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
GABRG1	2565	broad.mit.edu	37	4	46125866	46125866	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr4:46125866C>G	ENST00000295452.4	-	1	232	c.65G>C	c.(64-66)aGg>aCg	p.R22T		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	22					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R22T(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		GAAGACCAACCTCACCCCTCT	0.453000													5	38					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50244178	50244178	+	Silent	SNP	T	T	C			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr20:50244178T>C	ENST00000338821.5	-	17	2070	c.1806A>G	c.(1804-1806)gcA>gcG	p.A602A	ATP9A_ENST00000311637.5_Silent_p.A466A|ATP9A_ENST00000402822.1_Silent_p.A481A	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	602					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.A602A(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GAGACTTCTTTGCCACCACGA	0.562000													67	256					0	0	1	0	0
LRRC1	55227	broad.mit.edu	37	6	53785527	53785527	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr6:53785527G>C	ENST00000370888.1	+	13	1661	c.1384G>C	c.(1384-1386)Gag>Cag	p.E462Q	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	462						cytoplasm|membrane		p.E462Q(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CCGATTTGTGGAGGATGAGAA	0.443000													13	24					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16982064	16982064	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr10:16982064T>C	ENST00000377833.4	-	37	5580	c.5515A>G	c.(5515-5517)Agc>Ggc	p.S1839G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1839	CUB 12.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.S1839G(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCGTGCCGCTGCCAGAACCA	0.413000													116	39					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770491	31770491	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr19:31770491G>T	ENST00000240587.4	-	2	535	c.208C>A	c.(208-210)Cat>Aat	p.H70N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	70					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H70N(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCCATTTCATGGCAGGAAAAC	0.592000													8	17					0.000157383	0.000177719	1	1	0
SPPL2B	56928	broad.mit.edu	37	19	2337525	2337525	+	RNA	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr19:2337525C>A	ENST00000452401.2	+	0	350				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	p.I90I(1)					Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAACCAGATCCCGCTGGTGG	0.672000													38	9					9.85913e-13	1.436e-12	1	1	0
DLGAP2	9228	broad.mit.edu	37	8	1497432	1497432	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr8:1497432C>A	ENST00000421627.2	+	2	707	c.573C>A	c.(571-573)caC>caA	p.H191Q		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	270					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.H213Q(1)|p.H235Q(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACGCCCACCACGCCAAGCACA	0.667000													10	8					0.00829132	0.00881775	1	1	0
MAMLD1	10046	broad.mit.edu	37	X	149638350	149638350	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chrX:149638350G>T	ENST00000370401.2	+	4	815	c.505G>T	c.(505-507)Gtg>Ttg	p.V169L	MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000432680.2_Missense_Mutation_p.V144L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.V169L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.V144L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	169					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.V96L(1)|p.V144L(1)|p.V169L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AATCAACAGCGTGCCGGCTGT	0.478000													42	5					1.07121e-22	1.85614e-22	1	1	0
SLC12A5	57468	broad.mit.edu	37	20	44685923	44685923	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr20:44685923C>A	ENST00000454036.1	+	25	3385	c.3309C>A	c.(3307-3309)aaC>aaA	p.N1103K	SLC12A5_ENST00000243964.3_Missense_Mutation_p.N1080K	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1103					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.N1080K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTCCCCGCAACCGCAATGGTG	0.567000													15	116					7.07596e-05	8.12724e-05	1	1	0
PDHA2	5161	broad.mit.edu	37	4	96761794	96761794	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr4:96761794G>A	ENST00000295266.4	+	1	556	c.493G>A	c.(493-495)Gtc>Atc	p.V165I		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	165					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.V165I(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CAATGGCATCGTCGGTGCACA	0.507000													29	67					0	0	1	0	0
VGF	7425	broad.mit.edu	37	7	100807902	100807902	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr7:100807902G>T	ENST00000249330.2	-	2	462	c.223C>A	c.(223-225)Cag>Aag	p.Q75K	VGF_ENST00000445482.2_Missense_Mutation_p.Q75K	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	75					response to cAMP	extracellular space|transport vesicle	growth factor activity	p.Q75K(1)		cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					TCCACGCCCTGGAAAAGCTCT	0.736000													3	3					1.23904e-05	1.4913e-05	1	1	0
MYH2	4620	broad.mit.edu	37	17	10426814	10426814	+	Splice_Site	SNP	C	C	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr17:10426814C>T	ENST00000245503.5	-	37	5855	c.5472_splice	c.e37+1	p.R1824_splice	MYH2_ENST00000397183.2_Splice_Site_p.R1824_splice|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1824					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1824K(1)		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						GAGACCCACCCTGGCCTCCAG	0.517000													22	42					0	0	1	0	0
PDIA6	10130	broad.mit.edu	37	2	10927471	10927471	+	Missense_Mutation	SNP	G	G	A	rs138012463		TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr2:10927471G>A	ENST00000404371.2	-	13	1586	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C	PDIA6_ENST00000540494.1_Missense_Mutation_p.R362C|PDIA6_ENST00000404824.2_Missense_Mutation_p.R413C|PDIA6_ENST00000381611.4_Missense_Mutation_p.R370C|PDIA6_ENST00000272227.3_Missense_Mutation_p.R365C			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	365					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.R365C(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		TTCATCTTGCGTGCATTGATG	0.493000													39	64					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131912276	131912276	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr7:131912276C>T	ENST00000359827.3	-	7	2778	c.1816G>A	c.(1816-1818)Gtg>Atg	p.V606M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.V606M			Q9HCM2	PLXA4_HUMAN	plexin A4	606						integral to membrane|intracellular|plasma membrane		p.V606M(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGATTGCCCACGACCAGCCCA	0.587000													11	27					0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35570213	35570213	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr1:35570213G>T	ENST00000373330.1	+	7	824	c.650G>T	c.(649-651)tGc>tTc	p.C217F	ZMYM1_ENST00000359858.4_Missense_Mutation_p.C217F|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	217						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	p.C217F(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGTAATGCCTGCCTTTCAAAG	0.358000													29	10					6.07407e-21	1.01741e-20	1	1	0
CHD7	55636	broad.mit.edu	37	8	61777733	61777733	+	Silent	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr8:61777733G>T	ENST00000423902.2	+	38	8714	c.8235G>T	c.(8233-8235)ctG>ctT	p.L2745L	CHD7_ENST00000524602.1_Silent_p.L696L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2745					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.V2746L(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACCCTTTGCTGGTGAACAGCC	0.607000													4	6					0.000602214	0.000668757	1	1	0
ZEB1	6935	broad.mit.edu	37	10	31815998	31815998	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr10:31815998G>T	ENST00000446923.2	+	9	3524	c.3133G>T	c.(3133-3135)Ggg>Tgg	p.G1045W	ZEB1_ENST00000320985.10_Missense_Mutation_p.G1061W|ZEB1_ENST00000361642.5_Missense_Mutation_p.G1062W|ZEB1_ENST00000542815.3_Missense_Mutation_p.G994W|ZEB1_ENST00000560721.2_Missense_Mutation_p.G1041W	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1061	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.G1061W(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				aaaaccacaaggggatgagga	0.438000													10	5					9.70103e-10	1.32647e-09	1	1	0
OR56A3	390083	broad.mit.edu	37	11	5968696	5968696	+	Silent	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr11:5968696C>A	ENST00000329564.6	+	1	127	c.120C>A	c.(118-120)ctC>ctA	p.L40L		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L40L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTTTTCCTCTTGGCCGTAG	0.597000													62	18					6.52717e-41	1.31196e-40	1	1	0
ABI3	51225	broad.mit.edu	37	17	47299555	47299555	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr17:47299555C>A	ENST00000225941.1	+	7	1403	c.905C>A	c.(904-906)cCc>cAc	p.P302H	ABI3_ENST00000419580.2_Missense_Mutation_p.P296H	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	302	Pro-rich.				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding	p.P302H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CCTGATGAGCCCAGCTGGGTG	0.612000										HNSCC(55;0.14)			70	33					1.74474e-33	3.43817e-33	1	1	0
ABCC11	85320	broad.mit.edu	37	16	48256677	48256677	+	Silent	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr16:48256677C>A	ENST00000394747.1	-	5	958	c.609G>T	c.(607-609)gtG>gtT	p.V203V	ABCC11_ENST00000356608.2_Silent_p.V203V|ABCC11_ENST00000353782.5_Silent_p.V203V|ABCC11_ENST00000394748.1_Silent_p.V203V|ABCC11_ENST00000537808.1_Silent_p.V203V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	203	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.V203V(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AGCAGAGTCCCACTCCATGGA	0.458000													9	23					3.86212e-05	4.51329e-05	1	1	0
CELF3	11189	broad.mit.edu	37	1	151677546	151677546	+	Silent	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr1:151677546G>T	ENST00000290583.4	-	12	2162	c.1369C>A	c.(1369-1371)Cgg>Agg	p.R457R	CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Silent_p.R407R|CELF3_ENST00000392706.3_Silent_p.R252R	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	457	RRM 3.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	p.R457R(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						TCCTTAGGCCGCTTTAGCTGG	0.632000													25	36					2.41591e-17	3.91611e-17	1	1	0
TMEM81	388730	broad.mit.edu	37	1	205052919	205052919	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr1:205052919C>A	ENST00000367167.3	-	1	726	c.530G>T	c.(529-531)gGg>gTg	p.G177V		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	177						integral to membrane		p.G177V(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			GACCCTCAACCCAAAATAGAG	0.418000													26	40					1.42536e-11	2.01758e-11	1	1	0
MTR	4548	broad.mit.edu	37	1	237057847	237057847	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr1:237057847G>T	ENST00000366577.5	+	30	3789	c.3395G>T	c.(3394-3396)cGg>cTg	p.R1132L	MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.R1081L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1132	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	p.R1132L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CTGGGGGACCGGCTGGCAGAG	0.607000													13	28					2.62699e-14	4.00019e-14	1	1	0
