC1_ENST00000452631.2_Missense_Mutation_p.R1658Q|DLEC1_ENST00000346219.3_Missense_Mutation_p.R1655Q			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1655					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CAGCGAGTCCGGGAGGTCTAC	0.632000													14	37					0	0	1	0	0
CXCL5	6374	broad.mit.edu	37	4	74863796	74863796	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:74863796C>T	ENST00000296027.4	-	3	456	c.259G>A	c.(259-261)Ggg>Agg	p.G87R		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	87					cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			ATTTCCTTCCCGTTCTTCAGG	0.433000													28	25					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908219	164908219	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:164908219C>T	ENST00000475390.1	-	2	843	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	SLITRK3_ENST00000241274.3_Missense_Mutation_p.E134K			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	134						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AGTTTGTTTTCATGTAGATAT	0.368000										HNSCC(40;0.11)			21	41					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34164422	34164422	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:34164422C>T	ENST00000373381.4	-	24	4032	c.3856G>A	c.(3856-3858)Ggt>Agt	p.G1286S	CSMD2_ENST00000373380.1_Missense_Mutation_p.G159S|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1246	CUB 8.					integral to membrane|plasma membrane	protein binding	p.G1246S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCTCACTACCCCGCAGGCTG	0.607000													18	61					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179467009	179467009	+	Splice_Site	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:179467009C>T	ENST00000589042.1	-	283	55344	c.55120_splice	c.e283+1	p.E18374_splice	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Splice_Site_p.E16733_splice|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Splice_Site_p.E9501_splice|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.E9434_splice|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.E15806_splice|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Splice_Site_p.E9309_splice	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16733	Fibronectin type-III 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACTAGTACCTTGAATATCA	0.353000													20	43					0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986578	51986578	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:51986578C>T	ENST00000451626.1	+	5	1164	c.1164C>T	c.(1162-1164)tgC>tgT	p.C388C	CEACAM18_ENST00000396477.4_Intron			A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	388						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGGCTCATGCTTTGCACATC	0.592000													21	25					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26502153	26502153	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:26502153C>T	ENST00000244513.6	+	2	481	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	139						extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CCTGGTGCATCTGAAGGTGGC	0.532000													11	38					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350643	100350643	+	RNA	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:100350643C>T	ENST00000542585.1	+	0	3063				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCACCATCCCCACGGAAAAA	0.532000													82	150					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43508618	43508618	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:43508618G>A	ENST00000395891.1	+	16	3618	c.3013G>A	c.(3013-3015)Gac>Aac	p.D1005N	HECW1_ENST00000453890.1_Missense_Mutation_p.D971N	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1005					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCACAACCGGGACTTGGTGAA	0.537000													69	83					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39247098	39247098	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:39247098G>A	ENST00000518318.2	+	4	432	c.390G>A	c.(388-390)caG>caA	p.Q130Q	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Silent_p.Q130Q|POU6F2_ENST00000559001.1_Silent_p.Q122Q			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	130					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TGGCGGGACAGCTAGGAGGCC	0.607000													45	134					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43575909	43575909	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:43575909C>A	ENST00000406487.1	-	4	1005	c.907G>T	c.(907-909)Gtt>Ttt	p.V303F		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	303	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GAGTTACGAACAGAGCAAACA	0.453000													102	152					4.82855e-46	4.95835e-46	1	1	0
ASTL	431705	broad.mit.edu	37	2	96799182	96799182	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:96799182G>A	ENST00000342380.2	-	5	436	c.437C>T	c.(436-438)tCc>tTc	p.S146F		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	146					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GGGGATGATGGAAATGAAGTC	0.527000													36	61					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915142	39915142	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:39915142C>T	ENST00000425673.1	+	17	3607	c.3282C>T	c.(3280-3282)atC>atT	p.I1094I	PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Silent_p.I1064I|PLEKHG2_ENST00000409794.3_Silent_p.I1123I|PLEKHG2_ENST00000378550.1_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1123	Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCATCGGATCCCAGCCAACG	0.592000													23	68					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70926736	70926736	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:70926736C>T	ENST00000357250.6	-	38	2788	c.2630G>A	c.(2629-2631)cGa>cAa	p.R877Q	COL9A1_ENST00000370499.4_Missense_Mutation_p.R634Q|COL9A1_ENST00000320755.7_Missense_Mutation_p.R634Q|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	877	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGGGGGGCCTCGCTCACCGTC	0.607000													20	12					0	0	1	0	0
C12orf54	121273	broad.mit.edu	37	12	48884616	48884616	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:48884616C>T	ENST00000314014.2	+	6	321	c.190C>T	c.(190-192)Cga>Tga	p.R64*	C12orf54_ENST00000548364.1_Nonsense_Mutation_p.R64*|RP11-722P11.4_ENST00000551847.1_RNA	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	64										endometrium(1)|large_intestine(4)	5						TGCTCGGATTCGAGGTAAAAC	0.433000													46	64					0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42800254	42800254	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:42800254C>T	ENST00000315005.3	+	3	227	c.89C>T	c.(88-90)tCc>tTc	p.S30F	DBF4B_ENST00000398338.3_Missense_Mutation_p.S30F|DBF4B_ENST00000526915.1_3'UTR|DBF4B_ENST00000393547.2_Missense_Mutation_p.S30F	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	30					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CTAGGAGTTTCCAGGTGTCTA	0.468000													31	74					0	0	1	0	0
TMEM208	29100	broad.mit.edu	37	16	67262476	67262476	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr16:67262476G>A	ENST00000563953.1	+	4	457	c.31G>A	c.(31-33)Gag>Aag	p.E11K	TMEM208_ENST00000565201.1_Missense_Mutation_p.E81K|TMEM208_ENST00000563426.1_3'UTR|TMEM208_ENST00000304800.9_Missense_Mutation_p.E81K			Q9BTX3	TM208_HUMAN	transmembrane protein 208	81						integral to membrane				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		AGCGTTCTCTGAGGATGGGGC	0.617000													6	12					0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61924338	61924338	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:61924338C>T	ENST00000332981.5	+	9	1604	c.1219C>T	c.(1219-1221)Ctg>Ttg	p.L407L	PRKCH_ENST00000555082.1_Silent_p.L246L	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	407	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GAAAAGGATCCTGTCTCTGGC	0.488000													78	149					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154744645	154744645	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:154744645G>A	ENST00000271915.3	-	3	1569	c.1254C>T	c.(1252-1254)atC>atT	p.I418I	KCNN3_ENST00000358505.2_Silent_p.I105I|KCNN3_ENST00000361147.4_Silent_p.I113I	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	423						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TGACTCGGGCGATCAGGTACA	0.602000													23	109					0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35705811	35705811	+	Silent	SNP	A	A	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:35705811A>G	ENST00000373866.3	+	2	193	c.171A>G	c.(169-171)gcA>gcG	p.A57A	ARMC12_ENST00000288065.2_Silent_p.A84A|ARMC12_ENST00000373869.3_Silent_p.A57A			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	57							binding										TAGGCCTGGCAGTCGAGCGAG	0.592000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	57					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12976590	12976590	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:12976590T>C	ENST00000251472.4	+	16	1903	c.1864T>C	c.(1864-1866)Tcc>Ccc	p.S622P		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	622	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACTCCTCATATCCAGCCTCCT	0.577000													14	44					0	0	1	0	0
UPP2	151531	broad.mit.edu	37	2	158962636	158962636	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:158962636C>T	ENST00000605860.1	+	5	305	c.259C>T	c.(259-261)Cct>Tct	p.P87S	UPP2_ENST00000409859.4_Missense_Mutation_p.P87S|UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000005756.4_Missense_Mutation_p.P30S			O95045	UPP2_HUMAN	uridine phosphorylase 2	30					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						CGTTAAAAATCCTTACTTGGA	0.318000													8	15					0	0	1	0	0
SDHAF2	54949	broad.mit.edu	37	11	61205222	61205222	+	Silent	SNP	A	A	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:61205222A>G	ENST00000301761.2	+	2	236	c.162A>G	c.(160-162)ccA>ccG	p.P54P	SDHAF2_ENST00000537782.1_Silent_p.P54P|SDHAF2_ENST00000542074.1_Intron|RP11-286N22.8_ENST00000544880.1_3'UTR|SDHAF2_ENST00000543265.1_Silent_p.P54P|RP11-286N22.8_ENST00000543044.1_Silent_p.P42P|SDHAF2_ENST00000534878.1_Silent_p.P54P	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2	54					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						CTTTGCCTCCATGGCAGGAGA	0.458000													29	122					0	0	1	0	0
ATP1B2	482	broad.mit.edu	37	17	7557429	7557429	+	Missense_Mutation	SNP	G	G	A	rs139562417		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:7557429G>A	ENST00000250111.4	+	4	813	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	136					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)|p.E136K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		ACGCTATTACGAACAGCCAGA	0.552000													103	63					0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56735006	56735006	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:56735006C>T	ENST00000587340.1	-	5	1277	c.582G>A	c.(580-582)agG>agA	p.R194R	ZSCAN5A_ENST00000391713.1_Silent_p.R194R|ZSCAN5A_ENST00000587492.1_Silent_p.R48R|ZSCAN5A_ENST00000592355.1_Silent_p.R194R|ZSCAN5A_ENST00000254165.3_Silent_p.R77R			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	194					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCACCTGCCTCCTGGACAATG	0.612000													11	25					0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922930	17922930	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:17922930G>A	ENST00000318683.6	+	3	1265	c.1118G>A	c.(1117-1119)tGa>tAa	p.*373*	B3GNT3_ENST00000595387.1_Silent_p.*373*	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	0					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CAGATCTACTGAGTCAGCATC	0.572000													34	20					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213921659	213921659	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:213921659C>T	ENST00000457361.1	-	4	472	c.304G>A	c.(304-306)Gag>Aag	p.E102K	IKZF2_ENST00000374319.4_Missense_Mutation_p.E102K|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000421754.2_Missense_Mutation_p.E102K|IKZF2_ENST00000413091.3_Missense_Mutation_p.E102K|IKZF2_ENST00000451136.2_Missense_Mutation_p.E102K|IKZF2_ENST00000434687.1_Missense_Mutation_p.E102K|IKZF2_ENST00000342002.2_Missense_Mutation_p.E108K	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		ATTCCTCCCTCGCCTTGAAGC	0.512000													31	49					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	54025254	54025254	+	Silent	SNP	C	C	T	rs148643501	byFrequency	TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:54025254C>T	ENST00000396328.1	-	2	332	c.93G>A	c.(91-93)acG>acA	p.T31T	WDR72_ENST00000559418.1_Silent_p.T31T|WDR72_ENST00000557913.1_Silent_p.T31T|WDR72_ENST00000360509.5_Silent_p.T31T	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	31										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CAGTCACAATCGTTCGCTGGT	0.512000													42	74					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906468	13906468	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:13906468C>T	ENST00000279593.3	-	3	1002	c.793G>A	c.(793-795)Gat>Aat	p.D265N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	265					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)	GTGTCTGTATCCCCTGCCACC	0.547000													32	58					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110416793	110416793	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:110416793G>A	ENST00000378402.5	+	15	1488	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	462					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATACTATATTGAAATCTTGCT	0.299000										HNSCC(38;0.096)			10	16					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381031	147381031	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:147381031C>T	ENST00000240986.4	+	2	1002	c.949C>T	c.(949-951)Caa>Taa	p.Q317*	GJA8_ENST00000369235.1_Nonsense_Mutation_p.Q317*	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	317					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.Q317E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGGGGCTACCAAGAGACACT	0.627000													19	57					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43534617	43534617	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr18:43534617C>T	ENST00000282041.5	-	2	785	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	251					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GGTACTAGTTCCAGTTGAGAC	0.463000													36	73					0	0	1	0	0
BEGAIN	57596	broad.mit.edu	37	14	101005380	101005380	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:101005380C>T	ENST00000556751.1	-	5	3920	c.516G>A	c.(514-516)ccG>ccA	p.P172P	BEGAIN_ENST00000443071.2_Silent_p.P236P|CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000355173.2_Silent_p.P236P			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	236						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCCGCTCCTCCGGGCAGTAGA	0.716000													8	16					0	0	1	0	0
FAIM3	9214	broad.mit.edu	37	1	207086375	207086375	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:207086375G>A	ENST00000367091.3	-	3	529	c.386C>T	c.(385-387)tCa>tTa	p.S129L	FAIM3_ENST00000442471.2_Missense_Mutation_p.S17L|FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.S129L	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	129					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					CTCTTCCCATGATGGCTCGTA	0.463000											OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	63	127					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671770	125671770	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:125671770G>A	ENST00000431078.1	+	24	4190	c.3826G>A	c.(3826-3828)Gag>Aag	p.E1276K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1276					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCAGATGAAGGAGAAGGAATA	0.433000													27	64					0	0	1	0	0
C8orf47	203111	broad.mit.edu	37	8	99101873	99101873	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:99101873G>A	ENST00000318528.3	+	2	987	c.628G>A	c.(628-630)Gga>Aga	p.G210R	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	210										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GGGCACAGTGGGAAAGGATGA	0.463000													18	39					0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197656111	197656111	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:197656111C>T	ENST00000263956.3	-	4	574	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	GTF3C3_ENST00000409364.3_Missense_Mutation_p.R162Q|GTF3C3_ENST00000470386.1_5'UTR	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	162						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ACGTTCTCCTCGAGCAAAACG	0.418000													37	48					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69002868	69002868	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:69002868A>C	ENST00000288368.4	+	20	2445	c.2168A>C	c.(2167-2169)aAt>aCt	p.N723T	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	723	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATCAAGGTGAATGGAATCAAT	0.448000													23	52					0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353965	45353965	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr20:45353965C>T	ENST00000359271.2	+	2	540	c.290C>T	c.(289-291)tCc>tTc	p.S97F		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	97						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CTGGCTGGTTCCCTGGCCTGG	0.632000													25	82					0	0	1	0	0
FZD9	8326	broad.mit.edu	37	7	72849776	72849776	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:72849776C>T	ENST00000344575.3	+	1	1668	c.1439C>T	c.(1438-1440)gCc>gTc	p.A480V		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	480					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGCCTTCGGGCCACAGAGCAG	0.657000													28	48					0	0	1	0	0
HBG2	3048	broad.mit.edu	37	11	5275535	5275535	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:5275535G>A	ENST00000380259.2	-	7	1542	c.302C>T	c.(301-303)cCt>cTt	p.P101L	HBG2_ENST00000380252.1_Missense_Mutation_p.P91L|HBG2_ENST00000336906.4_Missense_Mutation_p.P101L					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGTTCTCAGGATCCACATG	0.502000													13	81					0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56435334	56435334	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:56435334G>A	ENST00000584437.1	-	8	3758	c.1803C>T	c.(1801-1803)tcC>tcT	p.S601S	RNF43_ENST00000577625.1_Silent_p.S474S|RNF43_ENST00000577716.1_Silent_p.S601S|RNF43_ENST00000581868.1_Silent_p.S474S|RNF43_ENST00000407977.2_Silent_p.S601S|RNF43_ENST00000583753.1_Silent_p.S560S|RNF43_ENST00000500597.2_Silent_p.S560S|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	601	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGCTGAGTTGGATCTGGTGA	0.657000													43	109					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86278331	86278331	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:86278331G>A	ENST00000394518.2	+	31	7486	c.7391G>A	c.(7390-7392)aGa>aAa	p.R2464K	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.R709K|AKAP13_ENST00000361243.2_Missense_Mutation_p.R2468K	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2464	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTGCCCCGGAGAGCAGAGACC	0.502000													84	175					0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74468143	74468143	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:74468143C>T	ENST00000249842.3	+	2	1301	c.944C>T	c.(943-945)cCc>cTc	p.P315L	ISLR_ENST00000395118.1_Missense_Mutation_p.P315L|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	315	Ig-like.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CTGCTTATCCCCGACTTTGGC	0.662000													27	37					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164341	150164341	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:150164341C>T	ENST00000307271.3	+	2	1129	c.555C>T	c.(553-555)ctC>ctT	p.L185L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	185						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGTTGGAGCTCCTTCGCAAGG	0.433000													54	147					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52257747	52257747	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:52257747G>A	ENST00000494383.1	-	5	1044	c.1045C>T	c.(1045-1047)Cct>Tct	p.P349S	TLR9_ENST00000597542.1_Silent_p.L219L|TLR9_ENST00000360658.2_Silent_p.L195L			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CCAGGCCAAGGAGGGCACCCG	0.612000													37	59					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158326582	158326582	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:158326582C>T	ENST00000444681.2	+	5	1059	c.766C>T	c.(766-768)Cag>Tag	p.Q256*	CD1E_ENST00000368157.1_Nonsense_Mutation_p.Q99*|CD1E_ENST00000368160.3_Nonsense_Mutation_p.Q343*|CD1E_ENST00000368156.1_Nonsense_Mutation_p.Q253*|CD1E_ENST00000368163.3_Nonsense_Mutation_p.Q288*|CD1E_ENST00000368155.3_Nonsense_Mutation_p.Q198*|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368154.1_Nonsense_Mutation_p.Q111*|CD1E_ENST00000452291.2_Nonsense_Mutation_p.Q166*|CD1E_ENST00000368165.3_Nonsense_Mutation_p.Q265*|CD1E_ENST00000368167.3_Nonsense_Mutation_p.Q355*|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368166.3_Nonsense_Mutation_p.Q154*	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	355	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AGCCAACACTCAGGACACCAA	0.433000													28	61					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34101012	34101012	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:34101012G>A	ENST00000374181.3	-	1	431	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	GRM4_ENST00000374177.3_Intron|GRM4_ENST00000538487.1_Missense_Mutation_p.R88C	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	88					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TTGTTGATGCGATCCAGGGCG	0.632000													15	28					0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45800590	45800590	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:45800590G>A	ENST00000358525.4	-	11	1774	c.1659C>T	c.(1657-1659)gcC>gcT	p.A553A	SLC6A20_ENST00000353278.4_Silent_p.A516A|SLC6A20_ENST00000456124.2_Intron	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	553					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCAGTGCATAGGCCGGGTAAT	0.632000													18	40					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960983	73960983	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:73960983G>A	ENST00000373468.1	-	3	4060	c.3409C>T	c.(3409-3411)Cag>Tag	p.Q1137*	KIAA2022_ENST00000055682.5_Nonsense_Mutation_p.Q1137*			Q5QGS0	K2022_HUMAN	KIAA2022	1137					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATATGGAACTGAAACTGGTGA	0.413000													43	15					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70450945	70450945	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr18:70450945C>T	ENST00000327305.6	-	7	1493	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	NETO1_ENST00000299430.2_Missense_Mutation_p.R278Q|NETO1_ENST00000583169.1_Missense_Mutation_p.R279Q	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	279	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CATCTGAAATCGGCTGTTTCG	0.453000													46	102					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46897091	46897091	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:46897091C>T	ENST00000378623.1	-	27	4083	c.3841G>A	c.(3841-3843)Ggt>Agt	p.G1281S		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1281					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CTGCCAGTACCCTTGTCAGCA	0.592000													12	56					0	0	1	0	0
DUSP15	128853	broad.mit.edu	37	20	30458380	30458380	+	Splice_Site	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr20:30458380C>T	ENST00000278979.3	-	1	87	c.12_splice	c.e1+1	p.G4_splice	DUSP15_ENST00000375966.4_Splice_Site_p.G4_splice|DUSP15_ENST00000339738.5_5'UTR			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	4						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCCTCCTACCCCTTCGGTCAT	0.776000													5	3					0	0	1	0	0
