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
APP	351	broad.mit.edu	37	21	27327992	27327992	+	Silent	SNP	G	G	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr21:27327992G>A	ENST00000358918.3	-	12	1735	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	APP_ENST00000448388.2_Silent_p.F402F|APP_ENST00000357903.3_Silent_p.F493F|APP_ENST00000359726.3_Silent_p.F456F|APP_ENST00000440126.3_Silent_p.F488F|APP_ENST00000348990.5_Silent_p.F437F|APP_ENST00000354192.3_Silent_p.F381F|APP_ENST00000439274.2_Silent_p.F456F|APP_ENST00000346798.3_Silent_p.F512F	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	512	Heparin-binding.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	p.F512F(2)		endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GCACATGCTCGAAATGCTTTA	0.493000													26	40					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72040905	72040905	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr15:72040905G>T	ENST00000355327.3	+	14	2521	c.2387G>T	c.(2386-2388)aGc>aTc	p.S796I	THSD4_ENST00000357769.4_Missense_Mutation_p.S436I|THSD4_ENST00000261862.6_Missense_Mutation_p.S796I|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	796	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGTGCCAAGAGCTGGTTCCTC	0.572000													7	37					7.48243e-07	9.74602e-07	1	1	0
HK1	3098	broad.mit.edu	37	10	71158462	71158462	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr10:71158462G>C	ENST00000448642.2	+	22	2981	c.2592G>C	c.(2590-2592)agG>agC	p.R864S	HK1_ENST00000360289.2_Missense_Mutation_p.R817S|HK1_ENST00000404387.2_Missense_Mutation_p.R833S|HK1_ENST00000298649.3_Missense_Mutation_p.R828S|HK1_ENST00000359426.6_Missense_Mutation_p.R829S			P19367	HXK1_HUMAN	hexokinase 1	829	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TGTCCAGGAGGGCCGCACAGC	0.602000													8	45					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26712109	26712109	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:26712109T>C	ENST00000272371.2	-	11	1141	c.1015A>G	c.(1015-1017)Atg>Gtg	p.M339V	OTOF_ENST00000403946.3_Missense_Mutation_p.M339V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	339					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCACGTCCATTTTGAAGGAG	0.622000													5	20					0	0	1	0	0
EAF2	55840	broad.mit.edu	37	3	121591442	121591442	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr3:121591442T>A	ENST00000273668.2	+	5	614	c.543T>A	c.(541-543)gaT>gaA	p.D181E	EAF2_ENST00000451944.2_Missense_Mutation_p.D181E	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	181	Necessary for transactivation activity.|Ser-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		GTTCATCAGATTCCAAAAGTT	0.358000													21	106					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578498	7578498	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr17:7578498C>A	ENST00000420246.2	-	5	564	c.432G>T	c.(430-432)caG>caT	p.Q144H	TP53_ENST00000359597.4_Missense_Mutation_p.Q144H|TP53_ENST00000413465.2_Missense_Mutation_p.Q144H|TP53_ENST00000269305.4_Missense_Mutation_p.Q144H|TP53_ENST00000455263.2_Missense_Mutation_p.Q144H|TP53_ENST00000445888.2_Missense_Mutation_p.Q144H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	144	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q144H(4)|p.Q144fs*25(3)|p.Q144del(2)|p.Q144Q(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q51fs*25(1)|p.Q144K(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q12fs*25(1)|p.V143_S149del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAACCCACAGCTGCACAGGGC	0.602000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	45					0.00400662	0.00446782	1	1	0
CDH6	1004	broad.mit.edu	37	5	31267710	31267710	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr5:31267710A>C	ENST00000265071.2	+	2	395	c.130A>C	c.(130-132)Agc>Cgc	p.S44R	CDH6_ENST00000514738.1_5'UTR|RP11-152K4.2_ENST00000523584.1_RNA	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	44					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						CTCTGGAAACAGCAAAAATGA	0.488000													29	36					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222828121	222828121	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:222828121G>T	ENST00000344922.5	+	18	4618	c.4593G>T	c.(4591-4593)gaG>gaT	p.E1531D	MIA3_ENST00000344441.6_Missense_Mutation_p.E1531D|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.E409D	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1531					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGCAGAAGGAGATGGCTTTGC	0.373000													22	38					4.26978e-12	6.45674e-12	1	1	0
MYH2	4620	broad.mit.edu	37	17	10447064	10447064	+	Silent	SNP	G	G	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr17:10447064G>A	ENST00000245503.5	-	8	1089	c.705C>T	c.(703-705)aaC>aaT	p.N235N	MYH2_ENST00000397183.2_Silent_p.N235N|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Silent_p.N235N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	235	Myosin head-like.				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						CGGTCTTGGCGTTGCCAAAGG	0.478000													11	39					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25380196	25380196	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr12:25380196T>A	ENST00000311936.3	-	3	453	c.262A>T	c.(262-264)Aaa>Taa	p.K88*	KRAS_ENST00000256078.4_Nonsense_Mutation_p.K88*|KRAS_ENST00000557334.1_Intron	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	88					activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding		UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TCAAATGATTTAGTATTATTT	0.348000		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			12	39					0	0	1	0	0
C14orf80	283643	broad.mit.edu	37	14	105960174	105960174	+	Silent	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr14:105960174C>T	ENST00000392523.4	+	5	709	c.588C>T	c.(586-588)atC>atT	p.I196I	C14orf80_ENST00000450383.1_Silent_p.I18I|C14orf80_ENST00000334656.7_Intron|C14orf80_ENST00000354560.6_Intron|C14orf80_ENST00000392522.3_Silent_p.I196I|C14orf80_ENST00000392527.1_Intron|C14orf80_ENST00000551054.1_Intron|C14orf80_ENST00000329886.7_Intron			Q86SX3	CN080_HUMAN	chromosome 14 open reading frame 80	196										central_nervous_system(1)	1		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		TGTTTTAGATCCACCTGTACA	0.602000													5	32					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125854472	125854472	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr3:125854472C>A	ENST00000393434.2	-	12	1727	c.1378G>T	c.(1378-1380)Gac>Tac	p.D460Y	ALDH1L1_ENST00000273450.3_Missense_Mutation_p.D470Y|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.D359Y|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.D460Y|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.D460Y	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	460	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTGTCGACGTCGGTGACTTGG	0.597000													6	50					0.00198382	0.0022282	1	1	0
RTN1	6252	broad.mit.edu	37	14	60074098	60074098	+	Silent	SNP	G	G	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr14:60074098G>A	ENST00000267484.5	-	4	2213	c.1878C>T	c.(1876-1878)taC>taT	p.Y626Y	RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000395090.1_Silent_p.Y43Y|RTN1_ENST00000342503.4_Silent_p.Y58Y	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	626	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CCAGGGCCAGGTAGGCCACGA	0.562000													6	43					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331319	100331319	+	RNA	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr15:100331319G>T	ENST00000341853.1	-	0	2872					NR_003260.1																						AGTGCTCACTGGGATTTTGCT	0.577000													7	73					0.0477658	0.0507102	1	1	0
PHEX	5251	broad.mit.edu	37	X	22244559	22244559	+	Splice_Site	SNP	G	G	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:22244559G>A	ENST00000379374.4	+	19	2464		c.e19-1		PHEX_ENST00000537599.1_Splice_Site|PHEX_ENST00000418858.3_Splice_Site|PHEX_ENST00000535894.1_Splice_Site	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked						biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CTTTCTGTTAGGTCAAGGGGA	0.393000													9	66					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153220568	153220568	+	Silent	SNP	G	G	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:153220568G>A	ENST00000310441.7	-	17	4248	c.3282C>T	c.(3280-3282)gcC>gcT	p.A1094A	HCFC1_ENST00000354233.3_Silent_p.A1025A|HCFC1_ENST00000369984.4_Silent_p.A1094A	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1094					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTtggaggtggcggtggtgg	0.657000													15	53					0	0	1	0	0
RIPK1	8737	broad.mit.edu	37	6	3083425	3083425	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr6:3083425C>T	ENST00000259808.4	+	5	864	c.566C>T	c.(565-567)aCc>aTc	p.T189I	RIPK1_ENST00000541791.1_Missense_Mutation_p.T143I|RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Missense_Mutation_p.T189I			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	189	Protein kinase.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				AATGGCGGCACCCTCTACTAC	0.522000													10	56					0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78474874	78474874	+	Silent	SNP	G	G	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr15:78474874G>A	ENST00000258873.4	-	7	1033	c.828C>T	c.(826-828)tgC>tgT	p.C276C	ACSBG1_ENST00000560817.1_Silent_p.C34C|ACSBG1_ENST00000541759.1_Silent_p.C34C	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	276					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTAGCACACAGCACTGGTTGG	0.592000													3	32					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900657	123900657	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:123900657G>A	ENST00000431524.1	+	1	361	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGGGGGCACCGAGTGTTTCCT	0.537000													11	96					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538040	55538040	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr8:55538040G>T	ENST00000220676.1	+	4	1746	c.1598G>T	c.(1597-1599)aGa>aTa	p.R533I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	533					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCATTAGAAAGAAAAAAGGAA	0.328000													3	21					1	1	1	1	0
ZNF681	148213	broad.mit.edu	37	19	23926839	23926839	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr19:23926839A>G	ENST00000402377.3	-	4	1654	c.1513T>C	c.(1513-1515)Tcc>Ccc	p.S505P	ZNF681_ENST00000395385.3_Missense_Mutation_p.S436P	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CATTTGTAGGATTTCTCTCCA	0.373000													3	70					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616171	248616171	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:248616171C>A	ENST00000342927.3	+	1	95	c.73C>A	c.(73-75)Ccc>Acc	p.P25T		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCTGCCTTCCCCGGGCTTCT	0.532000													4	149					2.17888e-05	2.7236e-05	1	1	0
ADIPOQ	9370	broad.mit.edu	37	3	186572221	186572221	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr3:186572221C>T	ENST00000412955.2	+	3	604	c.463C>T	c.(463-465)Cct>Tct	p.P155S	ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Missense_Mutation_p.P155S|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.P155S			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	155	C1q.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		CTGCAACATTCCTGGGCTGTA	0.443000													8	66					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86258460	86258460	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:86258460C>A	ENST00000263857.6	-	30	4949	c.4571G>T	c.(4570-4572)tGg>tTg	p.W1524L	POLR1A_ENST00000409681.1_Intron			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1524					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GACCTGGCACCACAGGCTCTC	0.657000													33	78					1.07637e-12	1.65185e-12	1	1	0
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81443821	81443821	+	RNA	SNP	C	C	G	rs150975459	by1000genomes	TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr10:81443821C>G	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GCAGCACCATCGCCTCAGACC	0.612000													4	25					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25456960	25456960	+	RNA	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr15:25456960C>A	ENST00000424208.1	+	0	2516				SNORD115-23_ENST00000364461.1_RNA|SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TGATGAGAACCCTATATTGTG	0.522000													38	200					1.8453e-21	3.21372e-21	1	1	0
TMCO6	55374	broad.mit.edu	37	5	140023455	140023455	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr5:140023455C>A	ENST00000394671.3	+	9	1110	c.1009C>A	c.(1009-1011)Cgt>Agt	p.R337S	TMCO6_ENST00000537378.1_Missense_Mutation_p.R97S|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Missense_Mutation_p.R343S	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	337					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGATGAGCGTGTTGTGGC	0.537000													23	32					1.66031e-10	2.4278e-10	1	1	0
SI	6476	broad.mit.edu	37	3	164754207	164754207	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr3:164754207C>A	ENST00000264382.3	-	22	2547	c.2485G>T	c.(2485-2487)Gac>Tac	p.D829Y		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	829	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAGAAAAAGTCTCCTTTGGCT	0.348000										HNSCC(35;0.089)			9	38					2.80697e-09	4.02853e-09	1	1	0
IGSF1	3547	broad.mit.edu	37	X	130412049	130412049	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:130412049G>T	ENST00000370904.1	-	19	2984	c.2074C>A	c.(2074-2076)Ctc>Atc	p.L692I	IGSF1_ENST00000370910.1_Missense_Mutation_p.L692I|IGSF1_ENST00000361420.3_Missense_Mutation_p.L701I|IGSF1_ENST00000370903.3_Missense_Mutation_p.L706I			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	701	Ig-like C2-type 7.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TTGCACCGGAGTTGTAGTTCC	0.522000													27	109					5.91797e-21	1.01921e-20	1	1	0
PACS2	23241	broad.mit.edu	37	14	105833558	105833558	+	Silent	SNP	A	A	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr14:105833558A>G	ENST00000447393.1	+	5	607	c.432A>G	c.(430-432)caA>caG	p.Q144Q	PACS2_ENST00000547217.1_Silent_p.Q114Q|PACS2_ENST00000430725.2_Silent_p.Q77Q|PACS2_ENST00000458164.2_Silent_p.Q144Q|PACS2_ENST00000325438.8_Silent_p.Q144Q	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	144					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		AGGTGATGCAACACCCGTCTG	0.642000													6	29					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62748565	62748565	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:62748565C>A	ENST00000377871.3	-	6	1195	c.929G>T	c.(928-930)cGg>cTg	p.R310L	SLC22A6_ENST00000458333.2_Missense_Mutation_p.R310L|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000421062.2_Missense_Mutation_p.R310L|SLC22A6_ENST00000360421.4_Missense_Mutation_p.R310L	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	310					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAGACTGGCCCGGAGTACCTG	0.662000													3	29					1	1	1	1	0
WDR49	151790	broad.mit.edu	37	3	167240120	167240120	+	Silent	SNP	T	T	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr3:167240120T>C	ENST00000308378.3	-	12	2006	c.1701A>G	c.(1699-1701)aaA>aaG	p.K567K	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Silent_p.K392K|WDR49_ENST00000453925.2_Silent_p.K532K	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	567										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTGAGTCATCTTTGTTTTTCT	0.318000													3	31					0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153783767	153783767	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr5:153783767C>G	ENST00000297107.6	+	8	1297	c.1160C>G	c.(1159-1161)gCc>gGc	p.A387G	GALNT10_ENST00000377657.3_Missense_Mutation_p.A58G|GALNT10_ENST00000377661.2_Missense_Mutation_p.A325G|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	387						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GTCAGCCTGGCCCGGGTAAGG	0.617000													9	7					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55729223	55729223	+	Silent	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr16:55729223C>T	ENST00000379906.2	+	7	1311	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	SLC6A2_ENST00000567238.1_Silent_p.I247I|SLC6A2_ENST00000566163.1_Silent_p.I307I|SLC6A2_ENST00000561820.1_Silent_p.I352I|SLC6A2_ENST00000568943.1_Silent_p.I352I|SLC6A2_ENST00000219833.8_Silent_p.I352I|SLC6A2_ENST00000414754.3_Silent_p.I352I	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	352					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCAACTGTATCACCAGCTTCG	0.547000													10	86					0	0	1	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281643	71281643	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr17:71281643C>A	ENST00000335793.3	-	2	1391	c.997G>T	c.(997-999)Gct>Tct	p.A333S	CDC42EP4_ENST00000439510.2_Missense_Mutation_p.A263S|CDC42EP4_ENST00000581014.1_Missense_Mutation_p.G65V			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	333					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GAGACAGCAGCCCGGGCCCTG	0.657000													28	81					3.73148e-12	5.67038e-12	1	1	0