MMP13	4322	broad.mit.edu	37	11	102816458	102816458	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr11:102816458A>G	ENST00000260302.3	-	9	1260	c.1232T>C	c.(1231-1233)aTt>aCt	p.I411T	MMP13_ENST00000340273.4_Missense_Mutation_p.I411T	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	411	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	p.I411T(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TTTATCCATAATATGGTTAGT	0.303000													18	42					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76503840	76503840	+	Silent	SNP	G	G	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr17:76503840G>A	ENST00000389840.5	-	28	4396	c.4272C>T	c.(4270-4272)caC>caT	p.H1424H	DNAH17_ENST00000585328.1_Silent_p.H1425H					dynein, axonemal, heavy chain 17									p.H1425H(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGTGCGGCTCGTGCTGGAATT	0.552000													4	10					0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19638462	19638462	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr21:19638462G>T	ENST00000338326.3	+	5	1217	c.703G>T	c.(703-705)Gaa>Taa	p.E235*	CHODL_ENST00000400135.1_Nonsense_Mutation_p.E235*|CHODL_ENST00000400127.1_3'UTR|CHODL_ENST00000543733.1_3'UTR|CHODL_ENST00000400128.1_3'UTR|CHODL_ENST00000400131.1_Nonsense_Mutation_p.E235*|CHODL_ENST00000299295.2_3'UTR			Q9H9P2	CHODL_HUMAN	chondrolectin	0					muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding	p.E235*(1)		kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		TCTGCAAGATGAACTGTAAGC	0.343000													10	1					1.33987e-11	1.91003e-11	1	1	0
SEMA6A	57556	broad.mit.edu	37	5	115783135	115783135	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr5:115783135G>A	ENST00000343348.6	-	19	3054	c.2267C>T	c.(2266-2268)cCc>cTc	p.P756L	SEMA6A_ENST00000510263.1_Missense_Mutation_p.P756L|SEMA6A_ENST00000513137.1_Missense_Mutation_p.P183L|SEMA6A_ENST00000282394.6_Missense_Mutation_p.P233L|SEMA6A_ENST00000503865.1_Missense_Mutation_p.P135L|SEMA6A_ENST00000257414.8_Missense_Mutation_p.P773L	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	756					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	p.P756L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CTCTGGGGTGGGGAGGGCCGT	0.627000													67	74					0	0	1	0	0
CCNE1	898	broad.mit.edu	37	19	30314606	30314606	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr19:30314606G>T	ENST00000262643.3	+	12	1434	c.1155G>T	c.(1153-1155)agG>agT	p.R385S	CCNE1_ENST00000444983.2_Missense_Mutation_p.R370S|CCNE1_ENST00000357943.5_Missense_Mutation_p.R342S	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	385					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	p.R385T(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			AACAAAATAGGGCTTCTCCTC	0.527000			A		serous ovarian								17	39					5.03518e-11	7.02828e-11	1	1	0
MYRF	745	broad.mit.edu	37	11	61533653	61533653	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr11:61533653C>A	ENST00000278836.5	+	3	454	c.358C>A	c.(358-360)Ccc>Acc	p.P120T	MYRF_ENST00000265460.5_Missense_Mutation_p.P111T	NM_001127392.1	NP_001120864.1			myelin regulatory factor									p.P111T(1)									GGGCACCGGGCCCCCCATCAA	0.692000													10	20					1.3612e-06	1.72077e-06	1	1	0
OR4X2	119764	broad.mit.edu	37	11	48267190	48267190	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr11:48267190C>A	ENST00000302329.3	+	1	583	c.535C>A	c.(535-537)Ctt>Att	p.L179I		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L179I(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CCTTCTCAAACTTGCCTGCTC	0.478000													87	72					2.5963e-48	5.37997e-48	1	1	0
HTR1F	3355	broad.mit.edu	37	3	88040430	88040430	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr3:88040430C>A	ENST00000319595.4	+	1	585	c.531C>A	c.(529-531)gaC>gaA	p.D177E		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	177					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	p.D177E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TCAAGCACGACCACATTGTTT	0.378000													27	8					7.76418e-22	1.33385e-21	1	1	0
ZNF532	55205	broad.mit.edu	37	18	56651409	56651409	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr18:56651409G>T	ENST00000336078.4	+	11	4393	c.3617G>T	c.(3616-3618)cGg>cTg	p.R1206L	ZNF532_ENST00000591230.1_Missense_Mutation_p.R1206L|ZNF532_ENST00000591083.1_Missense_Mutation_p.R1206L|ZNF532_ENST00000589288.1_Missense_Mutation_p.R1206L|ZNF532_ENST00000591808.1_Missense_Mutation_p.R1206L|ZNF532_ENST00000588956.1_3'UTR	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1206L(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TACCAGTGCCGGGAGTGTGGC	0.532000													3	35					0.004672	0.00499506	1	1	0
SLC2A10	81031	broad.mit.edu	37	20	45355567	45355567	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr20:45355567C>G	ENST00000359271.2	+	3	1603	c.1353C>G	c.(1351-1353)tgC>tgG	p.C451W		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	451						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	p.C451W(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TCGCCTTCTGCAACAGCTTCA	0.567000													6	153					0	0	1	0	0
BECN1	8678	broad.mit.edu	37	17	40962818	40962818	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr17:40962818C>A	ENST00000361523.4	-	12	1445	c.1313G>T	c.(1312-1314)tGg>tTg	p.W438L	BECN1_ENST00000590099.1_Missense_Mutation_p.W438L|CNTD1_ENST00000315066.5_3'UTR|BECN1_ENST00000438274.3_3'UTR	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	438					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	p.W438L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		AGCAAGACCCCACTTAAGATT	0.428000													22	80					1.64293e-13	2.4644e-13	1	1	0
LIPH	200879	broad.mit.edu	37	3	185251403	185251403	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr3:185251403C>T	ENST00000296252.4	-	3	623	c.482G>A	c.(481-483)gGg>gAg	p.G161E	LIPH_ENST00000424591.2_Missense_Mutation_p.G161E	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	161					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	p.G161E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCCAACAAACCCAGATATGTG	0.483000													22	47					0	0	1	0	0
NXF2B	728343	broad.mit.edu	37	X	101623732	101623732	+	Silent	SNP	C	C	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chrX:101623732C>T	ENST00000457521.2	-	19	2501	c.630G>A	c.(628-630)aaG>aaA	p.K210K	NXF2B_ENST00000412230.2_Silent_p.K210K|NXF2B_ENST00000372750.1_Silent_p.K210K|NXF2B_ENST00000372749.1_Silent_p.K210K|NXF2B_ENST00000372752.1_Silent_p.K122K					nuclear RNA export factor 2B									p.K210K(1)		breast(1)|kidney(1)|lung(4)|ovary(1)	7						TTTGGCCTGGCTTCAACTTAT	0.483000													18	33					0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85946755	85946755	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr16:85946755A>G	ENST00000268638.5	+	5	888	c.466A>G	c.(466-468)Atg>Gtg	p.M156V		NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	156					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.M156V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GGACGATTACATGGGGATGAT	0.602000													32	60					0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23329319	23329319	+	Silent	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr19:23329319G>T	ENST00000597761.2	+	4	1672	c.1473G>T	c.(1471-1473)cgG>cgT	p.R491R		NM_001277403.1	NP_001264332.1			zinc finger protein 730									p.R491R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						CCTTTAGGCGGTTCTCACACC	0.348000													2	3					0.0016	0.00175738	1	1	0
CCNE1	898	broad.mit.edu	37	19	30314605	30314605	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr19:30314605G>C	ENST00000262643.3	+	12	1433	c.1154G>C	c.(1153-1155)aGg>aCg	p.R385T	CCNE1_ENST00000444983.2_Missense_Mutation_p.R370T|CCNE1_ENST00000357943.5_Missense_Mutation_p.R342T	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	385					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	p.R385T(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			GAACAAAATAGGGCTTCTCCT	0.527000			A		serous ovarian								17	39					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83170879	83170879	+	Silent	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr11:83170879G>T	ENST00000398309.2	-	23	3065	c.2595C>A	c.(2593-2595)ccC>ccA	p.P865P	DLG2_ENST00000543673.1_Silent_p.P970P|DLG2_ENST00000376104.2_Silent_p.P970P|DLG2_ENST00000537455.1_Silent_p.P615P|DLG2_ENST00000524982.1_Silent_p.P861P|DLG2_ENST00000426717.2_Silent_p.P329P|DLG2_ENST00000330014.6_Silent_p.P786P|DLG2_ENST00000404783.3_Silent_p.P343P|DLG2_ENST00000418306.2_Silent_p.P744P|DLG2_ENST00000376106.3_Silent_p.P329P|DLG2_ENST00000280241.8_Silent_p.P904P|DLG2_ENST00000532653.1_Silent_p.P847P	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	865						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.P744P(1)|p.P865P(1)|p.P970P(1)|p.P904P(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTTCCTTTGAGGGAATCCAGA	0.353000													19	46					2.37509e-13	3.53625e-13	1	1	0
EP300	2033	broad.mit.edu	37	22	41568503	41568503	+	Splice_Site	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr22:41568503G>T	ENST00000263253.7	+	28	5672	c.4452_splice	c.e28-1	p.D1485_splice	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1485					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.D1485Y(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GTTTTCACAGGATATTTTTAA	0.323000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				5	18					0.0293803	0.0301298	1	1	0
TMEM225	338661	broad.mit.edu	37	11	123756006	123756006	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr11:123756006C>T	ENST00000375026.2	-	1	343	c.127G>A	c.(127-129)Gcc>Acc	p.A43T		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	43						integral to membrane		p.A43T(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TTCATCTTGGCTCTTTCATCT	0.463000													25	46					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			15	10					1.49906e-05	1.79352e-05	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21628977	21628977	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr7:21628977T>C	ENST00000328843.6	+	12	2156	c.2125T>C	c.(2125-2127)Ttc>Ctc	p.F709L	DNAH11_ENST00000409508.3_Missense_Mutation_p.F709L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	709	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.F709L(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTTGGTTAAATTCAGTGCCAT	0.323000									Kartagener syndrome				21	63					0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175622341	175622341	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr2:175622341G>C	ENST00000348749.5	-	4	374	c.297C>G	c.(295-297)caC>caG	p.H99Q	CHRNA1_ENST00000261007.5_Missense_Mutation_p.H124Q|CHRNA1_ENST00000409323.1_Missense_Mutation_p.H99Q|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Intron|CHRNA1_ENST00000409219.1_Missense_Mutation_p.H99Q	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	124					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	p.H124Q(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CTGAAGGAATGTGAATTTTTT	0.438000													38	36					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8791618	8791618	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr17:8791618C>T	ENST00000447110.1	-	10	1610	c.1486G>A	c.(1486-1488)Gct>Act	p.A496T	PIK3R5_ENST00000581552.1_Missense_Mutation_p.A496T|PIK3R5_ENST00000584803.1_Missense_Mutation_p.A496T	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	496					platelet activation	cytosol|membrane|nucleus		p.A496T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGGCGTGAAGCAGGGGCCAGA	0.662000													16	28					0	0	1	0	0