CLEC18B	497190	broad.mit.edu	37	16	74443458	74443458	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr16:74443458G>A	ENST00000339953.5	-	12	1441	c.1320C>T	c.(1318-1320)atC>atT	p.I440I		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	440	C-type lectin.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAAACTGGCAGATGTAACGGT	0.597000													10	50					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230253102	230253102	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:230253102G>A	ENST00000341772.4	-	11	1868	c.1734C>T	c.(1732-1734)tgC>tgT	p.C578C		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	578	EGF-like 9.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.C578C(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGTCAATGTCGCACTCTTCAC	0.502000													50	68					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170127610	170127610	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:170127610C>T	ENST00000263816.3	-	16	2409	c.2124G>A	c.(2122-2124)caG>caA	p.Q708Q	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	708					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGAGGAAATTCTGAACAGCTG	0.438000													11	15					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55450870	55450870	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:55450870C>T	ENST00000446217.1	-	6	1803	c.1401G>A	c.(1399-1401)ggG>ggA	p.G467G	NLRP7_ENST00000328092.5_Silent_p.G439G|NLRP7_ENST00000592784.1_Silent_p.G439G|NLRP7_ENST00000590030.1_Silent_p.G439G|NLRP7_ENST00000588756.1_Silent_p.G439G|NLRP7_ENST00000340844.2_Silent_p.G439G|NLRP7_ENST00000448121.2_Silent_p.G439G			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	439	NACHT.						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)		ACTCCTGCACCCCGAGCCTTT	0.662000													15	29					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191876	66191876	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:66191876C>T	ENST00000311034.2	+	7	1691	c.1515C>T	c.(1513-1515)acC>acT	p.T505T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	505					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTCCCTGCACCTCCACCTTCC	0.587000													116	171					0	0	1	0	0
CAV3	859	broad.mit.edu	37	3	8787320	8787320	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:8787320C>A	ENST00000343849.2	+	2	300	c.223C>A	c.(223-225)Ctg>Atg	p.L75M	CAV3_ENST00000472766.1_Intron|CAV3_ENST00000397368.2_Missense_Mutation_p.L75M	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	75	Required for interaction with DAG1.				cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity	p.L75M(1)		breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						GTGCTACCGTCTGTTGTCCAC	0.592000													12	26					7.03913e-09	7.08861e-09	1	1	0
MMP13	4322	broad.mit.edu	37	11	102818663	102818663	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:102818663C>T	ENST00000260302.3	-	8	1196	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	MMP13_ENST00000340273.4_Missense_Mutation_p.D390N	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	390	Hemopexin-like 3.		D -> G (in dbSNP:rs17860568).		collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TTGCCTGTATCCTCAAAGTGA	0.438000													22	19					0	0	1	0	0
ERVW-1	30816	broad.mit.edu	37	7	92098549	92098549	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:92098549G>A	ENST00000493463.2	-	1	2070	c.1147C>T	c.(1147-1149)Cga>Tga	p.R383*	ERVW-1_ENST00000604270.1_Intron|ERVW-1_ENST00000603053.1_Nonsense_Mutation_p.R383*|AC007566.10_ENST00000427458.1_RNA	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		383	Immunosuppression (By similarity).				syncytium formation	integral to membrane|plasma membrane|virion		p.R383*(1)		endometrium(1)|large_intestine(1)|lung(15)	17						aaagctcttcgattttgaagg	0.448000													24	32					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35700639	35700639	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:35700639C>T	ENST00000440995.2	+	16	2168	c.2168C>T	c.(2167-2169)cCa>cTa	p.P723L	SPEF2_ENST00000356031.3_Missense_Mutation_p.P728L|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.P723L			Q9C093	SPEF2_HUMAN	sperm flagellar 2	728					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATGGTTTTCCAATGACTTTA	0.368000													19	50					0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617672	111617672	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:111617672G>A	ENST00000374667.3	-	1	1567	c.539C>T	c.(538-540)tCc>tTc	p.S180F		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	180						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAACGACTGGGACGTCACGTG	0.647000													11	52					0	0	1	0	0
LOC101929950	101929950	broad.mit.edu	37	17	36359029	36359029	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:36359029C>T	ENST00000312412.4	-	6	661	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R66Q																kidney(1)|lung(3)	4						GTATGGTTTCCGGTCAATTAC	0.348000													38	311					0	0	1	0	0
ING1	3621	broad.mit.edu	37	13	111368056	111368056	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr13:111368056C>T	ENST00000375774.3	+	1	728	c.266C>T	c.(265-267)cCt>cTt	p.P89L	ING1_ENST00000338450.7_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000464141.1_Intron|ING1_ENST00000375775.3_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	89					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCCTCCTGGCCTCCGCCCTCC	0.697000													6	10					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95481750	95481750	+	RNA	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:95481750C>T	ENST00000432432.2	-	0	1610					NR_040113.1																						TTATGAAAATCCTAAATAAAA	0.303000													28	91					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179440911	179440911	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:179440911G>A	ENST00000589042.1	-	326	70172	c.69948C>T	c.(69946-69948)atC>atT	p.I23316I	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.I21675I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.I14443I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.I14376I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.I20748I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.I14251I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21675	Fibronectin type-III 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATGGCACTGATTCTGAAGT	0.478000													22	47					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107431189	107431189	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:107431189G>A	ENST00000334504.7	-	22	1889	c.1656C>T	c.(1654-1656)atC>atT	p.I552I	COL4A6_ENST00000372216.4_Silent_p.I553I|COL4A6_ENST00000538570.1_Silent_p.I552I|COL4A6_ENST00000394872.2_Silent_p.I553I|COL4A6_ENST00000545689.1_Silent_p.I552I	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	553	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GCATTCCTTGGATTGTACTGA	0.532000									Alport syndrome with Diffuse Leiomyomatosis				58	25					0	0	1	0	0
C11orf48	79081	broad.mit.edu	37	11	62430766	62430766	+	Missense_Mutation	SNP	C	C	T	rs144393003		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:62430766C>T	ENST00000431002.2	-	4	2514	c.781G>A	c.(781-783)Gcg>Acg	p.A261T	C11orf48_ENST00000532208.1_Missense_Mutation_p.A235T|C11orf48_ENST00000525675.1_Silent_p.K68K|RP11-831H9.11_ENST00000528405.1_Silent_p.K68K|C11orf48_ENST00000524958.1_Silent_p.K68K|C11orf48_ENST00000354588.3_Missense_Mutation_p.A235T			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	261										endometrium(1)|lung(5)|urinary_tract(1)	7						GTTTTCTGCGCTTCTTCCCTG	0.512000													20	29					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37770734	37770734	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr22:37770734G>A	ENST00000402918.1	-	3	1626	c.841C>T	c.(841-843)Ctt>Ttt	p.L281F	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.L281F	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	281						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TCCACCGAAAGGATCTCGTCG	0.692000													41	52					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42012084	42012084	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:42012084G>A	ENST00000395925.3	-	13	2039	c.1955C>T	c.(1954-1956)cCc>cTc	p.P652L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	652					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATCTCTCGGGGGTGGCGGCCG	0.612000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				75	99					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103136376	103136376	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:103136376G>A	ENST00000295269.4	+	9	2237	c.1780G>A	c.(1780-1782)Gac>Aac	p.D594N		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	594					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GTCCATAAGGGACATTCTGAC	0.448000													22	44					0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19093291	19093291	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:19093291C>A	ENST00000380502.3	-	4	781	c.314G>T	c.(313-315)gGa>gTa	p.G105V		NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	105					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAAGCTACTTCCACATTCACC	0.333000													26	30					2.4375e-19	2.48079e-19	1	1	0
CTNND2	1501	broad.mit.edu	37	5	11364989	11364989	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:11364989G>A	ENST00000304623.8	-	8	1380	c.1191C>T	c.(1189-1191)gcC>gcT	p.A397A	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.A397A|CTNND2_ENST00000503622.1_Silent_p.A60A|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.A306A	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	397					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCTGTATGAGGCTCGGGAAC	0.493000													9	26					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24421410	24421410	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:24421410G>A	ENST00000330966.7	-	9	1026	c.864C>T	c.(862-864)ccC>ccT	p.P288P	MYOM3_ENST00000329601.7_Silent_p.P287P|MYOM3_ENST00000374434.3_Silent_p.P287P|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	287	Ig-like C2-type 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ACAGGGAGAAGGGTTCCTTCT	0.557000													16	29					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50893056	50893056	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr22:50893056G>A	ENST00000380817.2	-	36	5111	c.4928C>T	c.(4927-4929)cCc>cTc	p.P1643L	SBF1_ENST00000390679.3_Missense_Mutation_p.P1617L|SBF1_ENST00000348911.6_Missense_Mutation_p.P1618L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1617					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TTCCTCTGGGGGTTCAGGGGG	0.667000													33	67					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57136744	57136744	+	Missense_Mutation	SNP	G	G	A	rs138933353		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr18:57136744G>A	ENST00000439986.4	-	4	398	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	121					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TGTCTCTCCCGGTCATATCGG	0.522000													88	135					0	0	1	0	0
NUFIP1	26747	broad.mit.edu	37	13	45563313	45563313	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr13:45563313G>A	ENST00000379161.4	-	1	305	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S	RP11-321C24.1_ENST00000437748.2_lincRNA	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	87	Pro-rich.				box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TGCGCCCCGGGAAGAATCTGG	0.652000													9	16					0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203591027	203591027	+	Nonsense_Mutation	SNP	C	C	T	rs61740247		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:203591027C>T	ENST00000303116.6	+	4	911	c.169C>T	c.(169-171)Cga>Tga	p.R57*	FAM117B_ENST00000392238.2_Nonsense_Mutation_p.R301*	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	301	Gly-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TCGGCATCATCGAGATAAAGA	0.403000													17	66					0	0	1	0	0
OR7G3	390883	broad.mit.edu	37	19	9236773	9236773	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:9236773A>C	ENST00000305444.2	-	1	853	c.854T>G	c.(853-855)cTg>cGg	p.L285R		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GAGTGGGTTCAGCATGGGGGT	0.473000													32	54					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445417	150445417	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:150445417C>T	ENST00000401000.4	+	10	3980	c.3915C>T	c.(3913-3915)ctC>ctT	p.L1305L	RPRD2_ENST00000369068.4_Silent_p.L1331L|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1331	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATAGTTCCCTCCTTCAAGGGA	0.632000													12	43					0	0	1	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55614817	55614817	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:55614817G>A	ENST00000263433.3	-	4	706	c.691C>T	c.(691-693)Ctg>Ttg	p.L231L	PPP1R12C_ENST00000376393.2_Silent_p.L231L|PPP1R12C_ENST00000435544.2_Silent_p.L157L	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	231						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GCCACGTGCAGGGCAGAGGCG	0.597000													11	39					0	0	1	0	0
RRM2	6241	broad.mit.edu	37	2	10269209	10269209	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:10269209G>A	ENST00000360566.2	+	9	1416	c.1125G>A	c.(1123-1125)atG>atA	p.M375I	RRM2_ENST00000304567.5_Missense_Mutation_p.M315I	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	315					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		TCATTGGGATGAATTGCACTC	0.418000													54	43					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183522201	183522201	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:183522201G>A	ENST00000511685.1	+	4	759	c.636G>A	c.(634-636)agG>agA	p.R212R	TENM3_ENST00000406950.2_Silent_p.R212R					teneurin transmembrane protein 3																		CCAATAGAAGGAACCAGAGTC	0.587000													47	48					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240267	3240267	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:3240267C>T	ENST00000217939.6	-	5	3613	c.3459G>A	c.(3457-3459)ggG>ggA	p.G1153G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1153						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATCTCCTTCTCCCGTTGGGTC	0.507000													42	20					0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59851890	59851890	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:59851890C>T	ENST00000361421.1	-	3	602	c.382G>A	c.(382-384)Gga>Aga	p.G128R		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	128						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				AGCAGTGTTCCATCCTGGCCC	0.473000													47	59					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128346131	128346131	+	Splice_Site	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:128346131G>A	ENST00000389524.4	+	15	1907		c.e15+1		MYO7B_ENST00000428314.1_Splice_Site|MYO7B_ENST00000409816.2_Splice_Site			Q6PIF6	MYO7B_HUMAN	myosin VIIB							apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCTCTTCAAGGTGGGCTCCCA	0.542000													21	39					0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59730346	59730346	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:59730346G>A	ENST00000395125.1	+	1	174	c.151G>A	c.(151-153)Gag>Aag	p.E51K	DAAM1_ENST00000556135.1_Missense_Mutation_p.E51K|DAAM1_ENST00000351081.1_Missense_Mutation_p.E51K|DAAM1_ENST00000360909.3_Missense_Mutation_p.E51K	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	51	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GCCCCCTGTGGAGGAGCTGGA	0.502000													23	53					0	0	1	0	0
SCN1B	6324	broad.mit.edu	37	19	35523450	35523450	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:35523450G>A	ENST00000262631.5	+	2	196	c.59G>A	c.(58-60)gGc>gAc	p.G20D	SCN1B_ENST00000415950.3_Missense_Mutation_p.G20D|SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Missense_Mutation_p.G20D	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	20					axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCCTGCGGGGGCTGCGTGGAG	0.607000													31	55					0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116960716	116960716	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:116960716C>T	ENST00000265441.3	-	2	514	c.215G>A	c.(214-216)tGg>tAg	p.W72*	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	72					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TTCTGCTGTCCACTCGGCCAC	0.592000													19	30					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113233760	113233760	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:113233760G>A	ENST00000401783.2	-	16	3218	c.2882C>T	c.(2881-2883)cCc>cTc	p.P961L	SVEP1_ENST00000302728.8_Missense_Mutation_p.P961L|SVEP1_ENST00000374469.1_Missense_Mutation_p.P938L|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	961					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGAATACATGGGGTCTTTGTT	0.413000													7	30					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684339	75684339	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:75684339G>A	ENST00000370855.5	-	17	1478	c.1365C>T	c.(1363-1365)acC>acT	p.T455T	SLC44A5_ENST00000370859.3_Silent_p.T455T|SLC44A5_ENST00000535611.1_Silent_p.T325T	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	455						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ATACATGGAAGGTAGGGATGT	0.423000													55	70					0	0	1	0	0
NPDC1	56654	broad.mit.edu	37	9	139934479	139934479	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:139934479C>T	ENST00000371600.3	-	7	1735	c.1063G>A	c.(1063-1065)Gat>Aat	p.D355N	NPDC1_ENST00000371601.4_Missense_Mutation_p.D277N			Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	277						integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		TTCTCCTCATCCGAGGAGGCC	0.672000													16	36					0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9609151	9609151	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:9609151C>T	ENST00000310430.6	+	19	2891	c.2865C>T	c.(2863-2865)gcC>gcT	p.A955A	TNKS_ENST00000518281.1_Silent_p.A718A	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	955					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TGATAGATGCCATGCCCCCAG	0.428000													69	119					0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42085847	42085847	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:42085847G>A	ENST00000407170.2	+	4	995	c.182G>A	c.(181-183)aGg>aAg	p.R61K	CEACAM21_ENST00000401445.2_Missense_Mutation_p.R189K|CEACAM21_ENST00000187608.9_Missense_Mutation_p.R189K|CEACAM21_ENST00000482870.2_3'UTR			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	189						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GTCACGAAGAGGATGAAGCTG	0.537000													7	16					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318098	30318098	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:30318098C>T	ENST00000375377.1	-	3	1080	c.979G>A	c.(979-981)Gag>Aag	p.E327K		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	327	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AGGCAGAGCTCATGCCTGGGG	0.597000													57	129					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75705148	75705148	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:75705148G>A	ENST00000394947.3	-	5	1026	c.712C>T	c.(712-714)Cct>Tct	p.P238S	SIN3A_ENST00000360439.4_Missense_Mutation_p.P238S|SIN3A_ENST00000394949.4_Missense_Mutation_p.P238S	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	238	Interaction with REST (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ggctgggcaggagctggggct	0.572000													37	41					0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	886159	886159	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:886159A>G	ENST00000312090.6	-	5	640	c.490T>C	c.(490-492)Ttc>Ctc	p.F164L	MED16_ENST00000395808.3_Missense_Mutation_p.F164L|MED16_ENST00000589119.1_Missense_Mutation_p.F164L|MED16_ENST00000325464.1_Missense_Mutation_p.F164L|MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Missense_Mutation_p.F164L			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	164					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACGGTGAGAACTTGACTCGG	0.682000													11	18					0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63538645	63538645	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:63538645C>T	ENST00000550760.3	+	4	1397	c.1218C>T	c.(1216-1218)acC>acT	p.T406T		NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						AAAGCTTTACCTGCTCCTCAA	0.398000													16	17					0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39672255	39672255	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr21:39672255G>A	ENST00000398930.1	+	4	1426	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	KCNJ15_ENST00000398934.1_Missense_Mutation_p.E358K|KCNJ15_ENST00000328656.3_Missense_Mutation_p.E358K|KCNJ15_ENST00000398932.1_Missense_Mutation_p.E358K|KCNJ15_ENST00000398938.2_Missense_Mutation_p.E358K			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	358					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						GTACAGGCAGGAGGATCAGAG	0.468000													23	71					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55508783	55508783	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:55508783C>T	ENST00000543010.1	+	12	3121	c.2978C>T	c.(2977-2979)cCc>cTc	p.P993L	NLRP2_ENST00000339757.7_Missense_Mutation_p.P971L|NLRP2_ENST00000427260.2_Missense_Mutation_p.P970L|NLRP2_ENST00000537859.1_Missense_Mutation_p.P971L|NLRP2_ENST00000538819.1_Missense_Mutation_p.P969L|NLRP2_ENST00000391721.4_Missense_Mutation_p.P969L|NLRP2_ENST00000263437.6_Missense_Mutation_p.P990L|NLRP2_ENST00000448584.2_Missense_Mutation_p.P993L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	993					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGTCAGAATCCCTTGGGGTCT	0.542000													28	104					0	0	1	0	0
CACNG6	59285	broad.mit.edu	37	19	54503006	54503006	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:54503006C>T	ENST00000252729.2	+	3	1115	c.525C>T	c.(523-525)gcC>gcT	p.A175A	CACNG6_ENST00000352529.1_Intron|CACNG6_ENST00000346968.2_Intron	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	175						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GAGTTGGAGCCGTCTGCTTTG	0.587000													59	86					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41556696	41556696	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr22:41556696C>T	ENST00000263253.7	+	20	4860	c.3641C>T	c.(3640-3642)tCt>tTt	p.S1214F		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1214					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.Y1198_L1243del(1)|p.S1214Y(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GAGAGCGTTTCTTTGGGGGAT	0.438000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				25	45					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146086315	146086315	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:146086315G>A	ENST00000454497.2	-	4	271	c.134C>T	c.(133-135)tCt>tTt	p.S45F	OTUD4_ENST00000296579.6_Missense_Mutation_p.S45F|OTUD4_ENST00000509620.2_Missense_Mutation_p.S45F|OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Missense_Mutation_p.S110F	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	110	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GTACATAAGAGAAAGGGCACT	0.308000													14	20					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170725	113170725	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:113170725G>A	ENST00000401783.2	-	38	7491	c.7155C>T	c.(7153-7155)ccC>ccT	p.P2385P	SVEP1_ENST00000374469.1_Silent_p.P2362P|SVEP1_ENST00000297826.5_Silent_p.P311P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2385	Sushi 17.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGGAAATTAGGGGAGGTGGGG	0.453000													15	33					0	0	1	0	0
TAAR5	9038	broad.mit.edu	37	6	132910399	132910399	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:132910399G>A	ENST00000258034.2	-	1	478	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	143					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		AACTTGGAGGGATAGAGCAGG	0.547000													25	35					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3328320	3328320	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:3328320C>T	ENST00000378398.3	+	10	1644	c.1562C>T	c.(1561-1563)cCa>cTa	p.P521L	PRDM16_ENST00000378391.2_Missense_Mutation_p.P520L|PRDM16_ENST00000442529.2_Missense_Mutation_p.P520L|PRDM16_ENST00000441472.2_Missense_Mutation_p.P520L|PRDM16_ENST00000270722.5_Missense_Mutation_p.P520L|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Missense_Mutation_p.P521L|PRDM16_ENST00000511072.1_Missense_Mutation_p.P521L			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	520	Pro-rich.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ATCTTCCCTCCATCCTTGTAC	0.687000			T	EVI1	"""MDS, AML"""								49	107					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	61989096	61989096	+	Silent	SNP	G	G	A	rs140851159		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:61989096G>A	ENST00000474889.1	+	4	821	c.444G>A	c.(442-444)gtG>gtA	p.V148V	PTPRG_ENST00000295874.10_Silent_p.V148V	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	148	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTGAGAAGGTGGAATTTCACT	0.493000													30	62					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52549028	52549028	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:52549028G>A	ENST00000321725.6	+	36	3907	c.3831G>A	c.(3829-3831)agG>agA	p.R1277R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1277					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACTGCACCAGGAGATTCCGCT	0.582000													15	27					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111658403	111658403	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:111658403G>A	ENST00000431670.2	+	7	2623	c.2212G>A	c.(2212-2214)Gaa>Aaa	p.E738K	PHLDB2_ENST00000481953.1_Missense_Mutation_p.E695K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E695K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E722K|PHLDB2_ENST00000495180.1_Missense_Mutation_p.E324K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E738K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	738						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CCGTCTAGATGAAGAAAAGGA	0.433000													31	57					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67567606	67567606	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:67567606G>A	ENST00000478722.1	+	13	2392	c.1271G>A	c.(1270-1272)gGg>gAg	p.G424E	GPHN_ENST00000315266.5_Missense_Mutation_p.G391E|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.G437E|GPHN_ENST00000305960.9_Missense_Mutation_p.G360E	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	391	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TTCATCATTGGGGAATCCCAA	0.448000			T	MLL	AL								22	35					0	0	1	0	0