TOB1	10140	broad.mit.edu	37	17	48940956	48940956	+	Silent	SNP	G	G	A	rs142180537		TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr17:48940956G>A	ENST00000499247.2	-	2	856	c.423C>T	c.(421-423)ccC>ccT	p.P141P	TOB1_ENST00000268957.3_Silent_p.P141P|TOB1_ENST00000509385.1_5'UTR	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	141					negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GGTCACTTATGGGCATAAAAA	0.488000											OREG0024576	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	45					0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101012237	101012237	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr12:101012237G>C	ENST00000537247.1	+	8	1162	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	GAS2L3_ENST00000539410.1_Missense_Mutation_p.E174Q|GAS2L3_ENST00000547754.1_Missense_Mutation_p.E174Q|GAS2L3_ENST00000266754.5_Missense_Mutation_p.E174Q			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	174	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						ATACGGGGTTGAGCCACCAGT	0.393000													7	38					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	55999767	55999767	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:55999767C>A	ENST00000313264.4	-	1	970	c.895G>T	c.(895-897)Gtg>Ttg	p.V299L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CTTGGTCTCACATACATGAAG	0.428000													22	116					1.22574e-08	1.73506e-08	1	1	0
CLEC4A	50856	broad.mit.edu	37	12	8276539	8276539	+	Missense_Mutation	SNP	A	A	G	rs36113649		TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr12:8276539A>G	ENST00000229332.5	+	1	312	c.65A>G	c.(64-66)aAc>aGc	p.N22S	CLEC4A_ENST00000345999.3_Missense_Mutation_p.N22S|CLEC4A_ENST00000360500.3_Missense_Mutation_p.N22S|CLEC4A_ENST00000352620.3_Missense_Mutation_p.N22S	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	22					cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		TCAGGCATCAACACAGCCTCT	0.418000													28	45					0	0	1	0	0
RAB39A	54734	broad.mit.edu	37	11	107832694	107832694	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:107832694C>T	ENST00000320578.2	+	2	316	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	84					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding										ATCTTATTACCGCAACTCAGT	0.353000													4	23					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156646857	156646857	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:156646857A>T	ENST00000368223.3	-	1	332	c.200T>A	c.(199-201)gTt>gAt	p.V67D		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	67	Coil 1B.|Rod.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCGTTGGTCAACGAGGGCCCG	0.736000													4	4					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37026574	37026574	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:37026574G>A	ENST00000358047.3	+	1	143	c.91G>A	c.(91-93)Gcg>Acg	p.A31T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	31										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CAAGTACTTCGCGAAGCGCAA	0.642000													5	23					0	0	1	0	0
WASH6P	653440	broad.mit.edu	37	X	155254961	155254961	+	RNA	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:155254961C>T	ENST00000285718.7	+	0	1266				WASH6P_ENST00000461007.1_RNA														p.R453R(1)									CCTTTGCCCGCGTGTCAGACT	0.642000													7	12					0	0	1	0	0
AURKC	6795	broad.mit.edu	37	19	57746650	57746650	+	Silent	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr19:57746650G>T	ENST00000302804.7	+	7	981	c.795G>T	c.(793-795)ggG>ggT	p.G265G	AURKC_ENST00000415300.2_Silent_p.G246G|AURKC_ENST00000448930.1_Silent_p.G231G|AURKC_ENST00000598785.1_Silent_p.G231G|AURKC_ENST00000599062.1_Silent_p.G262G	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	265	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TGCCTCTGGGGGCCCGGGACT	0.532000													9	22					2.17888e-05	2.7236e-05	1	1	0
EHMT2	10919	broad.mit.edu	37	6	31848493	31848493	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr6:31848493C>T	ENST00000395728.3	-	26	3579	c.3580G>A	c.(3580-3582)Gcc>Acc	p.A1194T	EHMT2_ENST00000375528.4_Missense_Mutation_p.A1160T|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.A1103T|EHMT2_ENST00000375537.4_Missense_Mutation_p.A1137T			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1137					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CTGAAGAAGGCGATGCGTGGA	0.582000													4	56					0	0	1	0	0
TCN1	6947	broad.mit.edu	37	11	59622172	59622172	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:59622172G>T	ENST00000257264.3	-	7	1178	c.1074C>A	c.(1072-1074)ttC>ttA	p.F358L	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	358					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCACACTGAGGAAGACAGAAC	0.383000													16	66					1.37522e-17	2.29204e-17	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													5	74					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33592396	33592396	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr12:33592396G>T	ENST00000228567.3	-	1	358	c.62C>A	c.(61-63)aCc>aAc	p.T21N	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	21						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GCACAGCTCGGTGACGATGTG	0.572000													76	170					2.02624e-56	3.58933e-56	1	1	0
CHST5	23563	broad.mit.edu	37	16	75563351	75563351	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr16:75563351G>A	ENST00000336257.3	-	3	2326	c.932C>T	c.(931-933)gCc>gTc	p.A311V	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.A317V	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	311			A -> T (in dbSNP:rs7206332).		N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCCGGTGAAGGCGTAGAGTGC	0.677000													19	96					0	0	1	0	0
SRSF1	6426	broad.mit.edu	37	17	56082810	56082810	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr17:56082810G>A	ENST00000258962.4	-	4	912	c.704C>T	c.(703-705)cCa>cTa	p.P235L	SRSF1_ENST00000582730.2_3'UTR|SRSF1_ENST00000584773.1_Missense_Mutation_p.P235L|SRSF1_ENST00000585096.1_Intron	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	235	Arg/Ser-rich (RS domain).|Interacts with SAFB1.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGAATAGCGTGGTGATCCTCT	0.473000													68	191					0	0	1	0	0
CSNK2A2	1459	broad.mit.edu	37	16	58220711	58220711	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr16:58220711A>C	ENST00000262506.3	-	3	449	c.266T>G	c.(265-267)cTt>cGt	p.L89R	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	89	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						TCCACCACGAAGGTTCTCCAG	0.413000													18	88					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152685991	152685991	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr6:152685991C>A	ENST00000367255.5	-	63	10737	c.10136G>T	c.(10135-10137)cGt>cTt	p.R3379L	SYNE1_ENST00000448038.1_Missense_Mutation_p.R3386L|SYNE1_ENST00000265368.4_Missense_Mutation_p.R3379L|SYNE1_ENST00000423061.1_Missense_Mutation_p.R3386L|SYNE1_ENST00000341594.5_Missense_Mutation_p.R3418L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3379					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTTTTACAACGAATCCCTGC	0.468000										HNSCC(10;0.0054)			12	32					0.00010058	0.000121796	1	1	0
RNF17	56163	broad.mit.edu	37	13	25370319	25370319	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr13:25370319C>A	ENST00000255324.5	+	11	1337	c.1285C>A	c.(1285-1287)Cat>Aat	p.H429N	RNF17_ENST00000381921.1_Missense_Mutation_p.H429N|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Missense_Mutation_p.H430N	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	429					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGATCCTTGCCATTTCTACAT	0.348000													4	60					1	1	1	1	0
CTSG	1511	broad.mit.edu	37	14	25044576	25044576	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr14:25044576G>T	ENST00000216336.2	-	2	134	c.98C>A	c.(97-99)cCc>cAc	p.P33H		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	33	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CGCCATGTAGGGGCGGGAGTG	0.572000													17	141					5.45727e-16	8.95108e-16	1	1	0
UTS2	10911	broad.mit.edu	37	1	7913047	7913047	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:7913047G>A	ENST00000377516.2	-	2	337	c.17C>T	c.(16-18)tCc>tTc	p.S6F	UTS2_ENST00000361696.5_Missense_Mutation_p.S6F|UTS2_ENST00000054668.5_Intron			O95399	UTS2_HUMAN	urotensin 2	6					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		CAAACAGCAGGAGGCCAGCTT	0.423000													6	35					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25572690	25572690	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr18:25572690C>G	ENST00000269141.3	-	9	1696	c.1273G>C	c.(1273-1275)Gga>Cga	p.G425R	CDH2_ENST00000399380.3_Missense_Mutation_p.G394R	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	425	Cadherin 3.				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						GTAGGATCTCCGCCACTGATT	0.522000													12	75					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	599685	599685	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr16:599685C>A	ENST00000219611.2	+	7	2276	c.1913C>A	c.(1912-1914)gCg>gAg	p.A638E	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		TCCTACTTTGCGCTCCAGGCG	0.716000													2	1					0.0784	0.0826667	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23522423	23522423	+	Silent	SNP	G	G	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr5:23522423G>A	ENST00000296682.3	+	7	701	c.519G>A	c.(517-519)aaG>aaA	p.K173K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	173					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AACTCAGGAAGAAGGAGACTG	0.428000										HNSCC(3;0.000094)			39	80					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44204415	44204415	+	Splice_Site	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:44204415C>A	ENST00000260665.7	-	4	527	c.469_splice	c.e4-1	p.G157_splice	LRPPRC_ENST00000409659.1_Splice_Site_p.G157_splice|LRPPRC_ENST00000409946.1_Splice_Site_p.G157_splice	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	157					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATACACAGCACCTACAAATGA	0.289000													12	35					4.3838e-07	5.78289e-07	1	1	0
POTEE	445582	broad.mit.edu	37	2	132021446	132021446	+	Silent	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:132021446C>T	ENST00000356920.5	+	15	2512	c.2418C>T	c.(2416-2418)acC>acT	p.T806T	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	806	Actin-like.						ATP binding										TCCTGCTGACCGAGGCCCCCC	0.597000													34	116					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11047529	11047529	+	RNA	SNP	A	A	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr21:11047529A>T	ENST00000470054.1	-	0	725									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCGTTGAAGACAAAAAGTAT	0.353000													17	297					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156814505	156814505	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:156814505C>A	ENST00000368195.3	-	13	2964	c.2568G>T	c.(2566-2568)ttG>ttT	p.L856F	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	856	Fibronectin type-III 3.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTACCTCTCCCAAGCGGCGGT	0.617000													34	45					1.59361e-14	2.54649e-14	1	1	0
GALNT8	26290	broad.mit.edu	37	12	4881637	4881637	+	Silent	SNP	C	C	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr12:4881637C>G	ENST00000252318.2	+	11	2125	c.1788C>G	c.(1786-1788)acC>acG	p.T596T		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	596	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ACAGAGATACCAAGCGGTGTC	0.517000													8	65					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579671	55579671	+	Silent	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:55579671C>T	ENST00000333973.2	+	1	818	c.729C>T	c.(727-729)tcC>tcT	p.S243S		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CCTGTGCTTCCCACCTCACAG	0.522000													11	75					0	0	1	0	0
BHLHB9	80823	broad.mit.edu	37	X	102005252	102005252	+	Silent	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:102005252C>A	ENST00000372735.1	+	4	1914	c.1329C>A	c.(1327-1329)gcC>gcA	p.A443A	BHLHB9_ENST00000457056.1_Silent_p.A443A|BHLHB9_ENST00000448867.1_Silent_p.A443A|BHLHB9_ENST00000447531.1_Silent_p.A443A|BHLHB9_ENST00000361229.4_Silent_p.A443A			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	443						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACATTGTTGCCAATTACTTTT	0.363000													7	59					2.0095e-06	2.60646e-06	1	1	0
CEP152	22995	broad.mit.edu	37	15	49059641	49059641	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr15:49059641G>A	ENST00000380950.2	-	16	2225	c.2038C>T	c.(2038-2040)Cag>Tag	p.Q680*	CEP152_ENST00000399334.3_Nonsense_Mutation_p.Q680*|CEP152_ENST00000325747.5_Nonsense_Mutation_p.Q587*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	680					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCATGGTGCTGCTGATAAGTC	0.443000													7	54					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202464470	202464470	+	Missense_Mutation	SNP	C	C	T	rs143792888	byFrequency	TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:202464470C>T	ENST00000406302.3	+	16	2348	c.2195C>T	c.(2194-2196)aCg>aTg	p.T732M	PPP1R12B_ENST00000367270.4_5'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.T732M|PPP1R12B_ENST00000391959.3_5'UTR|PPP1R12B_ENST00000290419.5_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	732					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AAACCCACCACGCCAGCATCT	0.468000													10	142					0	0	1	0	0
HNRNPA3	220988	broad.mit.edu	37	2	178081586	178081586	+	Splice_Site	SNP	A	A	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:178081586A>T	ENST00000411529.2	+	7	724		c.e7-1		HNRNPA3_ENST00000392524.2_Splice_Site|HNRNPA3_ENST00000435711.1_Splice_Site	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3							catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						GTTTTTCCTCAGGAGGCTAtg	0.408000													10	30					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55713588	55713588	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr19:55713588T>A	ENST00000376350.3	-	6	1011	c.989A>T	c.(988-990)tAc>tTc	p.Y330F	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.Y152F	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	330	Fibronectin type-III 4.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTCAACCCCGTAGGTGGAGTT	0.582000													17	85					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10238772	10238772	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:10238772T>C	ENST00000377157.3	+	25	3922	c.2861T>C	c.(2860-2862)aTa>aCa	p.I954T	UBE4B_ENST00000253251.8_Missense_Mutation_p.I1070T|UBE4B_ENST00000343090.6_Missense_Mutation_p.I1199T	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1199					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		AAATCCACAATAGCAATAGAA	0.458000													8	22					0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84208062	84208062	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr9:84208062C>T	ENST00000376499.3	-	15	2523	c.1459G>A	c.(1459-1461)Gtg>Atg	p.V487M		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	487					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ACAGCGCACACCACCTCCCCG	0.637000													44	129					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798836	55798836	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:55798836G>T	ENST00000313555.1	+	1	942	c.942G>T	c.(940-942)tgG>tgT	p.W314C		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CAAATGAATGGTATTTAAATC	0.269000													5	26					0.000157383	0.00018693	1	1	0
