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
LPHN3	23284	broad.mit.edu	37	4	62862036	62862036	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:62862036C>T	ENST00000512091.1	+	19	3807	c.3060C>T	c.(3058-3060)ttC>ttT	p.F1020F	LPHN3_ENST00000506720.1_Silent_p.F1088F|LPHN3_ENST00000508946.1_Silent_p.F1020F|LPHN3_ENST00000504896.1_Silent_p.F1020F|LPHN3_ENST00000514157.1_Silent_p.F1020F|LPHN3_ENST00000509896.1_Silent_p.F1088F|LPHN3_ENST00000514996.1_Silent_p.F1020F|LPHN3_ENST00000506700.1_Silent_p.F1020F|LPHN3_ENST00000506746.1_Silent_p.F1088F|LPHN3_ENST00000508693.1_Silent_p.F1088F|LPHN3_ENST00000514591.1_Silent_p.F1020F|LPHN3_ENST00000507625.1_Silent_p.F1088F|LPHN3_ENST00000545650.1_Silent_p.F1020F|LPHN3_ENST00000507164.1_Silent_p.F1088F|LPHN3_ENST00000511324.1_Silent_p.F1088F			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1007					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.F1020F(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACACCTACTTCATTTGGAGTT	0.393000													16	129					0	0	0.004990	0	0
TMC5	79838	broad.mit.edu	37	16	19475097	19475097	+	Splice_Site	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:19475097G>T	ENST00000396229.2	+	8	1985		c.e8-1		TMC5_ENST00000564959.1_Splice_Site|TMC5_ENST00000219821.5_Splice_Site|TMC5_ENST00000381414.4_Splice_Site|TMC5_ENST00000541464.1_Splice_Site|TMC5_ENST00000561503.1_Splice_Site|TMC5_ENST00000542583.2_Splice_Site	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5							integral to membrane		p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCTGATTCCAGGCTTATCGGA	0.478000													10	95					3.07112e-06	4.10955e-06	0.000978	1	0
TEX11	56159	broad.mit.edu	37	X	69828958	69828958	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:69828958T>G	ENST00000395889.2	-	23	2062	c.1907A>C	c.(1906-1908)cAg>cCg	p.Q636P	TEX11_ENST00000374320.2_Missense_Mutation_p.Q311P|TEX11_ENST00000344304.3_Missense_Mutation_p.Q636P|TEX11_ENST00000374333.2_Missense_Mutation_p.Q621P	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	636							protein binding	p.Q621P(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCGAAACCACTGAGCTTCATT	0.403000													7	14					0	0	0.004482	0	0
OR51L1	119682	broad.mit.edu	37	11	5021145	5021145	+	Silent	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:5021145A>G	ENST00000321543.1	+	1	933	c.933A>G	c.(931-933)ctA>ctG	p.L311L		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L311L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTTTGTCCTAAGGAGGAGGT	0.408000													12	52					0	0	0.000978	0	0
KIAA1551	55196	broad.mit.edu	37	12	32135455	32135455	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:32135455G>A	ENST00000312561.4	+	4	1980	c.1566G>A	c.(1564-1566)gtG>gtA	p.V522V	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551									p.V522V(1)									CTCATGATGTGAAAGTTCTCA	0.393000													3	54					0	0	0.004672	0	0
F2	2147	broad.mit.edu	37	11	46740807	46740807	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:46740807C>A	ENST00000311907.5	+	1	78	c.22C>A	c.(22-24)Cag>Aag	p.Q8K	F2_ENST00000530231.1_Missense_Mutation_p.Q8K	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	8					activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	p.Q8K(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	CCGAGGCTTGCAGCTGCCTGG	0.582000													3	22					1.024e-07	1.44565e-07	0.000602	1	0
SEC31B	25956	broad.mit.edu	37	10	102249088	102249088	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:102249088T>A	ENST00000370345.3	-	23	3189	c.3092A>T	c.(3091-3093)cAa>cTa	p.Q1031L		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1031	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		p.Q1031L(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AAGAATCCCTTGTAGCTCAGG	0.522000													5	28					0	0	0.000602	0	0
ITGA2	3673	broad.mit.edu	37	5	52377468	52377468	+	Missense_Mutation	SNP	G	G	T	rs139705254		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:52377468G>T	ENST00000296585.5	+	26	3229	c.3086G>T	c.(3085-3087)gGa>gTa	p.G1029V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1029					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	p.G1029V(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CTGAAAATAGGACAAACATCT	0.373000													8	28					5.68852e-11	9.02401e-11	0.004482	1	0
NCOA1	8648	broad.mit.edu	37	2	24929509	24929509	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:24929509C>T	ENST00000405141.1	+	14	1881	c.1170C>T	c.(1168-1170)gtC>gtT	p.V390V	NCOA1_ENST00000395856.3_Silent_p.V390V|NCOA1_ENST00000538539.1_Silent_p.V390V|NCOA1_ENST00000348332.3_Silent_p.V390V|NCOA1_ENST00000407230.1_Silent_p.V239V|NCOA1_ENST00000406961.1_Silent_p.V390V|NCOA1_ENST00000288599.5_Silent_p.V390V			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	390	Interaction with STAT3.|Ser-rich.							p.V390V(2)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCCTCGGTCAATCCTAGTA	0.473000			T	PAX3	alveolar rhadomyosarcoma								4	38					0	0	0.001168	0	0