COX10-AS1	100874058	broad.mit.edu	37	17	13927886	13927886	+	RNA	SNP	G	G	A	rs11649821	by1000genomes	TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:13927886G>A	ENST00000602743.1	-	0	224																											AACGGAGGGAGTGAGAGCCTT	0.562000													4	35					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921036	24921036	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:24921036T>C	ENST00000329468.2	+	1	496	c.22T>C	c.(22-24)Ttt>Ctt	p.F8L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ACTTAGTAAATTTAGACCCGG	0.662000													11	5					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78923611	78923611	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:78923611G>A	ENST00000545128.1	+	28	4112	c.3574G>A	c.(3574-3576)Gga>Aga	p.G1192R		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	847					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AACCTGCAATGGATCTGCAAC	0.433000													8	28					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8176611	8176611	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:8176611T>G	ENST00000600128.1	-	32	4419	c.4005A>C	c.(4003-4005)agA>agC	p.R1335S	FBN3_ENST00000601739.1_Missense_Mutation_p.R1335S|FBN3_ENST00000270509.2_Missense_Mutation_p.R1335S			Q75N90	FBN3_HUMAN	fibrillin 3	1335	EGF-like 20; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GACAGTCACCTCTTGGGCTGC	0.632000													6	22					0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39884910	39884910	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr22:39884910G>A	ENST00000341184.6	+	2	1773	c.1558G>A	c.(1558-1560)Gga>Aga	p.G520R		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	520					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGGTCCCGAGGGAAGGCCGCC	0.687000													6	5					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486595	125486595	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:125486595G>A	ENST00000259466.1	+	1	327	c.327G>A	c.(325-327)ggG>ggA	p.G109G		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TGGCATTTGGGAACACTGACA	0.483000													62	72					0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47711663	47711663	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:47711663G>A	ENST00000525123.1	-	10	1881	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	AGBL2_ENST00000528244.1_Silent_p.F494F|AGBL2_ENST00000357610.3_Silent_p.F532F|AGBL2_ENST00000298861.4_Silent_p.F532F|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	532					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						AAATACAAGGGAAAGACTCCT	0.428000													17	57					0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10874853	10874853	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:10874853G>A	ENST00000379491.4	-	5	1043	c.896C>T	c.(895-897)cCt>cTt	p.P299L	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	299					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGTGTCATTAGGGATACTGGT	0.423000													109	177					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830360	61830360	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:61830360A>C	ENST00000280772.1	-	37	10470	c.10279T>G	c.(10279-10281)Ttg>Gtg	p.L3427V	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3427					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTCTCTGTCAAGCCATCATCT	0.463000													32	60					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179380393	179380393	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:179380393G>A	ENST00000367618.3	+	12	1609	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.A408T	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	408										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATATGAATTGGCCCTGAAGGT	0.323000													48	79					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599728	136599728	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:136599728C>T	ENST00000531224.1	-	4	543	c.291G>A	c.(289-291)tgG>tgA	p.W97*	BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.W97*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.W97*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.W95*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.W95*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.W95*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	97					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GCCTTCTATTCCAGACAGGTC	0.478000													34	95					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153073876	153073876	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:153073876C>T	ENST00000164640.4	-	2	426	c.235G>A	c.(235-237)Gag>Aag	p.E79K	PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000544474.1_Intron|PDZD4_ENST00000475140.1_5'UTR	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	79						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGATATGCTCGAAGGTGATG	0.662000													21	9					0	0	1	0	0
GP6	51206	broad.mit.edu	37	19	55543745	55543745	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:55543745G>A	ENST00000310373.3	-	3	114	c.87C>T	c.(85-87)tcC>tcT	p.S29S	CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|GP6_ENST00000333884.2_Silent_p.S29S|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000417454.1_Silent_p.S29S	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	29	Ig-like C2-type 1.				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		GAGCCTGGAGGGAGGGCTTGG	0.721000													13	21					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98363750	98363750	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:98363750C>T	ENST00000339364.5	-	15	2346	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K	PIK3AP1_ENST00000371109.3_Missense_Mutation_p.E342K|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.E565K	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	743						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TTGTCCCCTTCCATCCCGCTG	0.552000													4	3					0	0	1	0	0
XRCC5	7520	broad.mit.edu	37	2	217012832	217012832	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:217012832C>T	ENST00000392133.3	+	16	1964	c.1503C>T	c.(1501-1503)ccC>ccT	p.P501P	XRCC5_ENST00000392132.2_Silent_p.P501P			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	501	Pro-rich.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		CTTTACATCCCCGGGAGCCTC	0.413000								Non-homologous end-joining					22	92					0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46937273	46937273	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:46937273G>A	ENST00000313049.5	+	3	430	c.227G>A	c.(226-228)gGg>gAg	p.G76E	PTH1R_ENST00000430002.2_Missense_Mutation_p.G76E|PTH1R_ENST00000418619.1_Missense_Mutation_p.G76E|PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000449590.1_Missense_Mutation_p.G76E			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	76						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						TCCACATCAGGGAAGCCCAGG	0.542000											OREG0015543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	55					0	0	1	0	0
CYP2U1	113612	broad.mit.edu	37	4	108870613	108870613	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:108870613C>T	ENST00000332884.6	+	4	1671	c.1396C>T	c.(1396-1398)Cga>Tga	p.R466*	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Nonsense_Mutation_p.R257*	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	466					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		CTACCCTAATCGATTTCTGGA	0.378000													15	35					0	0	1	0	0
CRYZ	1429	broad.mit.edu	37	1	75172072	75172072	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:75172072C>T	ENST00000417775.1	-	10	1402	c.898G>A	c.(898-900)Ggt>Agt	p.G300S	CRYZ_ENST00000370872.3_Missense_Mutation_p.G163S|CRYZ_ENST00000340866.5_Missense_Mutation_p.G300S|CRYZ_ENST00000492102.1_5'UTR|CRYZ_ENST00000370871.3_Missense_Mutation_p.G266S	NM_001130042.1	NP_001123514.1	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	300					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	TATTGAGAACCTATCACAGGT	0.388000													35	72					0	0	1	0	0
GPR155	151556	broad.mit.edu	37	2	175311446	175311446	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:175311446G>A	ENST00000392552.2	-	12	2144	c.1906C>T	c.(1906-1908)Cag>Tag	p.Q636*	GPR155_ENST00000295500.4_Nonsense_Mutation_p.Q636*|GPR155_ENST00000392551.2_Nonsense_Mutation_p.Q636*	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	636					intracellular signal transduction|transmembrane transport	integral to membrane		p.Q636K(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ATGCAGCTCTGGGAGTTACAG	0.393000													25	83					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764720	82764720	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:82764720G>A	ENST00000423517.2	-	3	2483	c.2146C>T	c.(2146-2148)Cct>Tct	p.P716S	PCLO_ENST00000333891.8_Missense_Mutation_p.P716S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	662	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGGCTGAAGGAGAGCCATGA	0.547000													30	58					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888526	38888526	+	Missense_Mutation	SNP	G	G	A	rs143537709		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:38888526G>A	ENST00000302328.3	-	26	5233	c.5035C>T	c.(5035-5037)Cgc>Tgc	p.R1679C	SCN11A_ENST00000456224.3_Missense_Mutation_p.R1641C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R1679C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1679					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1679C(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAGTGGAGGCGATCTTCACTC	0.463000													60	103					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35258649	35258649	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr21:35258649G>A	ENST00000381318.3	+	39	5190	c.4902G>A	c.(4900-4902)acG>acA	p.T1634T	ITSN1_ENST00000399367.3_Silent_p.T1629T|ITSN1_ENST00000381285.4_Silent_p.T1634T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000437442.2_Silent_p.T1573T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1634	C2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCACCAAGACGATCCAGGACA	0.552000													38	47					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725246	87725246	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:87725246C>T	ENST00000305344.4	+	2	897	c.194C>T	c.(193-195)gCc>gTc	p.A65V	HTR1E_ENST00000369584.1_Missense_Mutation_p.A65V	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	65					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TGTTCTCTGGCCGTGACGGAC	0.552000													45	32					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1083069	1083069	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:1083069G>A	ENST00000441003.2	+	16	1996	c.1969G>A	c.(1969-1971)Gat>Aat	p.D657N	MUC2_ENST00000359061.5_Missense_Mutation_p.D657N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	657						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGCAGACAAGGATGTGGGCTC	0.662000													3	8					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54537566	54537566	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:54537566G>A	ENST00000474759.1	+	5	477	c.429G>A	c.(427-429)ggG>ggA	p.G143G	CACNA2D3_ENST00000288197.5_Silent_p.G143G|CACNA2D3_ENST00000490478.1_Silent_p.G49G|CACNA2D3_ENST00000415676.2_Silent_p.G143G	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	143						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G143G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ACAAAGACGGGAATTTTTTGG	0.398000													22	49					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1262038	1262038	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr16:1262038C>T	ENST00000348261.5	+	25	4907	c.4659C>T	c.(4657-4659)gtC>gtT	p.V1553V	CACNA1H_ENST00000565831.1_Silent_p.V1553V|CACNA1H_ENST00000358590.4_Silent_p.V1553V	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1553					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCGTGGGCGTCGTGGTCGAGA	0.627000													59	132					0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219602568	219602568	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:219602568A>G	ENST00000392102.1	+	3	509	c.169A>G	c.(169-171)Aag>Gag	p.K57E	TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000442769.1_Missense_Mutation_p.K57E|TTLL4_ENST00000258398.4_Missense_Mutation_p.K57E	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	57					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GAAGCTGGAAAAGAAGCAAGT	0.582000													16	80					0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116048750	116048750	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:116048750G>A	ENST00000603594.1	+	12	1945	c.1624G>A	c.(1624-1626)Gta>Ata	p.V542I	VWA2_ENST00000392982.3_Missense_Mutation_p.V542I	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	542	VWFA 3.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CTCTGCCTCAGTAGGGCCCGA	0.577000													23	27					0	0	1	0	0
B3GNT2	10678	broad.mit.edu	37	2	62450370	62450370	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:62450370T>G	ENST00000301998.4	+	2	1267	c.1015T>G	c.(1015-1017)Tgc>Ggc	p.C339G	B3GNT2_ENST00000405767.1_Missense_Mutation_p.C339G	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	339						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			TACTGGAATGTGCCTTCAGAA	0.488000													37	47					0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91628400	91628400	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:91628400C>T	ENST00000375835.4	-	12	2053	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K		NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	583	SH2.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						AGACACAGCTCACTCCCTGCA	0.557000													35	39					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141708471	141708471	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:141708471G>A	ENST00000475668.2	+	3	347	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	MGAM_ENST00000549489.2_Missense_Mutation_p.R98Q			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	98	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R98Q(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAATTGGAACGAATTAATTGC	0.403000													26	56					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71197432	71197432	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:71197432G>A	ENST00000554752.2	-	12	2979	c.2980C>T	c.(2980-2982)Cgg>Tgg	p.R994W	MAP3K9_ENST00000555993.2_Missense_Mutation_p.R1008W|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R727W|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R971W|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R722W			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	994					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GGACGCGGCCGAGGCAGAAAC	0.627000													24	57					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56729236	56729236	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:56729236G>A	ENST00000389934.3	-	2	244	c.127C>T	c.(127-129)Ctt>Ttt	p.L43F	TEX14_ENST00000240361.8_Missense_Mutation_p.L43F|TEX14_ENST00000349033.5_Missense_Mutation_p.L43F	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	43						cytoplasm	ATP binding|protein kinase activity	p.L43I(2)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTTTCTTAAGAATTTTCTTC	0.413000													39	77					0	0	1	0	0
FSHB	2488	broad.mit.edu	37	11	30255117	30255117	+	Splice_Site	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:30255117G>A	ENST00000417547.1	+	3	199	c.159_splice	c.e3-1	p.D54_splice	FSHB_ENST00000254122.3_Splice_Site_p.D54_splice|FSHB_ENST00000533718.1_Splice_Site_p.D54_splice	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	54					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	AACTCCTCAGGATCTGGTGTA	0.428000													12	21					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639546	7639546	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:7639546G>A	ENST00000359156.4	-	9	2289	c.2087C>T	c.(2086-2088)tCg>tTg	p.S696L	CD163_ENST00000432237.2_Missense_Mutation_p.S696L|CD163_ENST00000541972.1_Missense_Mutation_p.S684L|CD163_ENST00000396620.3_Missense_Mutation_p.S729L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	696					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.S696L(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCCCAAAGACGATGAATTGCA	0.438000													25	53					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453936	84453936	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr13:84453936G>A	ENST00000377084.2	-	1	2592	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	569	LRRCT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGAGGAGCATGAAATCCTTTC	0.527000													10	24					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105174066	105174066	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:105174066C>T	ENST00000369797.3	+	11	1444	c.1350C>T	c.(1348-1350)atC>atT	p.I450I		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	450					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ATCATGACATCGAACCTGGGG	0.443000													14	14					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43161481	43161481	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr21:43161481G>A	ENST00000352483.2	-	9	2080	c.2016C>T	c.(2014-2016)atC>atT	p.I672I	RIPK4_ENST00000544709.1_Silent_p.I561I|RIPK4_ENST00000542057.1_Silent_p.I561I|RIPK4_ENST00000332512.3_Silent_p.I624I			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	624						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.I624M(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGCACAGGTCGATGAGGATGC	0.692000													49	107					0	0	1	0	0
P2RX7	5027	broad.mit.edu	37	12	121600297	121600297	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:121600297C>T	ENST00000546057.1	+	5	650	c.507C>T	c.(505-507)ccC>ccT	p.P169P	P2RX7_ENST00000377162.2_Silent_p.P169P|P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000328963.5_Intron|P2RX7_ENST00000535250.1_Silent_p.P79P|P2RX7_ENST00000443520.3_3'UTR	NM_002562.5	NP_002553.3	A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	169						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)					CCTGGTGCCCCATCGAGGCAG	0.592000													16	21					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90499510	90499510	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:90499510G>A	ENST00000369393.3	-	7	1334	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	MDN1_ENST00000428876.1_Missense_Mutation_p.P407S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	407					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACGTCTAAGGGGGCATAGTCA	0.453000													25	32					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140767861	140767861	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:140767861C>T	ENST00000519479.1	+	1	410	c.410C>T	c.(409-411)tCc>tTc	p.S137F	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCAAAATTCCTTTGAGCTG	0.433000													26	34					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57489238	57489238	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:57489238A>T	ENST00000371236.2	-	11	1124	c.861T>A	c.(859-861)agT>agA	p.S287R	DAB1_ENST00000371234.4_Missense_Mutation_p.S287R|DAB1_ENST00000371231.1_Missense_Mutation_p.S320R|DAB1_ENST00000439789.2_Missense_Mutation_p.S201R|DAB1_ENST00000414851.2_Missense_Mutation_p.S269R|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.S285R			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	320					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						AAGGTACAGAACTAAACACAT	0.512000													7	13					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181104	57181104	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:57181104C>T	ENST00000504228.1	+	6	1541	c.1436C>T	c.(1435-1437)cCc>cTc	p.P479L	KIAA1211_ENST00000541073.1_Missense_Mutation_p.P472L|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P479L			Q6ZU35	K1211_HUMAN	KIAA1211	479	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGTCCTGGGCCCGAGGAAAAG	0.652000													3	1					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81714125	81714125	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:81714125C>T	ENST00000356860.3	-	7	956	c.618G>A	c.(616-618)caG>caA	p.Q206Q	CACNA2D1_ENST00000356253.5_Silent_p.Q206Q|CACNA2D1_ENST00000423588.1_Silent_p.Q206Q	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	206						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TGCCAAAAACCTGCCACAATA	0.408000													41	55					0	0	1	0	0
SIAH2	6478	broad.mit.edu	37	3	150460058	150460058	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:150460058G>A	ENST00000312960.3	-	2	1372	c.845C>T	c.(844-846)tCg>tTg	p.S282L		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	282	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTCATGAATCGAACGGGGCGT	0.547000													11	76					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087124	39087124	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr21:39087124C>T	ENST00000400482.3	-	3	925	c.336G>A	c.(334-336)tgG>tgA	p.W112*	KCNJ6_ENST00000288309.6_Nonsense_Mutation_p.W112*	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	112					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ATGCGATCAACCACCAGATCA	0.448000													70	185					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12836184	12836184	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:12836184C>T	ENST00000357726.4	+	2	813	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	262										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCTCAGTTCCTCAAGCTGG	0.502000													38	121					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45461956	45461956	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:45461956C>T	ENST00000303230.4	-	3	1060	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	335						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACAACCATTTCATTTAAAGAC	0.398000													11	28					0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101092788	101092788	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:101092788C>T	ENST00000537026.1	-	14	1244	c.885G>A	c.(883-885)aaG>aaA	p.K295K	NXF5_ENST00000473265.2_Silent_p.K295K|NXF5_ENST00000361708.2_Silent_p.K295K	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	295	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TCCTGCTATCCTTGAAGTACT	0.502000													66	37					0	0	1	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013383	142013383	+	RNA	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:142013383C>T	ENST00000390357.3	+	0	267																											TGAAAGTGTGCGAAGTCGCTT	0.507000													109	145					0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47143405	47143405	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr16:47143405G>A	ENST00000562435.1	-	7	1256	c.872C>T	c.(871-873)tCc>tTc	p.S291F	NETO2_ENST00000303155.5_Missense_Mutation_p.S284F	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	291	CUB 2.					integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CTCCACAAAGGAAGTAAAGAG	0.353000										HNSCC(25;0.065)			25	17					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3448530	3448530	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:3448530G>A	ENST00000301365.4	-	3	286	c.155C>T	c.(154-156)cCc>cTc	p.P52L	TRPV3_ENST00000576742.1_Missense_Mutation_p.P52L|TRPV3_ENST00000572519.1_Missense_Mutation_p.P52L			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	52						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TGTGGGGTTGGGTTCAAACCC	0.597000													22	12					0	0	1	0	0