RSPRY1	89970	broad.mit.edu	37	16	57265200	57265200	+	Silent	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr16:57265200C>T	ENST00000537866.1	+	13	2371	c.1498C>T	c.(1498-1500)Cta>Tta	p.L500L	RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Silent_p.L500L			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	500						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CTACGCCTTCCTAACAGCTGA	0.338000													6	55					0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41779913	41779913	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr19:41779913A>C	ENST00000392006.3	+	4	772	c.599A>C	c.(598-600)gAa>gCa	p.E200A	HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.E100A|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.E157A|HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.E100A|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.E200A|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.E111A|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.E100A	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	200	B30.2/SPRY.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CCTCCTGCTGAAGAGGATGAA	0.433000													12	59					0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135107399	135107399	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:135107399C>T	ENST00000409645.1	+	10	1388	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L	MGAT5_ENST00000281923.2_Missense_Mutation_p.S379L			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	379					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GTCCTTGATTCATTTGGTACT	0.423000													11	77					0	0	1	0	0
GZF1	64412	broad.mit.edu	37	20	23345777	23345777	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr20:23345777G>T	ENST00000338121.5	+	2	834	c.757G>T	c.(757-759)Ggt>Tgt	p.G253C	GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.G253C			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	253					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AACTGCTGAGGGTGATGTGGG	0.557000													3	47					1	1	1	1	0
C6orf106	64771	broad.mit.edu	37	6	34614502	34614502	+	Silent	SNP	C	C	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr6:34614502C>G	ENST00000374023.3	-	3	630	c.387G>C	c.(385-387)gtG>gtC	p.V129V	C6orf106_ENST00000374021.1_Silent_p.V55V|C6orf106_ENST00000374026.3_Intron	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	129										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						ATCTCACCATCACCATGTTCA	0.517000													38	156					0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197863664	197863664	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:197863664T>G	ENST00000328737.2	-	24	2633	c.2557A>C	c.(2557-2559)Atg>Ctg	p.M853L	ANKRD44_ENST00000337207.5_Missense_Mutation_p.M853L|ANKRD44_ENST00000450567.1_Missense_Mutation_p.M853L|ANKRD44_ENST00000282272.8_Missense_Mutation_p.M870L			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	878							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCAGCAGCCATCATCAGTGCT	0.478000													16	40					0	0	1	0	0
PAIP1	10605	broad.mit.edu	37	5	43535667	43535667	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr5:43535667C>G	ENST00000306846.3	-	7	1280	c.1048G>C	c.(1048-1050)Gaa>Caa	p.E350Q	PAIP1_ENST00000338972.4_Missense_Mutation_p.E238Q|PAIP1_ENST00000436644.2_Missense_Mutation_p.E271Q|PAIP1_ENST00000514514.1_Missense_Mutation_p.E271Q	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	350	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					ACAACGTTTTCAATTCTCTGA	0.348000													11	18					0	0	1	0	0
DDX1	1653	broad.mit.edu	37	2	15760486	15760486	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:15760486G>T	ENST00000381341.2	+	18	1750	c.1361G>T	c.(1360-1362)aGa>aTa	p.R454I	DDX1_ENST00000233084.3_Missense_Mutation_p.R454I			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	454	Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		AAAACTGACAGACTCTGGGAA	0.373000													7	25					0.000157383	0.00018693	1	1	0
OR10K2	391107	broad.mit.edu	37	1	158390131	158390131	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:158390131G>C	ENST00000314902.2	-	1	525	c.526C>G	c.(526-528)Cac>Gac	p.H176D		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CAGAAGAAGTGATGTAGTTGA	0.468000													10	113					0	0	1	0	0
MAGEB4	4115	broad.mit.edu	37	X	30260717	30260717	+	Silent	SNP	T	T	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:30260717T>A	ENST00000378982.2	+	1	661	c.465T>A	c.(463-465)tcT>tcA	p.S155S		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	155	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GGAAAGTCTCTCAGCGCACGG	0.498000													7	23					0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33053211	33053211	+	Silent	SNP	G	G	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr9:33053211G>C	ENST00000397149.3	-	10	1250	c.1200C>G	c.(1198-1200)gtC>gtG	p.V400V	SMU1_ENST00000536631.1_Silent_p.V239V	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	400						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		TCACACTGTTGACGGTAATAT	0.443000													14	70					0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131487520	131487520	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:131487520C>T	ENST00000309926.4	+	1	878	c.796C>T	c.(796-798)Cac>Tac	p.H266Y		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	266						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CCTGCTGATCCACTCAGTGCT	0.567000													24	92					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49955642	49955642	+	Silent	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:49955642G>T	ENST00000376056.2	-	6	2649	c.2499C>A	c.(2497-2499)gcC>gcA	p.A833A	AKAP4_ENST00000358526.2_Silent_p.A842A|AKAP4_ENST00000376064.3_Silent_p.A833A|AKAP4_ENST00000376058.2_Silent_p.A459A|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	842					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ACTGTTTCCTGGCCACCTTTC	0.532000													22	44					3.62473e-10	5.25078e-10	1	1	0
ZFAND1	79752	broad.mit.edu	37	8	82626195	82626195	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr8:82626195C>T	ENST00000220669.5	-	6	456	c.438G>A	c.(436-438)atG>atA	p.M146I	ZFAND1_ENST00000519523.1_Missense_Mutation_p.M146I|ZFAND1_ENST00000522520.1_Missense_Mutation_p.M39I|ZFAND1_ENST00000521287.1_Missense_Mutation_p.M39I|ZFAND1_ENST00000521895.1_Missense_Mutation_p.M39I|ZFAND1_ENST00000523096.1_Missense_Mutation_p.M146I|ZFAND1_ENST00000517588.1_Missense_Mutation_p.M39I	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	146							zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						TCTTTAATTTCATCAATGCAA	0.353000													3	51					0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47685506	47685506	+	Silent	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:47685506G>T	ENST00000371883.3	-	4	1464	c.888C>A	c.(886-888)tcC>tcA	p.S296S	TAL1_ENST00000371884.2_Silent_p.S294S|TAL1_ENST00000294339.3_Silent_p.S294S|TAL1_ENST00000459729.1_5'UTR			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	294					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						CCCCATCCAGGGAGCTGCCGC	0.716000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								5	66					1	1	1	1	0
SERPIND1	3053	broad.mit.edu	37	22	21140420	21140420	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr22:21140420G>T	ENST00000215727.5	+	4	1575	c.1292G>T	c.(1291-1293)aGg>aTg	p.R431M	PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.R431M|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	431					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	TCAGACCAAAGGATCGCCATC	0.562000													9	111					0.000673444	0.000767528	1	1	0
KNTC1	9735	broad.mit.edu	37	12	123082445	123082445	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr12:123082445C>A	ENST00000333479.7	+	44	4700	c.4523C>A	c.(4522-4524)aCa>aAa	p.T1508K	KNTC1_ENST00000545065.1_3'UTR|KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1508					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTGACGAGCACAAAAGATTTG	0.498000													7	58					0.000157383	0.00018693	1	1	0
ATP7A	538	broad.mit.edu	37	X	77244097	77244097	+	Silent	SNP	T	T	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:77244097T>C	ENST00000341514.6	+	3	635	c.480T>C	c.(478-480)tgT>tgC	p.C160C	ATP7A_ENST00000343533.5_Silent_p.C160C|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	160					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CAGGAGCTTGTGAAGATCATA	0.418000													17	99					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202418211	202418211	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:202418211C>T	ENST00000406302.3	+	13	1915	c.1762C>T	c.(1762-1764)Ctt>Ttt	p.L588F	PPP1R12B_ENST00000336894.4_Missense_Mutation_p.L588F	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	588					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	p.L588F(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			CAATCGCCCTCTTCCTAGCAC	0.512000													6	55					0	0	1	0	0
SEMA3B	7869	broad.mit.edu	37	3	50313211	50313211	+	RNA	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr3:50313211C>T	ENST00000418948.1	+	0	2015							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GAGTGTGAGCCCCGCTCGCTG	0.657000													4	23					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543098	133543098	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:133543098C>A	ENST00000409261.1	-	14	1659	c.1286G>T	c.(1285-1287)tGc>tTc	p.C429F	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.C429F	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	429							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CGAGTTCATGCAATCTTTATA	0.448000													7	30					0.0477658	0.0507102	1	1	0
ZIK1	284307	broad.mit.edu	37	19	58102405	58102405	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr19:58102405G>T	ENST00000597850.1	+	4	1441	c.1226G>T	c.(1225-1227)tGt>tTt	p.C409F	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.C396F|ZIK1_ENST00000599456.1_Missense_Mutation_p.C354F	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCTTATAAGTGTGGTGACTGT	0.458000													5	32					1.23904e-05	1.56139e-05	1	1	0
SKIV2L2	23517	broad.mit.edu	37	5	54649077	54649077	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr5:54649077G>T	ENST00000230640.5	+	14	1767	c.1513G>T	c.(1513-1515)Gat>Tat	p.D505Y	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D404Y	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	505	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CCGCAAATTTGATGGGAAGGA	0.338000													22	42					6.44725e-10	9.29604e-10	1	1	0
CLP1	10978	broad.mit.edu	37	11	57427353	57427353	+	Silent	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:57427353C>T	ENST00000533682.1	+	2	1130	c.405C>T	c.(403-405)ctC>ctT	p.L135L	CLP1_ENST00000529430.1_Silent_p.L146L|CLP1_ENST00000525602.1_Silent_p.L135L|CLP1_ENST00000302731.4_Silent_p.L135L			Q92989	CLP1_HUMAN	cleavage and polyadenylation factor I subunit 1	135					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						GCCTTCTGCTCAACTACGCAG	0.597000													4	23					0	0	1	0	0
MED10	84246	broad.mit.edu	37	5	6374488	6374488	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr5:6374488C>A	ENST00000255764.3	-	3	368	c.258G>T	c.(256-258)gaG>gaT	p.E86D		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	86					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						CTAGAGCCCTCTCCAGGCACT	0.423000													60	72					2.84776e-26	4.9876e-26	1	1	0
CREB3L1	90993	broad.mit.edu	37	11	46342033	46342033	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:46342033G>A	ENST00000529193.1	+	11	1928	c.1477G>A	c.(1477-1479)Ggc>Agc	p.G493S	CREB3L1_ENST00000288400.3_Missense_Mutation_p.G493S			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	493					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CGGTGGAAACGGCACCAGCCC	0.637000			T	FUS	myxofibrosarcoma								3	10					0	0	1	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911668	100911668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:100911668C>A	ENST00000328766.5	-	5	1360	c.907G>T	c.(907-909)Gaa>Taa	p.E303*	ARMCX2_ENST00000330154.2_Nonsense_Mutation_p.E303*|ARMCX2_ENST00000356824.4_Nonsense_Mutation_p.E303*	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	303						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TCGTCTACTTCAACTTTGCTT	0.597000													24	100					9.22233e-05	0.000112115	1	1	0
CAMTA1	23261	broad.mit.edu	37	1	7792638	7792638	+	Silent	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:7792638G>T	ENST00000303635.7	+	12	3252	c.3045G>T	c.(3043-3045)ggG>ggT	p.G1015G	CAMTA1_ENST00000439411.2_Silent_p.G1015G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1015					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCGGGAGCGGGAATGGAGGGA	0.632000			T	WWTR1	epitheliod hemangioendothelioma								3	10					1.23904e-05	1.56139e-05	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26294422	26294422	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr22:26294422A>G	ENST00000335473.7	+	29	5067	c.4817A>G	c.(4816-4818)cAg>cGg	p.Q1606R	CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000453457.2_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.Q1607R|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.Q1606R	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1606	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAGAAGAAGCAGAAGAAGTGA	0.522000													8	80					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637204	248637204	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:248637204G>T	ENST00000359594.2	+	1	578	c.553G>T	c.(553-555)Gag>Tag	p.E185*		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTTTTCTGTGAGACTCCTGC	0.517000													7	45					3.09899e-07	4.14089e-07	1	1	0
USH2A	7399	broad.mit.edu	37	1	215972392	215972392	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:215972392G>T	ENST00000366943.2	-	50	10201	c.9815C>A	c.(9814-9816)cCg>cAg	p.P3272Q	USH2A_ENST00000307340.3_Missense_Mutation_p.P3272Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3272					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTGGAGTACGGCATTCTGCC	0.483000										HNSCC(13;0.011)			18	31					1.67942e-08	2.33461e-08	1	1	0
DDX11	1663	broad.mit.edu	37	12	31236747	31236747	+	Splice_Site	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr12:31236747G>T	ENST00000251758.5	+	3	396	c.144_splice	c.e3-1	p.G49_splice	DDX11_ENST00000545668.1_Splice_Site_p.G49_splice|DDX11_ENST00000542838.1_Splice_Site_p.G49_splice|DDX11_ENST00000350437.4_Splice_Site_p.G49_splice|DDX11_ENST00000407793.2_Splice_Site_p.G49_splice|DDX11_ENST00000228264.6_Splice_Site_p.G23_splice			Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	49	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CTTCCTGCAGGGGAAGTCCTT	0.443000										Multiple Myeloma(12;0.14)			4	42					8.12818e-05	9.92022e-05	1	1	0
GPR151	134391	broad.mit.edu	37	5	145895474	145895474	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr5:145895474C>A	ENST00000311104.2	-	1	279	c.203G>T	c.(202-204)gGa>gTa	p.G68V		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	68						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGATGGCTTTCCTTTCCAAGC	0.537000													4	54					0.150653	0.155158	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	A	rs121913500		TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:209113112C>A	ENST00000415913.1	-	4	776	c.395G>T	c.(394-396)cGt>cTt	p.R132L	IDH1_ENST00000446179.1_Missense_Mutation_p.R132L|IDH1_ENST00000345146.2_Missense_Mutation_p.R132L			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								11	54					1.15088e-07	1.55796e-07	1	1	0
GUCY2F	2986	broad.mit.edu	37	X	108641894	108641894	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:108641894G>T	ENST00000218006.2	-	11	2450	c.2159C>A	c.(2158-2160)gCt>gAt	p.A720D		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	720	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCCTCTTGGAGCTCTCAACAG	0.478000													7	28					0.27861	0.285047	1	1	0
PCDHA8	56140	broad.mit.edu	37	5	140222139	140222139	+	Silent	SNP	C	C	T	rs147149527	byFrequency	TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr5:140222139C>T	ENST00000531613.1	+	1	1233	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	PCDHA8_ENST00000378123.3_Silent_p.S411S|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_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)			TGCTGGACAGCGCCCTGGACC	0.627000													6	216					0	0	1	0	0
WDR13	64743	broad.mit.edu	37	X	48460174	48460174	+	Silent	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:48460174G>T	ENST00000218056.5	+	6	1339	c.834G>T	c.(832-834)gtG>gtT	p.V278V		NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	278						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CCCCACAGGTGGGGAACGCCA	0.587000													7	24					2.52707e-12	3.85907e-12	1	1	0
RAI2	10742	broad.mit.edu	37	X	17818601	17818601	+	Silent	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:17818601G>T	ENST00000545871.1	-	3	1990	c.1530C>A	c.(1528-1530)tcC>tcA	p.S510S	RAI2_ENST00000451717.1_Silent_p.S510S|RAI2_ENST00000415486.3_Silent_p.S460S|RAI2_ENST00000360011.1_Silent_p.S510S|RAI2_ENST00000331511.1_Silent_p.S510S	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	510					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GTATTTCCTGGGAGTTCACTT	0.403000													54	277					2.34445e-45	4.12943e-45	1	1	0