ADGRG6	57211	broad.mit.edu	37	6	142736158	142736158	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:142736158C>G	ENST00000230173.6	+	19	3070	c.2594C>G	c.(2593-2595)aCt>aGt	p.T865S	GPR126_ENST00000367609.3_Missense_Mutation_p.T865S|GPR126_ENST00000367608.2_Missense_Mutation_p.T837S|GPR126_ENST00000296932.8_Missense_Mutation_p.T837S	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	865					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T865S(1)|p.T836S(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AAAGTCCTCACTTTCATCAGC	0.388000													11	54					0	0	0.008291	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142379068	142379068	+	RNA	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:142379068C>G	ENST00000390398.3	+	0	373																											TCTGTGCCAGCAGTGAATACA	0.502000													8	40					0	0	0.003080	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134054	91134054	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:91134054T>C	ENST00000373094.1	+	2	3660	c.2815T>C	c.(2815-2817)Tac>Cac	p.Y939H	PCDH11X_ENST00000361724.1_Missense_Mutation_p.Y939H|PCDH11X_ENST00000504220.1_Missense_Mutation_p.Y939H|PCDH11X_ENST00000395337.2_Missense_Mutation_p.Y939H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.Y939H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.Y939H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Y939H|PCDH11X_ENST00000361655.2_Missense_Mutation_p.Y939H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Y939H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	939					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.Y939H(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GGCCCGACACTACAAATCTGC	0.473000													49	47					0	0	0.003610	0	0
CD1E	913	broad.mit.edu	37	1	158325207	158325207	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:158325207C>A	ENST00000444681.2	+	2	469	c.176C>A	c.(175-177)tCt>tAt	p.S59Y	CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.S156Y|CD1E_ENST00000368160.3_Missense_Mutation_p.S158Y|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.S158Y|CD1E_ENST00000368161.3_Missense_Mutation_p.S158Y|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.S158Y	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	158					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.S158Y(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGGGAGCCATCTCCAGGAGCA	0.458000													37	120					1.66425e-11	2.7035e-11	0.004878	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	42					0	0	0.004672	0	0
PXDNL	137902	broad.mit.edu	37	8	52366151	52366151	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:52366151G>A	ENST00000356297.4	-	10	1277	c.1177C>T	c.(1177-1179)Cat>Tat	p.H393Y	PXDNL_ENST00000543296.1_Missense_Mutation_p.H393Y	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	393	Ig-like C2-type 2.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.H393Y(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AATCGACCATGATCCCGTTGT	0.473000													11	59					0	0	0.000978	0	0
ADAM28	10863	broad.mit.edu	37	8	24168942	24168942	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:24168942G>C	ENST00000265769.4	+	5	485	c.375G>C	c.(373-375)agG>agC	p.R125S	ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.R125S|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	125					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.R125S(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCACATGTAGGGGTCTAAGGT	0.348000													5	37					0	0	0.001168	0	0
RYR2	6262	broad.mit.edu	37	1	237817625	237817625	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:237817625G>T	ENST00000366574.2	+	52	8193	c.7876G>T	c.(7876-7878)Ggg>Tgg	p.G2626W	RYR2_ENST00000542537.1_Missense_Mutation_p.G2610W|RYR2_ENST00000360064.6_Missense_Mutation_p.G2624W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2626	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G2624W(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTGCCTGGAGGGTGGGGAAA	0.383000													12	66					4.36969e-10	6.74492e-10	0.001855	1	0
LRP2	4036	broad.mit.edu	37	2	170097559	170097559	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:170097559C>A	ENST00000263816.3	-	25	4269	c.3984G>T	c.(3982-3984)ctG>ctT	p.L1328L	LRP2_ENST00000443831.1_Silent_p.L1191L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1328	LDL-receptor class A 15.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.L1328L(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACACTACACTCAGATTCACAC	0.493000													8	61					0.000157383	0.000191329	0.003080	1	0
TKTL2	84076	broad.mit.edu	37	4	164394505	164394505	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:164394505G>C	ENST00000280605.3	-	1	542	c.382C>G	c.(382-384)Cag>Gag	p.Q128E		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	128						cytoplasm	metal ion binding|transketolase activity	p.Q128E(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCTAATCCCTGACCTAGGGAC	0.527000													9	53					0	0	0.004482	0	0
GDF15	9518	broad.mit.edu	37	19	18499157	18499157	+	Silent	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:18499157G>C	ENST00000595973.1	+	3	890	c.339G>C	c.(337-339)ggG>ggC	p.G113G	GDF15_ENST00000252809.3_Silent_p.G113G			Q99988	GDF15_HUMAN	growth differentiation factor 15	113					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.G113G(1)		kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						TTCCCGAGGGGCTCCCCGAGG	0.701000											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	21					0	0	0.004672	0	0
XPO5	57510	broad.mit.edu	37	6	43498531	43498531	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:43498531T>A	ENST00000265351.7	-	23	2782	c.2572A>T	c.(2572-2574)Atg>Ttg	p.M858L		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	858					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	p.M858L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TCTTGCTGCATGGAAGGGCCT	0.463000													10	44					0	0	0.006214	0	0
RP1L1	94137	broad.mit.edu	37	8	10465553	10465553	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:10465553C>A	ENST00000382483.3	-	4	6278	c.6055G>T	c.(6055-6057)Gag>Tag	p.E2019*		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2019					intracellular signal transduction			p.E2019*(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCGTCTGACTCTGGCTGGGCC	0.612000													26	151					3.28513e-13	5.46786e-13	0.003954	1	0
MIR3654	100500804	broad.mit.edu	37	11	62358944	62358944	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:62358944T>C	ENST00000496634.2	-	1	59	c.14A>G	c.(13-15)gAt>gGt	p.D5G	TUT1_ENST00000308436.7_Missense_Mutation_p.D43G|TUT1_ENST00000476907.1_Missense_Mutation_p.D5G														p.D43G(1)|p.D5G(1)		NS(1)	1						GACATCCGAATCCACCGCCGC	0.622000													7	34					0	0	0.003080	0	0