C17orf58	284018	broad.mit.edu	37	17	65988212	65988212	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:65988212C>T	ENST00000449250.2	-	3	300	c.111G>A	c.(109-111)agG>agA	p.R37R	C17orf58_ENST00000334461.7_3'UTR|C17orf58_ENST00000536693.1_3'UTR			Q2M2W7	CQ058_HUMAN	chromosome 17 open reading frame 58	37										lung(2)	2	all_cancers(12;4.57e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCACAATATACCTGCTGCCTG	0.473000													29	64					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11687031	11687031	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:11687031C>T	ENST00000262442.3	+	40	7855	c.7787C>T	c.(7786-7788)aCg>aTg	p.T2596M	DNAH9_ENST00000454412.2_Missense_Mutation_p.T2596M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2596	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T2596M(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGAACCCCACGGCAGGCAGC	0.507000													16	13					0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113670641	113670641	+	Missense_Mutation	SNP	G	G	A	rs145730208		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:113670641G>A	ENST00000263326.3	+	1	94	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	IL37_ENST00000353225.3_Missense_Mutation_p.E18K|IL37_ENST00000352179.3_Missense_Mutation_p.E18K|IL37_ENST00000349806.3_Missense_Mutation_p.E18K	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	18					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding	p.E18K(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						TGAGGACTGGGAAAAAGATGA	0.438000													27	39					0	0	1	0	0
ZWILCH	55055	broad.mit.edu	37	15	66824698	66824698	+	Silent	SNP	T	T	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:66824698T>C	ENST00000307897.5	+	13	1649	c.1269T>C	c.(1267-1269)atT>atC	p.I423I	ZWILCH_ENST00000446801.2_Silent_p.I309I|ZWILCH_ENST00000535141.2_Silent_p.I309I|ZWILCH_ENST00000565627.1_Silent_p.I309I	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	423					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TTTTGGAAATTGGTTTGGACA	0.343000													22	31					0	0	1	0	0
TRIM27	5987	broad.mit.edu	37	6	28872089	28872089	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:28872089G>A	ENST00000377199.3	-	8	1656	c.1300C>T	c.(1300-1302)Cag>Tag	p.Q434*	TRIM27_ENST00000377194.3_Intron	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	434	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CCCACCCGCTGGAGCGGGGTC	0.532000			T	RET	papillary thyroid								51	117					0	0	1	0	0
TMIGD2	126259	broad.mit.edu	37	19	4298091	4298091	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:4298091C>T	ENST00000301272.2	-	2	343	c.298G>A	c.(298-300)Gac>Aac	p.D100N	TMIGD2_ENST00000600114.1_Intron|TMIGD2_ENST00000595645.1_Missense_Mutation_p.D100N|TMIGD2_ENST00000600349.1_Intron	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	100	Ig-like.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCACAGGGTCCAGCTGCAGG	0.637000													61	28					0	0	1	0	0
ETS1	2113	broad.mit.edu	37	11	128332407	128332407	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:128332407C>T	ENST00000392668.3	-	10	1375	c.1307G>A	c.(1306-1308)gGc>gAc	p.G436D	ETS1_ENST00000526145.1_Missense_Mutation_p.G305D|ETS1_ENST00000319397.5_Missense_Mutation_p.G392D|ETS1_ENST00000535549.1_Missense_Mutation_p.G176D|ETS1_ENST00000531611.1_3'UTR|ETS1_ENST00000345075.4_Missense_Mutation_p.G305D	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	392					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GTAGCGTAGGCCACGGCTCAG	0.468000													35	28					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18882973	18882973	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:18882973C>T	ENST00000388995.6	-	4	927	c.704G>A	c.(703-705)cGg>cAg	p.R235Q	SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R235Q|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R235Q|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	235										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCCGCTGCTCCGCACTCTGAG	0.592000													36	24					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20871992	20871992	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:20871992G>A	ENST00000262715.5	-	6	1124	c.1084C>T	c.(1084-1086)Cgt>Tgt	p.R362C	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	362	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ATGGCAGTACGGAGACAGGCG	0.582000													40	87					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179467008	179467008	+	Splice_Site	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:179467008C>T	ENST00000589042.1	-	283	55345		c.e283+1		TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Splice_Site	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTACTAGTACCTTGAATATC	0.353000													20	44					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89154685	89154685	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:89154685C>T	ENST00000554922.1	-	18	2920	c.2672G>A	c.(2671-2673)aGa>aAa	p.R891K	EML5_ENST00000352093.5_Missense_Mutation_p.R853K|EML5_ENST00000380664.5_Missense_Mutation_p.R891K	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	891						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAAGATGTCTCTCCAGATACA	0.403000													91	206					0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159175395	159175395	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:159175395C>T	ENST00000537147.1	+	3	1009	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	DARC_ENST00000368122.2_Silent_p.L56L|DARC_ENST00000368121.2_Silent_p.L58L			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	56					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CTCCTGTAACCTGCTGGATGA	0.522000													49	65					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19380941	19380941	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:19380941C>T	ENST00000338883.4	-	26	3593	c.3594G>A	c.(3592-3594)gaG>gaA	p.E1198E	MAP3K15_ENST00000359173.3_Silent_p.E633E|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Silent_p.E1030E	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1198							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GGTACTCTCTCTCTTTTTCAA	0.328000													61	22					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3028268	3028268	+	Silent	SNP	C	C	T	rs144086355		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:3028268C>T	ENST00000381127.1	+	10	1586	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	ARSF_ENST00000359361.2_Silent_p.A455A|ARSF_ENST00000537104.1_Silent_p.A455A	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	455						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCTGCACGCCGTGCGGTGGA	0.582000													42	30					0	0	1	0	0
CD8A	925	broad.mit.edu	37	2	87016468	87016468	+	Silent	SNP	A	A	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:87016468A>C	ENST00000409511.2	-	7	1633	c.603T>G	c.(601-603)gtT>gtG	p.V201V	CD8A_ENST00000538832.1_Silent_p.V242V|CD8A_ENST00000283635.3_Silent_p.V201V|CD8A_ENST00000352580.3_Intron|CD8A_ENST00000456996.2_Intron|CD8A_ENST00000409781.1_Silent_p.V164V	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	201					antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						AAAGGGTGATAACCAGTGACA	0.617000													25	58					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118374333	118374333	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:118374333C>T	ENST00000534358.1	+	27	7749	c.7726C>T	c.(7726-7728)Cca>Tca	p.P2576S	KMT2A_ENST00000354520.4_Missense_Mutation_p.P2535S|KMT2A_ENST00000389506.5_Missense_Mutation_p.P2573S	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AGTGGCCCAACCAAGCCCCAA	0.463000													31	22					0	0	1	0	0
ACOT4	122970	broad.mit.edu	37	14	74060573	74060573	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:74060573G>A	ENST00000326303.4	+	2	879	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	209					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GGAGTACTTCGAAGAAGCCGT	0.433000													22	88					0	0	1	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661650	113661650	+	RNA	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:113661650C>T	ENST00000393544.2	+	0	1698																											TGCCATGATCCCTCAGTGCAT	0.502000													11	32					0	0	1	0	0
KLHDC8B	200942	broad.mit.edu	37	3	49212334	49212334	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:49212334G>A	ENST00000332780.2	+	4	910	c.701G>A	c.(700-702)gGg>gAg	p.G234E	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	234						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCAGCCTGGGCCCCACAAC	0.617000													31	54					0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	20	470430	470430	+	Nonsense_Mutation	SNP	A	A	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr20:470430A>C	ENST00000217244.3	-	10	1092	c.717T>G	c.(715-717)taT>taG	p.Y239*	CSNK2A1_ENST00000400217.1_Nonsense_Mutation_p.Y103*|CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.Y239*|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.Y239*	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	239	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TTACCTGATCATAATTGTCAT	0.393000													9	57					0	0	1	0	0
FARSB	10056	broad.mit.edu	37	2	223507637	223507637	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:223507637G>A	ENST00000281828.6	-	3	465	c.202C>T	c.(202-204)Cct>Tct	p.P68S	FARSB_ENST00000536361.1_5'UTR	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	68					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	CTATTGGCAGGGACGTCAATT	0.388000													21	33					0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21687310	21687310	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr20:21687310C>T	ENST00000398485.2	+	2	575	c.521C>T	c.(520-522)aCt>aTt	p.T174I	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.T150I	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	174	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGCGTCACCACTCCCAACGTG	0.662000													61	57					0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28023530	28023530	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:28023530C>T	ENST00000375790.5	-	5	1125	c.693G>A	c.(691-693)ttG>ttA	p.L231L	MKX_ENST00000419761.1_Silent_p.L231L			Q8IYA7	MKX_HUMAN	mohawk homeobox	231					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TGACATGTCTCAAAGAGTCAT	0.478000													48	94					0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1746454	1746454	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:1746454C>T	ENST00000313288.4	+	15	2452	c.2346C>T	c.(2344-2346)atC>atT	p.I782I		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	782						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			ACGAGGAGATCGCCCAGGTCC	0.682000													9	6					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40395860	40395860	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:40395860T>G	ENST00000221347.6	-	15	7544	c.7537A>C	c.(7537-7539)Acg>Ccg	p.T2513P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2513	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACCTGGACCGTGATCACCCTG	0.652000													18	107					0	0	1	0	0
C1QC	714	broad.mit.edu	37	1	22974015	22974015	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:22974015C>T	ENST00000374639.3	+	3	595	c.477C>T	c.(475-477)acC>acT	p.T159T	C1QC_ENST00000374637.1_Silent_p.T159T|C1QC_ENST00000374640.4_Silent_p.T159T	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	159	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCAAGTTCACCTGCAAAGTCC	0.592000													13	58					0	0	1	0	0
CFAP221	200373	broad.mit.edu	37	2	120388191	120388191	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:120388191C>T	ENST00000602047.1	+	19	2031	c.919C>T	c.(919-921)Cac>Tac	p.H307Y	PCDP1_ENST00000413369.3_Missense_Mutation_p.H593Y			Q4G0U5	PCDP1_HUMAN		593						cilium	calmodulin binding					Colorectal(110;0.196)					ATTCTCTGTCCACAAGTCTTC	0.423000													12	26					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95765009	95765009	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:95765009C>T	ENST00000311106.3	-	2	430	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	PCSK1_ENST00000508626.1_Missense_Mutation_p.E18K|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	65					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAGTGATTTTCAAGTGAACCA	0.338000													18	23					0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672737	141672737	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:141672737G>A	ENST00000547270.1	-	1	836	c.753C>T	c.(751-753)tcC>tcT	p.S251S		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	251					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					AGCAGAAAAAGGAGACAAGAG	0.502000													46	93					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139399982	139399982	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:139399982C>T	ENST00000277541.6	-	25	4441	c.4366G>A	c.(4366-4368)Gag>Aag	p.E1456K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1456					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCGCGTCCTCCTGGCACTCG	0.667000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			20	14					0	0	1	0	0
GLRX3	10539	broad.mit.edu	37	10	131959074	131959074	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:131959074C>T	ENST00000368644.1	+	4	313	c.291C>T	c.(289-291)atC>atT	p.I97I	GLRX3_ENST00000331244.5_Silent_p.I97I	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	97	Thioredoxin.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		CTCAGAAAATCGACCGATTAG	0.378000													25	12					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21991238	21991238	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:21991238C>A	ENST00000594012.1	-	7	2097	c.1583G>T	c.(1582-1584)gGa>gTa	p.G528V	ZNF43_ENST00000595461.1_Missense_Mutation_p.G528V|ZNF43_ENST00000354959.4_Missense_Mutation_p.G534V|ZNF43_ENST00000598381.1_Missense_Mutation_p.G528V	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GGGTTTCTCTCCAGTATGAGT	0.363000													12	64					2.27111e-07	2.28306e-07	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34276406	34276406	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:34276406G>A	ENST00000373381.4	-	10	1560	c.1384C>T	c.(1384-1386)Ccc>Tcc	p.P462S	CSMD2_ENST00000338325.1_Missense_Mutation_p.P19S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	422	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TACTGAATGGGGAAATTGGGG	0.542000													28	84					0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234402192	234402192	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:234402192G>A	ENST00000251722.6	-	25	2910	c.2793C>T	c.(2791-2793)ttC>ttT	p.F931F	USP40_ENST00000409945.1_Silent_p.F107F|USP40_ENST00000450966.1_Silent_p.F943F|USP40_ENST00000427112.2_Silent_p.F931F			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	931					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GCACCTTCAGGAAACCCTGAA	0.458000													11	11					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76415947	76415947	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr13:76415947C>G	ENST00000357063.3	+	25	5275	c.4015C>G	c.(4015-4017)Cag>Gag	p.Q1339E	LMO7_ENST00000321797.8_Missense_Mutation_p.Q1054E|LMO7_ENST00000341547.4_Missense_Mutation_p.Q1005E|LMO7_ENST00000377534.3_Missense_Mutation_p.Q1339E|LMO7_ENST00000465261.2_Missense_Mutation_p.Q1054E|LMO7_ENST00000526202.1_Missense_Mutation_p.Q931E			Q8WWI1	LMO7_HUMAN	LIM domain 7	1339						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAAGAAGCCGCAGGATCAGCT	0.527000													16	70					0	0	1	0	0
ZNF641	121274	broad.mit.edu	37	12	48738482	48738482	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:48738482G>A	ENST00000544117.2	-	5	1170	c.462C>T	c.(460-462)ccC>ccT	p.P154P	ZNF641_ENST00000301042.3_Silent_p.P154P|ZNF641_ENST00000547026.1_Silent_p.P140P|ZNF641_ENST00000448928.3_Silent_p.P131P			Q96N77	ZN641_HUMAN	zinc finger protein 641	154	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TGTCCAGTTTGGGAATTGGAA	0.408000													28	42					0	0	1	0	0
UGT1A8	54576	broad.mit.edu	37	2	234526430	234526430	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:234526430G>A	ENST00000373450.4	+	1	140	c.77G>A	c.(76-78)gGg>gAg	p.G26E		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCTGAGGCAGGGAAGCTGCTG	0.582000													37	58					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53986346	53986346	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:53986346C>T	ENST00000514921.1	+	2	278	c.165C>T	c.(163-165)ttC>ttT	p.F55F	MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000358276.5_Silent_p.F49F|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000502396.1_Silent_p.F66F|MLIP_ENST00000274897.5_Silent_p.F55F			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	55						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CCTCTAAATTCCTTGTTAAAA	0.358000													25	55					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391526	139391526	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:139391526G>A	ENST00000277541.6	-	34	6740	c.6665C>T	c.(6664-6666)cCg>cTg	p.P2222L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2222					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.K2182fs*61(1)|p.S2163_T2283del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGCTGGAACGGGGAGGGCAG	0.687000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			17	27					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73566026	73566026	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:73566026C>T	ENST00000224721.6	+	56	8186	c.8181C>T	c.(8179-8181)ttC>ttT	p.F2727F	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.F482F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2722					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AACCCCTTTTCGTGAGGCCTC	0.602000													4	2					0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330300	125330300	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:125330300G>A	ENST00000304865.2	-	1	538	c.457C>T	c.(457-459)Cct>Tct	p.P153S		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGGAGGTGAGGAAATGAGCAG	0.547000													30	54					0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49898218	49898218	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:49898218G>A	ENST00000477224.1	-	8	1184	c.706C>T	c.(706-708)Ctc>Ttc	p.L236F	CAMKV_ENST00000467248.1_Missense_Mutation_p.L161F|CAMKV_ENST00000466940.1_Missense_Mutation_p.L193F|CAMKV_ENST00000463537.1_Missense_Mutation_p.L236F|CAMKV_ENST00000296471.7_Missense_Mutation_p.L208F|CAMKV_ENST00000488336.1_Missense_Mutation_p.L236F			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	236	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TTGCGGAAGAGATTCTTATCA	0.498000													62	129					0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238726726	238726726	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:238726726G>A	ENST00000316997.4	+	3	1299	c.1167G>A	c.(1165-1167)tcG>tcA	p.S389S	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Silent_p.S389S	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	388							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TTGATGATTCGATAATTTCTG	0.388000													36	50					0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195594947	195594947	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:195594947G>A	ENST00000333602.6	-	12	2794	c.2177C>T	c.(2176-2178)gCc>gTc	p.A726V	TNK2_ENST00000428187.1_Missense_Mutation_p.A758V|TNK2_ENST00000392400.1_Missense_Mutation_p.A726V|TNK2_ENST00000381916.2_Missense_Mutation_p.A804V	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	726	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GGGAGAGGGGGCCGGGGAGCC	0.721000													7	8					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128494698	128494698	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:128494698G>A	ENST00000325888.8	+	41	7220	c.6959G>A	c.(6958-6960)gGa>gAa	p.G2320E	FLNC_ENST00000346177.6_Missense_Mutation_p.G2287E|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2320					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGCGGGCCGGAGGCACAGGG	0.677000													23	16					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39781267	39781267	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:39781267C>T	ENST00000564288.1	+	27	4130	c.3353C>T	c.(3352-3354)cCa>cTa	p.P1118L	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.P1155L|MACF1_ENST00000545844.1_Missense_Mutation_p.P1123L|MACF1_ENST00000317713.7_Missense_Mutation_p.P1123L|MACF1_ENST00000361689.2_Missense_Mutation_p.P1123L|MACF1_ENST00000539005.1_Missense_Mutation_p.P1123L|MACF1_ENST00000372915.3_Missense_Mutation_p.P1123L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1123					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATCAGTCTCCATCTAGTTCA	0.458000													39	67					0	0	1	0	0
SOX10	6663	broad.mit.edu	37	22	38373874	38373874	+	Splice_Site	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr22:38373874C>T	ENST00000396884.2	-	3	979	c.697_splice	c.e3+1	p.G233_splice	SOX10_ENST00000360880.2_Splice_Site_p.G233_splice|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	233						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CAGCACTCACCTGAGGGGTGC	0.642000													17	44					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100189396	100189396	+	Silent	SNP	G	G	A	rs142866619	byFrequency	TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:100189396G>A	ENST00000241071.6	+	4	751	c.429G>A	c.(427-429)aaG>aaA	p.K143K	FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000360609.2_Silent_p.K129K|FBXO24_ENST00000427939.2_Silent_p.K181K|FBXO24_ENST00000465843.1_Silent_p.K129K|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Silent_p.K131K	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	143						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCCCACCAAGGATCACGTCT	0.607000													66	94					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64022912	64022912	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:64022912C>T	ENST00000540288.1	+	6	615	c.512C>T	c.(511-513)cCc>cTc	p.P171L	PLCB3_ENST00000279230.6_Missense_Mutation_p.P171L|PLCB3_ENST00000325234.5_Missense_Mutation_p.P104L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	171					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GGTCGGATCCCCGTCAAGAAG	0.607000													27	100					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22939966	22939966	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:22939966G>A	ENST00000397104.3	-	6	2364	c.2365C>T	c.(2365-2367)Ctt>Ttt	p.L789F						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)				TGTCTAGTAAGGTGTGAGGAC	0.373000													8	55					0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56435335	56435335	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:56435335G>T	ENST00000584437.1	-	8	3757	c.1802C>A	c.(1801-1803)tCc>tAc	p.S601Y	RNF43_ENST00000577625.1_Missense_Mutation_p.S474Y|RNF43_ENST00000577716.1_Missense_Mutation_p.S601Y|RNF43_ENST00000581868.1_Missense_Mutation_p.S474Y|RNF43_ENST00000407977.2_Missense_Mutation_p.S601Y|RNF43_ENST00000583753.1_Missense_Mutation_p.S560Y|RNF43_ENST00000500597.2_Missense_Mutation_p.S560Y|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	601	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCTGAGTTGGATCTGGTGAC	0.657000													43	109					7.63091e-17	7.75268e-17	1	1	0