PLXNC1	10154	broad.mit.edu	37	12	94634438	94634438	+	Silent	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr12:94634438C>A	ENST00000258526.4	+	11	2547	c.2298C>A	c.(2296-2298)atC>atA	p.I766I		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	766					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCACCTGGATCAGGTACTTTC	0.388000													15	68					2.31682e-05	2.87286e-05	1	1	0
SLC17A6	57084	broad.mit.edu	37	11	22399021	22399021	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:22399021C>A	ENST00000263160.3	+	12	1921	c.1484C>A	c.(1483-1485)gCa>gAa	p.A495E		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	495					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ATATTTTATGCAATATTTGCC	0.438000													7	39					5.18039e-06	6.66357e-06	1	1	0
TRPA1	8989	broad.mit.edu	37	8	72975766	72975766	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr8:72975766C>G	ENST00000262209.4	-	5	800	c.593G>C	c.(592-594)gGa>gCa	p.G198A		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	198						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AGGGAAACATCCCCATTTATT	0.363000													15	34					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86868949	86868949	+	Missense_Mutation	SNP	C	C	A	rs146051966	byFrequency	TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:86868949C>A	ENST00000373119.4	+	2	637	c.492C>A	c.(490-492)caC>caA	p.H164Q	KLHL4_ENST00000373114.4_Missense_Mutation_p.H164Q	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	164						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TTATAAACCACGCAGAGCAAA	0.423000													15	64					0.000308642	0.000363799	1	1	0
SMOC1	64093	broad.mit.edu	37	14	70442456	70442456	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr14:70442456T>A	ENST00000381280.4	+	4	656	c.403T>A	c.(403-405)Tac>Aac	p.Y135N	SMOC1_ENST00000361956.3_Missense_Mutation_p.Y135N	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	135	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TTACACTGGGTACTGCTGGTG	0.502000													11	55					0	0	1	0	0
WDR13	64743	broad.mit.edu	37	X	48457261	48457261	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:48457261C>A	ENST00000218056.5	+	2	703	c.198C>A	c.(196-198)taC>taA	p.Y66*	WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	66						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						GCCAGCGCTACGGGCCCCTCT	0.677000													7	28					0.000157383	0.00018693	1	1	0
CBLN1	869	broad.mit.edu	37	16	49313330	49313330	+	Silent	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr16:49313330C>A	ENST00000219197.6	-	3	932	c.567G>T	c.(565-567)ctG>ctT	p.L189L	CBLN1_ENST00000536749.1_Silent_p.L189L	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	189	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).				nervous system development|synaptic transmission	cell junction|extracellular region|synapse				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				GAGGAAACACCAGGAATCCGG	0.562000													13	73					1.67942e-08	2.33461e-08	1	1	0
ABAT	18	broad.mit.edu	37	16	8868846	8868846	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr16:8868846G>T	ENST00000396600.2	+	13	1992	c.1054G>T	c.(1054-1056)Gtg>Ttg	p.V352L	ABAT_ENST00000425191.2_Missense_Mutation_p.V352L|ABAT_ENST00000567812.1_Missense_Mutation_p.V367L|ABAT_ENST00000268251.8_Missense_Mutation_p.V352L|ABAT_ENST00000569156.1_Missense_Mutation_p.V352L	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	352					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CCCAGCAGACGTGATGACCTT	0.582000													11	48					2.61681e-11	3.90006e-11	1	1	0
CLEC1A	51267	broad.mit.edu	37	12	10228148	10228148	+	Silent	SNP	A	A	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr12:10228148A>C	ENST00000315330.4	-	4	560	c.498T>G	c.(496-498)ctT>ctG	p.L166L	CLEC1A_ENST00000420265.2_Silent_p.L74L|CLEC1A_ENST00000457018.2_Silent_p.L133L	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	166	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						AGTTTTCACTAAGGCAGAAAT	0.393000													26	47					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21607362	21607362	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr19:21607362G>T	ENST00000392288.2	+	4	2010	c.1901G>T	c.(1900-1902)tGt>tTt	p.C634F	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.C506F	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TGTGAAGAATGTGGCAAAGCT	0.383000													3	41					0.115264	0.119906	1	1	0
MCM5	4174	broad.mit.edu	37	22	35817363	35817363	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr22:35817363C>T	ENST00000216122.4	+	15	2039	c.1885C>T	c.(1885-1887)Cag>Tag	p.Q629*	MCM5_ENST00000382011.5_Nonsense_Mutation_p.Q586*	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	629					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	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GATGAAGCTGCAGCCCTTCGC	0.622000													16	67					0	0	1	0	0
ZIC5	85416	broad.mit.edu	37	13	100617983	100617983	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr13:100617983C>A	ENST00000267294.4	-	2	1873	c.1640G>T	c.(1639-1641)aGt>aTt	p.S547I		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	547					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGCTTGTCACTGGTGTGGAC	0.488000													9	67					0.00829132	0.00914701	1	1	0
PGBD1	84547	broad.mit.edu	37	6	28269741	28269741	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr6:28269741A>T	ENST00000405948.2	+	7	2530	c.2110A>T	c.(2110-2112)Ata>Tta	p.I704L	PGBD1_ENST00000259883.3_Missense_Mutation_p.I704L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	704					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TGCTGTGGGCATAGAACCAGT	0.403000													18	133					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100481745	100481745	+	Silent	SNP	G	G	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr7:100481745G>C	ENST00000388793.4	+	6	862	c.642G>C	c.(640-642)cgG>cgC	p.R214R	SRRT_ENST00000457580.2_Silent_p.R214R|SRRT_ENST00000432932.1_Silent_p.R214R|SRRT_ENST00000347433.4_Silent_p.R214R	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	214					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGGAGGCCCGGGGGGCCCTGC	0.557000													11	49					0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46627923	46627923	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr17:46627923C>A	ENST00000470495.1	-	2	2516	c.1069G>T	c.(1069-1071)Ggc>Tgc	p.G357C	HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.G225C|HOXB3_ENST00000498678.1_Missense_Mutation_p.G357C|HOXB3_ENST00000476342.1_Missense_Mutation_p.G357C|HOXB3_ENST00000472863.1_Missense_Mutation_p.G284C|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.G225C|HOXB3_ENST00000311626.4_Missense_Mutation_p.G357C|HOXB3_ENST00000490677.1_Missense_Mutation_p.G223C|HOXB3_ENST00000489475.1_Missense_Mutation_p.G284C			P14651	HXB3_HUMAN	homeobox B3	357					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TCCGCGTAGCCGCCCCCGCCC	0.716000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	6					0.0381472	0.0409192	1	1	0
ZNF221	7638	broad.mit.edu	37	19	44470922	44470922	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr19:44470922A>T	ENST00000251269.5	+	6	1596	c.1268A>T	c.(1267-1269)aAa>aTa	p.K423I	ZNF221_ENST00000587682.1_Missense_Mutation_p.K423I|ZNF221_ENST00000592350.1_Missense_Mutation_p.K423I	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AAATCCTTCAAATGTGAAGAA	0.413000													10	36					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81768487	81768487	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr12:81768487G>T	ENST00000550584.2	-	10	1487	c.1192C>A	c.(1192-1194)Cag>Aag	p.Q398K	PPFIA2_ENST00000333447.7_Missense_Mutation_p.Q380K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.Q398K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.Q245K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.Q299K|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.Q380K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.Q398K|PPFIA2_ENST00000549396.1_Missense_Mutation_p.Q398K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.Q324K	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	324										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTCATGGTCTGCTGCAACTTT	0.458000													5	27					0.000602214	0.000694002	1	1	0
CCDC129	223075	broad.mit.edu	37	7	31682641	31682641	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr7:31682641G>T	ENST00000319386.3	+	11	2206	c.1213G>T	c.(1213-1215)Gtc>Ttc	p.V405F	CCDC129_ENST00000409210.1_Missense_Mutation_p.V461F|CCDC129_ENST00000451887.2_Missense_Mutation_p.V579F|CCDC129_ENST00000407970.3_Missense_Mutation_p.V553F			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	553										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGAGTATGAGGTCACCAGACC	0.547000													32	118					4.62619e-21	8.01184e-21	1	1	0
KCNT1	57582	broad.mit.edu	37	9	138651666	138651666	+	Silent	SNP	C	C	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr9:138651666C>G	ENST00000298480.5	+	11	1070	c.996C>G	c.(994-996)gtC>gtG	p.V332V	KCNT1_ENST00000491806.2_Silent_p.V299V|KCNT1_ENST00000486577.2_Silent_p.V293V|KCNT1_ENST00000487664.1_Silent_p.V287V|KCNT1_ENST00000263604.3_Silent_p.V313V|KCNT1_ENST00000488444.2_Silent_p.V313V|KCNT1_ENST00000490355.2_Silent_p.V313V|KCNT1_ENST00000371757.2_Silent_p.V332V			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	332						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TGCTGGTGGTCATCATGATCT	0.632000													5	27					0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	218999803	218999803	+	Silent	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:218999803C>A	ENST00000318507.2	+	3	706	c.279C>A	c.(277-279)gcC>gcA	p.A93A		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	93					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TAGCCTTGGCCGACCTACTCT	0.572000													26	107					8.58068e-18	1.44566e-17	1	1	0
NMNAT2	23057	broad.mit.edu	37	1	183221856	183221856	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:183221856C>T	ENST00000287713.6	-	11	1178	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	NMNAT2_ENST00000294868.4_Missense_Mutation_p.G277S	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	282					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	p.G282S(3)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						ACAACATGGCCGTCCCCATGC	0.582000													32	53					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073431	134073431	+	Silent	SNP	A	A	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr4:134073431A>G	ENST00000264360.4	+	1	2962	c.2136A>G	c.(2134-2136)ctA>ctG	p.L712L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	712					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AAACCTCGCTAGACCTCACCC	0.662000													10	64					0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231298752	231298752	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:231298752C>G	ENST00000444294.3	+	1	895	c.37C>G	c.(37-39)Ctg>Gtg	p.L13V	TRIM67_ENST00000366652.2_Missense_Mutation_p.L13V|TRIM67_ENST00000449018.3_Missense_Mutation_p.L13V|TRIM67_ENST00000366653.5_Missense_Mutation_p.L13V	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	13						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GTGCGGCTCTCTGTTTCGGGA	0.667000													3	23					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123175486	123175486	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr4:123175486C>G	ENST00000264501.4	+	38	6432	c.6059C>G	c.(6058-6060)aCa>aGa	p.T2020R	KIAA1109_ENST00000455637.1_Missense_Mutation_p.T2020R|KIAA1109_ENST00000388738.3_Missense_Mutation_p.T2020R			Q2LD37	K1109_HUMAN	KIAA1109	2020					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGATCTCACACACATGCATTT	0.323000													8	34					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133220029	133220029	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr12:133220029T>A	ENST00000320574.5	-	34	4451	c.4408A>T	c.(4408-4410)Atg>Ttg	p.M1470L	POLE_ENST00000535270.1_Missense_Mutation_p.M1443L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1470					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AGAGAGCGCATCTCCAGGTGC	0.597000								DNA polymerases (catalytic subunits)					7	93					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798471	55798471	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:55798471C>A	ENST00000313555.1	+	1	577	c.577C>A	c.(577-579)Cag>Aag	p.Q193K		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TACAGACACTCAGATCAACCA	0.418000													28	206					3.76114e-14	5.97924e-14	1	1	0
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr16:90126823T>G	ENST00000449207.2	-	9	1178	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	387						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522000													5	74					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83739879	83739879	+	Silent	SNP	T	T	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr7:83739879T>A	ENST00000265362.3	-	4	674	c.360A>T	c.(358-360)gtA>gtT	p.V120V	SEMA3A_ENST00000436949.1_Silent_p.V120V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	120	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATGCCTTAAGTACCTTGATGA	0.428000													13	58					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67953299	67953299	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:67953299C>G	ENST00000304363.4	-	3	610	c.257G>C	c.(256-258)aGt>aCt	p.S86T	SUV420H1_ENST00000402185.2_Missense_Mutation_p.S86T|SUV420H1_ENST00000401547.2_Missense_Mutation_p.S86T|SUV420H1_ENST00000402789.1_Missense_Mutation_p.S86T|SUV420H1_ENST00000405515.1_Missense_Mutation_p.S86T	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AAGAACCAAACTGGTTGCTAG	0.393000													12	50					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904213	5904213	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr20:5904213G>T	ENST00000378961.4	+	4	1627	c.1423G>T	c.(1423-1425)Ggt>Tgt	p.G475C		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	475						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TCTCAACTACGGTGAGGAAGG	0.512000													3	85					1	1	1	1	0
ME3	10873	broad.mit.edu	37	11	86209163	86209163	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:86209163C>A	ENST00000543262.1	-	6	873	c.547G>T	c.(547-549)Gtg>Ttg	p.V183L	ME3_ENST00000359636.2_Missense_Mutation_p.V183L|ME3_ENST00000525957.1_5'UTR|ME3_ENST00000393324.3_Missense_Mutation_p.V183L|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000323418.6_Missense_Mutation_p.V121L	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	183					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GTCACCACCACGGCCTGAAAA	0.622000													10	69					2.27111e-07	3.06106e-07	1	1	0
ZCCHC16	340595	broad.mit.edu	37	X	111698533	111698533	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:111698533C>T	ENST00000340433.2	+	1	807	c.577C>T	c.(577-579)Cag>Tag	p.Q193*		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	193							nucleic acid binding|zinc ion binding	p.Q193K(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGATCCCAACCAGGATGAAGA	0.473000													19	76					0	0	1	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86491764	86491764	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr4:86491764G>T	ENST00000395184.1	+	2	536	c.70G>T	c.(70-72)Ggg>Tgg	p.G24W	ARHGAP24_ENST00000506421.1_3'UTR|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.G24W	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	24	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CATCAAGTGTGGGTGGCTGAG	0.488000													7	44					0.00307968	0.00344657	1	1	0
FAT3	120114	broad.mit.edu	37	11	92086148	92086148	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:92086148A>T	ENST00000298047.6	+	1	887	c.870A>T	c.(868-870)ttA>ttT	p.L290F	FAT3_ENST00000541502.1_Missense_Mutation_p.L290F|FAT3_ENST00000409404.2_Missense_Mutation_p.L290F|FAT3_ENST00000525166.1_Missense_Mutation_p.L140F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	290	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTGATGACTTAGATGATGGAG	0.443000										TCGA Ovarian(4;0.039)			3	37					0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65571931	65571931	+	Silent	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:65571931C>A	ENST00000356388.4	-	2	315	c.126G>T	c.(124-126)ggG>ggT	p.G42G	SPRED2_ENST00000474228.1_5'UTR|SPRED2_ENST00000443619.2_Silent_p.G39G	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	42	WH1.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CCTTACAGACCCCGACGCGAC	0.542000													13	29					4.3838e-07	5.78289e-07	1	1	0