FAM204A	63877	broad.mit.edu	37	10	120095077	120095077	+	Missense_Mutation	SNP	C	C	T	rs148686616		TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr10:120095077C>T	ENST00000369183.4	-	4	570	c.311G>A	c.(310-312)cGc>cAc	p.R104H	FAM204A_ENST00000369172.4_Missense_Mutation_p.R104H|FAM204A_ENST00000469758.1_5'UTR	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN	family with sequence similarity 204, member A	104								p.R104H(1)		kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						TTTTCTGGAGCGTTTTCTTCT	0.303000													22	12					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185985107	185985107	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr1:185985107G>T	ENST00000271588.4	+	32	5156	c.4927G>T	c.(4927-4929)Ggc>Tgc	p.G1643C	HMCN1_ENST00000367492.2_Missense_Mutation_p.G1643C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1643	Ig-like C2-type 14.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.G1643C(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATGATTGAAGGCAACTTGGC	0.403000													38	50					5.73237e-09	7.68137e-09	1	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28315732	28315732	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr21:28315732C>A	ENST00000284987.5	-	3	1493	c.1372G>T	c.(1372-1374)Gcc>Tcc	p.A458S		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	458	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.A458S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GTGATGGTGGCTGAAGTGCAT	0.423000													11	20					3.07112e-06	3.76399e-06	1	1	0
ATM	472	broad.mit.edu	37	11	108153446	108153446	+	Nonsense_Mutation	SNP	A	A	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr11:108153446A>T	ENST00000278616.4	+	25	3971	c.3586A>T	c.(3586-3588)Aaa>Taa	p.K1196*	ATM_ENST00000452508.2_Nonsense_Mutation_p.K1196*	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1196					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.K1196*(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GGTTTTAGAGAAAGTTTCTGA	0.289000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			47	18					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369186	22369186	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr15:22369186G>T	ENST00000332663.2	+	1	709	c.611G>T	c.(610-612)gGt>gTt	p.G204V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G204V(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGTAGTAGTGGTCTGATCTCT	0.468000													77	30					2.02726e-29	3.84415e-29	1	1	0
DLGAP2	9228	broad.mit.edu	37	8	1496873	1496873	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr8:1496873C>A	ENST00000421627.2	+	2	148	c.14C>A	c.(13-15)tCc>tAc	p.S5Y		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	84					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.S27Y(1)|p.S49Y(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AAGGGCCTTTCCGGAAGTCGG	0.687000													6	9					2.0095e-06	2.52443e-06	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228554800	228554800	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr1:228554800G>T	ENST00000570156.2	+	97	22497	c.22423G>T	c.(22423-22425)Gcg>Tcg	p.A7475S	OBSCN_ENST00000366707.4_Missense_Mutation_p.A4152S|OBSCN_ENST00000422127.1_Missense_Mutation_p.A6518S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6518	Ig-like 55.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.A7230S(1)|p.A7100S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CATCCTGGCCGCGCTGAGCCA	0.612000													5	6					4.096e-09	5.56281e-09	1	1	0
MUC17	140453	broad.mit.edu	37	7	100682994	100682994	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr7:100682994C>G	ENST00000306151.4	+	3	8361	c.8297C>G	c.(8296-8298)tCt>tGt	p.S2766C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2766	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S2766C(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGGCCAGTTCTGAGGCTAGC	0.493000													154	131					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30408221	30408221	+	Silent	SNP	G	G	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr20:30408221G>A	ENST00000375994.2	+	2	618	c.345G>A	c.(343-345)caG>caA	p.Q115Q	MYLK2_ENST00000375985.4_Silent_p.Q115Q			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	115					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.Q115Q(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGGCTGAGCAGGGAGCCTCAG	0.692000													23	33					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741968	140741968	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr5:140741968G>T	ENST00000522605.1	+	1	2266	c.2266G>T	c.(2266-2268)Gtt>Ttt	p.V756F	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1												p.V756F(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCTGTGTGTTGCCTCACA	0.507000													80	62					6.11987e-43	1.2552e-42	1	1	0
PLEKHG4	25894	broad.mit.edu	37	16	67322099	67322099	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr16:67322099G>T	ENST00000360461.5	+	19	5785	c.3250G>T	c.(3250-3252)Gcc>Tcc	p.A1084S	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.A1084S|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.A1003S|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.A1084S	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	1084					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.A1084S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CATTGCCGTAGCCCCGTTTGA	0.607000													18	61					1.01871e-10	1.40247e-10	1	1	0
OR2T2	401992	broad.mit.edu	37	1	248616264	248616264	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr1:248616264C>A	ENST00000342927.3	+	1	188	c.166C>A	c.(166-168)Ctc>Atc	p.L56I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L56I(1)		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)			GGACTCCCGCCTCCACACACC	0.512000													4	86					5.9392e-07	7.65243e-07	1	1	0
DNMT3A	1788	broad.mit.edu	37	2	25468195	25468195	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr2:25468195C>G	ENST00000264709.3	-	13	1818	c.1481G>C	c.(1480-1482)tGc>tCc	p.C494S	DNMT3A_ENST00000402667.1_Missense_Mutation_p.C271S|DNMT3A_ENST00000380746.4_Missense_Mutation_p.C305S|DNMT3A_ENST00000321117.5_Missense_Mutation_p.C494S	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	494	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.C305S(1)|p.C494S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGGAGATGCAGATGTCTGG	0.602000			"""Mis, F, N, S"""		AML								9	15					0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241536200	241536200	+	Silent	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr2:241536200G>T	ENST00000391984.2	+	9	1780	c.1584G>T	c.(1582-1584)acG>acT	p.T528T	CAPN10_ENST00000404753.3_Silent_p.T528T|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	528	Domain III 2.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	p.T528T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TCGGCCAGACGGCGGGGGGCA	0.701000													27	26					2.24059e-21	3.81661e-21	1	1	0
TMEM255B	348013	broad.mit.edu	37	13	114507949	114507949	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr13:114507949G>T	ENST00000375353.3	+	8	788	c.761G>T	c.(760-762)cGc>cTc	p.R254L	TMEM255B_ENST00000467169.1_3'UTR	NM_182614.2	NP_872420.1			transmembrane protein 255B									p.R254L(1)									GCAGGCTTCCGCCTGACGCCC	0.677000													36	7					6.2361e-21	1.03591e-20	1	1	0
ABCA3	21	broad.mit.edu	37	16	2338079	2338079	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr16:2338079C>A	ENST00000301732.5	-	21	3652	c.2952G>T	c.(2950-2952)gaG>gaT	p.E984D	ABCA3_ENST00000382381.3_Missense_Mutation_p.E926D	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	984					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.E984D(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CTTTCAGATGCTCTGACAGCT	0.677000													5	7					1.23904e-05	1.4913e-05	1	1	0
SH3BP1	23616	broad.mit.edu	37	22	38046636	38046636	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr22:38046636C>T	ENST00000599616.1	+	14	1310	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_Missense_Mutation_p.S501F			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	501	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	p.S501F(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GAACTTCCGTCCACTGCCGTG	0.622000													15	32					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223567018	223567018	+	Silent	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr1:223567018C>A	ENST00000366875.3	+	1	304	c.201C>A	c.(199-201)acC>acA	p.T67T		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	67								p.T67T(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GTTCGTTCACCCCGCGGCCTC	0.721000													10	12					6.40141e-05	7.39473e-05	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50779824	50779824	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr2:50779824G>T	ENST00000404971.1	-	10	3119	c.1780C>A	c.(1780-1782)Ctg>Atg	p.L594M	NRXN1_ENST00000402717.3_Missense_Mutation_p.L546M|NRXN1_ENST00000401669.2_Missense_Mutation_p.L554M|NRXN1_ENST00000406859.3_Missense_Mutation_p.L554M|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Missense_Mutation_p.L554M|NRXN1_ENST00000405472.3_Missense_Mutation_p.L546M	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	554	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.L595M(1)|p.L594M(1)|p.L554M(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCCATGTCCAGGAGGAGGTAG	0.473000													58	83					9.59835e-30	1.8374e-29	1	1	0
PARP9	83666	broad.mit.edu	37	3	122259566	122259566	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr3:122259566C>G	ENST00000462315.1	-	8	1811	c.1518G>C	c.(1516-1518)caG>caC	p.Q506H	PARP9_ENST00000492382.1_Missense_Mutation_p.Q86H|PARP9_ENST00000360356.2_Missense_Mutation_p.Q541H|PARP9_ENST00000471785.1_Missense_Mutation_p.Q506H|PARP9_ENST00000477522.2_Missense_Mutation_p.Q506H	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	541					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	p.Q541H(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TGTGGTGGTTCTGGAGACTCA	0.443000													6	98					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103907704	103907704	+	Silent	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr11:103907704C>A	ENST00000302259.3	+	1	397	c.154C>A	c.(154-156)Cga>Aga	p.R52R	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	52	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity	p.R52R(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCACATGGAGCGACTCCTCAT	0.572000													62	25					5.10508e-28	9.41396e-28	1	1	0