TBX5	6910	broad.mit.edu	37	12	114803965	114803965	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:114803965C>A	ENST00000526441.1	-	7	986	c.987G>T	c.(985-987)gaG>gaT	p.E329D	TBX5_ENST00000405440.2_Intron|TBX5_ENST00000310346.4_Intron|TBX5_ENST00000349716.5_Intron			Q99593	TBX5_HUMAN	T-box 5	329					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.E329D(1)|p.?(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGTGATCACACTCACCTTTCC	0.488000													11	29					3.86212e-05	4.87847e-05	0.008291	1	0
LPHN3	23284	broad.mit.edu	37	4	62894601	62894601	+	Splice_Site	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:62894601T>A	ENST00000512091.1	+	21	3965		c.e21+2		LPHN3_ENST00000506720.1_Splice_Site|LPHN3_ENST00000508946.1_Splice_Site|LPHN3_ENST00000504896.1_Splice_Site|LPHN3_ENST00000514157.1_Intron|LPHN3_ENST00000509896.1_Splice_Site|LPHN3_ENST00000514996.1_Intron|LPHN3_ENST00000506700.1_Intron|LPHN3_ENST00000506746.1_Intron|LPHN3_ENST00000508693.1_Splice_Site|LPHN3_ENST00000514591.1_Splice_Site|LPHN3_ENST00000507625.1_Intron|LPHN3_ENST00000545650.1_Splice_Site|LPHN3_ENST00000507164.1_Intron|LPHN3_ENST00000511324.1_Intron			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.?(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTTCATCAAGTAAGAATGACC	0.358000													3	17					0	0	0.004672	0	0
TCEAL6	158931	broad.mit.edu	37	X	101395808	101395808	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:101395808G>T	ENST00000372774.3	-	3	745	c.496C>A	c.(496-498)Caa>Aaa	p.Q166K	TCEAL6_ENST00000372773.1_Missense_Mutation_p.Q166K	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q166K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						ACATCTCTTTGCATCCAATGA	0.512000													12	40					4.14922e-12	6.84483e-12	0.004007	1	0
EXOC8	149371	broad.mit.edu	37	1	231472329	231472329	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:231472329C>T	ENST00000366645.1	-	1	1269	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	EXOC8_ENST00000360394.2_Missense_Mutation_p.R388Q			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	388					exocytosis|protein transport	growth cone|nucleus	protein binding	p.R388Q(1)		cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				AGTGAGCTGTCGAACTCGCTC	0.532000													6	54					0	0	0.001168	0	0
ZNF90	7643	broad.mit.edu	37	19	20215049	20215049	+	Splice_Site	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:20215049G>C	ENST00000418063.2	+	2	117	c.3_splice	c.e2-1	p.G2_splice	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	2						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G2A(2)		breast(1)|lung(2)|ovary(1)|skin(1)	5						GTTTTTCAGGGACCATTGGAA	0.403000													7	72					0	0	0.001984	0	0
GALNT13	114805	broad.mit.edu	37	2	155158101	155158101	+	Splice_Site	SNP	A	A	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:155158101A>C	ENST00000392825.3	+	9	1722	c.1156_splice	c.e9+1	p.P385_splice	GALNT13_ENST00000409237.1_Splice_Site_p.P385_splice|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	385						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.P385P(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TCATATCCCCAGGTACACAAT	0.343000													9	109					0	0	0.008291	0	0
COL12A1	1303	broad.mit.edu	37	6	75839938	75839938	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:75839938C>A	ENST00000322507.8	-	37	6388	c.6079G>T	c.(6079-6081)Gga>Tga	p.G2027*	COL12A1_ENST00000483888.2_Nonsense_Mutation_p.G2027*|COL12A1_ENST00000345356.6_Nonsense_Mutation_p.G863*|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.G2027*	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2027	Fibronectin type-III 16.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.G2027*(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCCTTGGTCCACTGCGTGGT	0.443000													15	39					6.72482e-11	1.06453e-10	0.003163	1	0
COL5A1	1289	broad.mit.edu	37	9	137630626	137630626	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:137630626C>A	ENST00000371817.3	+	11	1880	c.1466C>A	c.(1465-1467)aCt>aAt	p.T489N		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	489	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.T489N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ATGGGTCCCACTGGCCAAGTC	0.557000													13	55					2.61681e-11	4.20499e-11	0.002450	1	0
ABCB11	8647	broad.mit.edu	37	2	169780148	169780148	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:169780148C>G	ENST00000263817.6	-	28	4074	c.3950G>C	c.(3949-3951)gGa>gCa	p.G1317A		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1317					bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	p.G1317A(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GATGGGGGATCCAGTGGTGAC	0.473000													5	34					0	0	0.000602	0	0
LRP5	4041	broad.mit.edu	37	11	68183797	68183797	+	Splice_Site	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:68183797G>A	ENST00000294304.7	+	13	2935	c.2827_splice	c.e13-1	p.P943_splice		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	943					adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	p.P943P(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTCCTCTAGCGCCCACCACCT	0.602000													32	27					0	0	0.005524	0	0
TMED6	146456	broad.mit.edu	37	16	69377433	69377433	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:69377433G>A	ENST00000288025.3	-	4	655	c.600C>T	c.(598-600)taC>taT	p.Y200Y	RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	200					transport	endoplasmic reticulum membrane|integral to membrane		p.Y200Y(1)		breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						ACCAGTTCACGTAGTTATAGT	0.418000													22	98					0	0	0.003330	0	0