PRM2	5620	broad.mit.edu	37	16	11369782	11369782	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr16:11369782C>T	ENST00000435245.2	-	2	437	c.328G>A	c.(328-330)Gga>Aga	p.G110R	RMI2_ENST00000572173.1_Intron|PRM2_ENST00000241808.4_Missense_Mutation_p.R95K			P04554	PRM2_HUMAN	protamine 2	30					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						TGTTCTCTTCCTGGTTCTGCA	0.547000													11	20					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160807914	160807914	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:160807914G>A	ENST00000283243.7	-	24	3683	c.3477C>T	c.(3475-3477)tcC>tcT	p.S1159S	PLA2R1_ENST00000392771.1_Silent_p.S1159S	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1159	C-type lectin 7.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.S1159S(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CAGTGAGGAAGGACTGGTGAT	0.438000													24	86					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20495390	20495390	+	RNA	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:20495390C>T	ENST00000555186.1	+	0	593					NR_038836.1																						GAGAAAGTTTCAAGATCTTCT	0.413000													16	94					0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85331371	85331371	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:85331371C>T	ENST00000440886.1	-	1	471	c.433G>A	c.(433-435)Gtg>Atg	p.V145M	LPAR3_ENST00000491034.1_Splice_Site|LPAR3_ENST00000370611.3_Missense_Mutation_p.V145M			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	145					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AGCAGTGTCACCCTCTTTTTG	0.537000													113	224					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89429874	89429874	+	RNA	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:89429874C>T	ENST00000532352.1	+	0	1859							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATTAGGGTTACCAGACAGACC	0.294000													16	19					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79409762	79409762	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:79409762C>T	ENST00000307745.7	+	9	1387	c.1387C>T	c.(1387-1389)Ccc>Tcc	p.P463S																								GGCCCTCAACCCCCGGCTAAA	0.667000													9	13					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701421	56701421	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:56701421G>A	ENST00000586855.2	-	5	1576	c.1263C>T	c.(1261-1263)gcC>gcT	p.A421A	ZSCAN5B_ENST00000358992.3_Silent_p.A421A			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	421					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGGACTCGTGGGCGAACCGCT	0.567000													19	39					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5968604	5968604	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:5968604T>A	ENST00000329564.6	+	1	35	c.28T>A	c.(28-30)Tcc>Acc	p.S10T		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACACCCTCTCCACTGAAGC	0.453000													30	12					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76075437	76075437	+	RNA	SNP	G	G	A	rs62028907	by1000genomes	TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:76075437G>A	ENST00000395215.3	+	0	1077																											AAGACGCTACGGGAGCAGGGT	0.607000													8	181					0	0	1	0	0
UPP1	7378	broad.mit.edu	37	7	48146999	48146999	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:48146999A>G	ENST00000331803.4	+	9	1311	c.688A>G	c.(688-690)Aag>Gag	p.K230E	UPP1_ENST00000395564.4_Missense_Mutation_p.K230E|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Missense_Mutation_p.K230E|UPP1_ENST00000429491.2_Missense_Mutation_p.K93E			Q16831	UPP1_HUMAN	uridine phosphorylase 1	230					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						CTACACGGAGAAGGACAAGCA	0.592000													47	56					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600221	29600221	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr13:29600221G>A	ENST00000431530.3	+	1	1474	c.1416G>A	c.(1414-1416)ggG>ggA	p.G472G		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	462						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGGGCAGTGGGAATAAGGACA	0.502000													17	41					0	0	1	0	0
FAM13B	51306	broad.mit.edu	37	5	137289908	137289908	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:137289908G>A	ENST00000033079.3	-	14	2050	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	FAM13B_ENST00000425075.2_Silent_p.F437F|FAM13B_ENST00000420893.2_Silent_p.F533F	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	533					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						GATCATGTAGGAAACGCTGGC	0.403000													22	60					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856119	12856119	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:12856119G>A	ENST00000332296.7	+	4	1502	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.E222K	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	467										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCGTCTGAGGAACTGGAGCT	0.547000													11	114					0	0	1	0	0
JMY	133746	broad.mit.edu	37	5	78587109	78587109	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:78587109C>T	ENST00000396137.4	+	4	1976	c.1514C>T	c.(1513-1515)gCa>gTa	p.A505V		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	505	Interaction with p300/EP300 (By similarity).				'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)		CGGAAACATGCACTAAAGGAA	0.358000													21	44					0	0	1	0	0
PGC	5225	broad.mit.edu	37	6	41712480	41712480	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:41712480G>A	ENST00000373025.3	-	2	188	c.126C>T	c.(124-126)ttC>ttT	p.F42F	PGC_ENST00000425343.2_Silent_p.F42F	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	42					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GGGTCCTCAGGAACTCCCCCA	0.532000													13	27					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391527	139391527	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:139391527G>A	ENST00000277541.6	-	34	6739	c.6664C>T	c.(6664-6666)Ccg>Tcg	p.P2222S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2222					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.K2182fs*61(1)|p.S2163_T2283del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCTGGAACGGGGAGGGCAGC	0.687000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			17	27					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178634626	178634626	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:178634626T>C	ENST00000251582.7	-	4	880	c.779A>G	c.(778-780)cAt>cGt	p.H260R	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.H260R	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	260					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTCCGCAGCATGCCTGCGTGC	0.642000													52	89					0	0	1	0	0
TDG	6996	broad.mit.edu	37	12	104373722	104373722	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:104373722A>T	ENST00000392872.3	+	3	514	c.280A>T	c.(280-282)Aaa>Taa	p.K94*	TDG_ENST00000544861.1_5'UTR|TDG_ENST00000266775.9_Nonsense_Mutation_p.K90*	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	94					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		ATCAAAAGAAAAACAAGAAAA	0.348000								Base excision repair (BER), DNA glycosylases					7	92					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140220944	140220944	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:140220944G>A	ENST00000531613.1	+	1	38	c.38G>A	c.(37-39)cGa>cAa	p.R13Q	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R13Q|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCCTGGCGACTACTACTC	0.512000													36	64					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415686	86415686	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:86415686C>T	ENST00000361669.2	+	3	1677	c.578C>T	c.(577-579)cCc>cTc	p.P193L	AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.P65L|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.P193L|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.P191L	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	193					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ACCGTGCCCCCCGACTTCTAC	0.572000													58	161					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9017514	9017514	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:9017514C>T	ENST00000397910.4	-	26	38013	c.37810G>A	c.(37810-37812)Gag>Aag	p.E12604K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12606	SEA 4.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCATCCTTCTCGGACCTGAGG	0.527000													42	18					0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79662080	79662080	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:79662080C>T	ENST00000329138.4	+	13	1237	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	368	Interaction with SNX1 (By similarity).|Pro-rich.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GCACGCAGCCCCCACCAACGT	0.682000													31	50					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21971084	21971084	+	Splice_Site	SNP	C	C	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:21971084C>G	ENST00000261200.4	-	30	3770	c.3771_splice	c.e30+1	p.T1257_splice	ABCC9_ENST00000345162.2_Splice_Site_p.T1221_splice|ABCC9_ENST00000261201.4_Splice_Site_p.T1257_splice	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1257	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.T1257T(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCATACCTACCGTAAGTGCAT	0.418000													31	89					0	0	1	0	0
TNPO1	3842	broad.mit.edu	37	5	72173169	72173169	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:72173169C>T	ENST00000337273.5	+	9	1342	c.916C>T	c.(916-918)Cct>Tct	p.P306S	TNPO1_ENST00000447967.2_3'UTR|TNPO1_ENST00000454282.1_Missense_Mutation_p.P256S|TNPO1_ENST00000523768.1_Missense_Mutation_p.P256S|TNPO1_ENST00000506351.2_Missense_Mutation_p.P298S	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	306					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AAGGCATCTTCCTAAGTAAGT	0.338000													22	45					0	0	1	0	0
EBLN2	55096	broad.mit.edu	37	3	73111848	73111848	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:73111848C>T	ENST00000533473.1	+	1	1039	c.616C>T	c.(616-618)Ctc>Ttc	p.L206F	PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000356692.5_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	206							protein binding			endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						CACCAGCAGTCTCCAAGTTCA	0.458000													40	54					0	0	1	0	0
CEACAM4	1089	broad.mit.edu	37	19	42132129	42132129	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:42132129G>A	ENST00000221954.2	-	2	380	c.270C>T	c.(268-270)atC>atT	p.I90I	CEACAM4_ENST00000600925.1_Silent_p.I90I	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	90	Ig-like V-type.					integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CGGCCCCTGGGATATTTGCTT	0.478000													33	141					0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138661967	138661967	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:138661967A>T	ENST00000394800.2	+	18	3180	c.2631A>T	c.(2629-2631)aaA>aaT	p.K877N	MATR3_ENST00000394805.3_Missense_Mutation_p.K829N|MATR3_ENST00000510056.1_Intron|MATR3_ENST00000509990.1_Missense_Mutation_p.K829N|MATR3_ENST00000502499.1_Missense_Mutation_p.K491N|MATR3_ENST00000503811.1_Missense_Mutation_p.K541N|MATR3_ENST00000504203.1_Missense_Mutation_p.K491N|MATR3_ENST00000361059.2_Missense_Mutation_p.K829N|MATR3_ENST00000502929.1_Missense_Mutation_p.K877N			P43243	MATR3_HUMAN	matrin 3	829						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATTATCAGAAATTAAAGGTAA	0.323000													26	45					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154157566	154157566	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:154157566G>T	ENST00000360256.4	-	14	4699	c.4499C>A	c.(4498-4500)cCg>cAg	p.P1500Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1500	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTCTGGTTTCGGGAGAACAGT	0.448000													51	13					3.21987e-24	3.28875e-24	1	1	0
ADCYAP1R1	117	broad.mit.edu	37	7	31123775	31123775	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:31123775G>A	ENST00000304166.4	+	7	637	c.348G>A	c.(346-348)cgG>cgA	p.R116R	ADCYAP1R1_ENST00000396211.2_Silent_p.R116R|ADCYAP1R1_ENST00000409363.1_Silent_p.R95R|ADCYAP1R1_ENST00000409489.1_Silent_p.R116R	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	116					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGGTGAGCCGGAACTGCACGG	0.483000													33	52					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193016960	193016960	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:193016960G>A	ENST00000342358.4	-	25	2925	c.2808C>T	c.(2806-2808)ctC>ctT	p.L936L	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	936					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CATCTTGCATGAGATACTGGT	0.308000													19	31					0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130992377	130992377	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:130992377C>T	ENST00000383366.4	+	17	1970	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F	NEK11_ENST00000510688.1_Intron|NEK11_ENST00000510769.1_Silent_p.F454F|NEK11_ENST00000508196.1_Silent_p.F559F|NEK11_ENST00000429253.2_Silent_p.F559F|NEK11_ENST00000412440.2_Silent_p.F375F	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	559					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CACCAATTTTCAACAGTGTGA	0.478000													16	38					0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23817427	23817427	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:23817427C>A	ENST00000354772.3	-	6	1284	c.781G>T	c.(781-783)Gag>Tag	p.E261*	SLC22A17_ENST00000397260.3_Nonsense_Mutation_p.E150*|SLC22A17_ENST00000397267.1_Nonsense_Mutation_p.E261*|SLC22A17_ENST00000206544.8_Nonsense_Mutation_p.E261*|SLC22A17_ENST00000474057.1_5'UTR	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	261					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CGGTTTCGCTCAGCCAGGATC	0.632000													35	53					8.73648e-17	8.86018e-17	1	1	0
ST5	6764	broad.mit.edu	37	11	8752548	8752548	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:8752548C>T	ENST00000534127.1	-	6	674	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	ST5_ENST00000526757.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.A97T|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.A97T	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	97					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CCGAAGCTGGCGGTCTTGAAG	0.612000													4	79					0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26883892	26883892	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:26883892G>A	ENST00000308360.7	-	9	1408	c.1033C>T	c.(1033-1035)Cca>Tca	p.P345S	PIGS_ENST00000395346.2_Missense_Mutation_p.P337S|PIGS_ENST00000543734.1_Missense_Mutation_p.P284S	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	345					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GTGGCCACTGGAGCGCCATCC	0.562000													19	21					0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101005784	101005784	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:101005784C>T	ENST00000539410.1	+	5	696	c.310C>T	c.(310-312)Cca>Tca	p.P104S	GAS2L3_ENST00000547754.1_Missense_Mutation_p.P104S|GAS2L3_ENST00000537247.1_5'UTR|GAS2L3_ENST00000266754.5_Missense_Mutation_p.P104S			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	104	CH.				cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCAGAATTTTCCAATGAGAAA	0.353000													31	57					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117708985	117708985	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:117708985C>T	ENST00000368508.3	-	13	2170	c.1972G>A	c.(1972-1974)Ggc>Agc	p.G658S	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.G653S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	658	Fibronectin type-III 3.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GACCAGGGGCCTGGCCTCTTT	0.478000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								51	52					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9536216	9536216	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:9536216G>A	ENST00000352665.5	+	10	1255	c.1186G>A	c.(1186-1188)Ggt>Agt	p.G396S	WDR16_ENST00000299764.5_Missense_Mutation_p.G406S|WDR16_ENST00000396219.3_Missense_Mutation_p.G328S	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	396						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ATGGAACGACGGTAAAATCCG	0.557000													39	27					0	0	1	0	0
ABI3	51225	broad.mit.edu	37	17	47299945	47299945	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:47299945G>A	ENST00000225941.1	+	8	1467	c.969G>A	c.(967-969)aaG>aaA	p.K323K	ABI3_ENST00000419580.2_Silent_p.K317K	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	323	SH3.				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CCAGCCAGAAGGACAATGAGC	0.597000										HNSCC(55;0.14)			17	38					0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431966	56431966	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:56431966G>A	ENST00000302969.2	+	1	829	c.805G>A	c.(805-807)Gac>Aac	p.D269N		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CTACTCCCTGGACCAAGACAA	0.488000													35	47					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350642	100350642	+	RNA	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:100350642C>T	ENST00000542585.1	+	0	3062				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATCCCCACGGAAAA	0.527000													82	149					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	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				65	55					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179733897	179733897	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:179733897C>T	ENST00000420890.2	-	15	2458	c.2341G>A	c.(2341-2343)Gat>Aat	p.D781N	CCDC141_ENST00000295723.5_Missense_Mutation_p.D206N	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	206							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCCTCGTAATCCTGGATTCTC	0.418000													37	44					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43360327	43360327	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:43360327C>T	ENST00000395891.1	+	5	1051	c.446C>T	c.(445-447)tCg>tTg	p.S149L	HECW1_ENST00000453890.1_Missense_Mutation_p.S149L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	149					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GATGCCAGCTCGTACTTTGTG	0.448000													20	48					0	0	1	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29231392	29231392	+	RNA	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:29231392C>T	ENST00000441381.1	+	0	79																											GGGAAAGTATCATGCAATTAG	0.478000													71	147					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73205313	73205313	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:73205313G>A	ENST00000545377.1	+	34	4414	c.4238G>A	c.(4237-4239)gGc>gAc	p.G1413D	ARHGEF28_ENST00000296799.4_Missense_Mutation_p.G1100D|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.G1369D|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.G1413D|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.G1413D|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.G1413D|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.G333D|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.G1413D	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		CTGTCTCTCGGCCACTCTATC	0.607000													13	17					0	0	1	0	0
OR7G3	390883	broad.mit.edu	37	19	9237504	9237504	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:9237504C>T	ENST00000305444.2	-	1	122	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TGAGCAGGTTCCCCAGCATTG	0.542000													61	44					0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150498808	150498808	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:150498808C>T	ENST00000484928.1	+	2	751	c.170C>T	c.(169-171)tCg>tTg	p.S57L	TMEM176A_ENST00000004103.3_Missense_Mutation_p.S57L|TMEM176A_ENST00000461345.1_Intron			Q96HP8	T176A_HUMAN	transmembrane protein 176A	57						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGTGGCCTCGTGGGTGAGT	0.716000													7	13					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181105	57181105	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:57181105C>T	ENST00000504228.1	+	6	1542	c.1437C>T	c.(1435-1437)ccC>ccT	p.P479P	KIAA1211_ENST00000541073.1_Silent_p.P472P|KIAA1211_ENST00000264229.6_Silent_p.P479P			Q6ZU35	K1211_HUMAN	KIAA1211	479	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GTCCTGGGCCCGAGGAAAAGA	0.652000													3	1					0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161130935	161130935	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:161130935C>T	ENST00000368002.3	+	3	882	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	USP21_ENST00000368001.1_Silent_p.L169L|USP21_ENST00000289865.8_Silent_p.L169L	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	169					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ACCCCCTACCCTGTTCAGCAT	0.612000													25	43					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167379611	167379611	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:167379611G>A	ENST00000519204.1	+	3	486	c.368G>A	c.(367-369)aGc>aAc	p.S123N	TENM2_ENST00000520394.1_Missense_Mutation_p.S53N|TENM2_ENST00000545108.1_Missense_Mutation_p.S244N|TENM2_ENST00000403607.2_Missense_Mutation_p.S77N|TENM2_ENST00000518659.1_Missense_Mutation_p.S244N|TENM2_ENST00000520393.1_3'UTR|CTC-353G13.1_ENST00000523050.1_RNA					teneurin transmembrane protein 2																		AACCACCACAGCCAGTCGACT	0.547000													4	14					0	0	1	0	0
NADK	65220	broad.mit.edu	37	1	1686902	1686902	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:1686902G>A	ENST00000344463.4	-	9	1255	c.1034C>T	c.(1033-1035)cCg>cTg	p.P345L	NADK_ENST00000341991.3_Missense_Mutation_p.P200L|NADK_ENST00000342348.5_Missense_Mutation_p.P168L|NADK_ENST00000341426.5_Missense_Mutation_p.P200L|NADK_ENST00000378625.1_Missense_Mutation_p.P345L			O95544	NADK_HUMAN	NAD kinase	200					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	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;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GGCCATGACCGGAGGGACGCT	0.617000													51	107					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113532927	113532927	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:113532927C>T	ENST00000257600.3	+	7	1970	c.1467C>T	c.(1465-1467)ttC>ttT	p.F489F	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	489					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AGATGGAGTTCCACCTCATCC	0.652000													38	48					0	0	1	0	0
ELOVL2	54898	broad.mit.edu	37	6	10990062	10990062	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:10990062G>A	ENST00000354666.3	-	7	722	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	213					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TGGTGAGCACGAACTGCACCT	0.547000													25	69					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105509456	105509456	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:105509456C>T	ENST00000276654.5	-	5	1432	c.1324G>A	c.(1324-1326)Ggc>Agc	p.G442S	LRP12_ENST00000424843.2_Missense_Mutation_p.G423S	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	442	LDL-receptor class A 4.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCATCTGAGCCATTTGGGCAA	0.403000													42	80					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180044257	180044257	+	Missense_Mutation	SNP	C	C	T	rs148196085	byFrequency	TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:180044257C>T	ENST00000367607.3	+	28	6086	c.5668C>T	c.(5668-5670)Cgt>Tgt	p.R1890C		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1890						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGCAGAAATTCGTCAAATGGA	0.438000													7	18					0	0	1	0	0
SPDYE4	388333	broad.mit.edu	37	17	8658901	8658901	+	Missense_Mutation	SNP	G	G	A	rs74844184	by1000genomes	TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:8658901G>A	ENST00000328794.6	-	4	598	c.422C>T	c.(421-423)gCg>gTg	p.A141V		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	141										breast(1)|endometrium(2)|kidney(1)	4						GCTAAAATACGCTATGACCAT	0.483000													6	133					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158654955	158654955	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:158654955G>A	ENST00000368148.3	-	2	387	c.207C>T	c.(205-207)atC>atT	p.I69I	SPTA1_ENST00000368147.3_Silent_p.I69I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	69					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	p.I69I(1)		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)					CTTTCTCCATGATCCACTtcc	0.448000													29	63					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113302262	113302262	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:113302262G>A	ENST00000264852.4	+	7	1480	c.754G>A	c.(754-756)Gat>Aat	p.D252N	SIDT1_ENST00000393830.3_Missense_Mutation_p.D252N	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	252						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GCAGAAGAAGGATTTTCCAGG	0.458000													10	31					0	0	1	0	0
UBE2Z	65264	broad.mit.edu	37	17	47004478	47004478	+	Silent	SNP	T	T	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:47004478T>C	ENST00000360943.5	+	7	1182	c.1047T>C	c.(1045-1047)caT>caC	p.H349H		NM_023079.4	NP_075567.2	Q9H832	UBE2Z_HUMAN	ubiquitin-conjugating enzyme E2Z	349					apoptosis	cytoplasm|nucleus	ATP binding|ubiquitin-protein ligase activity										CAGACCTTCATGGGAGCCTGA	0.557000													13	20					0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45891085	45891085	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:45891085C>T	ENST00000443527.2	+	7	996	c.974C>T	c.(973-975)tCc>tTc	p.S325F	CRY2_ENST00000417225.2_Missense_Mutation_p.S243F	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	304	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CCTCCCCTCTCCCTATTTGGG	0.562000													19	77					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29296429	29296429	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:29296429C>A	ENST00000331664.5	-	1	698	c.699G>T	c.(697-699)ttG>ttT	p.L233F		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	233					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AGATCTCCCCCAACAGCTGGC	0.567000													23	71					9.95505e-16	1.00604e-15	1	1	0