MAP3K19	80122	broad.mit.edu	37	2	135756462	135756462	+	Silent	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr2:135756462G>T	ENST00000375845.3	-	5	450	c.420C>A	c.(418-420)ccC>ccA	p.P140P	MAP3K19_ENST00000392915.1_Silent_p.P157P|MAP3K19_ENST00000392917.3_Silent_p.P140P|MAP3K19_ENST00000392918.3_Silent_p.P140P|MAP3K19_ENST00000375844.3_Silent_p.P140P|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000315513.3_5'UTR	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19									p.P140P(1)									GCAAAACTAAGGGCCGCATGG	0.433000													11	43					3.07112e-06	3.76399e-06	1	1	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	14					1	1	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745683	77745683	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr2:77745683T>C	ENST00000409088.3	-	3	1726	c.1312A>G	c.(1312-1314)Atg>Gtg	p.M438V	LRRTM4_ENST00000409093.1_Missense_Mutation_p.M438V|LRRTM4_ENST00000409884.1_Missense_Mutation_p.M438V|LRRTM4_ENST00000409282.1_Missense_Mutation_p.M439V|LRRTM4_ENST00000409911.1_Missense_Mutation_p.M439V	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	438						integral to membrane		p.M438V(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAGAGGATCATGGCCACTGAG	0.493000													39	33					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22804516	22804516	+	Silent	SNP	C	C	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr18:22804516C>T	ENST00000361524.3	-	4	3514	c.3366G>A	c.(3364-3366)gaG>gaA	p.E1122E	ZNF521_ENST00000538137.2_Silent_p.E1122E|ZNF521_ENST00000584787.1_Silent_p.E902E	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1122					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.E1122E(1)		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)					CACTCAGATTCTCATTCTGGC	0.547000			T	PAX5	ALL								22	16					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32453386	32453386	+	Silent	SNP	G	G	T	rs147561043		TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr8:32453386G>T	ENST00000341377.5	+	2	658	c.141G>T	c.(139-141)tcG>tcT	p.S47S	NRG1_ENST00000356819.4_Silent_p.S47S|NRG1_ENST00000338921.4_Silent_p.S47S|NRG1_ENST00000287845.5_Silent_p.S47S|NRG1_ENST00000405005.2_Silent_p.S47S|NRG1_ENST00000519301.1_Silent_p.S26S|NRG1_ENST00000287842.3_Silent_p.S47S|NRG1_ENST00000287840.5_Silent_p.S47S|NRG1_ENST00000521670.1_Silent_p.S47S|NRG1_ENST00000520407.1_Silent_p.S262S|NRG1_ENST00000523079.1_Silent_p.S47S			Q02297	NRG1_HUMAN	neuregulin 1	47	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.S47S(2)|p.S262S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCCAGGAATCGGCTGCAGGTT	0.413000													57	34					9.59835e-30	1.8374e-29	1	1	0
CEP70	80321	broad.mit.edu	37	3	138219359	138219359	+	Silent	SNP	G	G	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr3:138219359G>A	ENST00000264982.3	-	15	1685	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	CEP70_ENST00000542237.1_Silent_p.F453F|CEP70_ENST00000489254.1_Silent_p.F321F|CEP70_ENST00000484888.1_Silent_p.F473F|CEP70_ENST00000481834.1_Silent_p.F473F	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	473					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	p.F473F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						ATAACTTTTGGAAGTGAGAAA	0.353000													88	125					0	0	1	0	0
FTCD	10841	broad.mit.edu	37	21	47556403	47556403	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr21:47556403G>T	ENST00000397748.1	-	15	1727	c.1684C>A	c.(1684-1686)Cca>Aca	p.P562T	FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000359679.2_Missense_Mutation_p.P562T|FTCD_ENST00000355384.2_3'UTR|FTCD_ENST00000291670.5_3'UTR			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	0					folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GCTGTCCCTGGGGTTTCTGTC	0.622000													15	3					4.14922e-12	5.99995e-12	1	1	0
LRRC32	2615	broad.mit.edu	37	11	76372262	76372262	+	Silent	SNP	G	G	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr11:76372262G>A	ENST00000407242.2	-	3	617	c.375C>T	c.(373-375)cgC>cgT	p.R125R	LRRC32_ENST00000404995.1_Silent_p.R125R|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.R125R	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	125						integral to plasma membrane		p.R125R(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GGGAGGTCACGCGTGGCAGGG	0.692000													32	34					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346861	71346861	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr4:71346861C>A	ENST00000413702.1	+	4	688	c.400C>A	c.(400-402)Cag>Aag	p.Q134K	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.Q134K|MUC7_ENST00000304887.5_Missense_Mutation_p.Q134K	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	134	Thr-rich.					extracellular region	protein binding	p.Q134K(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TTTTCTTCCCCAGAATGCCAC	0.453000													38	59					4.32679e-17	6.95748e-17	1	1	0
MYH13	8735	broad.mit.edu	37	17	10212976	10212976	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr17:10212976G>A	ENST00000418404.3	-	33	4991	c.4828C>T	c.(4828-4830)Cgc>Tgc	p.R1610C	MYH13_ENST00000570743.1_Missense_Mutation_p.R1610C|MYH13_ENST00000252172.4_Missense_Mutation_p.R1610C			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1610					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.R1610C(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTCCGGCTGCGGATTTCAGCA	0.552000													6	11					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497586	1497586	+	Missense_Mutation	SNP	G	G	T	rs145069342	by1000genomes	TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr8:1497586G>T	ENST00000421627.2	+	2	861	c.727G>T	c.(727-729)Gtg>Ttg	p.V243L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	322					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.V287L(1)|p.V265L(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCTGGGCCCCGTGGCCCACTG	0.677000													47	67					4.6707e-30	9.11467e-30	1	1	0
GALNT5	11227	broad.mit.edu	37	2	158142621	158142621	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr2:158142621G>T	ENST00000259056.4	+	3	2201	c.1716G>T	c.(1714-1716)agG>agT	p.R572S		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	572	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R572S(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TAAGGGCCAGGCTGGCAGGAG	0.343000													9	40					5.16669e-11	7.1621e-11	1	1	0
MYBL2	4605	broad.mit.edu	37	20	42331478	42331478	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr20:42331478G>T	ENST00000217026.4	+	8	1427	c.1300G>T	c.(1300-1302)Gat>Tat	p.D434Y	MYBL2_ENST00000396863.4_Missense_Mutation_p.D410Y	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	434						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.D434Y(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GTCCTTCCTGGATTCCTGTAA	0.602000													23	46					4.16121e-05	4.8347e-05	1	1	0
RIPK4	54101	broad.mit.edu	37	21	43187057	43187057	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr21:43187057C>T	ENST00000352483.2	-	1	209	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	RIPK4_ENST00000332512.3_Missense_Mutation_p.A49T			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	49						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.A49T(2)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CACTTGATGGCCAGCCAGGTC	0.731000													9	7					0	0	1	0	0
LOC93432	93432	broad.mit.edu	37	7	141833894	141833894	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr7:141833894G>A	ENST00000477922.3	+	7	743	c.689G>A	c.(688-690)cGc>cAc	p.R230H	RP11-1220K2.2_ENST00000550469.2_Missense_Mutation_p.R230H														p.R230H(2)		endometrium(1)|lung(5)	6						CAGCAGTACCGCCACAATATG	0.587000													7	12					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588899	140588899	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr5:140588899A>T	ENST00000239450.2	+	1	609	c.420A>T	c.(418-420)ttA>ttT	p.L140F	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		140	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.L140F(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATGCTCTTAGAAATCCCAG	0.388000													54	48					0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6306758	6306758	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr19:6306758G>T	ENST00000301452.4	-	6	839	c.762C>A	c.(760-762)taC>taA	p.Y254*		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	254						endoplasmic reticulum membrane|integral to membrane	ceramidase activity	p.Y254*(1)		NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GGATTTCCACGTAGGGCAGCC	0.577000													13	3					2.23348e-06	2.77117e-06	1	1	0
OR2C1	4993	broad.mit.edu	37	16	3406340	3406340	+	Missense_Mutation	SNP	G	G	A	rs147461021	byFrequency	TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr16:3406340G>A	ENST00000304936.2	+	1	452	c.400G>A	c.(400-402)Gcc>Acc	p.A134T		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A134T(1)		kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCGCTACACCGCCATCATGAA	0.612000													14	27					0	0	1	0	0
PGM1	5236	broad.mit.edu	37	1	64114274	64114274	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr1:64114274G>C	ENST00000371083.4	+	8	1653	c.1285G>C	c.(1285-1287)Gac>Cac	p.D429H	PGM1_ENST00000540265.1_Missense_Mutation_p.D214H|PGM1_ENST00000371084.3_Missense_Mutation_p.D411H	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	411					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	p.D429H(1)|p.D411H(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GAGTGTGGAGGACATTCTCAA	0.562000													3	44					0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102189285	102189285	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr3:102189285G>T	ENST00000306176.1	+	9	1129	c.1029G>T	c.(1027-1029)tgG>tgT	p.W343C	ZPLD1_ENST00000466937.1_Missense_Mutation_p.W327C|ZPLD1_ENST00000491959.1_Missense_Mutation_p.W327C	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	327						integral to membrane		p.W343C(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GGACGACTTGGAGCCCCCAGA	0.507000													17	7					5.03518e-11	7.02828e-11	1	1	0
SEC23A	10484	broad.mit.edu	37	14	39560913	39560913	+	Missense_Mutation	SNP	C	C	A	rs148560912		TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr14:39560913C>A	ENST00000307712.6	-	5	888	c.371G>T	c.(370-372)gGt>gTt	p.G124V	SEC23A_ENST00000536508.1_5'UTR|SEC23A_ENST00000545328.2_Missense_Mutation_p.G95V	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	124					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	p.G124V(1)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CATCTGAGGACCACGCTTTTA	0.343000													35	34					9.45814e-24	1.66762e-23	1	1	0
TRIM49	57093	broad.mit.edu	37	11	89531774	89531774	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr11:89531774C>A	ENST00000329758.1	-	8	1211	c.883G>T	c.(883-885)Gaa>Taa	p.E295*	TRIM49_ENST00000532501.2_Nonsense_Mutation_p.E218*	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	295	B30.2/SPRY.					intracellular	zinc ion binding	p.E295*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTGTTGGCTTCTTCATGATGC	0.308000													8	19					1.06961e-07	1.39605e-07	1	1	0
SPNS3	201305	broad.mit.edu	37	17	4337281	4337281	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr17:4337281G>T	ENST00000355530.2	+	1	299	c.19G>T	c.(19-21)Gcg>Tcg	p.A7S	SPNS3_ENST00000333476.2_5'UTR|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	7					lipid transport|transmembrane transport	integral to membrane		p.A7S(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GGGGATGTCAGCGGAGTGCCC	0.667000													6	8					8.12818e-05	9.28276e-05	1	1	0