CHRM2	1129	broad.mit.edu	37	7	136700873	136700873	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:136700873G>T	ENST00000445907.2	+	3	1789	c.1261G>T	c.(1261-1263)Gtg>Ttg	p.V421L	CHRM2_ENST00000397608.3_Missense_Mutation_p.V421L|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.V421L|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.V421L|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.V421L|CHRM2_ENST00000453373.1_Missense_Mutation_p.V421L|AC009264.1_ENST00000593789.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	421					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.V421L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CCCCAACACTGTGTGGACAAT	0.453000													40	133					7.66079e-34	1.42491e-33	0.002522	1	0
ERN2	10595	broad.mit.edu	37	16	23718184	23718184	+	Splice_Site	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:23718184T>A	ENST00000256797.4	-	6	692		c.e6-2		ERN2_ENST00000457008.2_Splice_Site	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2						apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	p.?(1)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCTTCCGGCCTGTGGAGGTGG	0.587000													6	23					0	0	0.001168	0	0
DPYSL4	10570	broad.mit.edu	37	10	134013942	134013942	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:134013942C>A	ENST00000338492.4	+	9	1058	c.894C>A	c.(892-894)gcC>gcA	p.A298A	DPYSL4_ENST00000368627.1_Silent_p.A198A|DPYSL4_ENST00000368629.1_Silent_p.A198A	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	298					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.A298A(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGGCCAAGGCCGCAGCCTTCG	0.652000													18	28					5.03518e-11	8.05629e-11	0.007413	1	0
OR4N5	390437	broad.mit.edu	37	14	20612048	20612048	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:20612048G>T	ENST00000333629.1	+	1	154	c.154G>T	c.(154-156)Gac>Tac	p.D52Y		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D52Y(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CATAAAGTCAGACCCTGGGCT	0.463000													44	256					2.64894e-19	4.71486e-19	0.003610	1	0
PCDHB5	26167	broad.mit.edu	37	5	140515852	140515852	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:140515852A>G	ENST00000231134.5	+	1	1053	c.836A>G	c.(835-837)tAt>tGt	p.Y279C		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		279	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.Y279C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTGTAGCCTATGCTCTATTC	0.468000													49	146					0	0	0.003610	0	0
TMEM18	129787	broad.mit.edu	37	2	675509	675509	+	Splice_Site	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:675509C>A	ENST00000281017.3	-	2	272		c.e2+1		TMEM18_ENST00000355654.2_Splice_Site|TMEM18_ENST00000405941.3_Splice_Site	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18						cell migration	integral to membrane|nuclear membrane		p.?(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		GTTTTACTCACCTAGACACAG	0.468000													12	59					2.61681e-11	4.20499e-11	0.002450	1	0
IL17RE	132014	broad.mit.edu	37	3	9952837	9952837	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:9952837G>A	ENST00000454190.2	+	10	1090	c.1005G>A	c.(1003-1005)ctG>ctA	p.L335L	IL17RE_ENST00000295980.3_Silent_p.L335L|IL17RE_ENST00000383814.3_Silent_p.L335L|IL17RE_ENST00000421412.1_Silent_p.L368L	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	335						cytoplasm|extracellular region|integral to membrane	receptor activity	p.H336Y(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)		AGGTGGACCTGCACCCCCAGC	0.537000													16	141					0	0	0.008871	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117787940	117787940	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:117787940C>A	ENST00000526090.1	-	3	652	c.501G>T	c.(499-501)ccG>ccT	p.P167P	TMPRSS13_ENST00000524993.1_Silent_p.P167P|TMPRSS13_ENST00000528626.1_Intron|TMPRSS13_ENST00000430170.2_Silent_p.P167P|TMPRSS13_ENST00000445164.2_Silent_p.P167P	NM_001206790.1	NP_001193719.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	162					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.P167P(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		ACCCGATGAGCGGTAGCTGCT	0.627000													12	16					0.00185496	0.0021167	0.001855	1	0
PCDHA11	56138	broad.mit.edu	37	5	140250613	140250613	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:140250613C>G	ENST00000398640.2	+	1	1925	c.1925C>G	c.(1924-1926)cCg>cGg	p.P642R	PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1												p.P642R(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGACTCGCCGCGCCACCGA	0.687000													13	29					0	0	0.003163	0	0
SLC22A16	85413	broad.mit.edu	37	6	110746219	110746219	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:110746219G>T	ENST00000368919.3	-	8	1657	c.1591C>A	c.(1591-1593)Cgg>Agg	p.R531R	SLC22A16_ENST00000330550.4_Silent_p.R497R	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	531					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.R531R(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GTTGCTAGCCGTTTCCCAAGG	0.418000													19	74					0.000132079	0.000162424	0.008871	1	0
RXFP3	51289	broad.mit.edu	37	5	33937275	33937275	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:33937275C>G	ENST00000330120.3	+	1	785	c.430C>G	c.(430-432)Ctt>Gtt	p.L144V		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	144						integral to plasma membrane	N-formyl peptide receptor activity	p.L144V(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GGAGAACGCTCTTGACTTCAA	0.562000													3	105					0	0	0.009096	0	0
SLC6A2	6530	broad.mit.edu	37	16	55730144	55730144	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:55730144C>A	ENST00000379906.2	+	8	1410	c.1155C>A	c.(1153-1155)ggC>ggA	p.G385G	SLC6A2_ENST00000566163.1_Silent_p.G340G|SLC6A2_ENST00000561820.1_Silent_p.G385G|SLC6A2_ENST00000414754.3_Silent_p.G385G|SLC6A2_ENST00000568943.1_Silent_p.G385G|SLC6A2_ENST00000219833.8_Silent_p.G385G|SLC6A2_ENST00000567238.1_Silent_p.G280G	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	385					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	p.G385G(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CAGGAGCTGGCCTAGTGTTCA	0.512000													13	89					7.03913e-09	1.03296e-08	0.001368	1	0