ZNF662	389114	broad.mit.edu	37	3	42956252	42956252	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:42956252C>T	ENST00000541208.1	+	5	1056	c.687C>T	c.(685-687)ttC>ttT	p.F229F	ZNF662_ENST00000440367.2_Silent_p.F229F|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Silent_p.F255F			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GGAAGGCTTTCAGTTTTCGAT	0.413000													23	108					0	0	1	0	0
MAFB	9935	broad.mit.edu	37	20	39316997	39316997	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr20:39316997T>C	ENST00000373313.2	-	1	883	c.494A>G	c.(493-495)cAt>cGt	p.H165R	MAFB_ENST00000396967.1_Missense_Mutation_p.H165R	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	165	Poly-His.				negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				TTGGTGATGATGGTGATGGTG	0.756000			T	IGH@	MM								6	3					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	441409	441409	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:441409G>A	ENST00000432829.2	+	41	5459	c.5143G>A	c.(5143-5145)Gtt>Att	p.V1715I	DOCK8_ENST00000469391.1_Missense_Mutation_p.V1683I|DOCK8_ENST00000382329.1_Missense_Mutation_p.V1250I|DOCK8_ENST00000453981.1_Missense_Mutation_p.V1783I	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1783	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CGACAGCATCGTTAACAAGGT	0.567000													19	46					0	0	1	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62885866	62885866	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:62885866A>C	ENST00000253401.6	-	7	1756	c.956T>G	c.(955-957)cTg>cGg	p.L319R	ARHGEF9_ENST00000437457.2_Missense_Mutation_p.L266R|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.L217R|ARHGEF9_ENST00000433323.2_Intron|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.L317R|ARHGEF9_ENST00000495564.1_Intron|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.L298R	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	319	PH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						AGTGTAGATCAGCTCCGAGCT	0.592000													23	15					0	0	1	0	0
ELP3	55140	broad.mit.edu	37	8	27989810	27989810	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:27989810G>A	ENST00000256398.8	+	9	1172	c.795G>A	c.(793-795)aaG>aaA	p.K265K	ELP3_ENST00000537665.1_Silent_p.K146K|ELP3_ENST00000380353.4_Silent_p.K173K|ELP3_ENST00000524103.1_Silent_p.K193K|ELP3_ENST00000521015.1_Silent_p.K251K|ELP3_ENST00000542181.1_Silent_p.K136K	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	265				K -> M (in Ref. 1; BAB14138).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		ACACTGTGAAGGCAGTGTGTG	0.433000													15	29					0	0	1	0	0
SLC25A41	284427	broad.mit.edu	37	19	6432083	6432083	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:6432083C>T	ENST00000321510.6	-	2	408	c.340G>A	c.(340-342)Gac>Aac	p.D114N		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	114					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						TTGGCTCTGTCCAGAGGTGCC	0.612000													25	15					0	0	1	0	0
DDX50	79009	broad.mit.edu	37	10	70703013	70703013	+	Splice_Site	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:70703013G>A	ENST00000373585.3	+	14	2042	c.1935_splice	c.e14+1	p.Q645_splice	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	645						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AAAGGTTACAGGTATTTTTAA	0.294000													16	42					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488755	20488755	+	RNA	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:20488755G>A	ENST00000555186.1	+	0	238					NR_038836.1																						TTAGATTACTGATTTTGGGCA	0.398000													12	72					0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76231053	76231053	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:76231053T>C	ENST00000298832.9	+	19	1851	c.1646T>C	c.(1645-1647)cTg>cCg	p.L549P	TTLL5_ENST00000556893.1_Missense_Mutation_p.L100P|TTLL5_ENST00000554510.1_Missense_Mutation_p.L58P|TTLL5_ENST00000557636.1_Missense_Mutation_p.L563P|TTLL5_ENST00000555422.1_3'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	549					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTCCTGTCTCTGGAGGTGCGA	0.502000													47	70					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193049065	193049065	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:193049065G>A	ENST00000342358.4	-	12	1425	c.1308C>T	c.(1306-1308)atC>atT	p.I436I		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	436					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CGGTGAGGAGGATCAGGGCCA	0.512000													22	38					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89891358	89891358	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:89891358G>A	ENST00000534061.1	+	7	1072	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.R281Q|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	281	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGAATCCCCCGAATACCTGTA	0.313000													55	49					0	0	1	0	0
KLHL28	54813	broad.mit.edu	37	14	45414960	45414960	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:45414960G>A	ENST00000396128.4	-	2	291	c.172C>T	c.(172-174)Ccg>Tcg	p.P58S	KLHL28_ENST00000355081.2_Missense_Mutation_p.P72S	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	58	BTB.									breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTGAAATACGGGCTGACGCTG	0.428000													39	69					0	0	1	0	0
LRRC4	64101	broad.mit.edu	37	7	127669886	127669886	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:127669886C>T	ENST00000249363.3	-	2	1065	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	270						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		AAGTTGAGTTCCACAAGTGAA	0.532000													49	62					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31305314	31305314	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:31305314C>T	ENST00000265071.2	+	7	1298	c.1033C>T	c.(1033-1035)Ctt>Ttt	p.L345F	CDH6_ENST00000514738.1_Missense_Mutation_p.L290F	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	345	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGTGTATACCCTTAAAGTGGA	0.453000													24	57					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41561563	41561563	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:41561563C>T	ENST00000396942.1	-	20	2374	c.2291G>A	c.(2290-2292)aGc>aAc	p.S764N	ANK1_ENST00000347528.4_Missense_Mutation_p.S764N|ANK1_ENST00000265709.8_Missense_Mutation_p.S797N|ANK1_ENST00000379758.2_Missense_Mutation_p.S764N|ANK1_ENST00000396945.1_Missense_Mutation_p.S764N|ANK1_ENST00000352337.4_Missense_Mutation_p.S764N|ANK1_ENST00000289734.7_Missense_Mutation_p.S764N			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	764	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACTCACCGAGCTGACCTCGTT	0.547000													47	60					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295729	20295729	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:20295729G>A	ENST00000568211.1	+	1	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E	OR4N2_ENST00000315947.1_Missense_Mutation_p.G41E			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTCCCTGGAAATTTTCTC	0.448000													81	295					0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190922148	190922148	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:190922148G>A	ENST00000260950.4	-	3	1096	c.964C>T	c.(964-966)Cct>Tct	p.P322S	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	322					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TGAGTATGAGGATATTTTTGT	0.393000													23	42					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198704380	198704380	+	Splice_Site	SNP	A	A	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:198704380A>G	ENST00000367376.2	+	23	2567	c.2397_splice	c.e23+1	p.N799_splice	PTPRC_ENST00000442510.2_Splice_Site_p.N801_splice|PTPRC_ENST00000594404.1_Splice_Site_p.N638_splice|PTPRC_ENST00000352140.3_Splice_Site_p.N751_splice|PTPRC_ENST00000348564.6_Splice_Site_p.N640_splice	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	799	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AACATTGTAAATGTGAGTTTG	0.279000													19	56					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11666799	11666799	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:11666799G>A	ENST00000262442.3	+	36	7106	c.7038G>A	c.(7036-7038)caG>caA	p.Q2346Q	DNAH9_ENST00000454412.2_Silent_p.Q2346Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2346					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCATGGTTCAGATGGTGTGTC	0.483000													54	40					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29296428	29296428	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:29296428C>T	ENST00000331664.5	-	1	699	c.700G>A	c.(700-702)Ggg>Agg	p.G234R		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	234					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GAGATCTCCCCCAACAGCTGG	0.562000													21	71					0	0	1	0	0
NDFIP1	80762	broad.mit.edu	37	5	141511443	141511443	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:141511443T>A	ENST00000253814.4	+	2	604	c.134T>A	c.(133-135)aTt>aAt	p.I45N	NDFIP1_ENST00000509436.1_3'UTR	NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	45					cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAGCAGCATTTCTGCAGAG	0.398000													67	99					0	0	1	0	0
TMEM215	401498	broad.mit.edu	37	9	32784796	32784796	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:32784796C>T	ENST00000342743.5	+	2	980	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	205						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						ACAGTATCATCGTTTGCTCCT	0.502000													41	51					0	0	1	0	0
RWDD2B	10069	broad.mit.edu	37	21	30378954	30378954	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr21:30378954C>T	ENST00000493196.1	-	5	844	c.744G>A	c.(742-744)tgG>tgA	p.W248*	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	248										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						AAATTCTCTTCCAGTTTAATT	0.284000													11	19					0	0	1	0	0
TRBV30	28557	broad.mit.edu	37	7	142510476	142510476	+	RNA	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:142510476C>T	ENST00000417977.2	-	0	241																											TTTGATGTTCCCTCCACAGTG	0.572000													9	12					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16877063	16877063	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:16877063G>A	ENST00000377833.4	-	64	10377	c.10312C>T	c.(10312-10314)Cat>Tat	p.H3438Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3438	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCAAGTGAATGAAAAAAGAGG	0.428000													30	45					0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155264286	155264286	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:155264286C>T	ENST00000392414.3	-	6	972	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	PKLR_ENST00000342741.4_Missense_Mutation_p.E318K	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	318			F -> V (in PKRD).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	TTCACGCCTTCGTGGTTCTCA	0.582000													120	56					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248367283	248367283	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:248367283T>C	ENST00000456743.1	+	1	952	c.914T>C	c.(913-915)tTa>tCa	p.L305S		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGAAGATCTTAGGAAAGGGC	0.418000													52	112					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28224012	28224012	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:28224012C>T	ENST00000305242.5	-	16	2514	c.2422G>A	c.(2422-2424)Gga>Aga	p.G808R	ARMC4_ENST00000537576.1_Missense_Mutation_p.G500R|ARMC4_ENST00000545014.1_Missense_Mutation_p.G333R	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	808							binding	p.G808R(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGGTTTATTCCAACAAGGAGG	0.458000													50	115					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65289681	65289681	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:65289681C>T	ENST00000389722.3	-	1	185	c.132G>A	c.(130-132)cgG>cgA	p.R44R	SPTB_ENST00000556626.1_Silent_p.R44R|SPTB_ENST00000389720.3_Silent_p.R44R|SPTB_ENST00000542895.1_Silent_p.R44R|SPTB_ENST00000389721.5_Silent_p.R44R	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	44	Actin-binding.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGGCCTTTATCCGGGACCTCT	0.572000											OREG0022736	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	54					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156766193	156766193	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:156766193C>T	ENST00000347377.6	+	22	2945	c.2514C>T	c.(2512-2514)atC>atT	p.I838I	CYFIP2_ENST00000521420.1_Silent_p.I812I|CYFIP2_ENST00000318218.6_Silent_p.I863I|CYFIP2_ENST00000435847.2_Silent_p.I537I|CYFIP2_ENST00000522463.1_Silent_p.I642I|CYFIP2_ENST00000541131.1_Silent_p.I763I|CYFIP2_ENST00000377576.3_Silent_p.I838I|CYFIP2_ENST00000442283.2_Silent_p.I123I	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	863					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGGCCGTATCACCCTGCATG	0.562000													23	56					0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5461845	5461845	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:5461845C>T	ENST00000380211.1	-	1	899	c.900G>A	c.(898-900)gaG>gaA	p.E300E	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E300D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTTGCGGATCTCCTTGGTTT	0.473000													32	40					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81609793	81609793	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:81609793G>A	ENST00000541158.2	+	11	1713	c.1391G>A	c.(1390-1392)gGg>gAg	p.G464E	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.G464E			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	464					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TTCTGCATGGGGATGTACCTG	0.542000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						56	97					0	0	1	0	0
SNHG1	23642	broad.mit.edu	37	11	62620469	62620469	+	RNA	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:62620469G>A	ENST00000384756.1	-	0	38					NR_000008.2																						TCTGGGACTAGGACAGAGAGT	0.443000													33	49					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138732434	138732434	+	Missense_Mutation	SNP	G	G	A	rs141924548	byFrequency	TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:138732434G>A	ENST00000242351.5	-	13	2931	c.2615C>T	c.(2614-2616)tCg>tTg	p.S872L	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S994L	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	872	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GGAGGGATTCGATCTGGTATC	0.423000													94	101					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672471	186672471	+	Silent	SNP	T	T	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:186672471T>C	ENST00000343098.5	+	17	18705	c.18705T>C	c.(18703-18705)gtT>gtC	p.V6235V	FSIP2_ENST00000424728.1_Silent_p.V6146V	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GTGTGGAAGTTGAAAACATCG	0.393000													45	42					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52676362	52676362	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr13:52676362G>T	ENST00000355568.4	-	10	815	c.676C>A	c.(676-678)Ccg>Acg	p.P226T		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	226	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GAAAACCCCGGAGATATTGGG	0.423000													63	118					1.7104e-27	1.7501e-27	1	1	0
TSHZ1	10194	broad.mit.edu	37	18	72999314	72999314	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr18:72999314A>G	ENST00000322038.5	+	2	2401	c.1817A>G	c.(1816-1818)aAc>aGc	p.N606S	TSHZ1_ENST00000580243.1_Missense_Mutation_p.N651S	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	651						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N606S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGCAAGGTCAACATCAAGAAG	0.587000													22	41					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69692192	69692192	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:69692192G>A	ENST00000265403.7	+	4	1091	c.1064G>A	c.(1063-1065)tGg>tAg	p.W355*	UGT2B10_ENST00000458688.2_Nonsense_Mutation_p.W271*	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	355					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CTGTACAAGTGGATACCCCAG	0.393000													38	33					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201533398	201533398	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:201533398C>T	ENST00000374700.2	+	33	3911	c.3670C>T	c.(3670-3672)Ccc>Tcc	p.P1224S	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1224					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GAATTATTCTCCCCAGGGCAT	0.433000													15	62					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60742008	60742008	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:60742008C>T	ENST00000303375.5	+	2	620	c.218C>T	c.(217-219)cCt>cTt	p.P73L		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	73	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						ACCAGCCTCCCTGCCCAGCGC	0.647000													43	61					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510307	169510307	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:169510307G>A	ENST00000367796.3	-	13	4237	c.4036C>T	c.(4036-4038)Cca>Tca	p.P1346S	F5_ENST00000367797.3_Missense_Mutation_p.P1341S			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1341	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.P1341A(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTGAGTTCTGGAGAGAGGTTT	0.527000													94	208					0	0	1	0	0
PA2G4	5036	broad.mit.edu	37	12	56504991	56504991	+	Silent	SNP	T	T	C	rs74519150	byFrequency	TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:56504991T>C	ENST00000303305.6	+	11	1382	c.963T>C	c.(961-963)ttT>ttC	p.F321F	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	321	Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			AGTTTAAATTTACAGTTCTGC	0.443000													5	108					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66982433	66982433	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:66982433G>A	ENST00000340001.4	-	32	4291	c.4080C>T	c.(4078-4080)ccC>ccT	p.P1360P	ABCA9_ENST00000370732.2_Silent_p.P1360P|ABCA9_ENST00000453985.2_Silent_p.P1322P	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1360	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGAAGCCCAGGGGTTCCCCTC	0.517000													34	52					0	0	1	0	0
FYTTD1	84248	broad.mit.edu	37	3	197508692	197508692	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:197508692C>T	ENST00000428395.2	+	10	1029	c.596C>T	c.(595-597)aCg>aTg	p.T199M	FYTTD1_ENST00000424384.2_Missense_Mutation_p.T223M|FYTTD1_ENST00000415708.2_Missense_Mutation_p.T264M|FYTTD1_ENST00000492360.1_3'UTR|FYTTD1_ENST00000241502.3_Missense_Mutation_p.T290M	NM_001011537.2	NP_001011537.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	290					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		ACAGGGATGACGTTGAATGAG	0.418000													16	23					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51729165	51729165	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:51729165G>A	ENST00000436584.2	+	2	199	c.144G>A	c.(142-144)ccG>ccA	p.P48P	CD33_ENST00000421133.2_Silent_p.P48P|CD33_ENST00000391796.3_Silent_p.P175P|CD33_ENST00000262262.4_Silent_p.P175P			P20138	CD33_HUMAN	CD33 molecule	175	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GAACACCCCCGATCTTCTCCT	0.627000													34	52					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90500129	90500129	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:90500129C>T	ENST00000325643.5	+	4	793	c.727C>T	c.(727-729)Cct>Tct	p.P243S		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		TGTGGTTTTTCCTCCTTCACC	0.617000													55	67					0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104125257	104125257	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:104125257C>T	ENST00000259407.2	-	4	818	c.710G>A	c.(709-711)gGa>gAa	p.G237E	BAAT_ENST00000395051.3_Missense_Mutation_p.G237E	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	237					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	AATCTGTACTCCTTGACATAC	0.388000													33	63					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573667	38573667	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:38573667C>T	ENST00000222345.6	+	3	1971	c.1462C>T	c.(1462-1464)Cgg>Tgg	p.R488W		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	488					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GACGCAGAGTCGGCCCCGGCA	0.657000													8	31					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43965500	43965500	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:43965500T>G	ENST00000282406.4	+	20	3074	c.2964T>G	c.(2962-2964)aaT>aaG	p.N988K		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	988	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTTTTATAAATGCTGCAGTTG	0.363000													22	52					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49762735	49762735	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr13:49762735G>A	ENST00000492622.2	+	17	2215	c.1910G>A	c.(1909-1911)cGa>cAa	p.R637Q	FNDC3A_ENST00000541916.1_Missense_Mutation_p.R637Q|FNDC3A_ENST00000398316.3_Missense_Mutation_p.R581Q	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	637	Fibronectin type-III 4.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TATCGTTTACGAGTTTACTGC	0.413000													52	178					0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15894599	15894599	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:15894599C>T	ENST00000375847.3	+	15	2440	c.2276C>T	c.(2275-2277)tCt>tTt	p.S759F	DNAJC16_ENST00000375849.1_Intron|DNAJC16_ENST00000483270.1_3'UTR	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	759					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGCAAGCTCTCTTTATGGATG	0.488000													34	57					0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37416129	37416129	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:37416129C>T	ENST00000333987.7	+	4	610	c.104C>T	c.(103-105)tCc>tTc	p.S35F	ZNF568_ENST00000427117.1_Missense_Mutation_p.S35F|ZNF568_ENST00000415168.1_Intron|ZNF568_ENST00000455427.2_5'UTR	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGCCCTTTCCGAGGAAGAA	0.418000													16	28					0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862259	5862259	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:5862259G>A	ENST00000329322.5	-	1	868	c.869C>T	c.(868-870)cCt>cTt	p.P290L	OR52E6_ENST00000379946.2_Missense_Mutation_p.P294L|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATAGATTACAGGATTGAGGGT	0.413000													31	24					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890185	139890185	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:139890185C>T	ENST00000303045.6	-	3	912	c.466G>A	c.(466-468)Gac>Aac	p.D156N	COL22A1_ENST00000435777.1_Missense_Mutation_p.D156N	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	156	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGCACCAGGTCCTGGCTGCGG	0.721000										HNSCC(7;0.00092)			5	8					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47505115	47505115	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:47505115C>T	ENST00000371901.3	+	8	1234	c.984C>T	c.(982-984)atC>atT	p.I328I	CYP4X1_ENST00000538609.1_Silent_p.I327I|CYP4X1_ENST00000466294.1_3'UTR	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	328						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TCTCCTGGATCCTTTACTGCC	0.517000													27	62					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142654986	142654986	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:142654986C>A	ENST00000355265.2	-	6	1074	c.600G>T	c.(598-600)caG>caT	p.Q200H	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	200					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AATGGCCATACTGACTCATCA	0.517000													48	60					3.39706e-21	3.46355e-21	1	1	0
MUC16	94025	broad.mit.edu	37	19	9048383	9048383	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:9048383G>A	ENST00000397910.4	-	5	33451	c.33248C>T	c.(33247-33249)tCa>tTa	p.S11083L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11085	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGAACAGCTGAGCTGGCTTC	0.488000													13	64					0	0	1	0	0