FAM47A	158724	broad.mit.edu	37	X	34150162	34150162	+	Silent	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chrX:34150162G>T	ENST00000346193.3	-	1	285	c.234C>A	c.(232-234)ctC>ctA	p.L78L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	78								p.L78L(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ATATTTTGGGGAGTAAAAACT	0.542000													20	45					2.94398e-08	3.91881e-08	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57769769	57769769	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr20:57769769C>A	ENST00000371030.2	+	1	3695	c.3695C>A	c.(3694-3696)aCc>aAc	p.T1232N		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1232						intracellular	nucleic acid binding|zinc ion binding	p.T1232N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGAGGATGGACCTGGACAAGC	0.602000													6	41					0.0215528	0.0224461	1	1	0
PAPD4	167153	broad.mit.edu	37	5	78964730	78964730	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr5:78964730G>T	ENST00000453514.1	+	12	1780	c.1087G>T	c.(1087-1089)Gct>Tct	p.A363S	PAPD4_ENST00000296783.3_Missense_Mutation_p.A363S|PAPD4_ENST00000428308.2_Missense_Mutation_p.A363S|PAPD4_ENST00000504233.1_Missense_Mutation_p.A320S|PAPD4_ENST00000423041.2_Missense_Mutation_p.A359S	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	363					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity	p.A363S(1)		biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		TTTTAGTCCTGCTATACAGCT	0.393000													92	163					1.66795e-42	3.38644e-42	1	1	0
DNM1P47	100216544	broad.mit.edu	37	15	102296140	102296140	+	RNA	SNP	C	C	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr15:102296140C>T	ENST00000561463.1	+	0	4186																											GTCCAACCTGCACTCGCGTGG	0.602000													4	3					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190554683	190554683	+	Silent	SNP	T	T	C			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr2:190554683T>C	ENST00000520309.1	+	3	1120	c.1032T>C	c.(1030-1032)ccT>ccC	p.P344P	ANKAR_ENST00000281412.6_Silent_p.P108P|ANKAR_ENST00000431575.2_Silent_p.P273P|ANKAR_ENST00000313581.4_Silent_p.P344P|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000438402.2_Silent_p.P344P	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	344						integral to membrane	binding	p.P344P(1)|p.P273P(1)|p.S346fs*59(1)|p.S275fs*59(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGCTTCAGCCTTTTTCAGGTA	0.289000													3	65					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs115565146	by1000genomes	TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr6:32725596C>G	ENST00000435145.2	-	4	772	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Silent_p.L237L			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562000													3	17					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24511534	24511534	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr5:24511534C>A	ENST00000264463.4	-	6	1411	c.904G>T	c.(904-906)Gct>Tct	p.A302S		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	302	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A302S(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCTACTTCAGCATTTTTCCCA	0.428000										HNSCC(23;0.051)			26	104					7.92952e-12	1.13845e-11	1	1	0
RASAL1	8437	broad.mit.edu	37	12	113554954	113554954	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr12:113554954G>T	ENST00000546530.1	-	9	940	c.655C>A	c.(655-657)Cca>Aca	p.P219T	RASAL1_ENST00000446861.3_Missense_Mutation_p.P219T|RASAL1_ENST00000548055.1_Missense_Mutation_p.P219T|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Missense_Mutation_p.P219T	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	219					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	p.P219T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGGGTCTTTGGAGAGAACTCC	0.612000													25	16					1.2476e-16	1.99022e-16	1	1	0
KRT12	3859	broad.mit.edu	37	17	39021155	39021155	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr17:39021155C>T	ENST00000251643.4	-	3	733	c.710G>A	c.(709-711)cGg>cAg	p.R237Q		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	237	Coil 1B.|Rod.				visual perception	intermediate filament	structural molecule activity	p.R237Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				GTCCAGCACCCGGCGCAGGCC	0.572000													36	114					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13717423	13717423	+	Splice_Site	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr5:13717423C>A	ENST00000265104.4	-	73	12810		c.e73+1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.?(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGCGGCAGTACCTTTTTGACA	0.493000									Kartagener syndrome				13	19					4.7546e-09	6.41393e-09	1	1	0
AMBRA1	55626	broad.mit.edu	37	11	46419198	46419198	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr11:46419198C>A	ENST00000458649.2	-	18	4117	c.3699G>T	c.(3697-3699)tgG>tgT	p.W1233C	AMBRA1_ENST00000298834.3_Missense_Mutation_p.W1173C|AMBRA1_ENST00000426438.1_Missense_Mutation_p.W1204C|AMBRA1_ENST00000534300.1_Missense_Mutation_p.W1173C|AMBRA1_ENST00000533727.1_Missense_Mutation_p.W1114C|AMBRA1_ENST00000528950.1_Missense_Mutation_p.W1204C|AMBRA1_ENST00000314845.3_Missense_Mutation_p.W1143C			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1233					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		p.W1233C(1)|p.W1143C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CAGGCTGGTCCCAGGAAGCTG	0.687000													17	5					3.32936e-07	4.31743e-07	1	1	0
AMELY	266	broad.mit.edu	37	Y	6736166	6736166	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chrY:6736166A>T	ENST00000215479.5	-	5	552	c.485T>A	c.(484-486)aTg>aAg	p.M162K	AMELY_ENST00000383037.4_Missense_Mutation_p.M176K|AMELY_ENST00000383036.1_Missense_Mutation_p.M176K	NM_001143.1	NP_001134.1	Q99218	AMELY_HUMAN	amelogenin, Y-linked	176	Gln-rich.				biomineral tissue development	proteinaceous extracellular matrix	structural constituent of tooth enamel	p.M162K(1)		NS(1)|lung(5)	6						CAGGGGGAACATTGGAGGCAG	0.627000													2	2					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24419571	24419571	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr1:24419571C>A	ENST00000330966.7	-	10	1121	c.959G>T	c.(958-960)cGg>cTg	p.R320L	MYOM3_ENST00000329601.7_Missense_Mutation_p.R319L|MYOM3_ENST00000374434.3_Missense_Mutation_p.R319L|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	319	Ig-like C2-type 2.							p.R319L(1)		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)		GAGGATCTTCCGACGTCTCGA	0.622000													18	3					6.33239e-15	9.79084e-15	1	1	0
DNMT3A	1788	broad.mit.edu	37	2	25468194	25468194	+	Silent	SNP	G	G	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr2:25468194G>A	ENST00000264709.3	-	13	1819	c.1482C>T	c.(1480-1482)tgC>tgT	p.C494C	DNMT3A_ENST00000402667.1_Silent_p.C271C|DNMT3A_ENST00000380746.4_Silent_p.C305C|DNMT3A_ENST00000321117.5_Silent_p.C494C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	494	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.C305S(1)|p.C494S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACAGGAGATGCAGATGTCTG	0.602000			"""Mis, F, N, S"""		AML								8	17					0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37537272	37537272	+	Silent	SNP	C	C	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr9:37537272C>T	ENST00000432825.2	-	3	1302	c.1254G>A	c.(1252-1254)aaG>aaA	p.K418K	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	418						ubiquitin ligase complex	ubiquitin-protein ligase activity	p.K418K(1)		breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCATGGCCTCCTTATCCTTCT	0.627000													13	20					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156964936	156964936	+	Silent	SNP	G	G	C			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr5:156964936G>C	ENST00000257527.4	-	4	393	c.315C>G	c.(313-315)acC>acG	p.T105T	ADAM19_ENST00000517905.1_Silent_p.T105T|ADAM19_ENST00000394020.1_Silent_p.T107T|ADAM19_ENST00000430702.2_5'UTR	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	105					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	p.T105T(1)|p.T106T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATTTCCGTGTGGTGGTTTGAG	0.443000													14	30					0	0	1	0	0
IL17RE	132014	broad.mit.edu	37	3	9948463	9948463	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr3:9948463A>T	ENST00000454190.2	+	5	525	c.440A>T	c.(439-441)cAc>cTc	p.H147L	IL17RE_ENST00000421412.1_Missense_Mutation_p.H180L|IL17RE_ENST00000295980.3_Missense_Mutation_p.H147L|IL17RE_ENST00000383814.3_Missense_Mutation_p.H147L	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	147						cytoplasm|extracellular region|integral to membrane	receptor activity	p.H147L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		GACATCTCCCACAAGGGACTT	0.542000													6	88					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158747003	158747003	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr1:158747003A>C	ENST00000339258.1	-	1	422	c.423T>G	c.(421-423)tgT>tgG	p.C141W		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C141W(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CCATCTTGGCACAGAGTGTGG	0.502000													16	59					0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	64061909	64061909	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr12:64061909G>T	ENST00000324472.4	-	1	448	c.265C>A	c.(265-267)Ctg>Atg	p.L89M	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	89					multicellular organismal development|spermatid development	integral to membrane		p.L89M(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AGCTGCGCCAGGGAATTACGG	0.607000													74	52					1.45978e-39	2.90511e-39	1	1	0
DLG2	1740	broad.mit.edu	37	11	83177805	83177805	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr11:83177805G>T	ENST00000398309.2	-	21	2830	c.2360C>A	c.(2359-2361)gCc>gAc	p.A787D	DLG2_ENST00000543673.1_Missense_Mutation_p.A892D|DLG2_ENST00000376104.2_Missense_Mutation_p.A892D|DLG2_ENST00000537455.1_Missense_Mutation_p.A537D|DLG2_ENST00000524982.1_Missense_Mutation_p.A783D|DLG2_ENST00000426717.2_Missense_Mutation_p.A251D|DLG2_ENST00000330014.6_Missense_Mutation_p.A708D|DLG2_ENST00000531015.1_Missense_Mutation_p.A754D|DLG2_ENST00000404783.3_Missense_Mutation_p.A265D|DLG2_ENST00000418306.2_Missense_Mutation_p.A666D|DLG2_ENST00000376106.3_Missense_Mutation_p.A251D|DLG2_ENST00000280241.8_Missense_Mutation_p.A826D|DLG2_ENST00000532653.1_Missense_Mutation_p.A769D	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	787	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.A787D(1)|p.A826D(1)|p.A666D(1)|p.A892D(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ATAGAGCTGGGCAACTTGTAA	0.433000													19	64					1.45105e-14	2.22642e-14	1	1	0
KIAA0196	9897	broad.mit.edu	37	8	126085512	126085512	+	Silent	SNP	G	G	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr8:126085512G>A	ENST00000318410.7	-	9	1382	c.1033C>T	c.(1033-1035)Cta>Tta	p.L345L	KIAA0196_ENST00000517845.1_Silent_p.L197L	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	345					cell death	WASH complex		p.L345L(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CCTTCTTTTAGAAATTGCTGC	0.398000													13	56					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36873066	36873066	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr17:36873066G>T	ENST00000325718.7	+	10	1574	c.1483G>T	c.(1483-1485)Gcc>Tcc	p.A495S	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	495					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	p.A495S(1)		breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGGCCCAGCTGCCCCATCCTT	0.662000			T	MLL	AL								5	25					3.59834e-05	4.22962e-05	1	1	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													4	144					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176284	140176284	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr5:140176284G>T	ENST00000526136.1	+	1	1735	c.1735G>T	c.(1735-1737)Gag>Tag	p.E579*	PCDHA2_ENST00000520672.2_Nonsense_Mutation_p.E579*|PCDHA2_ENST00000378132.1_Nonsense_Mutation_p.E579*|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1												p.E579*(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGTGAGTGAGCTGGTGCC	0.662000													39	34					2.35958e-20	3.88751e-20	1	1	0