IL13	3596	broad.mit.edu	37	5	131995902	131995902	+	Silent	SNP	C	C	A	rs78628956	by1000genomes	TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr5:131995902C>A	ENST00000304506.3	+	4	383	c.369C>A	c.(367-369)atC>atA	p.I123I	IL13_ENST00000468334.1_3'UTR|AC004041.2_ENST00000435042.1_RNA	NM_002188.2	NP_002179.2	P35225	IL13_HUMAN	interleukin 13	123					cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)|ovary(1)|skin(3)	6		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACACCAAAATCGAGGTGGCCC	0.483000													3	37					0.004672	0.00517257	1	1	0
CCDC60	160777	broad.mit.edu	37	12	119772994	119772994	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr12:119772994C>A	ENST00000327554.2	+	1	478	c.13C>A	c.(13-15)Cca>Aca	p.P5T	CCDC60_ENST00000539847.1_Missense_Mutation_p.P5T|CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000536742.1_Missense_Mutation_p.P5T	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	5										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GACCAAGGTTCCAGCCACCAA	0.493000													4	62					0.00909568	0.0099988	1	1	0
CDC27	996	broad.mit.edu	37	17	45219643	45219643	+	Missense_Mutation	SNP	T	T	C	rs77510601		TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr17:45219643T>C	ENST00000066544.3	-	11	1423	c.1330A>G	c.(1330-1332)Aca>Gca	p.T444A	CDC27_ENST00000531206.1_Missense_Mutation_p.T450A|CDC27_ENST00000527547.1_Missense_Mutation_p.T444A|CDC27_ENST00000446365.2_Missense_Mutation_p.T383A	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	444					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GGTGTGATTGTGGATATTTTC	0.308000													4	30					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62303495	62303495	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:62303495C>A	ENST00000378024.4	-	3	350	c.76G>T	c.(76-78)Gcc>Tcc	p.A26S	AHNAK_ENST00000530124.1_Missense_Mutation_p.A26S|AHNAK_ENST00000257247.7_Missense_Mutation_p.A26S	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	26	PDZ.				nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCCTCTGGGCGATGGTCAGC	0.637000													8	54					7.48243e-07	9.74602e-07	1	1	0
F8	2157	broad.mit.edu	37	X	154158272	154158272	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:154158272G>T	ENST00000360256.4	-	14	3993	c.3793C>A	c.(3793-3795)Cca>Aca	p.P1265T		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1265	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)	TGAAGTACTGGAGCATATGCC	0.373000													9	44					1.76689e-08	2.43439e-08	1	1	0
USP9X	8239	broad.mit.edu	37	X	41089775	41089775	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:41089775C>A	ENST00000324545.7	+	44	8134	c.7501C>A	c.(7501-7503)Cca>Aca	p.P2501T	USP9X_ENST00000378308.2_Missense_Mutation_p.P2485T	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2501					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CCAAGATGCTCCAGATGAACA	0.373000													10	61					1.11149e-13	1.75797e-13	1	1	0
DGKK	139189	broad.mit.edu	37	X	50213148	50213148	+	RNA	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:50213148G>T	ENST00000376025.2	-	0	589							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ACATGGTGCTGGACTTGGACG	0.612000													4	21					0.000602214	0.000694002	1	1	0
STAB1	23166	broad.mit.edu	37	3	52557091	52557091	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr3:52557091T>C	ENST00000321725.6	+	63	7037	c.6961T>C	c.(6961-6963)Tgc>Cgc	p.C2321R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2321					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)		GATCAGCACGTGCAATGGGAA	0.622000													12	133					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086663	39086663	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr21:39086663G>T	ENST00000400482.3	-	3	1386	c.797C>A	c.(796-798)aCg>aAg	p.T266K	KCNJ6_ENST00000288309.6_Missense_Mutation_p.T266K	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	266					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)	GTCATCCCCCGTGTAATACCC	0.507000													29	70					1.06647e-15	1.74003e-15	1	1	0
TMED10	10972	broad.mit.edu	37	14	75614413	75614413	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr14:75614413A>T	ENST00000303575.4	-	3	416	c.365T>A	c.(364-366)gTg>gAg	p.V122E	TMED10_ENST00000557670.1_5'UTR	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	122	GOLD.				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		GTCTAGGATCACGAGTTGGTC	0.483000													48	172					0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73352425	73352425	+	Silent	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr13:73352425C>T	ENST00000377767.4	-	3	580	c.480G>A	c.(478-480)ttG>ttA	p.L160L	DIS3_ENST00000545453.1_5'UTR|DIS3_ENST00000377780.4_Silent_p.L130L	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	160	PINc.				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ACATTTTTTTCAAATGTTCAT	0.373000										Multiple Myeloma(4;0.011)			4	27					0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80543836	80543836	+	Missense_Mutation	SNP	G	G	T	rs139089969		TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr17:80543836G>T	ENST00000335255.5	+	7	1510	c.1336G>T	c.(1336-1338)Gcc>Tcc	p.A446S		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	446					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			GCTACCACAGGCCATCAAGCC	0.587000													31	77					1.36615e-20	2.33981e-20	1	1	0
SLIT2	9353	broad.mit.edu	37	4	20469408	20469408	+	Silent	SNP	A	A	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr4:20469408A>T	ENST00000504154.1	+	5	681	c.429A>T	c.(427-429)ccA>ccT	p.P143P	SLIT2_ENST00000503837.1_Silent_p.P143P|SLIT2_ENST00000273739.5_Silent_p.P143P|SLIT2_ENST00000503823.1_Silent_p.P143P	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	143					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGGCAATCCCAAGGAAAGCTT	0.274000													5	21					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	20992805	20992805	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:20992805A>T	ENST00000247986.2	-	14	3123	c.2813T>A	c.(2812-2814)cTc>cAc	p.L938H	KIF17_ENST00000375044.1_Missense_Mutation_p.L838H|KIF17_ENST00000400463.3_Missense_Mutation_p.L937H|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	938					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		ACTGAGCATGAGCCTGTAGCG	0.597000													33	101					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227945211	227945211	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:227945211C>A	ENST00000396625.3	-	24	1958	c.1751G>T	c.(1750-1752)gGa>gTa	p.G584V	COL4A4_ENST00000329662.7_Missense_Mutation_p.G584V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	584	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCATGTGATCCTGGCTGCCC	0.473000													29	101					0.000339439	0.000398583	1	1	0
FOLH1B	219595	broad.mit.edu	37	11	89405081	89405081	+	RNA	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:89405081C>A	ENST00000532352.1	+	0	1021							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						GGGAGGTCACCGGGACTCATG	0.418000													5	44					3.59834e-05	4.44416e-05	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66242723	66242723	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr4:66242723G>C	ENST00000273854.3	-	9	2449	c.1849C>G	c.(1849-1851)Cta>Gta	p.L617V	EPHA5_ENST00000354839.4_Intron|EPHA5_ENST00000432638.2_Missense_Mutation_p.L454V|EPHA5_ENST00000511294.1_Missense_Mutation_p.L618V	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	617					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AACCATATTAGGCTTGGATGG	0.473000										TSP Lung(17;0.13)			3	23					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27777771	27777771	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr15:27777771C>A	ENST00000333743.6	+	10	1402	c.1148C>A	c.(1147-1149)cCa>cAa	p.P383Q	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	383					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GACATGAGGCCACCACCAACT	0.433000													7	27					8.12818e-05	9.92022e-05	1	1	0
GPR171	29909	broad.mit.edu	37	3	150917131	150917131	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr3:150917131C>G	ENST00000309180.5	-	3	273	c.43G>C	c.(43-45)Gag>Cag	p.E15Q	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	15						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTGAATGGCTCCAGATCTTTA	0.348000													7	31					0	0	1	0	0
P2RY10	27334	broad.mit.edu	37	X	78216608	78216608	+	Silent	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:78216608G>T	ENST00000171757.2	+	4	871	c.591G>T	c.(589-591)ggG>ggT	p.G197G	P2RY10_ENST00000544091.1_Silent_p.G197G	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	197						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CGTTGGTCGGGATGATTACAG	0.453000													4	58					0.0215528	0.0235259	1	1	0
SPATA31E1	286234	broad.mit.edu	37	9	90501513	90501513	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr9:90501513A>G	ENST00000325643.5	+	4	2177	c.2111A>G	c.(2110-2112)gAc>gGc	p.D704G		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		AGGTTCTCTGACAAGGGGTGC	0.597000													19	44					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25370318	25370318	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr13:25370318C>A	ENST00000255324.5	+	11	1336	c.1284C>A	c.(1282-1284)tgC>tgA	p.C428*	RNF17_ENST00000381921.1_Nonsense_Mutation_p.C428*|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Nonsense_Mutation_p.C429*	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	428					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TAGATCCTTGCCATTTCTACA	0.348000													4	56					1	1	1	1	0
KLHDC8A	55220	broad.mit.edu	37	1	205312401	205312401	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:205312401C>T	ENST00000367156.3	-	5	1148	c.332G>A	c.(331-333)aGc>aAc	p.S111N	KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.S111N|KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.S111N	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	111										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACGCAGCATGCTCCTCTTCTT	0.622000													13	190					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027156	37027156	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647000													6	62					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77761908	77761908	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr8:77761908A>G	ENST00000521891.2	+	8	4254	c.3806A>G	c.(3805-3807)cAc>cGc	p.H1269R	ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1224R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1243R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1224R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1224						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACGCATTTGCACAGTGTGTCT	0.463000										HNSCC(33;0.089)			6	27					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158412698	158412698	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:158412698C>T	ENST00000243349.7	-	3	811	c.451G>A	c.(451-453)Gtg>Atg	p.V151M	ACVR1C_ENST00000409680.3_Missense_Mutation_p.V101M|ACVR1C_ENST00000335450.7_Intron|ACVR1C_ENST00000348328.5_Intron	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	151					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	p.V151L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GGTTCCTCCACATTTGGTCTC	0.478000													7	25					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715076	165715076	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr6:165715076G>T	ENST00000543069.1	-	2	1004	c.423C>A	c.(421-423)caC>caA	p.H141Q	C6orf118_ENST00000230301.8_Missense_Mutation_p.H245Q			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	245										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GCTTTCTCTCGTGGCCCGCGG	0.602000													10	49					6.40141e-05	7.87475e-05	1	1	0
BPIFB3	359710	broad.mit.edu	37	20	31644416	31644416	+	Silent	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr20:31644416C>A	ENST00000375494.3	+	2	193	c.193C>A	c.(193-195)Cgg>Agg	p.R65R		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	65	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										AGCTGTGAACCGGGGCCTCTT	0.607000													18	50					1.01871e-10	1.51101e-10	1	1	0
FAM127A	8933	broad.mit.edu	37	X	134166554	134166554	+	Silent	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:134166554G>T	ENST00000257013.7	+	1	222	c.141G>T	c.(139-141)acG>acT	p.T47T	FAM127A_ENST00000464369.1_3'UTR	NM_001078171.1	NP_001071639.1	A6ZKI3	F127A_HUMAN	family with sequence similarity 127, member A	47										endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TCGTGCAGACGGGCTCCTACA	0.637000													16	71					1.96292e-10	2.85684e-10	1	1	0
AASDH	132949	broad.mit.edu	37	4	57215650	57215650	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr4:57215650T>A	ENST00000205214.6	-	11	2447	c.2267A>T	c.(2266-2268)cAt>cTt	p.H756L	AASDH_ENST00000502617.1_Missense_Mutation_p.H756L|AASDH_ENST00000434343.2_Missense_Mutation_p.H271L|AASDH_ENST00000513376.1_Missense_Mutation_p.H656L|AASDH_ENST00000602986.1_Missense_Mutation_p.H603L|AASDH_ENST00000451613.1_Missense_Mutation_p.H756L	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	756					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CCACCTCACATGTAACTCCAT	0.433000													14	81					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744391	70744391	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr8:70744391C>A	ENST00000260126.3	-	2	1224	c.518G>T	c.(517-519)tGc>tTc	p.C173F	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.C173F|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.C173F	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	173						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GATGTCAAAGCAGCTGACCAG	0.612000													8	41					1.12685e-05	1.43165e-05	1	1	0
NAA10	8260	broad.mit.edu	37	X	153197846	153197846	+	Silent	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:153197846C>T	ENST00000464845.1	-	5	582	c.264G>A	c.(262-264)caG>caA	p.Q88Q	NAA10_ENST00000370015.4_Silent_p.Q88Q|NAA10_ENST00000393710.3_5'UTR|NAA10_ENST00000393712.3_Silent_p.Q88Q|NAA10_ENST00000370009.1_Silent_p.Q88Q	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	88	N-acetyltransferase.				DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						CCATCAGTTTCTGAGCCAGAC	0.587000													3	41					0	0	1	0	0
ZDHHC12	84885	broad.mit.edu	37	9	131484063	131484063	+	Missense_Mutation	SNP	G	G	T	rs113339803		TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr9:131484063G>T	ENST00000372667.5	-	4	420	c.391C>A	c.(391-393)Cgc>Agc	p.R131S	ZDHHC12_ENST00000372663.4_Missense_Mutation_p.R117S|ZDHHC12_ENST00000467312.1_5'UTR|ZDHHC12_ENST00000372672.2_Missense_Mutation_p.R117S			Q96GR4	ZDH12_HUMAN	zinc finger, DHHC-type containing 12	117						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						ACGCAACGGCGGCACTCACGG	0.662000													19	75					2.27731e-05	2.8352e-05	1	1	0
EDNRB	1910	broad.mit.edu	37	13	78474780	78474780	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr13:78474780C>A	ENST00000377211.4	-	6	1383	c.1231G>T	c.(1231-1233)Gtg>Ttg	p.V411L	EDNRB_ENST00000446573.1_Missense_Mutation_p.V321L|EDNRB_ENST00000334286.5_Missense_Mutation_p.V321L	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	321					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GTTTTGGCCACTTCCCGTCTC	0.408000													4	26					0.150653	0.155158	1	1	0
SPTAN1	6709	broad.mit.edu	37	9	131390214	131390214	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr9:131390214C>G	ENST00000372739.3	+	51	6810	c.6700C>G	c.(6700-6702)Ctc>Gtc	p.L2234V	SPTAN1_ENST00000358161.5_Intron|SPTAN1_ENST00000372731.4_Missense_Mutation_p.L2229V	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2229					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GACATACCTCCTCGATGGGTT	0.567000													37	453					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61516014	61516014	+	Splice_Site	SNP	T	T	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:61516014T>G	ENST00000398571.2	-	34	4625		c.e34-2			NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34						positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TAGCTGCCACTGTAAATGAGA	0.338000													13	52					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319335	21319335	+	Silent	SNP	T	T	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr17:21319335T>C	ENST00000583088.1	+	3	1576	c.681T>C	c.(679-681)caT>caC	p.H227H	KCNJ12_ENST00000331718.5_Silent_p.H227H	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TGGAGGCCCATGTGCGCGCGC	0.642000										Prostate(3;0.18)			17	48					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102483598	102483598	+	Silent	SNP	T	T	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr14:102483598T>C	ENST00000360184.4	+	39	8186	c.8022T>C	c.(8020-8022)taT>taC	p.Y2674Y		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2674	AAA 3 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGGATAAATATGGGACCCAGA	0.453000													17	59					0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15762612	15762612	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr3:15762612C>T	ENST00000399451.2	-	8	1083	c.716G>A	c.(715-717)gGa>gAa	p.G239E	ANKRD28_ENST00000383777.1_Missense_Mutation_p.G272E|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	239						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AGGTGTATTTCCATAGGCATT	0.338000													17	195					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140752183	140752183	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr5:140752183C>A	ENST00000576222.1	+	1	2353	c.2222C>A	c.(2221-2223)cCc>cAc	p.P741H	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGTTCTCCCCACCTACAGC	0.498000													13	40					3.27435e-08	4.45197e-08	1	1	0