UHRF1BP1	54887	broad.mit.edu	37	6	34835154	34835154	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:34835154C>T	ENST00000192788.5	+	16	3736	c.3565C>T	c.(3565-3567)Ccg>Tcg	p.P1189S	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.P1189S	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1189								p.P1189S(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CATCTTTCACCCGGTCAGCAG	0.502000													16	114					0	0	0.003163	0	0
LRP1B	53353	broad.mit.edu	37	2	141083415	141083415	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:141083415A>G	ENST00000389484.3	-	80	13227	c.12256T>C	c.(12256-12258)Tat>Cat	p.Y4086H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4086					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.Y4086H(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCAGCCCAATATATGCGTTCA	0.378000										TSP Lung(27;0.18)			7	42					0	0	0.001984	0	0
OR5J2	282775	broad.mit.edu	37	11	55944722	55944722	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:55944722C>G	ENST00000312298.1	+	1	629	c.629C>G	c.(628-630)aCc>aGc	p.T210S		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T210S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GCCATGGCCACCTTCTTGACT	0.473000													11	68					0	0	0.000978	0	0
DDHD2	23259	broad.mit.edu	37	8	38110569	38110569	+	Silent	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:38110569A>G	ENST00000397166.2	+	15	2340	c.1815A>G	c.(1813-1815)ccA>ccG	p.P605P	DDHD2_ENST00000520272.2_Silent_p.P605P|DDHD2_ENST00000529845.1_Silent_p.P56P|DDHD2_ENST00000517385.1_Silent_p.P224P	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	605	DDHD.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	p.P605P(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			CCAGAGCTCCATACCCTGCCT	0.473000													6	32					0	0	0.001168	0	0
RIMBP2	23504	broad.mit.edu	37	12	130963548	130963548	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:130963548G>T	ENST00000261655.4	-	3	174	c.11C>A	c.(10-12)gCg>gAg	p.A4E	RIMBP2_ENST00000536002.1_5'UTR|RIMBP2_ENST00000535703.1_5'UTR	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	4						cell junction|synapse		p.A4E(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCGTTCAGCCGCCTCTCGCAT	0.617000													9	25					3.86212e-05	4.87847e-05	0.008291	1	0
U2AF2	11338	broad.mit.edu	37	19	56173908	56173908	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:56173908G>T	ENST00000450554.2	+	6	1486	c.527G>T	c.(526-528)gGg>gTg	p.G176V	CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.G12V|CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000308924.4_Missense_Mutation_p.G176V	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	176	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	p.G176E(1)|p.G176V(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		ATGCGCCTGGGGGGGCTGACC	0.607000													5	53					0.00116845	0.00133948	0.001168	1	0
KATNA1	11104	broad.mit.edu	37	6	149959680	149959680	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:149959680T>C	ENST00000367411.2	-	2	262	c.4A>G	c.(4-6)Agt>Ggt	p.S2G	KATNA1_ENST00000335647.5_Missense_Mutation_p.S2G|KATNA1_ENST00000335643.8_Missense_Mutation_p.S2G	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	2	Interaction with KATNB1.|Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity	p.S2G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		ATAAGAAGACTCATGTTCAAC	0.328000													19	115					0	0	0.007413	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133849	91133849	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:91133849G>T	ENST00000373094.1	+	2	3455	c.2610G>T	c.(2608-2610)aaG>aaT	p.K870N	PCDH11X_ENST00000361724.1_Missense_Mutation_p.K870N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.K870N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.K870N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.K870N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.K870N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.K870N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.K870N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.K870N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	870	Poly-Lys.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.K870N(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						Tgaagaaaaagaaaaagaaga	0.413000													24	21					1.1804e-14	2.01888e-14	0.003954	1	0
DNAJC5G	285126	broad.mit.edu	37	2	27501140	27501140	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:27501140C>T	ENST00000296097.3	+	5	878	c.460C>T	c.(460-462)Cct>Tct	p.P154S	DNAJC5G_ENST00000404433.1_Missense_Mutation_p.P138S|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.P154S|DNAJC5G_ENST00000406962.1_Silent_p.H66H	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	154					protein folding	membrane	heat shock protein binding|unfolded protein binding	p.P154S(1)		cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAAACCACCACCTGAGCAGGA	0.478000													5	23					0	0	0.000602	0	0
SRGAP1	57522	broad.mit.edu	37	12	64502733	64502733	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:64502733G>A	ENST00000355086.3	+	16	2359	c.1835G>A	c.(1834-1836)aGg>aAg	p.R612K	SRGAP1_ENST00000357825.3_Missense_Mutation_p.R589K|RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.R549K	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	612	Rho-GAP.				axon guidance	cytosol		p.R612K(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTCTATGAGAGGGCGCTTCAC	0.453000													4	87					0	0	0.009096	0	0