ZNF33A	7581	broad.mit.edu	37	10	38343661	38343661	+	Silent	SNP	T	T	C			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr10:38343661T>C	ENST00000374618.3	+	5	787	c.609T>C	c.(607-609)caT>caC	p.H203H	ZNF33A_ENST00000432900.2_Silent_p.H209H|ZNF33A_ENST00000307441.9_Silent_p.H202H|ZNF33A_ENST00000458705.2_Silent_p.H202H|ZNF33A_ENST00000469037.2_Intron	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	202						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H202H(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TGAGTCATCATGAGGAGACTT	0.348000													19	65					0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149584134	149584134	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr5:149584134G>T	ENST00000230671.2	+	11	1743	c.1372G>T	c.(1372-1374)Gcc>Tcc	p.A458S	SLC6A7_ENST00000524041.1_Missense_Mutation_p.A458S	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	458						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	p.A458S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TGACTACAGCGCCAGCTTCGG	0.592000													8	32					0.0381472	0.0389218	1	1	0
PZP	5858	broad.mit.edu	37	12	9305844	9305844	+	Silent	SNP	C	C	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr12:9305844C>T	ENST00000261336.2	-	30	3898	c.3870G>A	c.(3868-3870)caG>caA	p.Q1290Q	PZP_ENST00000381997.2_Silent_p.Q1076Q	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.Q1076Q(1)|p.Q1290Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TAGAAAAGGTCTGTGAATCCT	0.478000													30	85					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135428901	135428901	+	Silent	SNP	T	T	C			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chrX:135428901T>C	ENST00000394143.1	+	6	3327	c.3036T>C	c.(3034-3036)acT>acC	p.T1012T	GPR112_ENST00000287534.4_Silent_p.T949T|GPR112_ENST00000412101.1_Silent_p.T807T|GPR112_ENST00000394141.1_Silent_p.T807T|GPR112_ENST00000370652.1_Silent_p.T1012T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1012					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T1012T(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGCCTGTTACTCATATGTTCT	0.507000													103	19					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86042158	86042158	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr8:86042158G>A	ENST00000414626.2	+	10	2460	c.1571G>A	c.(1570-1572)aGa>aAa	p.R524K	LRRCC1_ENST00000360375.3_Missense_Mutation_p.R544K			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	544					cell division|mitosis	centriole|nucleus		p.R544K(1)|p.R524K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ACTCAGATAAGACTGATCCAA	0.373000													4	99					0	0	1	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118386480	118386480	+	RNA	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr10:118386480G>T	ENST00000537242.1	+	0	462				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	p.E146*(2)		endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TGTTGGGGCGGAGACAGCTTT	0.577000													5	1					0.184627	0.186483	1	1	0
KIR3DL1	3811	broad.mit.edu	37	19	55331209	55331209	+	Silent	SNP	C	C	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr19:55331209C>T	ENST00000391728.4	+	4	430	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L	KIR3DL1_ENST00000538269.1_Silent_p.L133L|KIR3DL1_ENST00000326542.7_Silent_p.L133L|KIR3DL1_ENST00000541392.1_Silent_p.L133L|KIR3DL1_ENST00000358178.4_Silent_p.L38L|KIR3DL1_ENST00000402254.2_Silent_p.L133L	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1									p.L133L(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCCAGGTCCCCTGGTGAAATC	0.488000													40	29					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76162966	76162966	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr11:76162966G>T	ENST00000529032.1	+	2	135	c.135G>T	c.(133-135)aaG>aaT	p.K45N	C11orf30_ENST00000525919.1_Missense_Mutation_p.K45N|C11orf30_ENST00000533988.1_Missense_Mutation_p.K45N|C11orf30_ENST00000525959.1_3'UTR|C11orf30_ENST00000524490.1_Missense_Mutation_p.K45N|C11orf30_ENST00000533248.1_Missense_Mutation_p.K45N|C11orf30_ENST00000524767.1_Missense_Mutation_p.K45N|C11orf30_ENST00000525038.1_Missense_Mutation_p.K45N|C11orf30_ENST00000334736.3_Missense_Mutation_p.K45N|C11orf30_ENST00000343878.3_Missense_Mutation_p.K45N			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	45	ENT.|Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.K45N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CCAAGGAAAAGAAAGATCTTC	0.348000													17	12					8.10497e-08	1.06477e-07	1	1	0
NANOG	79923	broad.mit.edu	37	12	7942298	7942298	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr12:7942298G>A	ENST00000229307.4	+	1	307	c.88G>A	c.(88-90)Ggg>Agg	p.G30R	NANOG_ENST00000526286.1_Missense_Mutation_p.G30R	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	30					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G30R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		TGTGATTTGTGGGCCTGAAGA	0.448000													43	78					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60913645	60913645	+	Silent	SNP	T	T	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr20:60913645T>A	ENST00000252999.3	-	12	1563	c.1497A>T	c.(1495-1497)gcA>gcT	p.A499A		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	499	Laminin EGF-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.A499A(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTGGGTCCCTGCCGCGCTGC	0.647000													10	6					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559087	1559087	+	Silent	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr20:1559087G>T	ENST00000381605.4	-	2	394	c.330C>A	c.(328-330)atC>atA	p.I110I	SIRPB1_ENST00000381603.3_Silent_p.I110I|SIRPB1_ENST00000262929.5_Silent_p.I109I|RP4-576H24.4_ENST00000564763.1_Silent_p.I110I	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	110	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.I110I(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CTGCTGGGGTGATGTTACTGA	0.502000													39	83					2.58029e-29	4.84708e-29	1	1	0
KCNH1	3756	broad.mit.edu	37	1	211276891	211276891	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr1:211276891G>A	ENST00000367007.4	-	3	426	c.257C>T	c.(256-258)aCa>aTa	p.T86I	KCNH1_ENST00000271751.4_Missense_Mutation_p.T86I	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	86	PAS.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.T86I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTTCTCAAATGTTTGCCGCAC	0.338000													15	57					0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143055984	143055984	+	Silent	SNP	C	C	G			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr7:143055984C>G	ENST00000409408.1	-	4	2026	c.318G>C	c.(316-318)gtG>gtC	p.V106V	FAM131B_ENST00000409578.1_Silent_p.V122V|FAM131B_ENST00000443739.2_Silent_p.V134V|FAM131B_ENST00000409222.3_Silent_p.V106V|FAM131B_ENST00000409346.1_Silent_p.V106V			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	106								p.V106V(1)|p.V134V(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					TATCCCTGCGCACGGACTCAT	0.592000													15	22					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66231689	66231689	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr4:66231689C>G	ENST00000273854.3	-	11	2611	c.2011G>C	c.(2011-2013)Gaa>Caa	p.E671Q	EPHA5_ENST00000354839.4_Missense_Mutation_p.E649Q|EPHA5_ENST00000432638.2_Missense_Mutation_p.E508Q|EPHA5_ENST00000511294.1_Missense_Mutation_p.E672Q	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	671					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	p.E671Q(1)		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						CATGATGCTTCTATCTCCTTA	0.358000										TSP Lung(17;0.13)			46	40					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13717424	13717424	+	Splice_Site	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr5:13717424C>A	ENST00000265104.4	-	73	12809	c.12705_splice	c.e73+1	p.K4235_splice		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4235					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.?(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCGGCAGTACCTTTTTGACAT	0.498000									Kartagener syndrome				13	19					6.31663e-08	8.35291e-08	1	1	0
WNT9B	7484	broad.mit.edu	37	17	44950100	44950100	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr17:44950100A>T	ENST00000393461.2	+	2	348	c.295A>T	c.(295-297)Aac>Tac	p.N99Y	WNT9B_ENST00000290015.2_Missense_Mutation_p.N99Y			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	99					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	p.N99Y(1)|p.N105Y(1)		large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TGAGCGCTGGAACTGTAGCCT	0.672000													4	24					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869776	151869776	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chrX:151869776G>T	ENST00000329342.5	+	3	691	c.466G>T	c.(466-468)Gat>Tat	p.D156Y		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	156	MAGE.						protein binding	p.D156Y(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CAAAGCTTCCGATTCCTTGCA	0.552000													61	9					1.27862e-28	2.37965e-28	1	1	0
NUFIP1	26747	broad.mit.edu	37	13	45523952	45523952	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr13:45523952G>T	ENST00000379161.4	-	8	1089	c.1043C>A	c.(1042-1044)cCa>cAa	p.P348Q		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	348					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding	p.P348Q(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		AGAATGTTGTGGTTTCTCCTC	0.448000													3	33					0.004672	0.00499506	1	1	0
RXFP4	339403	broad.mit.edu	37	1	155912009	155912009	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr1:155912009C>A	ENST00000368318.3	+	1	530	c.509C>A	c.(508-510)gCc>gAc	p.A170D		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	170						integral to membrane|plasma membrane	angiotensin type II receptor activity	p.A170D(1)		endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCGGCGGCTGCCCTGGTGACG	0.682000													22	76					3.28513e-13	4.85522e-13	1	1	0
FKBP9	11328	broad.mit.edu	37	7	33014319	33014319	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr7:33014319C>A	ENST00000242209.4	+	2	481	c.312C>A	c.(310-312)aaC>aaA	p.N104K	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.N157K	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	104	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.N104K(1)		central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TGTGCGTAAACGAGAGACGTT	0.468000													4	102					0.0293803	0.0301298	1	1	0