SOX10	6663	broad.mit.edu	37	22	38373873	38373873	+	Splice_Site	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr22:38373873C>T	ENST00000396884.2	-	3	980		c.e3+1		SOX10_ENST00000360880.2_Splice_Site|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10							cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					TCAGCACTCACCTGAGGGGTG	0.642000													16	43					0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19130241	19130241	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr22:19130241G>A	ENST00000252137.6	-	2	345	c.302C>T	c.(301-303)cCc>cTc	p.P101L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	101					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					CCTCATACAGGGTGGCGGGGG	0.577000													25	88					0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767845	105767845	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:105767845A>T	ENST00000374798.3	+	5	1002	c.932A>T	c.(931-933)gAa>gTa	p.E311V	CYLC2_ENST00000487798.1_Missense_Mutation_p.E311V	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	311	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ACTGAGAAAGAATCTGCTGAT	0.393000													6	22					0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30860859	30860859	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr22:30860859G>A	ENST00000403066.1	-	9	718	c.435C>T	c.(433-435)ctC>ctT	p.L145L	SEC14L3_ENST00000402286.1_Silent_p.L127L|SEC14L3_ENST00000540910.1_Silent_p.L127L|SEC14L3_ENST00000215812.4_Silent_p.L204L|SEC14L3_ENST00000401751.1_Silent_p.L145L|SEC14L3_ENST00000539629.1_Silent_p.L145L|SEC14L3_ENST00000415957.2_Silent_p.L145L			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	204	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	ATGGCTTCATGAGGTTGTAGC	0.443000													55	74					0	0	1	0	0
TEX35	84066	broad.mit.edu	37	1	178482356	178482356	+	Silent	SNP	A	A	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:178482356A>T	ENST00000367642.3	+	1	104	c.33A>T	c.(31-33)acA>acT	p.T11T	TEX35_ENST00000258298.2_5'UTR|TEX35_ENST00000367643.3_Silent_p.T11T|TEX35_ENST00000367641.3_Silent_p.T11T|TEX35_ENST00000367639.1_Silent_p.T11T|TEX35_ENST00000319416.2_Silent_p.T11T					testis expressed 35																		TGAAGAAAACACATCTGGTAA	0.547000													12	25					0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28024150	28024150	+	Splice_Site	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:28024150C>T	ENST00000375790.5	-	4	934	c.502_splice	c.e4+1	p.D168_splice	MKX_ENST00000419761.1_Splice_Site_p.D168_splice			Q8IYA7	MKX_HUMAN	mohawk homeobox	168					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						ATTAACAAACCTTCAGAACAT	0.358000													28	51					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47861238	47861238	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:47861238G>T	ENST00000328771.4	+	4	1482	c.1133G>T	c.(1132-1134)cGg>cTg	p.R378L		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	378	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCTGAGGAGCGGGGTGACCTC	0.657000													12	30					3.07112e-06	3.08187e-06	1	1	0
LMX1A	4009	broad.mit.edu	37	1	165173242	165173242	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:165173242C>T	ENST00000342310.3	-	9	1406	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N	LMX1A_ENST00000367893.4_Missense_Mutation_p.D342N|LMX1A_ENST00000294816.2_Missense_Mutation_p.D342N|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	342						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D342N(1)		NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					AGGGAGGTGTCGTCGCTATCC	0.512000													30	77					0	0	1	0	0
AP1M1	8907	broad.mit.edu	37	19	16345240	16345240	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:16345240C>T	ENST00000291439.3	+	12	1715	c.1266C>T	c.(1264-1266)acC>acT	p.T422T	AP1M1_ENST00000429941.2_Silent_p.T369T|AP1M1_ENST00000444449.2_Silent_p.T434T|AP1M1_ENST00000541844.1_Silent_p.T350T|AP1M1_ENST00000590756.1_Silent_p.T350T	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	422	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						AGCTCCGGACCCAGTGAGGGG	0.687000													28	13					0	0	1	0	0
PRAMEF7	441871	broad.mit.edu	37	1	12979762	12979762	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:12979762C>T	ENST00000361079.2	+	4	1037	c.954C>T	c.(952-954)atC>atT	p.I318I						PRAME family member 7											endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCGAGCATCCGTCAATTAA	0.582000													49	137					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79933704	79933704	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:79933704G>C	ENST00000281127.7	+	2	1267	c.388G>C	c.(388-390)Gac>Cac	p.D130H	NRXN3_ENST00000557594.1_Missense_Mutation_p.D130H|NRXN3_ENST00000428277.2_Missense_Mutation_p.D130H|NRXN3_ENST00000335750.5_Missense_Mutation_p.D762H|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000554719.1_Missense_Mutation_p.D762H	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	130	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGTCCGCATCGACAGTGCTCC	0.557000													30	49					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95404065	95404065	+	Silent	SNP	G	G	A	rs144225041		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:95404065G>A	ENST00000336148.5	-	10	1705	c.1581C>T	c.(1579-1581)atC>atT	p.I527I		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	p.I527I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TTCTTCTAAGGATAAAGAGTC	0.368000								Direct reversal of damage;Homologous recombination					69	86					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25568558	25568558	+	Silent	SNP	A	A	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr18:25568558A>G	ENST00000269141.3	-	11	2094	c.1671T>C	c.(1669-1671)gcT>gcC	p.A557A	CDH2_ENST00000399380.3_Silent_p.A526A	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	557	Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGTCCAAAACAGCAATTGTAG	0.323000													20	24					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44676716	44676716	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr20:44676716G>A	ENST00000454036.1	+	16	2149	c.2073G>A	c.(2071-2073)aaG>aaA	p.K691K	SLC12A5_ENST00000243964.3_Silent_p.K668K|SLC12A5_ENST00000539566.1_3'UTR	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	691					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACACACCAAGAACTGGAGGT	0.602000													5	12					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961235	73961235	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:73961235G>A	ENST00000373468.1	-	3	3808	c.3157C>T	c.(3157-3159)Ctg>Ttg	p.L1053L	KIAA2022_ENST00000055682.5_Silent_p.L1053L			Q5QGS0	K2022_HUMAN	KIAA2022	1053					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GATATATCCAGGAGGTCAGTG	0.498000													42	25					0	0	1	0	0
ZNF154	7710	broad.mit.edu	37	19	58213352	58213352	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:58213352A>G	ENST00000512439.2	-	3	1161	c.965T>C	c.(964-966)gTt>gCt	p.V322A	ZNF154_ENST00000426889.1_Missense_Mutation_p.V322A|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	322						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCCAGTGTGAACCCTATGGTG	0.478000													36	64					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35485075	35485075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:35485075G>A	ENST00000357182.4	-	4	534	c.307C>T	c.(307-309)Caa>Taa	p.Q103*	ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000487874.1_Nonsense_Mutation_p.Q103*|ZMYM6_ENST00000373333.1_Nonsense_Mutation_p.Q103*|ZMYM6_ENST00000317538.5_Nonsense_Mutation_p.Q103*|ZMYM6_ENST00000373340.2_Nonsense_Mutation_p.Q103*	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	103					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TATGCAGTTTGGCCCTTATAA	0.448000													26	78					0	0	1	0	0
EXOC3	11336	broad.mit.edu	37	5	462402	462402	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:462402G>A	ENST00000512944.1	+	9	1822	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	EXOC3_ENST00000315013.5_Missense_Mutation_p.E545K	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	556					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TTTGCTGGAGGAGGTCTTCCT	0.597000													41	89					0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62568807	62568807	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:62568807G>A	ENST00000531709.2	-	8	905	c.792C>T	c.(790-792)atC>atT	p.I264I	NXF1_ENST00000532297.1_Silent_p.I264I|NXF1_ENST00000439713.2_Silent_p.I264I|NXF1_ENST00000531131.1_5'UTR|NXF1_ENST00000294172.2_Silent_p.I264I	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	264	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTACCTCAGGGATGTTCTCTT	0.517000													12	32					0	0	1	0	0
APMAP	57136	broad.mit.edu	37	20	24959419	24959419	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr20:24959419G>A	ENST00000217456.2	-	3	602	c.312C>T	c.(310-312)tcC>tcT	p.S104S	APMAP_ENST00000447138.1_Silent_p.S104S	NM_020531.2	NP_065392.1			adipocyte plasma membrane associated protein																		TATGTGCTATGGACTCCGGTC	0.552000													45	37					0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9791880	9791880	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:9791880C>T	ENST00000377298.4	-	17	3294	c.2502G>A	c.(2500-2502)ccG>ccA	p.P834P	CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000361311.4_Silent_p.P824P|CLSTN1_ENST00000377288.3_Silent_p.P815P	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	834					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		AGCGGTGTTCCGGGTGCACGA	0.587000													20	52					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785936	111785936	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:111785936C>T	ENST00000261726.6	+	22	4422	c.4268C>T	c.(4267-4269)tCc>tTc	p.S1423F		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1423	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						ATCTCCCCATCCCCACCTGGC	0.652000													39	72					0	0	1	0	0
TIGD6	81789	broad.mit.edu	37	5	149374406	149374406	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:149374406C>T	ENST00000296736.3	-	2	2280	c.1506G>A	c.(1504-1506)atG>atA	p.M502I	TIGD6_ENST00000515406.2_Missense_Mutation_p.M502I	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	502					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCACTCTTTTCATTAAATATT	0.313000													23	22					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183811	197183811	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:197183811G>A	ENST00000260983.2	-	9	1985	c.1803C>T	c.(1801-1803)ctC>ctT	p.L601L	HECW2_ENST00000409111.1_Silent_p.L245L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	601					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGCCCTGATCGAGAGACTCGG	0.592000													23	30					0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108072555	108072555	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:108072555G>A	ENST00000357759.5	+	4	760	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	HHLA2_ENST00000491820.1_Missense_Mutation_p.E116K|HHLA2_ENST00000467761.1_Missense_Mutation_p.E116K|HHLA2_ENST00000489514.2_Missense_Mutation_p.E116K|HHLA2_ENST00000467562.1_Missense_Mutation_p.E52K	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	116	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CCTTCTGGACGAAGGAATTTA	0.398000													12	30					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30881671	30881671	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:30881671T>G	ENST00000251071.5	-	8	2443	c.1693A>C	c.(1693-1695)Att>Ctt	p.I565L	CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.I565L|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.I232L|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.I565L|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.I565L	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	565					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTTGGAGAAATCTGTGACTGT	0.448000													38	101					0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91363837	91363837	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:91363837C>T	ENST00000261172.3	-	6	874	c.782G>A	c.(781-783)cGa>cAa	p.R261Q		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	261					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GTGAAGGGCTCGTAGATTTTC	0.473000													58	108					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78280057	78280057	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:78280057C>T	ENST00000582970.1	+	12	2359	c.2216C>T	c.(2215-2217)tCc>tTc	p.S739F	RNF213_ENST00000319921.4_Missense_Mutation_p.S739F|RNF213_ENST00000508628.2_Missense_Mutation_p.S788F|RNF213_ENST00000456466.1_Missense_Mutation_p.S739F	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	739										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGCAGGAGTTCCCTACTTCAG	0.493000													17	83					0	0	1	0	0
G6PC	2538	broad.mit.edu	37	17	41063317	41063317	+	Silent	SNP	C	C	T	rs137978566	byFrequency	TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:41063317C>T	ENST00000253801.2	+	5	1027	c.948C>T	c.(946-948)tcC>tcT	p.S316S	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	316					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AACCCCCATCCCAAGTCGAGC	0.587000													59	146					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88693758	88693758	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:88693758G>A	ENST00000340700.5	-	4	1078	c.627C>T	c.(625-627)atC>atT	p.I209I	KCNK10_ENST00000319231.5_Silent_p.I214I|KCNK10_ENST00000312350.5_Silent_p.I214I	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	209					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TTTTCCCAAAGATGGTTCCAA	0.408000													58	97					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43913845	43913845	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:43913845C>T	ENST00000562955.1	+	68	9488	c.9488C>T	c.(9487-9489)cCt>cTt	p.P3163L	SZT2_ENST00000372442.1_Missense_Mutation_p.P2321L|SZT2-AS1_ENST00000396885.2_RNA	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3220						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGACTGCCCCCTGAGCCAGAG	0.652000													11	19					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158256885	158256885	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:158256885G>A	ENST00000296526.7	+	10	1654	c.1329G>A	c.(1327-1329)gaG>gaA	p.E443E	GRIA2_ENST00000449365.1_Silent_p.E396E|GRIA2_ENST00000507898.1_Silent_p.E396E|GRIA2_ENST00000264426.9_Silent_p.E443E|GRIA2_ENST00000393815.2_Silent_p.E396E	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	443					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AGCGCTATGAGGGCTACTGTG	0.418000													19	22					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761907	130761907	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:130761907C>T	ENST00000392429.1	+	2	2718	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C	TMEM200A_ENST00000296978.3_Missense_Mutation_p.R114C|TMEM200A_ENST00000545622.1_Missense_Mutation_p.R114C	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	114						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TGTGGTGGTTCGCTTCTTTGA	0.408000													36	36					0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43088926	43088926	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr22:43088926C>T	ENST00000401850.1	-	2	1521	c.1032G>A	c.(1030-1032)acG>acA	p.T344T	A4GALT_ENST00000249005.2_Silent_p.T344T|A4GALT_ENST00000381278.3_Silent_p.T344T			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	344					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						CCTCGTGCGTCGTGGGGCAGT	0.662000													23	27					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26822711	26822711	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:26822711C>T	ENST00000444914.3	+	10	1914	c.1494C>T	c.(1492-1494)acC>acT	p.T498T	SLC13A2_ENST00000545060.1_Silent_p.T406T|SLC13A2_ENST00000537681.1_Silent_p.T378T|SLC13A2_ENST00000314669.5_Silent_p.T449T	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	449						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	ACAAGCTGACCCCACTGCAGA	0.617000													42	66					0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55591124	55591124	+	Silent	SNP	T	T	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:55591124T>C	ENST00000201647.6	+	5	240	c.184T>C	c.(184-186)Ttg>Ctg	p.L62L	EPS8L1_ENST00000540810.1_5'UTR|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000586329.1_Silent_p.L44L	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	62						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CTCCAGGAAGTTGGCCGTCAT	0.632000													16	22					0	0	1	0	0
MAFB	9935	broad.mit.edu	37	20	39317166	39317166	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr20:39317166C>T	ENST00000373313.2	-	1	714	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	MAFB_ENST00000396967.1_Missense_Mutation_p.E109K	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	109					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				ATGAGCGCTTCCACCGCGTCC	0.632000			T	IGH@	MM								20	69					0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947433	145947433	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:145947433G>A	ENST00000292562.7	-	5	1887	c.1612C>T	c.(1612-1614)Ccc>Tcc	p.P538S	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCTCCAGTGGGAATCTGTCCA	0.483000													35	67					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47399664	47399664	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:47399664C>T	ENST00000310638.4	-	9	1207	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	CYP4A11_ENST00000371904.4_Silent_p.E393E|CYP4A11_ENST00000371905.1_Silent_p.E392E|CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	392					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GAGTGCTGAGCTCTCTGCCAA	0.582000													12	31					0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182871567	182871567	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:182871567G>A	ENST00000265598.3	-	2	917	c.662C>T	c.(661-663)tCg>tTg	p.S221L	LAMP3_ENST00000466939.1_Missense_Mutation_p.S197L	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	221					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CTTGACTGACGATGGCTGAGG	0.547000													47	89					0	0	1	0	0
RSPO1	284654	broad.mit.edu	37	1	38079395	38079395	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:38079395C>T	ENST00000356545.2	-	7	1393	c.606G>A	c.(604-606)agG>agA	p.R202R	RSPO1_ENST00000373059.1_Silent_p.R175R|RSPO1_ENST00000401069.1_Silent_p.R202R|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000401068.1_Silent_p.R202R	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	202	TSP type-1.				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACGGCACTCTCCTCACTGTGC	0.667000													10	31					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184009960	184009960	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:184009960C>T	ENST00000402825.3	+	19	2586	c.2586C>T	c.(2584-2586)ttC>ttT	p.F862F	ECE2_ENST00000359140.4_Silent_p.F715F|ECE2_ENST00000404464.3_Silent_p.F744F|ECE2_ENST00000357474.5_Silent_p.F790F|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	862	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCGTGACTTCCTGCGGCACT	0.662000													18	41					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81613796	81613796	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:81613796G>A	ENST00000548058.1	+	11	2365	c.1455G>A	c.(1453-1455)atG>atA	p.M485I	ACSS3_ENST00000261206.3_Missense_Mutation_p.M484I|ACSS3_ENST00000548324.1_Missense_Mutation_p.M167I			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	485						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTGTAGTTATGATTTTGGATG	0.254000													22	49					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10398311	10398311	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:10398311C>T	ENST00000226207.5	-	37	5497	c.5403G>A	c.(5401-5403)ctG>ctA	p.L1801L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1801						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAGCCTCATCCAGACGATGCT	0.547000													79	46					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94159577	94159577	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:94159577C>T	ENST00000282020.4	+	8	1439	c.1181C>T	c.(1180-1182)cCc>cTc	p.P394L	GRID2_ENST00000510992.1_Missense_Mutation_p.P299L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	394					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGAGGCAATCCCAATGTCCAC	0.403000													31	29					0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74747158	74747158	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:74747158G>A	ENST00000404568.3	-	9	1718	c.1499C>T	c.(1498-1500)gCc>gTc	p.A500V	DQX1_ENST00000393951.2_Missense_Mutation_p.A500V	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	500						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						AAACCCAGGGGCAGCTGGAGG	0.537000													13	66					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116617101	116617101	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:116617101T>G	ENST00000395715.3	-	4	1672	c.1095A>C	c.(1093-1095)caA>caC	p.Q365H	TRPS1_ENST00000220888.5_Missense_Mutation_p.Q352H|TRPS1_ENST00000519076.1_Missense_Mutation_p.Q306H|TRPS1_ENST00000520276.1_Missense_Mutation_p.Q356H|TRPS1_ENST00000519674.1_Missense_Mutation_p.Q352H	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	352					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAAGAAAATGTTGTTCTAATT	0.423000									Langer-Giedion syndrome				21	66					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123964219	123964219	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:123964219G>A	ENST00000314393.4	+	3	1304	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	157						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			ACAGTCCATCGAAACCACCAA	0.507000													39	93					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31305313	31305313	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:31305313C>T	ENST00000265071.2	+	7	1297	c.1032C>T	c.(1030-1032)acC>acT	p.T344T	CDH6_ENST00000514738.1_Silent_p.T289T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	344	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AAGTGTATACCCTTAAAGTGG	0.458000													25	56					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41199882	41199882	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:41199882G>A	ENST00000263413.3	-	4	697	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	C6_ENST00000337836.5_Missense_Mutation_p.R145C	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	145	LDL-receptor class A.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGTCACAGCGAAATTTATTC	0.413000													50	84					0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46608194	46608194	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr17:46608194G>A	ENST00000239174.6	-	1	165	c.73C>T	c.(73-75)Cac>Tac	p.H25Y	HOXB1_ENST00000577092.1_Missense_Mutation_p.H25Y	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	25						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGGCGCTGTGGGCGCTGTAG	0.632000													37	55					0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185237043	185237043	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:185237043G>A	ENST00000296252.4	-	6	914	c.773C>T	c.(772-774)tCc>tTc	p.S258F	LIPH_ENST00000424591.2_Missense_Mutation_p.S224F	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	258					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTCTCTCAGGGAAGACAGGTA	0.463000													12	81					0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74473797	74473797	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:74473797C>T	ENST00000323940.5	-	17	1768	c.1523G>A	c.(1522-1524)cGa>cAa	p.R508Q	STRA6_ENST00000449139.2_Missense_Mutation_p.R508Q|STRA6_ENST00000574278.1_Missense_Mutation_p.R523Q|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000423167.2_Missense_Mutation_p.R499Q|STRA6_ENST00000416286.3_Missense_Mutation_p.R500Q|STRA6_ENST00000395105.4_Missense_Mutation_p.R508Q|STRA6_ENST00000563965.1_Missense_Mutation_p.R547Q|STRA6_ENST00000535552.1_Missense_Mutation_p.R545Q	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	508					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						ATAGAGCACTCGCCTAGGATG	0.592000													7	16					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61827755	61827755	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:61827755G>A	ENST00000280772.1	-	38	12448	c.12257C>T	c.(12256-12258)cCa>cTa	p.P4086L	ANK3_ENST00000373827.2_Missense_Mutation_p.P1467L|ANK3_ENST00000355288.2_Missense_Mutation_p.P607L|ANK3_ENST00000503366.1_Missense_Mutation_p.P1474L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4086					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCGTTCACATGGACTCTGTGG	0.383000													29	70					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45632499	45632499	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:45632499G>A	ENST00000297323.7	+	2	803	c.781G>A	c.(781-783)Gag>Aag	p.E261K	ADCY1_ENST00000432715.1_Missense_Mutation_p.E36K	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	261					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GGATGAGAACGAGAAGCAGGT	0.607000													18	39					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138672022	138672022	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chrX:138672022C>T	ENST00000520602.1	-	23	2807	c.2522G>A	c.(2521-2523)gGt>gAt	p.G841D	MCF2_ENST00000519895.1_Missense_Mutation_p.G857D|MCF2_ENST00000370573.4_Missense_Mutation_p.G781D|MCF2_ENST00000338585.6_Missense_Mutation_p.G797D|MCF2_ENST00000370578.4_Missense_Mutation_p.G926D|MCF2_ENST00000414978.1_Missense_Mutation_p.G841D|MCF2_ENST00000370576.4_Missense_Mutation_p.G781D|MCF2_ENST00000536274.1_Missense_Mutation_p.G742D			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	781					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTCCTTTTCACCATACCAGAT	0.313000													34	14					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55508782	55508782	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:55508782C>T	ENST00000543010.1	+	12	3120	c.2977C>T	c.(2977-2979)Ccc>Tcc	p.P993S	NLRP2_ENST00000339757.7_Missense_Mutation_p.P971S|NLRP2_ENST00000427260.2_Missense_Mutation_p.P970S|NLRP2_ENST00000537859.1_Missense_Mutation_p.P971S|NLRP2_ENST00000538819.1_Missense_Mutation_p.P969S|NLRP2_ENST00000391721.4_Missense_Mutation_p.P969S|NLRP2_ENST00000263437.6_Missense_Mutation_p.P990S|NLRP2_ENST00000448584.2_Missense_Mutation_p.P993S	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	993					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGGTCAGAATCCCTTGGGGTC	0.542000													28	102					0	0	1	0	0