PROL1	58503	broad.mit.edu	37	4	71275358	71275358	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:71275358C>A	ENST00000399575.2	+	3	487	c.313C>A	c.(313-315)Cta>Ata	p.L105I	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	105	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	p.Y102fs*3(1)|p.L105I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TTATCCAAACCTACATTTCCC	0.388000													35	206					4.10981e-09	6.12766e-09	0.005524	1	0
ZNF841	284371	broad.mit.edu	37	19	52569171	52569171	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:52569171C>G	ENST00000389534.4	-	7	2423	c.1964G>C	c.(1963-1965)tGt>tCt	p.C655S	ZNF841_ENST00000594295.1_Missense_Mutation_p.C655S|ZNF841_ENST00000426391.2_Missense_Mutation_p.C539S|ZNF841_ENST00000359973.2_Intron|ZNF432_ENST00000598446.1_Intron	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C655S(2)|p.C96S(1)		breast(1)|endometrium(4)|kidney(3)|lung(3)	11						ACAATCATTACATTTATAAGG	0.423000													14	87					0	0	0.001855	0	0
FRYL	285527	broad.mit.edu	37	4	48512111	48512111	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:48512111C>T	ENST00000358350.4	-	59	8963	c.8359G>A	c.(8359-8361)Gat>Aat	p.D2787N	FRYL_ENST00000264319.7_Missense_Mutation_p.D183N|FRYL_ENST00000537810.1_Missense_Mutation_p.D2787N|FRYL_ENST00000507873.2_Missense_Mutation_p.D183N|FRYL_ENST00000503238.1_Missense_Mutation_p.D2787N	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2787					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.D2787N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TTGTATGTATCCAGGTGTTCT	0.438000													7	49					0	0	0.003080	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209169637	209169637	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:209169637C>T	ENST00000264380.4	+	12	1694	c.1536C>T	c.(1534-1536)gcC>gcT	p.A512A	PIKFYVE_ENST00000407449.1_Silent_p.A512A|PIKFYVE_ENST00000392202.3_Silent_p.A415A|PIKFYVE_ENST00000308862.6_Silent_p.A426A	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	512					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.A512A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GTGACTCAGCCGCTTCTATCA	0.512000													8	80					0	0	0.004482	0	0
EPHB6	2051	broad.mit.edu	37	7	142564038	142564038	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:142564038G>T	ENST00000392957.2	+	9	2213	c.1426G>T	c.(1426-1428)Gct>Tct	p.A476S	EPHB6_ENST00000411471.2_Missense_Mutation_p.A199S|EPHB6_ENST00000442129.1_Missense_Mutation_p.A476S	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	476	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.A461S(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCCTCCTCAGGCTGCAGCCAT	0.592000													4	25					2.56e-06	3.4442e-06	0.009096	1	0
KRTAP4-3	85290	broad.mit.edu	37	17	39324300	39324300	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:39324300G>T	ENST00000391356.2	-	1	124	c.125C>A	c.(124-126)cCc>cAc	p.P42H		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	42	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].					keratin filament		p.P42H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			gcagcagctggggcggcagca	0.657000													4	23					0.00024832	0.000297984	0.009096	1	0
ADH6	130	broad.mit.edu	37	4	100131611	100131611	+	Missense_Mutation	SNP	G	G	T	rs148378840	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:100131611G>T	ENST00000394897.1	-	4	393	c.311C>A	c.(310-312)tCt>tAt	p.S104Y	RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_5'UTR|ADH6_ENST00000394899.2_Missense_Mutation_p.S104Y|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000237653.7_Missense_Mutation_p.S104Y|RP11-696N14.1_ENST00000506454.1_RNA			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	104					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	p.S104Y(2)		breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	ATTCAGGCAAGAGGTACATTC	0.299000													14	110					2.23348e-06	3.01035e-06	0.004007	1	0
NES	10763	broad.mit.edu	37	1	156642540	156642540	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:156642540C>T	ENST00000368223.3	-	4	1572	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	480	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	p.K480K(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATTCTCCATCCTTAGCCTCTA	0.587000													28	175					0	0	0.009535	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316534	39316534	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:39316534T>G	ENST00000390661.3	-	1	449	c.410A>C	c.(409-411)cAg>cCg	p.Q137P		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	137	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGGTGGTCTGGCAGCACTG	0.647000													5	42					0	0	0.003080	0	0
FSHR	2492	broad.mit.edu	37	2	49190968	49190968	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:49190968G>T	ENST00000406846.2	-	10	1111	c.992C>A	c.(991-993)aCt>aAt	p.T331N	FSHR_ENST00000346173.3_Missense_Mutation_p.T269N|FSHR_ENST00000541117.1_Missense_Mutation_p.T67N|FSHR_ENST00000304421.4_Missense_Mutation_p.T305N	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	331					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.T331N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GTCAAACTCAGTGTACGTCAT	0.463000									Gonadal Dysgenesis, 46 XX				11	142					5.16669e-11	8.23129e-11	0.000978	1	0
SERINC2	347735	broad.mit.edu	37	1	31898241	31898241	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:31898241G>T	ENST00000373710.1	+	5	757	c.484G>T	c.(484-486)Ggc>Tgc	p.G162C	SERINC2_ENST00000536859.1_Missense_Mutation_p.G157C|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000373709.3_Missense_Mutation_p.G153C|SERINC2_ENST00000536384.1_Missense_Mutation_p.G157C	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	153						integral to membrane		p.G153C(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CATTCCTGACGGCTCCTTCAC	0.592000													10	37					2.32078e-09	3.50236e-09	0.003163	1	0