PCSK6	5046	broad.mit.edu	37	15	101865129	101865129	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr15:101865129C>T	ENST00000348070.1	-	18	2299	c.2300G>A	c.(2299-2301)cGc>cAc	p.R767H	PCSK6_ENST00000358417.3_Missense_Mutation_p.R754H|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	768	CRM (Cys-rich motif).				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	p.R767H(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GAACCCGCGGCGGCAAGACAG	0.567000													7	30					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61777734	61777734	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr8:61777734G>T	ENST00000423902.2	+	38	8715	c.8236G>T	c.(8236-8238)Gtg>Ttg	p.V2746L	CHD7_ENST00000524602.1_Missense_Mutation_p.V697L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2746					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.V2746L(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCCTTTGCTGGTGAACAGCCT	0.607000													4	6					0.000602214	0.000668757	1	1	0
C6orf89	221477	broad.mit.edu	37	6	36882185	36882185	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr6:36882185G>C	ENST00000480824.2	+	5	823	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	C6orf89_ENST00000373685.1_Missense_Mutation_p.E177Q|C6orf89_ENST00000355190.3_Missense_Mutation_p.E184Q|C6orf89_ENST00000359359.2_Missense_Mutation_p.E71Q|C6orf89_ENST00000510325.2_Missense_Mutation_p.E71Q			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	177						integral to membrane		p.E184Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						AAGGAAATTTGAGAGGCTCCA	0.527000													27	31					0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116955207	116955207	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr7:116955207C>T	ENST00000265441.3	-	3	805	c.506G>A	c.(505-507)cGc>cAc	p.R169H	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	169					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	p.R169H(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACAAATGCGCGGGCAAATTT	0.478000													31	69					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83525673	83525673	+	Splice_Site	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr5:83525673C>A	ENST00000296591.5	-	3	644	c.226_splice	c.e3+1	p.G76_splice	EDIL3_ENST00000380138.3_Intron	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	76	EGF-like 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	p.G76C(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GGAACTTTACCTGCTGAAGTT	0.378000													16	51					2.23348e-06	2.77117e-06	1	1	0
MCF2	4168	broad.mit.edu	37	X	138697092	138697092	+	Silent	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chrX:138697092G>T	ENST00000520602.1	-	13	1776	c.1491C>A	c.(1489-1491)ccC>ccA	p.P497P	MCF2_ENST00000370573.4_Silent_p.P437P|MCF2_ENST00000370576.4_Silent_p.P437P|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000536274.1_Silent_p.P398P|MCF2_ENST00000370578.4_Silent_p.P582P|MCF2_ENST00000519895.1_Silent_p.P497P|MCF2_ENST00000338585.6_Silent_p.P437P|MCF2_ENST00000414978.1_Silent_p.P497P			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	437	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	p.P437P(2)|p.P497P(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTTCAGGTGTGGGTACCACAA	0.383000													4	152					1	1	1	1	0
LHX3	8022	broad.mit.edu	37	9	139091689	139091689	+	Missense_Mutation	SNP	T	T	C	rs137854504		TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr9:139091689T>C	ENST00000371746.3	-	3	422	c.304A>G	c.(304-306)Atc>Gtc	p.I102V	LHX3_ENST00000371748.5_Missense_Mutation_p.I97V	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	97	LIM zinc-binding 2.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I102V(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GTGGGCGGGATGCCCAGCTGG	0.721000													7	3					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189927933	189927933	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr2:189927933C>A	ENST00000374866.3	-	27	2108	c.1834G>T	c.(1834-1836)Ggg>Tgg	p.G612W		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	612					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.G612W(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCCATGCTCCCGGGCTGCCCT	0.517000													58	69					2.01871e-26	3.68874e-26	1	1	0
GRIK2	2898	broad.mit.edu	37	6	102516291	102516291	+	Nonsense_Mutation	SNP	A	A	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr6:102516291A>T	ENST00000421544.1	+	16	3122	c.2632A>T	c.(2632-2634)Aag>Tag	p.K878*	GRIK2_ENST00000413795.1_3'UTR|GRIK2_ENST00000369134.4_Nonsense_Mutation_p.K829*|GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369137.3_Nonsense_Mutation_p.K802*	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	878					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.K878*(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GTTAAAACATAAGCCACAGGC	0.413000													27	16					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535445	90535445	+	RNA	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr9:90535445C>A	ENST00000602681.1	+	0	1349																											CTAGAACGCCCCTCACCCGAG	0.627000													53	102					4.88482e-21	8.25084e-21	1	1	0
TMOD3	29766	broad.mit.edu	37	15	52188673	52188673	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr15:52188673G>A	ENST00000308580.7	+	7	966	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Missense_Mutation_p.V229M	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	229						cytoplasm|cytoskeleton	actin binding|tropomyosin binding	p.V229M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		CAACACACATGTGAAATGTTT	0.383000													24	34					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803524	142803524	+	RNA	SNP	T	T	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr1:142803524T>A	ENST00000423385.1	-	0	1441																											TACCTTTTTCTTTAATAGATG	0.269000													7	114					0	0	1	0	0
LINC00957	255031	broad.mit.edu	37	7	44080552	44080552	+	RNA	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr7:44080552C>A	ENST00000441052.1	+	0	1237																											CCCCGCACCCCCCCGGAGTTA	0.617000													9	43					0.000274275	0.000307985	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3087578	3087578	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr8:3087578G>T	ENST00000602557.1	-	28	4887	c.4332C>A	c.(4330-4332)gaC>gaA	p.D1444E	CSMD1_ENST00000400186.3_Missense_Mutation_p.D1444E|CSMD1_ENST00000542608.1_Missense_Mutation_p.D1443E|CSMD1_ENST00000520002.1_Missense_Mutation_p.D1444E|CSMD1_ENST00000539096.1_Missense_Mutation_p.D1443E|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.D1443E|CSMD1_ENST00000602723.1_Missense_Mutation_p.D1444E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1444	Sushi 8.					integral to membrane		p.D1172E(1)|p.D1443E(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGTAGGAGGGTCTGGTTGCC	0.438000													6	43					3.59834e-05	4.22962e-05	1	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24874156	24874156	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr10:24874156G>A	ENST00000396432.2	-	26	5548	c.5062C>T	c.(5062-5064)Cgg>Tgg	p.R1688W		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1687	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	p.R1687W(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AGCTGTCTCCGGCTATCTAAA	0.428000													17	40					0	0	1	0	0
ACOT2	10965	broad.mit.edu	37	14	74036534	74036534	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr14:74036534G>C	ENST00000238651.5	+	1	772	c.590G>C	c.(589-591)cGg>cCg	p.R197P	ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	197					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding	p.R197P(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CCCGGGGTGCGGCGCGAGCCG	0.697000													13	7					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072791	34072791	+	Silent	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr17:34072791G>T	ENST00000254466.6	-	6	1752	c.1725C>A	c.(1723-1725)tcC>tcA	p.S575S	GAS2L2_ENST00000587565.1_Silent_p.S559S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	575					cell cycle arrest	cytoplasm|cytoskeleton		p.S575S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCAGGTCCCAGGACTCTCTGG	0.612000													22	79					5.45024e-15	8.49223e-15	1	1	0
MYH7	4625	broad.mit.edu	37	14	23894904	23894904	+	Splice_Site	SNP	C	C	G			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr14:23894904C>G	ENST00000355349.3	-	20	2448	c.2286_splice	c.e20+1	p.K762_splice		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	762	Actin-binding.|Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.K762N(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTTTCCTCACCTTGGTGTGGC	0.448000													34	60					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110454418	110454418	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr8:110454418A>T	ENST00000378402.5	+	35	4491	c.4387A>T	c.(4387-4389)Aca>Tca	p.T1463S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1463	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.T1465S(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACAAAAATCTACATCAGGTAT	0.328000										HNSCC(38;0.096)			34	7					0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6477727	6477727	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr11:6477727C>A	ENST00000525074.1	-	6	1623	c.1229G>T	c.(1228-1230)cGc>cTc	p.R410L	TRIM3_ENST00000537602.1_Missense_Mutation_p.R332L|TRIM3_ENST00000536344.1_Missense_Mutation_p.R291L|TRIM3_ENST00000359518.3_Missense_Mutation_p.R410L|TRIM3_ENST00000345851.3_Missense_Mutation_p.R410L|TRIM3_ENST00000529058.1_Intron	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	410					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	p.R410L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGGCTGCCGCGCACTGGCTG	0.677000													14	5					4.93089e-13	7.23437e-13	1	1	0
RTN4IP1	84816	broad.mit.edu	37	6	107019974	107019974	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr6:107019974C>A	ENST00000369063.3	-	9	1553	c.1088G>T	c.(1087-1089)cGg>cTg	p.R363L	RTN4IP1_ENST00000539449.1_3'UTR|RTN4IP1_ENST00000498091.1_5'UTR	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	363						mitochondrion	oxidoreductase activity|zinc ion binding	p.R363L(1)		breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		AATAACTGGCCGGATCTGTAA	0.418000													40	13					1.57019e-19	2.56593e-19	1	1	0
LY9	4063	broad.mit.edu	37	1	160771628	160771628	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr1:160771628G>A	ENST00000368039.2	+	3	504	c.503G>A	c.(502-504)cGc>cAc	p.R168H	LY9_ENST00000471816.1_Intron|LY9_ENST00000368040.1_Intron|LY9_ENST00000263285.5_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000368041.2_Intron	NM_001033667.2	NP_001028839.1	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	0	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane		p.R168H(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGTGACCACCGCACACTCCTG	0.572000													103	112					0	0	1	0	0
NEMF	9147	broad.mit.edu	37	14	50272777	50272777	+	Silent	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr14:50272777G>T	ENST00000298310.5	-	19	2268	c.1819C>A	c.(1819-1821)Cga>Aga	p.R607R	NEMF_ENST00000545773.1_Silent_p.R565R|NEMF_ENST00000546046.1_Silent_p.R586R|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	607						cytoplasm|nucleus		p.R607R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GTGATAACTCGTGCATCCCAA	0.448000													24	20					9.90768e-06	1.20694e-05	1	1	0