FMO3	2328	broad.mit.edu	37	1	171077352	171077352	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:171077352C>G	ENST00000367755.4	+	5	728	c.617C>G	c.(616-618)aCa>aGa	p.T206R	FMO3_ENST00000542847.1_Missense_Mutation_p.T186R|FMO3_ENST00000392085.2_Missense_Mutation_p.T206R|FMO3_ENST00000538429.1_Missense_Mutation_p.T143R	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	206					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCAGCCGCACAGCAGAACAG	0.502000													19	51					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165947802	165947802	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:165947802G>C	ENST00000360093.3	-	28	5352	c.4861C>G	c.(4861-4863)Cga>Gga	p.R1621G	SCN3A_ENST00000283254.7_Missense_Mutation_p.R1621G|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000540861.1_Missense_Mutation_p.R104G|SCN3A_ENST00000409101.3_Missense_Mutation_p.R1572G	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1621						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1621*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CGGATCACTCGGAACAAGGTA	0.448000													26	94					0	0	1	0	0
EPS8L2	64787	broad.mit.edu	37	11	721571	721571	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:721571C>G	ENST00000533256.1	+	11	1150	c.775C>G	c.(775-777)Ctc>Gtc	p.L259V	EPS8L2_ENST00000530636.1_Missense_Mutation_p.L259V|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Missense_Mutation_p.L259V|EPS8L2_ENST00000526198.1_Missense_Mutation_p.L275V			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	259						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGCAAATCCTCAACTGCGC	0.632000													3	15					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17593303	17593303	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:17593303T>G	ENST00000375460.3	+	5	538	c.498T>G	c.(496-498)aaT>aaG	p.N166K		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	166					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TCCAGGACAATTGTGACCAGC	0.617000													22	90					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79387384	79387384	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:79387384G>T	ENST00000370742.3	-	9	1234	c.1171C>A	c.(1171-1173)Ctg>Atg	p.L391M		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	391	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GAGTATGTCAGCTCACAGCCC	0.423000													17	61					6.49762e-13	1.00212e-12	1	1	0
L1CAM	3897	broad.mit.edu	37	X	153128302	153128302	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:153128302C>A	ENST00000370060.1	-	29	3779	c.3590G>T	c.(3589-3591)gGg>gTg	p.G1197V	L1CAM_ENST00000543994.1_Missense_Mutation_p.G1199V|L1CAM_ENST00000538883.1_Missense_Mutation_p.G1195V|L1CAM_ENST00000370055.1_Missense_Mutation_p.G1188V|L1CAM_ENST00000361981.3_Missense_Mutation_p.G1188V|L1CAM_ENST00000361699.4_Missense_Mutation_p.G1193V|L1CAM_ENST00000370057.3_Missense_Mutation_p.G1197V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1197					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|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)					CTTGATGTCCCCGTTGAGCGA	0.607000													7	40					0.0293803	0.0317349	1	1	0
REG1B	5968	broad.mit.edu	37	2	79313983	79313983	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:79313983G>T	ENST00000305089.3	-	3	218	c.138C>A	c.(136-138)taC>taA	p.Y46*		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	46	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						AGTAGTAGCAGTAGGAGCGAT	0.517000													37	107					3.61848e-18	6.12966e-18	1	1	0
ABCA12	26154	broad.mit.edu	37	2	215851332	215851332	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:215851332A>C	ENST00000272895.7	-	28	4316	c.4097T>G	c.(4096-4098)cTg>cGg	p.L1366R	ABCA12_ENST00000389661.4_Missense_Mutation_p.L1048R	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1366	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATAAAAGTTCAGATTGAGGTT	0.428000													7	54					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209965758	209965758	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:209965758G>C	ENST00000367021.3	-	6	695	c.523C>G	c.(523-525)Cca>Gca	p.P175A	IRF6_ENST00000542854.1_Missense_Mutation_p.P80A	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	175					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ACACTGGCTGGCGCCATGGGA	0.547000										HNSCC(57;0.16)			3	40					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530209	80530209	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:80530209C>A	ENST00000295057.3	-	2	1392	c.736G>T	c.(736-738)Gcc>Tcc	p.A246S	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.A246S|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	246						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						ACCACAATGGCCACCTTGTTC	0.587000										HNSCC(69;0.2)			16	80					6.49762e-13	1.00212e-12	1	1	0
STAB2	55576	broad.mit.edu	37	12	104089428	104089428	+	Splice_Site	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr12:104089428C>T	ENST00000388887.2	+	32	3678		c.e32+2			NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2						angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TACATCATTGCAAGTACCACA	0.512000													4	47					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359055	64359055	+	Silent	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:64359055C>T	ENST00000377574.1	+	1	774	c.27C>T	c.(25-27)ctC>ctT	p.L9L	SLC22A12_ENST00000336464.7_Silent_p.L9L|SLC22A12_ENST00000473690.1_Intron|SLC22A12_ENST00000377572.1_Silent_p.L9L|SLC22A12_ENST00000377567.2_Silent_p.L9L	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	9					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						TCCTGGACCTCGTGGGTGGCC	0.597000													12	75					0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129748203	129748203	+	Splice_Site	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:129748203C>A	ENST00000446488.3	-	14	1615		c.e14+1		NFRKB_ENST00000524794.1_Splice_Site|NFRKB_ENST00000304521.5_Splice_Site|NFRKB_ENST00000524746.1_Splice_Site	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein						DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		ATTGTACTCACACCCGAGGGA	0.438000													10	59					0.0242445	0.026279	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66242724	66242724	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr4:66242724G>T	ENST00000273854.3	-	9	2448	c.1848C>A	c.(1846-1848)agC>agA	p.S616R	EPHA5_ENST00000354839.4_Intron|EPHA5_ENST00000432638.2_Missense_Mutation_p.S453R|EPHA5_ENST00000511294.1_Missense_Mutation_p.S617R	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	616				S -> I (in Ref. 1; CAA64700).	cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACCATATTAGGCTTGGATGGG	0.468000										TSP Lung(17;0.13)			3	22					0.00024832	0.000293814	1	1	0
ZIC1	7545	broad.mit.edu	37	3	147128206	147128206	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr3:147128206C>T	ENST00000282928.4	+	1	1036	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	103					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CTTTCTGTTCCGCAACCGGGG	0.697000													4	28					0	0	1	0	0
IGLL5	100423062	broad.mit.edu	37	22	23237863	23237863	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr22:23237863G>T	ENST00000532223.1	+	3	911	c.637G>T	c.(637-639)Gaa>Taa	p.E213*	IGLL5_ENST00000526893.1_Nonsense_Mutation_p.E212*|IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	212	C region (By similarity to lambda light- chain).					extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GGCCCCTACAGAATGTTCATA	0.607000													8	49					5.4927e-09	7.84672e-09	1	1	0
DSG3	1830	broad.mit.edu	37	18	29039083	29039083	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr18:29039083C>A	ENST00000257189.4	+	5	543	c.460C>A	c.(460-462)Cct>Act	p.P154T		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	154	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAATGATAATCCTCCAGTATT	0.348000													4	25					0.150653	0.155158	1	1	0
CD209	30835	broad.mit.edu	37	19	7810766	7810766	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr19:7810766C>T	ENST00000315599.7	-	4	408	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	CD209_ENST00000593660.1_Missense_Mutation_p.R105Q|CD209_ENST00000601256.1_Missense_Mutation_p.R105Q|CD209_ENST00000394173.4_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000301357.8_Missense_Mutation_p.R85Q|CD209_ENST00000315591.8_Missense_Mutation_p.R105Q|CD209_ENST00000204801.8_Missense_Mutation_p.R85Q|CD209_ENST00000601951.1_Missense_Mutation_p.R105Q|CD209_ENST00000593821.1_Missense_Mutation_p.R85Q|CD209_ENST00000354397.6_Missense_Mutation_p.R129Q|CD209_ENST00000602261.1_Missense_Mutation_p.R129Q	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCCTTCAGCCGGGTCAGCTC	0.567000													5	141					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26589834	26589834	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr10:26589834C>A	ENST00000376261.3	+	16	2205	c.1702C>A	c.(1702-1704)Cac>Aac	p.H568N	GAD2_ENST00000259271.3_Missense_Mutation_p.H568N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	568					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	AGCGGCAACTCACCAAGACAT	0.448000													21	76					1.55469e-16	2.56359e-16	1	1	0
NPY2R	4887	broad.mit.edu	37	4	156135716	156135716	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr4:156135716G>T	ENST00000329476.3	+	2	1114	c.625G>T	c.(625-627)Ggc>Tgc	p.G209C	NPY2R_ENST00000506608.1_Missense_Mutation_p.G209C	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	209				G -> A (in Ref. 4; AAB07760).	cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				AAAGTGGCCTGGCGAGGAGAA	0.488000													25	110					2.08457e-15	3.36571e-15	1	1	0
RGS8	85397	broad.mit.edu	37	1	182636035	182636035	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:182636035G>C	ENST00000483095.2	-	4	357	c.100C>G	c.(100-102)Ctt>Gtt	p.L34V	RGS8_ENST00000367557.4_Missense_Mutation_p.L34V|RGS8_ENST00000367556.1_Missense_Mutation_p.L34V|RGS8_ENST00000258302.4_Missense_Mutation_p.L52V|RGS8_ENST00000491420.2_5'UTR			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	34					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						TTGTCTGGAAGAATAGCTGTG	0.502000													6	105					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539542	133539542	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:133539542T>A	ENST00000409261.1	-	14	5215	c.4842A>T	c.(4840-4842)aaA>aaT	p.K1614N	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.K1614N|NCKAP5_ENST00000473859.1_5'UTR	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1614							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGAAGGTGTCTTTCGTTGAAC	0.428000													23	59					0	0	1	0	0
DLX6	1750	broad.mit.edu	37	7	96639143	96639143	+	Silent	SNP	T	T	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr7:96639143T>C	ENST00000518156.2	+	3	1096	c.666T>C	c.(664-666)ttT>ttC	p.F222F	DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_Silent_p.F194F|DLX6_ENST00000555308.1_Silent_p.F94F|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000452769.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	104					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GCTCTAAGTTTAAGAAACTGC	0.542000													8	43					0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37117917	37117917	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr19:37117917C>A	ENST00000435416.1	+	3	2610	c.1115C>A	c.(1114-1116)aCa>aAa	p.T372K	ZNF382_ENST00000423582.1_Missense_Mutation_p.T324K|ZNF382_ENST00000292928.2_Missense_Mutation_p.T373K|ZNF382_ENST00000439428.1_Missense_Mutation_p.T372K			Q96SR6	ZN382_HUMAN	zinc finger protein 382	373	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CATCACAAAACACATACGGGG	0.458000													9	61					0.000673444	0.000767528	1	1	0
PRRC2B	84726	broad.mit.edu	37	9	134308112	134308112	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr9:134308112C>G	ENST00000357304.4	+	2	279	c.224C>G	c.(223-225)cCc>cGc	p.P75R	PRRC2B_ENST00000458550.1_Missense_Mutation_p.P75R|PRRC2B_ENST00000405995.1_Missense_Mutation_p.P75R	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	75							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GGAAACGACCCCAACATCGTG	0.557000													4	56					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579672	55579672	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:55579672C>A	ENST00000333973.2	+	1	819	c.730C>A	c.(730-732)Cac>Aac	p.H244N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTGTGCTTCCCACCTCACAGC	0.517000													11	76					0.00185496	0.00209868	1	1	0
SSMEM1	136263	broad.mit.edu	37	7	129855958	129855958	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr7:129855958G>T	ENST00000297819.3	+	3	434	c.383G>T	c.(382-384)cGa>cTa	p.R128L		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1																		GAACAAAGACGAGCCAGGCGC	0.483000													6	31					5.18039e-06	6.66357e-06	1	1	0
NRBP1	29959	broad.mit.edu	37	2	27659970	27659970	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:27659970G>T	ENST00000233557.3	+	10	1634	c.802G>T	c.(802-804)Gag>Tag	p.E268*	NRBP1_ENST00000379863.3_Nonsense_Mutation_p.E276*|NRBP1_ENST00000379852.3_Nonsense_Mutation_p.E268*			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	268	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GTGTGCACTggaggtgagggg	0.522000													7	31					0.0477658	0.0507102	1	1	0
ARSH	347527	broad.mit.edu	37	X	2947329	2947329	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:2947329G>T	ENST00000381130.2	+	8	1241	c.1241G>T	c.(1240-1242)aGg>aTg	p.R414M		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	414						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTGGAAGGAAGGGCGTCCCAC	0.547000													15	96					1.02788e-11	1.54682e-11	1	1	0
ZNF19	7567	broad.mit.edu	37	16	71509851	71509851	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr16:71509851C>A	ENST00000288177.5	-	6	854	c.599G>T	c.(598-600)gGt>gTt	p.G200V	ZNF19_ENST00000565100.2_Missense_Mutation_p.G130V|ZNF19_ENST00000565637.1_Missense_Mutation_p.G158V|ZNF19_ENST00000564230.1_Missense_Mutation_p.G200V|ZNF19_ENST00000567225.1_Intron|AC010547.9_ENST00000561908.1_Intron	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	200						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		CGAAGAATTACCATTAAAGGC	0.443000													5	30					1.6384e-10	2.40713e-10	1	1	0
GLDC	2731	broad.mit.edu	37	9	6587243	6587243	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr9:6587243A>C	ENST00000321612.6	-	15	1898	c.1748T>G	c.(1747-1749)gTg>gGg	p.V583G		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	583					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ATCCAGAGGCACAAAGGGGTG	0.383000													11	53					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19698813	19698813	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr21:19698813G>T	ENST00000284885.3	-	16	1890	c.1857C>A	c.(1855-1857)aaC>aaA	p.N619K		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	619	CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CCAACACATCGTTAGTGATGA	0.448000													31	81					1.22384e-17	2.05075e-17	1	1	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643028	1643028	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:1643028C>A	ENST00000399682.1	-	1	340	c.296G>T	c.(295-297)gGg>gTg	p.G99V		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	99	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCACAGCCCCCCTTGGAACC	0.682000													10	79					2.48551e-13	3.9112e-13	1	1	0