CMC4	100272147	broad.mit.edu	37	X	154290188	154290188	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:154290188C>G	ENST00000369484.3	-	3	815	c.137G>C	c.(136-138)aGa>aCa	p.R46T	CMC4_ENST00000369479.1_Missense_Mutation_p.R46T	NM_001018024.2	NP_001018024.1			C-x(9)-C motif containing 4									p.R46T(1)									GACGACAGATCTTCCCTTGGG	0.438000													3	80					0	0	0.004672	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905684	144905684	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:144905684A>T	ENST00000370490.1	+	1	5996	c.1741A>T	c.(1741-1743)Agc>Tgc	p.S581C	SLITRK2_ENST00000413937.2_Missense_Mutation_p.S581C|SLITRK2_ENST00000447897.2_Missense_Mutation_p.S581C|SLITRK2_ENST00000428560.2_Missense_Mutation_p.S581C|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S581C			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	581						integral to membrane		p.S581C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTCCAGACAGCCCAAACTT	0.473000													8	22					0	0	0.003080	0	0
UNC79	57578	broad.mit.edu	37	14	94088672	94088672	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:94088672C>A	ENST00000553484.1	+	31	5313	c.5159C>A	c.(5158-5160)tCt>tAt	p.S1720Y	UNC79_ENST00000393151.2_Missense_Mutation_p.S1698Y|UNC79_ENST00000555664.1_Missense_Mutation_p.S1698Y|UNC79_ENST00000256339.4_Missense_Mutation_p.S1521Y			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1698						integral to membrane		p.S1720Y(1)|p.S1521Y(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GACTTTTCTTCTAAGGACTCA	0.537000													15	63					7.93312e-07	1.07902e-06	0.002450	1	0
CAMK1D	57118	broad.mit.edu	37	10	12870807	12870807	+	Missense_Mutation	SNP	C	C	T	rs148446769		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:12870807C>T	ENST00000378847.3	+	11	1416	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L		NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	360	Ser-rich.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.S360L(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		ATTTCTTCTTCGTCGGGGGTC	0.592000													6	53					0	0	0.004482	0	0
SEPT8	23176	broad.mit.edu	37	5	132097248	132097248	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:132097248G>A	ENST00000296873.7	-	7	1147	c.864C>T	c.(862-864)ctC>ctT	p.L288L	SEPT8_ENST00000448933.1_Silent_p.L228L|SEPT8_ENST00000458488.2_Silent_p.L288L|SEPT8_ENST00000378701.1_Silent_p.L286L|SEPT8_ENST00000378721.4_Silent_p.L286L|SEPT8_ENST00000378706.1_Silent_p.L288L|SEPT8_ENST00000378719.2_Silent_p.L288L|SEPT8_ENST00000378699.2_Silent_p.L228L	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	288					cell cycle	septin complex	GTP binding|protein binding	p.L288L(1)	SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTGCTCGCGGAGGTCTTCCA	0.592000													8	33					0	0	0.004482	0	0
TDRD9	122402	broad.mit.edu	37	14	104508469	104508469	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:104508469C>A	ENST00000409874.4	+	34	3967	c.3919C>A	c.(3919-3921)Ctt>Att	p.L1307I	TDRD9_ENST00000339063.5_Missense_Mutation_p.L1116I	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	1307					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.L831I(1)|p.L1307I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATGCAAGTGTCTTGGGCCAGA	0.458000													13	42					0.00185496	0.0021167	0.001855	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146997243	146997243	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:146997243G>C	ENST00000361727.3	+	9	1875	c.1359G>C	c.(1357-1359)ttG>ttC	p.L453F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	453	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.L453F(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTTCTGGGTTGAATGATGGAC	0.378000										HNSCC(39;0.1)			9	95					0	0	0.008291	0	0
HELQ	113510	broad.mit.edu	37	4	84374799	84374799	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:84374799C>A	ENST00000295488.3	-	2	759	c.597G>T	c.(595-597)caG>caT	p.Q199H	HELQ_ENST00000510985.1_Missense_Mutation_p.Q199H	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	199							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.Q199H(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGTATATAGCCTGTGAGGAAG	0.388000								Other identified genes with known or suspected DNA repair function					41	130					7.53189e-24	1.37346e-23	0.007835	1	0
ATP2B3	492	broad.mit.edu	37	X	152818719	152818719	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:152818719C>A	ENST00000370186.1	+	11	2334	c.2008C>A	c.(2008-2010)Cgg>Agg	p.R670R	ATP2B3_ENST00000393842.1_Silent_p.R670R|ATP2B3_ENST00000370181.2_Silent_p.R670R|ATP2B3_ENST00000359149.3_Silent_p.R684R|ATP2B3_ENST00000349466.2_Silent_p.R684R|ATP2B3_ENST00000263519.4_Silent_p.R684R			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	684					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.R684R(3)|p.R670R(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGACCCTGTGCGGCCCGAGGT	0.632000													12	9					2.27111e-07	3.15244e-07	0.001368	1	0
PTGER3	5733	broad.mit.edu	37	1	71512593	71512593	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:71512593T>C	ENST00000370924.4	-	1	898	c.668A>G	c.(667-669)cAt>cGt	p.H223R	PTGER3_ENST00000370931.3_Missense_Mutation_p.H223R|PTGER3_ENST00000354608.5_Missense_Mutation_p.H223R|PTGER3_ENST00000414819.1_Missense_Mutation_p.H223R|PTGER3_ENST00000351052.5_Missense_Mutation_p.H223R|PTGER3_ENST00000460330.1_Missense_Mutation_p.H223R|PTGER3_ENST00000306666.5_Missense_Mutation_p.H223R|PTGER3_ENST00000356595.4_Missense_Mutation_p.H223R|PTGER3_ENST00000370932.2_Missense_Mutation_p.H223R	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	223					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	p.H223R(5)		endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GCCCCAGTTATGCGAAGAGCT	0.632000													8	93					0	0	0.008291	0	0