KIF1A	547	broad.mit.edu	37	2	241727615	241727615	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr2:241727615C>A	ENST00000498729.2	-	4	462	c.216G>T	c.(214-216)caG>caT	p.Q72H	KIF1A_ENST00000320389.7_Missense_Mutation_p.Q72H	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	72	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.Q72H(1)		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)		CCCGGTACACCTGCTTCTGCG	0.587000													6	7					0.0215528	0.0224461	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26165124	26165124	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr22:26165124A>T	ENST00000335473.7	+	4	1491	c.1241A>T	c.(1240-1242)aAg>aTg	p.K414M	MYO18B_ENST00000407587.2_Missense_Mutation_p.K414M|MYO18B_ENST00000536101.1_Missense_Mutation_p.K414M	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	414						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.K414M(1)		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						CAGACAGAGAAGGGCTGTGAA	0.607000													4	4					0	0	1	0	0
C16orf71	146562	broad.mit.edu	37	16	4790576	4790576	+	Silent	SNP	G	G	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr16:4790576G>A	ENST00000299320.5	+	4	1177	c.699G>A	c.(697-699)gcG>gcA	p.A233A	C16orf71_ENST00000590191.1_Silent_p.A247A|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	233								p.A233A(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						TGAAGGAGGCGCCCTGCCACG	0.637000													10	16					0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43159892	43159892	+	RNA	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr8:43159892C>A	ENST00000522175.2	+	0	748							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.S295Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCAAACAACTCTTCTGGAAAT	0.338000													40	35					1.15183e-24	2.06713e-24	1	1	0
FAT3	120114	broad.mit.edu	37	11	92534753	92534753	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr11:92534753G>T	ENST00000298047.6	+	9	8591	c.8574G>T	c.(8572-8574)caG>caT	p.Q2858H	FAT3_ENST00000525166.1_Missense_Mutation_p.Q2708H|FAT3_ENST00000409404.2_Missense_Mutation_p.Q2858H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2858	Cadherin 26.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.Q2858H(2)		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)				CGGATTCCCAGCCCGAAAAGG	0.498000										TCGA Ovarian(4;0.039)			4	2					0.00909568	0.00957189	1	1	0
FAF2	23197	broad.mit.edu	37	5	175923528	175923528	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr5:175923528A>G	ENST00000261942.6	+	8	756	c.703A>G	c.(703-705)Atg>Gtg	p.M235V		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	235					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	p.M235V(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						ATTCCTGGCCATGATTATGCT	0.463000													27	35					0	0	1	0	0
DDX1	1653	broad.mit.edu	37	2	15742716	15742716	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr2:15742716G>T	ENST00000381341.2	+	8	741	c.352G>T	c.(352-354)Gaa>Taa	p.E118*	DDX1_ENST00000233084.3_Nonsense_Mutation_p.E118*			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	118	B30.2/SPRY.|Helicase ATP-binding.|Necessary for interaction with HNRNPK.|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	p.E118*(1)|p.E118K(1)		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)		AGAAGTAAAGGAATGGCATGG	0.373000													21	41					6.36457e-07	8.14828e-07	1	1	0
TRDV1	28518	broad.mit.edu	37	14	22564609	22564609	+	RNA	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr14:22564609G>T	ENST00000390452.2	+	0	78																											GATCAAGTGTGGCCCAGAAGG	0.418000													80	125					3.77845e-26	6.84205e-26	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158605807	158605807	+	Silent	SNP	T	T	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr1:158605807T>A	ENST00000368148.3	-	38	5508	c.5328A>T	c.(5326-5328)gcA>gcT	p.A1776A	SPTA1_ENST00000368147.3_Silent_p.A1776A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1776					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.A1776A(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCAGCTTCTCTGCCATATCCA	0.507000													88	126					0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96107067	96107067	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr12:96107067T>C	ENST00000343702.4	-	4	1362	c.914A>G	c.(913-915)cAg>cGg	p.Q305R	NTN4_ENST00000344911.4_Missense_Mutation_p.Q268R|NTN4_ENST00000553059.1_Missense_Mutation_p.Q305R|NTN4_ENST00000538383.1_Missense_Mutation_p.Q268R	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	305	Laminin EGF-like 1.				axon guidance	basement membrane|plasma membrane		p.Q305R(1)		NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GGCACAGTGCTGGCAGTGGCT	0.522000													11	38					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466759	56466759	+	Silent	SNP	G	G	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr19:56466759G>A	ENST00000291971.3	+	3	1406	c.1335G>A	c.(1333-1335)aaG>aaA	p.K445K	NLRP8_ENST00000590542.1_Silent_p.K445K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	445	NACHT.					cytoplasm	ATP binding	p.K445K(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTTCCAGAAAGATCCACCAAG	0.483000													25	33					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49419995	49419995	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr12:49419995C>A	ENST00000301067.7	-	48	15753	c.15754G>T	c.(15754-15756)Gac>Tac	p.D5252Y		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.D4982Y(1)|p.D5252Y(1)									AAGACCAGGTCCTCCAGGCCC	0.537000													10	58					2.17888e-05	2.59145e-05	1	1	0
TMEM2	23670	broad.mit.edu	37	9	74340552	74340552	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr9:74340552G>T	ENST00000377044.4	-	11	2662	c.2123C>A	c.(2122-2124)cCa>cAa	p.P708Q	TMEM2_ENST00000377066.5_Missense_Mutation_p.P645Q	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	708						integral to membrane		p.P708Q(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGTGAGTTCTGGTTTTGCCAA	0.378000													24	47					7.87624e-14	1.19032e-13	1	1	0
OR8J3	81168	broad.mit.edu	37	11	55904448	55904448	+	Silent	SNP	C	C	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr11:55904448C>A	ENST00000301529.1	-	1	746	c.747G>T	c.(745-747)acG>acT	p.T249T		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T249T(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CATAGAAAACCGTGACTGCTA	0.398000													29	21					3.65163e-15	5.7342e-15	1	1	0
RP11-435B5.5	0	broad.mit.edu	37	1	143391923	143391924	+	RNA	DEL	AT	AT	-			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr1:143391923_143391924delAT	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							TATTTTGGAGATATATATATAT	0.262													2	4	---	---	---	---					
RBPJ	3516	broad.mit.edu	37	4	26417145	26417146	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr4:26417145_26417146insA	ENST00000342320.4	+	4	377_378	c.201_202insA	c.(199-204)aaaaaafs	p.KK67fs	RBPJ_ENST00000348160.4_Frame_Shift_Ins_p.KK68fs|RBPJ_ENST00000504907.1_Frame_Shift_Ins_p.KK67fs|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000342295.1_Frame_Shift_Ins_p.KK81fs|RBPJ_ENST00000355476.3_Frame_Shift_Ins_p.KK67fs|RBPJ_ENST00000361572.6_Frame_Shift_Ins_p.KK81fs|RBPJ_ENST00000345843.3_Frame_Shift_Ins_p.KK66fs|RBPJ_ENST00000507561.1_Frame_Shift_Ins_p.KK46fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	81					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GTGGATGGAAGAAAAAAAAAGA	0.371													7	289	---	---	---	---					
TRAPPC11	60684	broad.mit.edu	37	4	184605873	184605874	+	Frame_Shift_Ins	INS	-	-	TATC			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr4:184605873_184605874insTATC	ENST00000334690.6	+	15	1648_1649	c.1446_1447insTATC	c.(1444-1449)gaatcgfs	p.ES482fs	TRAPPC11_ENST00000512476.1_Frame_Shift_Ins_p.ES88fs|TRAPPC11_ENST00000357207.4_Frame_Shift_Ins_p.ES482fs	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	482																	TGATGTGTGATTATCGGAGTGA	0.406													15	100	---	---	---	---					
SCUBE2	57758	broad.mit.edu	37	11	9096031	9096031	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr11:9096031delC	ENST00000457346.2	-	4	588	c.514delG	c.(514-516)aafs	p.E173fs	SCUBE2_ENST00000450649.2_Frame_Shift_Del_p.E173fs|SCUBE2_ENST00000309263.3_Frame_Shift_Del_p.E173fs|SCUBE2_ENST00000520467.1_Frame_Shift_Del_p.E173fs			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	173						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GAGGTACCTTCCGAGCGGTGA	0.582													7	91	---	---	---	---					
KCNK10	54207	broad.mit.edu	37	14	88652098	88652098	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr14:88652098delG	ENST00000340700.5	-	7	1849	c.1398delC	c.(1396-1398)ccfs	p.P466fs	KCNK10_ENST00000312350.5_Frame_Shift_Del_p.P471fs|KCNK10_ENST00000319231.5_Frame_Shift_Del_p.P471fs	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	466					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GAACGTCCTCGGGCAAGGTCT	0.502													67	121	---	---	---	---					
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327													7	27	---	---	---	---					
PITPNM3	83394	broad.mit.edu	37	17	6358848	6358848	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr17:6358848delG	ENST00000262483.8	-	20	2822	c.2735delC	c.(2734-2736)ggfs	p.A912fs	ACKR6_ENST00000576664.1_5'UTR|ACKR6_ENST00000421306.3_Frame_Shift_Del_p.A876fs	NM_031220.3	NP_112497.2																					CTCTGGCTGCGCGTGCAGCCC	0.692													13	23	---	---	---	---					
STK11	6794	broad.mit.edu	37	19	1221313	1221314	+	Frame_Shift_Ins	INS	-	-	C	rs67873004		TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr19:1221313_1221314insC	ENST00000326873.7	+	6	2009_2010	c.836_837insC	c.(835-837)gccfs	p.A279fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	279	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.P281fs*6(2)|p.?(2)|p.G279F(1)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGACTGTGGCCCCCCGCTCT	0.604		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			6	5	---	---	---	---					
CACNA1A	773	broad.mit.edu	37	19	13418663	13418663	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr19:13418663delT	ENST00000360228.5	-	15	1918	c.1919delA	c.(1918-1920)atfs	p.N640fs	CACNA1A_ENST00000573710.2_Frame_Shift_Del_p.N641fs	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	641					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTCATCGAAATTAAACCTGCA	0.547													55	14	---	---	---	---					
ZNF671	79891	broad.mit.edu	37	19	58232780	58232780	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr19:58232780delC	ENST00000317398.6	-	4	769	c.674delG	c.(673-675)gcfs	p.G225fs	ZNF671_ENST00000335820.3_Frame_Shift_Del_p.G127fs|AC003006.7_ENST00000599221.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGAGTCTCTGCCCTCCTTCCT	0.507													9	74	---	---	---	---					
DEFB115	245929	broad.mit.edu	37	20	29847303	29847304	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-5774-01A-01D-1625-08	TCGA-64-5774-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df5957d5-20d3-483e-990b-d6369fb990b8	4fb568ce-a4be-46c5-862b-5c681936f30b	g.chr20:29847303_29847304insA	ENST00000400552.1	+	2	135_136	c.135_136insA	c.(133-138)tgggaafs	p.WE45fs		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	45					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			CTGGCAGATGCAGGAAATCATG	0.317													21	30	---	---	---	---					