PRB2	653247	broad.mit.edu	37	12	11546771	11546771	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr12:11546771G>C	ENST00000389362.4	-	3	276	c.241C>G	c.(241-243)Cca>Gca	p.P81A	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2									p.P81A(1)|p.P60A(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGTGGGGGTGGTCCTTGTGGC	0.612000													7	373					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70065291	70065291	+	Silent	SNP	G	G	A	rs113525790	by1000genomes	TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr12:70065291G>A	ENST00000330891.5	-	9	1243	c.1017C>T	c.(1015-1017)gaC>gaT	p.D339D	BEST3_ENST00000331471.4_Silent_p.D339D|BEST3_ENST00000553096.1_Silent_p.D233D|BEST3_ENST00000476098.1_Silent_p.D126D|BEST3_ENST00000488961.1_Silent_p.D126D	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	339						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CAGCAGAATCGTCCCAGTAAA	0.433000													5	49					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24407901	24407901	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:24407901C>A	ENST00000330966.7	-	19	2491	c.2329G>T	c.(2329-2331)Gct>Tct	p.A777S	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.A776S|MYOM3_ENST00000374434.3_Missense_Mutation_p.A776S|RP11-293P20.4_ENST00000429191.1_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	776	Fibronectin type-III 4.									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)		CAGTTGGCAGCCCGGGCACGG	0.582000													3	35					0.115264	0.119906	1	1	0
ATXN3L	92552	broad.mit.edu	37	X	13337344	13337344	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:13337344C>A	ENST00000380622.2	-	1	1174	c.710G>T	c.(709-711)cGc>cTc	p.R237L	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	237					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	p.R237H(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GGTTTCTTGGCGGCTTAGTTC	0.423000													37	208					1.59361e-14	2.54649e-14	1	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33566850	33566850	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:33566850C>T	ENST00000321505.4	+	2	2600	c.2420C>T	c.(2419-2421)gCt>gTt	p.A807V	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A813V|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A813V					KIAA1549-like																		GCTGCATCGGCTGCAGTGGTC	0.547000													3	27					0	0	1	0	0
MTMR10	54893	broad.mit.edu	37	15	31233850	31233850	+	Silent	SNP	G	G	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr15:31233850G>A	ENST00000435680.1	-	16	2254	c.2157C>T	c.(2155-2157)aaC>aaT	p.N719N	MTMR10_ENST00000314404.8_Intron|FAN1_ENST00000362065.4_3'UTR|MTMR10_ENST00000425768.1_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	719							phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		GGCCGCTGGCGTTGAAGTACA	0.587000													3	6					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	rs71828885		TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577000													3	45					0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26888618	26888618	+	Silent	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr17:26888618C>T	ENST00000308360.7	-	6	873	c.498G>A	c.(496-498)agG>agA	p.R166R	PIGS_ENST00000543734.1_Silent_p.R105R|PIGS_ENST00000395346.2_Silent_p.R158R|PIGS_ENST00000465444.1_5'UTR	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	166					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)					CCACTGCTGTCCTCTTGGGCC	0.562000													3	22					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73078683	73078683	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:73078683C>T	ENST00000263674.3	+	21	6400	c.6050C>T	c.(6049-6051)cCc>cTc	p.P2017L		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	2017					actin cytoskeleton organization|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			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CACCGAGGCCCCGCCCCTGCC	0.647000													15	72					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54814955	54814955	+	Silent	SNP	A	A	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:54814955A>G	ENST00000218436.6	-	5	773	c.744T>C	c.(742-744)gtT>gtC	p.V248V	ITIH6_ENST00000498398.1_5'UTR	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	248					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										CATCGTACTGAACCAGGAAGT	0.582000													9	50					0	0	1	0	0
BGN	633	broad.mit.edu	37	X	152772061	152772061	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:152772061C>T	ENST00000331595.4	+	5	826	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	BGN_ENST00000370204.1_Missense_Mutation_p.R153C|BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	214						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAACTACCTGCGCATCTCAGA	0.602000													7	62					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37735585	37735585	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr9:37735585G>A	ENST00000539465.1	+	13	1848	c.1255G>A	c.(1255-1257)Gga>Aga	p.G419R	FRMPD1_ENST00000536622.1_Missense_Mutation_p.G241R|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.G288R|FRMPD1_ENST00000377765.3_Missense_Mutation_p.G419R			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	419	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCTTCTAGTTGGAGCCAAGTA	0.443000													13	64					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			9	16					4.3838e-07	5.78289e-07	1	1	0
PRSS3P2	154754	broad.mit.edu	37	7	142480037	142480037	+	RNA	SNP	T	T	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr7:142480037T>A	ENST00000603901.1	+	0	169					NR_001296.3																						CAGCGAACAGTGGGTGGTGTC	0.587000													17	78					0	0	1	0	0
HOXD13	3239	broad.mit.edu	37	2	176957919	176957919	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:176957919G>C	ENST00000392539.3	+	1	301	c.301G>C	c.(301-303)Gct>Cct	p.A101P		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	101					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		GCGCCCGGAGGCTCCCCCAGC	0.726000			T	NUP98	AML*								9	17					0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153551630	153551630	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:153551630C>A	ENST00000369915.3	+	9	1453	c.1264C>A	c.(1264-1266)Cca>Aca	p.P422T	TKTL1_ENST00000217905.7_Missense_Mutation_p.P162T|TKTL1_ENST00000369912.2_Missense_Mutation_p.P366T	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	422					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GATCTTCTACCCAACTGATGC	0.517000													21	81					3.28513e-13	5.11753e-13	1	1	0
RP11-146E13.4	0	broad.mit.edu	37	14	19856989	19856989	+	RNA	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr14:19856989C>A	ENST00000548109.1	+	0	72																											TCACAGTGCTCTAAAAGCTCT	0.398000													5	37					2.7689e-08	3.79804e-08	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	131887528	131887528	+	Silent	SNP	G	G	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr7:131887528G>A	ENST00000359827.3	-	12	3425	c.2463C>T	c.(2461-2463)ttC>ttT	p.F821F	PLXNA4_ENST00000321063.4_Silent_p.F821F			Q9HCM2	PLXA4_HUMAN	plexin A4	821	PSI 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGCCACATGCGAAGTCTGGGT	0.637000													6	17					0	0	1	0	0
CALCA	796	broad.mit.edu	37	11	14992652	14992652	+	Splice_Site	SNP	C	C	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:14992652C>G	ENST00000361010.3	-	2	161		c.e2+1		CALCB_ENST00000523376.1_Intron|CALCA_ENST00000331587.4_Splice_Site|CALCA_ENST00000486207.1_Splice_Site|CALCA_ENST00000359642.3_Splice_Site|CALCA_ENST00000396372.2_Splice_Site	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha						activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	GGCTGTCTTACCTGAATGGTG	0.532000													7	58					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37597733	37597733	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr20:37597733G>A	ENST00000252011.3	+	2	83	c.50G>A	c.(49-51)gGg>gAg	p.G17E	DHX35_ENST00000373323.4_Missense_Mutation_p.G17E|DHX35_ENST00000373325.2_Missense_Mutation_p.G17E	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	17						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GGTACAGAGGGGCCAGGTGTA	0.403000													4	25					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182363400	182363400	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:182363400C>A	ENST00000397033.2	+	15	2021	c.1591C>A	c.(1591-1593)Cca>Aca	p.P531T		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	531					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGAGTCTCCACCAAGATTCTA	0.348000													12	39					0.0242445	0.026279	1	1	0
NTRK3	4916	broad.mit.edu	37	15	88678344	88678344	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr15:88678344C>G	ENST00000394480.1	-	10	1513	c.1192G>C	c.(1192-1194)Gag>Cag	p.E398Q	NTRK3_ENST00000357724.2_Missense_Mutation_p.E398Q|NTRK3_ENST00000317501.3_Missense_Mutation_p.E398Q|NTRK3_ENST00000558676.1_Missense_Mutation_p.E398Q|NTRK3_ENST00000540489.2_Missense_Mutation_p.E398Q|NTRK3_ENST00000557856.1_Missense_Mutation_p.E398Q|NTRK3_ENST00000542733.2_Missense_Mutation_p.E300Q|NTRK3_ENST00000355254.2_Missense_Mutation_p.E398Q|NTRK3_ENST00000360948.2_Missense_Mutation_p.E398Q	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	398					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGAAAGGGCTCCTTGAGGAAG	0.532000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			15	78					0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106729479	106729479	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr12:106729479T>G	ENST00000299045.3	+	7	1009	c.835T>G	c.(835-837)Tct>Gct	p.S279A		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	279										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						ATTTTCTCTTTCTGAGAGTGC	0.398000													4	35					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2985479	2985479	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr7:2985479G>T	ENST00000396946.4	-	4	735	c.332C>A	c.(331-333)cCc>cAc	p.P111H	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	111					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCTCCGAGTGGGCTCTTTCCC	0.493000			Mis		DLBCL								27	169					3.1745e-13	4.97017e-13	1	1	0
CYP8B1	1582	broad.mit.edu	37	3	42917206	42917206	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr3:42917206G>T	ENST00000316161.4	-	1	427	c.103C>A	c.(103-105)Ctg>Atg	p.L35M	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.L35M|ACKR2_ENST00000471537.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	35					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CCCTTGTCCAGAGGGGGCTCC	0.582000													8	38					1.12685e-05	1.43165e-05	1	1	0
CHRNA1	1134	broad.mit.edu	37	2	175614782	175614782	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:175614782C>G	ENST00000348749.5	-	7	971	c.894G>C	c.(892-894)atG>atC	p.M298I	CHRNA1_ENST00000409542.1_Missense_Mutation_p.M216I|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000261007.5_Missense_Mutation_p.M323I|CHRNA1_ENST00000409219.1_Missense_Mutation_p.M298I	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	323					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						TGGTGAACAGCATGTATTTTC	0.517000													14	94					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105205183	105205183	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr10:105205183G>T	ENST00000369797.3	+	36	5587	c.5493G>T	c.(5491-5493)atG>atT	p.M1831I		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1831					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)		CCAAGAGAATGAAGTTCTTCT	0.542000													15	78					2.35188e-11	3.52214e-11	1	1	0
PRDM7	11105	broad.mit.edu	37	16	90126912	90126912	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr16:90126912G>T	ENST00000449207.2	-	9	1089	c.1070C>A	c.(1069-1071)tCt>tAt	p.S357Y	PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	357	SET.			S -> Y (in Ref. 2; AAF78084).		chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCAGACCAGACCAG	0.532000													5	69					0.000602214	0.000694002	1	1	0
C1orf109	54955	broad.mit.edu	37	1	38155304	38155304	+	Silent	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:38155304G>T	ENST00000358011.4	-	2	438	c.249C>A	c.(247-249)atC>atA	p.I83I	C1orf109_ENST00000494120.1_Intron	NM_017850.1	NP_060320.1	Q9NX04	CA109_HUMAN	chromosome 1 open reading frame 109	83										lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				TGTCCAGGACGATGTCACCAG	0.532000													4	79					0.00116845	0.00132681	1	1	0
FBXL4	26235	broad.mit.edu	37	6	99374724	99374724	+	Silent	SNP	G	G	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr6:99374724G>A	ENST00000369244.2	-	4	569	c.141C>T	c.(139-141)ctC>ctT	p.L47L	FBXL4_ENST00000229971.1_Silent_p.L47L			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	47					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		CCTCTGCATTGAGAGGGGAAG	0.438000													27	99					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76938069	76938069	+	Silent	SNP	G	G	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:76938069G>C	ENST00000373344.5	-	9	2893	c.2679C>G	c.(2677-2679)ggC>ggG	p.G893G	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.G855G	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	893					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TATCAACTGTGCCTTCTGCTG	0.423000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						38	173					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241685265	241685265	+	Silent	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:241685265C>A	ENST00000498729.2	-	31	3510	c.3264G>T	c.(3262-3264)ctG>ctT	p.L1088L	KIF1A_ENST00000320389.7_Silent_p.L987L	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	987					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGGCAGCATCCAGGGGCCCAT	0.622000													5	11					1.6384e-10	2.40713e-10	1	1	0
ATP2B2	491	broad.mit.edu	37	3	10381930	10381930	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr3:10381930C>A	ENST00000397077.1	-	20	3673	c.3098G>T	c.(3097-3099)gGc>gTc	p.G1033V	ATP2B2_ENST00000383800.4_Missense_Mutation_p.G1033V|ATP2B2_ENST00000360273.2_Missense_Mutation_p.G1078V|ATP2B2_ENST00000352432.4_Missense_Mutation_p.G1078V|ATP2B2_ENST00000343816.4_Missense_Mutation_p.G1064V			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1078					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACTTACCTGGCCCCAAACGAG	0.572000													6	42					1.76689e-08	2.43439e-08	1	1	0
ALG1L	200810	broad.mit.edu	37	3	125652457	125652457	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr3:125652457C>T	ENST00000340333.3	-	2	224	c.61G>A	c.(61-63)Gag>Aag	p.E21K		NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	21							transferase activity, transferring glycosyl groups			large_intestine(2)|lung(2)	4						GCTGGCCACTCGCGGAGATGC	0.622000													4	25					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79951433	79951433	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:79951433T>A	ENST00000373275.4	-	27	3341	c.3125A>T	c.(3124-3126)gAa>gTa	p.E1042V	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1042										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTCTTTGGCTTCATTATAAAA	0.303000													8	27					0	0	1	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22865579	22865579	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr8:22865579G>A	ENST00000251822.6	+	6	2112	c.1575G>A	c.(1573-1575)atG>atA	p.M525I	RHOBTB2_ENST00000522948.1_Missense_Mutation_p.M532I|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.M547I	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	525	BTB 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GTGACTGGATGGCTGCCATGT	0.557000													8	53					0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103589	52103589	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr10:52103589C>A	ENST00000361781.2	-	7	1245	c.286G>T	c.(286-288)Ggc>Tgc	p.G96C	SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.G96C	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	102					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CTGAAGCTGCCGTCGGGGGTG	0.512000													8	56					0.00448238	0.00498042	1	1	0
CD69	969	broad.mit.edu	37	12	9907713	9907713	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr12:9907713T>A	ENST00000228434.3	-	3	412	c.332A>T	c.(331-333)aAt>aTt	p.N111I	CD69_ENST00000536709.1_Missense_Mutation_p.N111I	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	111	C-type lectin.					integral to plasma membrane	sugar binding|transmembrane receptor activity			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						AGAACAAGCATTTTGGGCTGA	0.383000													30	53					0	0	1	0	0
SPOCK1	6695	broad.mit.edu	37	5	136324183	136324183	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr5:136324183T>A	ENST00000394945.1	-	8	1025	c.856A>T	c.(856-858)Aac>Tac	p.N286Y	SPOCK1_ENST00000282223.7_Missense_Mutation_p.N286Y|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	286					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCACACGAGTTGAAAAGAGGC	0.498000													6	92					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168233578	168233578	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr5:168233578G>T	ENST00000519560.1	-	9	1227	c.808C>A	c.(808-810)Ccc>Acc	p.P270T	SLIT3_ENST00000404867.3_Missense_Mutation_p.P270T|SLIT3_ENST00000332966.8_Missense_Mutation_p.P270T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	270					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGATGGGGGCTCCGAGTGG	0.572000													6	75					0.000157383	0.00018693	1	1	0