IGHG2	3501	broad.mit.edu	37	14	106109970	106109970	+	RNA	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:106109970G>A	ENST00000390545.2	-	0	647																											CTTTGGTTTTGGAGATGGTTT	0.627000													79	162					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55339669	55339669	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:55339669G>A	ENST00000314634.3	+	1	66	c.66G>A	c.(64-66)aaG>aaA	p.K22K		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTTTTTGGAAGAAAATAGTGT	0.398000													30	61					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141328324	141328324	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:141328324C>T	ENST00000286364.3	+	22	2323	c.2288C>T	c.(2287-2289)tCc>tTc	p.S763F	RASA2_ENST00000452898.1_Missense_Mutation_p.S764F|RASA2_ENST00000509118.1_3'UTR			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	763					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AGAATTTATTCCCTTTTTACC	0.289000													22	51					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25315651	25315651	+	RNA	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:25315651C>T	ENST00000549804.2	+	0	678				SNHG14_ENST00000551077.1_RNA|SNORD116-8_ENST00000384365.1_RNA																							CTCATACCGTCGTTCTCATCG	0.488000													48	118					0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4217174	4217174	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:4217174G>A	ENST00000600132.1	+	18	2293	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K	ANKRD24_ENST00000318934.4_Missense_Mutation_p.E673K|ANKRD24_ENST00000262970.5_Missense_Mutation_p.E763K	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	673										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CACAAACATGGAGGCCACGGG	0.612000													6	14					0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52141932	52141932	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:52141932G>A	ENST00000596288.1	-	8	1260	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Silent_p.I320I|MCM3_ENST00000229854.7_Silent_p.I366I	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	366	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CAGTGGTGGGGATAGCTCGGG	0.597000													29	47					0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74453587	74453587	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr4:74453587G>A	ENST00000307439.5	-	5	646	c.352C>T	c.(352-354)Cct>Tct	p.P118S	RASSF6_ENST00000395777.2_Missense_Mutation_p.P118S|RASSF6_ENST00000335049.5_Missense_Mutation_p.P106S|RASSF6_ENST00000342081.3_Missense_Mutation_p.P150S	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	150					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCAGACATAGGAATCTGGGTC	0.373000													30	29					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130855797	130855797	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:130855797A>C	ENST00000245255.3	+	20	2670	c.2398A>C	c.(2398-2400)Aac>Cac	p.N800H	PIWIL1_ENST00000541480.1_3'UTR	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	800	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CATCTATGACAACAGCGGCCT	0.453000													58	101					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40705264	40705264	+	Silent	SNP	T	T	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:40705264T>G	ENST00000372771.4	+	8	4917	c.4890T>G	c.(4888-4890)ggT>ggG	p.G1630G		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1630					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATTCCCCGGGTGACAGTAGTG	0.463000													21	54					0	0	1	0	0
SLC35C1	55343	broad.mit.edu	37	11	45832452	45832452	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:45832452C>T	ENST00000314134.3	+	2	2057	c.661C>T	c.(661-663)Ccg>Tcg	p.P221S	SLC35C1_ENST00000456334.1_Missense_Mutation_p.P208S|SLC35C1_ENST00000442528.2_Missense_Mutation_p.P208S	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	221						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		GAAGGTGCTCCCGGCGGTGGA	0.647000													25	29					0	0	1	0	0
ANKRD30BP3	338579	broad.mit.edu	37	10	45669997	45669997	+	RNA	SNP	A	A	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:45669997A>G	ENST00000422807.1	-	0	346																											TGGGTACTACAAAAGGAACTA	0.333000													7	4					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106763	55106763	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:55106763C>T	ENST00000453777.1	+	5	727	c.557C>T	c.(556-558)cCc>cTc	p.P186L	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.P186L|LILRA1_ENST00000473156.1_3'UTR	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	186	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCTGTGGGCCCCGTGAGCCCG	0.572000													69	99					0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88039902	88039902	+	Translation_Start_Site	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:88039902G>A	ENST00000319595.4	+	1	57	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	1					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CAAAGAAAATGGATTTCTTAA	0.368000													22	62					0	0	1	0	0
RSG1	79363	broad.mit.edu	37	1	16560109	16560109	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:16560109G>A	ENST00000375599.3	-	2	682	c.263C>T	c.(262-264)aCc>aTc	p.T88I		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	88	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						CCACTCACCGGTGGTCTCGTG	0.622000													38	65					0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90280815	90280815	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:90280815T>A	ENST00000268130.7	+	15	1721	c.1620T>A	c.(1618-1620)ttT>ttA	p.F540L	WDR93_ENST00000444934.2_Missense_Mutation_p.F257L|WDR93_ENST00000560294.1_Missense_Mutation_p.F512L	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	540					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TGCTCATCTTTTCCAAGAATG	0.552000													62	89					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346845	48346845	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr11:48346845C>T	ENST00000319856.4	+	1	374	c.353C>T	c.(352-354)tCt>tTt	p.S118F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						AGAACCATCTCTTATGAGTGC	0.438000													13	243					0	0	1	0	0
PTF1A	256297	broad.mit.edu	37	10	23482639	23482639	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:23482639C>T	ENST00000376504.3	+	2	995	c.791C>T	c.(790-792)cCc>cTc	p.P264L		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	264					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CCAGGGTCCCCCTCCCCCAGC	0.507000													88	188					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133760430	133760430	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr9:133760430C>T	ENST00000318560.5	+	11	3134	c.2753C>T	c.(2752-2754)cCg>cTg	p.P918L		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	918	DNA-binding (By similarity).|Pro-rich.			SPS -> RPG (in Ref. 1; AAA51561).	actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	p.P918L(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TCGCAGAGCCCGAGCCAGGAG	0.662000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								9	23					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21533018	21533018	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr18:21533018G>A	ENST00000313654.9	+	74	10042	c.9801G>A	c.(9799-9801)caG>caA	p.Q3267Q	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.Q1602Q|LAMA3_ENST00000399516.3_Silent_p.Q3211Q|LAMA3_ENST00000269217.6_Silent_p.Q1658Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3267	Laminin G-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCTGGACAGATCCCCTTCC	0.522000													42	75					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139416379	139416379	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:139416379G>A	ENST00000406875.3	-	2	549	c.455C>T	c.(454-456)cCc>cTc	p.P152L	HIPK2_ENST00000342645.6_Missense_Mutation_p.P152L|HIPK2_ENST00000428878.2_Missense_Mutation_p.P152L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	152	Transcriptional corepression (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CTGAATCATGGGTGGATGCTC	0.542000													35	91					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228155552	228155552	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:228155552G>A	ENST00000396578.3	+	37	3322	c.3160G>A	c.(3160-3162)Gga>Aga	p.G1054R	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1054	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGGAGATAAGGGAGAGCCAGG	0.493000													11	35					0	0	1	0	0
ING1	3621	broad.mit.edu	37	13	111368055	111368055	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr13:111368055C>T	ENST00000375774.3	+	1	727	c.265C>T	c.(265-267)Cct>Tct	p.P89S	ING1_ENST00000338450.7_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000464141.1_Intron|ING1_ENST00000375775.3_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	89					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CTCCTCCTGGCCTCCGCCCTC	0.697000													6	11					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415789	86415789	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:86415789C>T	ENST00000361669.2	+	3	1780	c.681C>T	c.(679-681)atC>atT	p.I227I	AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Silent_p.I99I|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Silent_p.I227I|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Silent_p.I225I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	227					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGACAGGGATCGAGGCCTTCG	0.597000													50	67					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109031524	109031524	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:109031524C>T	ENST00000478945.1	-	3	295	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	17						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCATCTACTTCCCCCTCCAAG	0.398000													47	70					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26243883	26243883	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:26243883G>A	ENST00000265944.5	+	4	415	c.249G>A	c.(247-249)ggG>ggA	p.G83G	MYO3A_ENST00000376301.1_Silent_p.G83G|MYO3A_ENST00000543632.1_Silent_p.G83G|MYO3A_ENST00000376302.1_Silent_p.G83G	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	83	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GATTCTATGGGATATACTTTA	0.373000													55	106					0	0	1	0	0
NDRG2	57447	broad.mit.edu	37	14	21488717	21488717	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr14:21488717C>T	ENST00000556147.1	-	8	1433	c.493G>A	c.(493-495)Ggt>Agt	p.G165S	NDRG2_ENST00000554277.1_5'UTR|NDRG2_ENST00000298687.5_Missense_Mutation_p.G165S|NDRG2_ENST00000554143.1_Missense_Mutation_p.G151S|NDRG2_ENST00000554104.1_Missense_Mutation_p.G78S|NDRG2_ENST00000555158.1_Missense_Mutation_p.G151S|NDRG2_ENST00000403829.3_Missense_Mutation_p.G161S|NDRG2_ENST00000298684.5_Intron|NDRG2_ENST00000397858.1_Missense_Mutation_p.G165S|NDRG2_ENST00000553503.1_Missense_Mutation_p.G151S|NDRG2_ENST00000397855.3_Intron|NDRG2_ENST00000350792.3_Missense_Mutation_p.G151S|NDRG2_ENST00000397847.2_Missense_Mutation_p.G165S|NDRG2_ENST00000360463.3_Missense_Mutation_p.G151S|NDRG2_ENST00000397844.2_Missense_Mutation_p.G151S|NDRG2_ENST00000397851.2_Missense_Mutation_p.G165S|NDRG2_ENST00000397856.3_Missense_Mutation_p.G151S|NDRG2_ENST00000397853.3_Missense_Mutation_p.G165S			Q9UN36	NDRG2_HUMAN	NDRG family member 2	165					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AGGACAAGACCTTCAACAGTG	0.562000													7	17					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769414	57769414	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr20:57769414C>T	ENST00000371030.2	+	1	3340	c.3340C>T	c.(3340-3342)Cct>Tct	p.P1114S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1114						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCAGAAGATCCTTCTTCAGG	0.672000													56	33					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114462380	114462380	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr5:114462380G>A	ENST00000513154.1	-	10	2297	c.1971C>T	c.(1969-1971)ttC>ttT	p.F657F	TRIM36_ENST00000514154.1_Silent_p.F514F|TRIM36_ENST00000282369.3_Silent_p.F669F			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	669	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CACAGTCAAGGAAAATCCCAA	0.373000													21	48					0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8688796	8688796	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:8688796G>A	ENST00000299663.3	-	5	543	c.378C>T	c.(376-378)ttC>ttT	p.F126F	CLEC4E_ENST00000446457.2_Intron|CLEC4E_ENST00000545274.1_Silent_p.F81F	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	126	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TGTAGGAAAGGAATTCCTATG	0.373000													14	47					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50857568	50857568	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:50857568G>A	ENST00000395562.2	+	11	1620	c.1151G>A	c.(1150-1152)aGg>aAg	p.R384K	CHAT_ENST00000395559.2_Missense_Mutation_p.R348K|CHAT_ENST00000455728.2_Missense_Mutation_p.R348K|CHAT_ENST00000339797.1_Missense_Mutation_p.R348K|CHAT_ENST00000337653.2_Missense_Mutation_p.R466K|CHAT_ENST00000351556.3_Missense_Mutation_p.R348K	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	466					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CAGAGCAGCAGGAAGCTGATC	0.622000													21	43					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39006788	39006788	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:39006788C>T	ENST00000355481.4	+	65	9747	c.9616C>T	c.(9616-9618)Ctg>Ttg	p.L3206L	RYR1_ENST00000360985.3_Silent_p.L3206L|RYR1_ENST00000359596.3_Silent_p.L3206L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3206					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGTGGCGTTCCTGGAGCCGCA	0.682000													4	4					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108363309	108363309	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:108363309C>T	ENST00000361582.3	+	14	1670	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	DZIP3_ENST00000463306.1_Silent_p.F480F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	480					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TAAATGTGTTCCCTGCACCCA	0.418000													43	89					0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107950319	107950319	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:107950319C>T	ENST00000370067.1	+	5	1703	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F	NTNG1_ENST00000370068.1_Missense_Mutation_p.S359F|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370074.4_Missense_Mutation_p.S359F|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370066.1_Missense_Mutation_p.S359F|NTNG1_ENST00000370073.2_Missense_Mutation_p.S359F|NTNG1_ENST00000370071.2_Missense_Mutation_p.S359F|NTNG1_ENST00000370065.1_Missense_Mutation_p.S359F|NTNG1_ENST00000542803.1_Intron|NTNG1_ENST00000370061.3_Missense_Mutation_p.S359F			Q9Y2I2	NTNG1_HUMAN	netrin G1	359					axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CCCAGTATTTCCAGTATTGGT	0.308000													19	70					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43045290	43045290	+	Silent	SNP	C	C	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:43045290C>T	ENST00000267890.6	-	14	2262	c.2154G>A	c.(2152-2154)gaG>gaA	p.E718E		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	718					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GAGGTTCACCCTCTGTCACAA	0.468000													57	124					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185184743	185184743	+	Silent	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr3:185184743G>A	ENST00000265026.3	+	10	1969	c.1635G>A	c.(1633-1635)caG>caA	p.Q545Q	MAP3K13_ENST00000443863.1_Silent_p.Q401Q|MAP3K13_ENST00000446828.1_Silent_p.Q338Q|MAP3K13_ENST00000535426.1_Silent_p.Q401Q|MAP3K13_ENST00000424227.1_Silent_p.Q545Q	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	545					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CTGGGATGCAGACCAAACGGT	0.483000													19	44					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26689100	26689100	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr22:26689100G>A	ENST00000529632.2	+	2	1019	c.823G>A	c.(823-825)Gag>Aag	p.E275K	SEZ6L_ENST00000403121.1_Missense_Mutation_p.E48K|SEZ6L_ENST00000360929.3_Missense_Mutation_p.E275K|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E275K|SEZ6L_ENST00000404234.3_Missense_Mutation_p.E275K|SEZ6L_ENST00000248933.6_Missense_Mutation_p.E275K|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E48K	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	275						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						catcaccaccGAGCAGGCACC	0.552000													6	8					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323035	29323035	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:29323035G>A	ENST00000377154.1	-	4	1237	c.938C>T	c.(937-939)tCc>tTc	p.S313F	OR5V1_ENST00000543825.1_Missense_Mutation_p.S313F			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S313F(2)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATCCAAAGAGGAAATTGGTGG	0.358000													32	75					0	0	1	0	0
C8orf47	203111	broad.mit.edu	37	8	99101874	99101874	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr8:99101874G>A	ENST00000318528.3	+	2	988	c.629G>A	c.(628-630)gGa>gAa	p.G210E	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	210										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GGCACAGTGGGAAAGGATGAG	0.468000													19	38					0	0	1	0	0
RPL22	6146	broad.mit.edu	37	1	6257784	6257785	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:6257784_6257785insT	ENST00000234875.4	-	2	82_83	c.44_45insA	c.(43-45)aaafs	p.K15fs	RPL22_ENST00000484532.1_5'UTR|RPL22_ENST00000497965.1_5'UTR	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	15					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome	p.K15fs*5(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GAACTTGCTTCTTTTTTTTGCC	0.401			T	RUNX1	"""AML, CML"""								12	31	---	---	---	---					
SRGAP2B	647135	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:144043905_144043906insG	ENST00000467933.1	+	0	1108																											tcgctcacgctggagctgtaga	0.535													6	11	---	---	---	---					
PRG4	10216	broad.mit.edu	37	1	186276143	186276145	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr1:186276143_186276145delCTC	ENST00000445192.2	+	7	1337_1339	c.1292_1294delCTC	c.(1291-1296)acc>a	p.TP431del	PRG4_ENST00000367486.3_In_Frame_Del_p.TP388del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_In_Frame_Del_p.TP338del|PRG4_ENST00000367483.4_In_Frame_Del_p.TP390del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	431	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GCACCCACCACTCCCAAGGAGCC	0.655													9	197	---	---	---	---					
DNMT3A	1788	broad.mit.edu	37	2	25458594	25458595	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr2:25458594_25458595insA	ENST00000264709.3	-	22	2915_2916	c.2578_2579insT	c.(2578-2580)gtgfs	p.V860fs	DNMT3A_ENST00000321117.5_Frame_Shift_Ins_p.V860fs|DNMT3A_ENST00000402667.1_Frame_Shift_Ins_p.V637fs|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Frame_Shift_Ins_p.V671fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	860					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.W860R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCAGTGCACCATAAGATGTCC	0.510			"""Mis, F, N, S"""		AML								22	12	---	---	---	---					
FAXC	84553	broad.mit.edu	37	6	99790802	99790803	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr6:99790802_99790803insA	ENST00000389677.5	-	2	655_656	c.373_374insT	c.(373-375)tttfs	p.F125fs	FAXC_ENST00000538471.1_5'UTR	NM_032511.2	NP_115900.1	Q5TGI0	CF168_HUMAN	failed axon connections homolog (Drosophila)	125																	CATCCTTAAATAAGTTTCCATC	0.361													18	38	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151845985	151845985	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr7:151845985delC	ENST00000355193.2	-	53	13416	c.13198delG	c.(13198-13200)aafs	p.E4400fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.E4343fs					lysine (K)-specific methyltransferase 2C																		CTGCAATCTTCAAACCCACCA	0.483													27	59	---	---	---	---					
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396278	+	RNA	INS	-	-	T	rs148140777	by1000genomes	TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr10:118396277_118396278insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													2	4	---	---	---	---					
RP11-273B20.3	0	broad.mit.edu	37	12	7338794	7338794	+	RNA	DEL	G	G	-	rs34548221		TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:7338794delG	ENST00000545794.1	-	0	279				RP11-273B20.3_ENST00000543061.1_RNA																							cctgttgagaggggggactga	0.502													4	2	---	---	---	---					
CDK17	5128	broad.mit.edu	37	12	96688890	96688901	+	Splice_Site	DEL	TACAGAAACAGC	TACAGAAACAGC	-	rs151204882	byFrequency	TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr12:96688890_96688901delTACAGAAACAGC	ENST00000261211.3	-	10	1477_1487	c.873_splice	c.e10-1	p.292_splice	CDK17_ENST00000542666.1_Splice_Site_p.239_splice|CDK17_ENST00000553042.1_5'UTR|CDK17_ENST00000543119.2_Splice_Site_p.292_splice	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	292	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity	p.Y295N(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TAGAATTTGGTACAGAAACAGCTACAGAAACA	0.354													11	55	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													6	11	---	---	---	---					
TBC1D21	161514	broad.mit.edu	37	15	74181422	74181422	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr15:74181422delT	ENST00000300504.2	+	11	1074	c.991delT	c.(991-993)tafs	p.L331fs	TBC1D21_ENST00000562056.1_Frame_Shift_Del_p.L294fs|TBC1D21_ENST00000535547.2_Frame_Shift_Del_p.L295fs	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	331						intracellular	Rab GTPase activator activity	p.L331I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						TCCTCAGACATTAAAGGATTT	0.537													8	19	---	---	---	---					
BRSK1	84446	broad.mit.edu	37	19	55813012	55813013	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EB-A430-01A-11D-A24R-08	TCGA-EB-A430-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7776ae0a-1862-4ad8-82cf-fec550878c89	ebd64ba0-7354-455a-bc52-7588dab77dd6	g.chr19:55813012_55813013insA	ENST00000309383.1	+	8	1088_1089	c.811_812insA	c.(811-813)aaafs	p.K271fs	BRSK1_ENST00000585418.1_Frame_Shift_Ins_p.K271fs|BRSK1_ENST00000590333.1_Frame_Shift_Ins_p.K287fs	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	271	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AGTGGAGCCCGAAAAAAGGCTC	0.584													6	11	---	---	---	---