WIF1	11197	broad.mit.edu	37	12	65445163	65445163	+	Missense_Mutation	SNP	C	C	G	rs138241385		TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr12:65445163C>G	ENST00000286574.4	-	10	1480	c.1106G>C	c.(1105-1107)cGg>cCg	p.R369P		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	369					multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TGGATCCCGCCGCTCCTCGGC	0.498000			T	HMGA2	pleomorphic salivary gland adenoma								12	34					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20929593	20929593	+	Silent	SNP	C	C	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr9:20929593C>G	ENST00000380249.1	+	29	3679	c.3315C>G	c.(3313-3315)ctC>ctG	p.L1105L	FOCAD_ENST00000338382.6_Silent_p.L1105L|FOCAD_ENST00000605086.1_Silent_p.L541L	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1105						integral to membrane	binding										AAGAGAAACTCAGGTACAGTT	0.403000													5	51					0	0	1	0	0
TMEM31	203562	broad.mit.edu	37	X	102968776	102968776	+	Silent	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:102968776C>A	ENST00000319560.6	+	3	548	c.357C>A	c.(355-357)atC>atA	p.I119I	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	119						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TGGAAAAGATCGGACTGCCCA	0.418000													14	80					4.63292e-17	7.68025e-17	1	1	0
OR6N2	81442	broad.mit.edu	37	1	158747012	158747012	+	Silent	SNP	G	G	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:158747012G>A	ENST00000339258.1	-	1	413	c.414C>T	c.(412-414)acC>acT	p.T138T		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CACAGAGTGTGGTGGTCATAA	0.512000													21	44					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79951432	79951432	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:79951432T>A	ENST00000373275.4	-	27	3342	c.3126A>T	c.(3124-3126)gaA>gaT	p.E1042D	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1042										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTTCTTTGGCTTCATTATAAA	0.303000													8	26					0	0	1	0	0
PLSCR4	57088	broad.mit.edu	37	3	145938688	145938688	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr3:145938688T>A	ENST00000354952.2	-	3	272	c.32A>T	c.(31-33)cAg>cTg	p.Q11L	PLSCR4_ENST00000383083.2_Missense_Mutation_p.Q11L|PLSCR4_ENST00000433593.2_5'UTR|PLSCR4_ENST00000493382.1_Missense_Mutation_p.Q11L|PLSCR4_ENST00000446574.2_Missense_Mutation_p.Q11L	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	11					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						ACCTGCAGGCTGTTCAGGGGC	0.403000													6	20					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32356828	32356828	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr13:32356828T>G	ENST00000298386.2	+	11	944	c.873T>G	c.(871-873)aaT>aaG	p.N291K	RXFP2_ENST00000380314.1_Intron	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	291						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TGCCTAGAAATCAAATTGGTT	0.408000													6	39					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70470504	70470504	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:70470504G>T	ENST00000373998.1	-	5	1548	c.851C>A	c.(850-852)cCc>cAc	p.P284H	ZMYM3_ENST00000373982.1_Missense_Mutation_p.P286H|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373981.1_Missense_Mutation_p.P284H|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P286H|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000353904.2_Missense_Mutation_p.P284H|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P286H|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P284H	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	284					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGAGCGCCGGGGCCGGAATGG	0.567000													3	18					0.115264	0.119906	1	1	0
PDHA1	5160	broad.mit.edu	37	X	19377734	19377734	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:19377734G>T	ENST00000379806.5	+	12	1395	c.1250G>T	c.(1249-1251)gGt>gTt	p.G417V	PDHA1_ENST00000422285.2_Missense_Mutation_p.G379V|PDHA1_ENST00000478795.1_3'UTR|PDHA1_ENST00000540249.1_Missense_Mutation_p.G348V|PDHA1_ENST00000545074.1_Missense_Mutation_p.G386V|PDHA1_ENST00000379804.1_Missense_Mutation_p.G98V	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	379					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	GAAGTTCGTGGTGCCAATCAG	0.512000													10	61					1.5842e-08	2.23228e-08	1	1	0
CARD16	114769	broad.mit.edu	37	11	104915304	104915304	+	Nonsense_Mutation	SNP	A	A	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:104915304A>C	ENST00000375706.2	-	2	106	c.89T>G	c.(88-90)tTa>tGa	p.L30*	CARD16_ENST00000525374.1_Nonsense_Mutation_p.L30*|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Nonsense_Mutation_p.L30*	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16											endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						CCTTGTCTGTAATAATTCATC	0.423000													50	178					0	0	1	0	0
FAM127C	441518	broad.mit.edu	37	X	134156229	134156229	+	Silent	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:134156229C>T	ENST00000391440.1	-	1	330	c.261G>A	c.(259-261)gaG>gaA	p.E87E		NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	87										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					GGAGGGGGCTCTCCTTCTTGA	0.627000													11	40					0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24738889	24738889	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr14:24738889C>A	ENST00000399409.3	-	5	922	c.439G>T	c.(439-441)Gac>Tac	p.D147Y	RABGGTA_ENST00000560777.1_5'UTR|RABGGTA_ENST00000559586.1_5'UTR|RABGGTA_ENST00000216840.6_Missense_Mutation_p.D147Y	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	147					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		CGCCGATAGTCCCAGCAGTGA	0.587000													9	26					0.000442599	0.000515811	1	1	0
GCC1	79571	broad.mit.edu	37	7	127222755	127222755	+	Silent	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr7:127222755C>T	ENST00000321407.2	-	2	2065	c.1641G>A	c.(1639-1641)caG>caA	p.Q547Q		NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	547						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CATCAGCCTCCTGCTGGTGTT	0.622000													9	54					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106401672	106401672	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr10:106401672A>C	ENST00000369701.3	+	1	814	c.587A>C	c.(586-588)cAc>cCc	p.H196P		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	196						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GACTCGGCCCACAACCAAGCC	0.706000													3	20					0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42488428	42488428	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:42488428C>T	ENST00000318522.5	+	4	768	c.506C>T	c.(505-507)aCc>aTc	p.T169I	EML4_ENST00000402711.2_Intron|EML4_ENST00000401738.3_Missense_Mutation_p.T169I	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	169					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCTACTCCCACCAAAAGGTTT	0.433000			T	ALK	NSCLC								12	108					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248765	20248765	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr14:20248765G>T	ENST00000315957.4	+	1	365	c.284G>T	c.(283-285)gGt>gTt	p.G95V		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTTCCTTTGGTGGATGCATT	0.463000													26	128					1.77063e-15	2.8738e-15	1	1	0
ADAD1	132612	broad.mit.edu	37	4	123329128	123329128	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr4:123329128G>T	ENST00000296513.2	+	8	975	c.790G>T	c.(790-792)Gat>Tat	p.D264Y	ADAD1_ENST00000388725.2_Missense_Mutation_p.D246Y|ADAD1_ENST00000388724.2_Missense_Mutation_p.D264Y	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	264	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CATTAAGCCAGATGGAAGAGT	0.378000													12	65					9.31168e-06	1.19282e-05	1	1	0
ZNF521	25925	broad.mit.edu	37	18	22804575	22804575	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr18:22804575C>A	ENST00000361524.3	-	4	3455	c.3307G>T	c.(3307-3309)Gcc>Tcc	p.A1103S	ZNF521_ENST00000538137.2_Missense_Mutation_p.A1103S|ZNF521_ENST00000584787.1_Missense_Mutation_p.A883S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1103					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCTGGGCTGGCGCTCTTACTG	0.537000			T	PAX5	ALL								17	61					2.94398e-08	4.02042e-08	1	1	0
FAM126B	285172	broad.mit.edu	37	2	201857028	201857028	+	Silent	SNP	T	T	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:201857028T>A	ENST00000418596.2	-	10	994	c.807A>T	c.(805-807)ctA>ctT	p.L269L	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	269						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AAAAAAGCTCTAGCTGGGCTC	0.338000													15	66					0	0	1	0	0
PRPF4B	8899	broad.mit.edu	37	6	4037669	4037669	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr6:4037669G>C	ENST00000337659.6	+	3	1377	c.1277G>C	c.(1276-1278)aGa>aCa	p.R426T	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R412T	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	426	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AGACGTGAAAGATCAAAAGAT	0.408000													4	48					0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380698	56380698	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr11:56380698T>A	ENST00000526538.1	-	1	280	c.281A>T	c.(280-282)tAc>tTc	p.Y94F		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GCATCCAGCGTAGGAGATGGT	0.448000													12	56					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063809	48063809	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr15:48063809G>A	ENST00000316364.5	+	19	3488	c.3049G>A	c.(3049-3051)Gtg>Atg	p.V1017M	SEMA6D_ENST00000354744.4_Missense_Mutation_p.V961M|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V955M|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V974M|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V955M|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V955M|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V942M|SEMA6D_ENST00000389433.2_Missense_Mutation_p.V998M|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V1017M	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	1017					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GGGAACACCAGTGAGTGTTCA	0.517000													24	100					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54069223	54069223	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chrX:54069223G>T	ENST00000357988.5	-	2	405	c.47C>A	c.(46-48)cCt>cAt	p.P16H	PHF8_ENST00000322659.8_5'UTR|PHF8_ENST00000338946.6_5'UTR|PHF8_ENST00000338154.6_5'UTR	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	16					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						AGGGGCGGGAGGCGGCAGCAC	0.642000											OREG0019805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	3					0.0784	0.0826667	1	1	0
GABRG3	2567	broad.mit.edu	37	15	27222209	27222209	+	Silent	SNP	G	G	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr15:27222209G>A	ENST00000333743.6	+	2	368	c.114G>A	c.(112-114)ttG>ttA	p.L38L	GABRG3_ENST00000555083.1_Silent_p.L38L	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	38					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		AGTGGGTCTTGGCTCCAAAAT	0.418000													9	28					0	0	1	0	0
TRIM8	81603	broad.mit.edu	37	10	104416839	104416839	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr10:104416839G>T	ENST00000302424.6	+	6	1506	c.1384G>T	c.(1384-1386)Ggc>Tgc	p.G462C		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	462						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCAGTATGGCGGCCGCAAGAT	0.657000													9	53					0.000673444	0.000767528	1	1	0
CD1E	913	broad.mit.edu	37	1	158324263	158324263	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr1:158324263A>T	ENST00000368160.3	+	2	155	c.155A>T	c.(154-156)cAc>cTc	p.H52L	CD1E_ENST00000464822.1_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.H50L|CD1E_ENST00000368156.1_Missense_Mutation_p.H52L|CD1E_ENST00000368167.3_Missense_Mutation_p.H52L|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.H52L|CD1E_ENST00000368155.3_Missense_Mutation_p.H52L|CD1E_ENST00000368165.3_Missense_Mutation_p.H52L|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.H52L|CD1E_ENST00000368166.3_Intron	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	52					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)					AGCTGGGCACACAGTGAGGGC	0.572000													30	49					0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110881617	110881625	+	In_Frame_Del	DEL	GGACTTCAG	GGACTTCAG	-			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr2:110881617_110881625delGGACTTCAG	ENST00000316534.4	-	20	2018_2026	c.1945_1953delCTGAAGTCC	c.(1945-1953)del	p.LKS649del	NPHP1_ENST00000445609.2_In_Frame_Del_p.LKS593del|NPHP1_ENST00000417665.1_In_Frame_Del_p.LKS627del|NPHP1_ENST00000393272.3_In_Frame_Del_p.LKS648del|NPHP1_ENST00000355301.4_In_Frame_Del_p.LKS530del			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	648					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						GGAGAAACGTGGACTTCAGGAACTCTTTG	0.459													14	64	---	---	---	---					
CNTN6	27255	broad.mit.edu	37	3	1339578	1339579	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr3:1339578_1339579insT	ENST00000446702.2	+	7	1291_1292	c.664_665insT	c.(664-666)gggfs	p.G222fs	CNTN6_ENST00000539053.1_Frame_Shift_Ins_p.G150fs|CNTN6_ENST00000350110.2_Frame_Shift_Ins_p.G222fs			Q9UQ52	CNTN6_HUMAN	contactin 6	222					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AACAGGTGTGATGGGGGAATAT	0.351													19	69	---	---	---	---					
MKRN2	23609	broad.mit.edu	37	3	12623307	12623308	+	Splice_Site	INS	-	-	A			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr3:12623307_12623308insA	ENST00000170447.7	+	7	1106_1107	c.968_splice	c.e7-1	p.GK323_splice	MKRN2_ENST00000411987.1_Splice_Site_p.GK280_splice|MKRN2_ENST00000448482.1_Splice_Site_p.GK321_splice	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	323						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TGCTTTTCAGGAAAAAAGCCTG	0.520													7	48	---	---	---	---					
IGF2R	3482	broad.mit.edu	37	6	160464274	160464277	+	Frame_Shift_Del	DEL	AGGC	AGGC	-			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr6:160464274_160464277delAGGC	ENST00000356956.1	+	12	1723_1726	c.1575_1578delAGGC	c.(1573-1578)gafs	p.EG525fs		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	525					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TGCTGCAGGAAGGCAAGGCACGAG	0.505													11	110	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)del	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													2	4	---	---	---	---					
NOL4	8715	broad.mit.edu	37	18	31709851	31709851	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr18:31709851delT	ENST00000261592.5	-	2	695	c.398delA	c.(397-399)agfs	p.K133fs	NOL4_ENST00000538587.1_Frame_Shift_Del_p.K59fs|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000589544.1_Frame_Shift_Del_p.K133fs|NOL4_ENST00000269185.4_Frame_Shift_Del_p.K19fs	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	133						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						GTAAGTTCTCTTTTGTCCAGC	0.358													16	62	---	---	---	---					
FHOD3	80206	broad.mit.edu	37	18	34289064	34289064	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr18:34289064delC	ENST00000257209.4	+	15	1840	c.1718delC	c.(1717-1719)gcfs	p.A573fs	FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.A535fs|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.A556fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.A748fs	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	556					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCAGCAAGTGCCGGGGATCCT	0.537													48	213	---	---	---	---					
ZNF761	388561	broad.mit.edu	37	19	53959847	53959847	+	RNA	DEL	G	G	-			TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr19:53959847delG	ENST00000454407.1	+	0	2539							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TAATGAGTGTGGCAAGAACTT	0.393													14	99	---	---	---	---					
RP5-963E22.4	0	broad.mit.edu	37	20	61798915	61798916	+	RNA	INS	-	-	C	rs61134431	by1000genomes	TCGA-55-7911-01A-11D-2167-08	TCGA-55-7911-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6ded5a-1646-40fa-80a8-c916cef5dd94	c3cdccd4-e903-42d8-ac96-0a11e8fb9be4	g.chr20:61798915_61798916insC	ENST00000423020.1	-	0	188																											ccccacctcagaccctcctcag	0.703													2	4	---	---	---	---					