TLR4	7099	broad.mit.edu	37	9	120475175	120475175	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:120475175C>T	ENST00000355622.6	+	3	870	c.769C>T	c.(769-771)Cgt>Tgt	p.R257C	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.R217C	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	257					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.R257C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AGAAGTCCATCGTTTGGTTCT	0.343000													24	96					0	0	0.003330	0	0
PTPRB	5787	broad.mit.edu	37	12	70960398	70960398	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:70960398C>A	ENST00000334414.6	-	15	3765	c.3721G>T	c.(3721-3723)Gca>Tca	p.A1241S	PTPRB_ENST00000550358.1_Missense_Mutation_p.A1153S|PTPRB_ENST00000538708.1_Intron|PTPRB_ENST00000451516.2_Missense_Mutation_p.A933S|PTPRB_ENST00000551525.1_Missense_Mutation_p.A1240S|PTPRB_ENST00000550857.1_Missense_Mutation_p.A933S|PTPRB_ENST00000261266.5_Missense_Mutation_p.A1023S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1023	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.A1023S(2)|p.A1241S(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TATCTTTCTGCCACACCAGCA	0.423000													22	66					5.35356e-11	8.51078e-11	0.002780	1	0
SOBP	55084	broad.mit.edu	37	6	107955303	107955303	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:107955303G>A	ENST00000317357.5	+	6	1914	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	419	Pro-rich.						metal ion binding	p.A419T(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TCCGCACCATGCCTCCAACCC	0.692000													8	58					0	0	0.004482	0	0
TAS1R2	80834	broad.mit.edu	37	1	19167002	19167002	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:19167002G>T	ENST00000375371.3	-	6	1632	c.1611C>A	c.(1609-1611)gcC>gcA	p.A537A		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	537					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.A537A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TATTCGGGCAGGCCTGGCATT	0.592000													4	34					0.00024832	0.000297984	0.009096	1	0
TPRX1	284355	broad.mit.edu	37	19	48305217	48305217	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:48305217G>A	ENST00000535759.1	-	4	1341	c.1342C>T	c.(1342-1344)Cct>Tct	p.P448S	TPRX1_ENST00000543508.1_Missense_Mutation_p.P341S|TPRX1_ENST00000322175.3_Missense_Mutation_p.P351S			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	351						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P351S(1)|p.P351T(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GTGAAGTGAGGGAATAACTGG	0.592000													15	52					0	0	0.003163	0	0
ATF7IP	55729	broad.mit.edu	37	12	14577856	14577856	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:14577856A>T	ENST00000544627.1	+	2	1351	c.1031A>T	c.(1030-1032)gAt>gTt	p.D344V	ATF7IP_ENST00000536444.1_Missense_Mutation_p.D336V|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D336V|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D336V|ATF7IP_ENST00000540793.1_Missense_Mutation_p.D336V|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	336					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	p.D336V(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GACTCATTGGATGAGAAAAAT	0.299000													26	42					0	0	0.003954	0	0
ZNF536	9745	broad.mit.edu	37	19	30936301	30936301	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:30936301G>T	ENST00000355537.3	+	2	1979	c.1832G>T	c.(1831-1833)gGg>gTg	p.G611V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G611V(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TTGTCACACGGGCTGAACCAG	0.557000													12	94					1.61879e-10	2.54626e-10	0.001368	1	0
RNF17	56163	broad.mit.edu	37	13	25341431	25341431	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:25341431G>A	ENST00000255324.5	+	2	204	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.C51Y|RNF17_ENST00000255325.5_Missense_Mutation_p.C51Y	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	51					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.C51Y(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAACTTCAATGTGGACATGCT	0.348000													8	91					0	0	0.003080	0	0
CHD6	84181	broad.mit.edu	37	20	40045883	40045883	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr20:40045883C>G	ENST00000373233.3	-	32	6411	c.6234G>C	c.(6232-6234)caG>caC	p.Q2078H		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2078					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.Q2078H(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCTGTAGCAGCTGAGCAATAG	0.527000													8	91					0	0	0.003080	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554527	20554527	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:20554527G>A	ENST00000329697.6	-	11	1507	c.1339C>T	c.(1339-1341)Cgg>Tgg	p.R447W	ACSM2B_ENST00000567001.1_Missense_Mutation_p.R447W|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R447W|ACSM2B_ENST00000565322.1_Missense_Mutation_p.R368W	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	447					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.R447W(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTGATTCCCCGGTCTCCAAGG	0.498000													27	169					0	0	0.005443	0	0
FAT3	120114	broad.mit.edu	37	11	92532295	92532295	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:92532295G>A	ENST00000298047.6	+	9	6133	c.6116G>A	c.(6115-6117)gGa>gAa	p.G2039E	FAT3_ENST00000409404.2_Missense_Mutation_p.G2039E|FAT3_ENST00000525166.1_Missense_Mutation_p.G1889E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2039	Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.G2039E(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)				CAGACGACTGGAGTCCCCTTT	0.483000										TCGA Ovarian(4;0.039)			9	40					0	0	0.004482	0	0
HEY1	23462	broad.mit.edu	37	8	80679499	80679499	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:80679499G>A	ENST00000337919.5	-	2	313	c.120C>T	c.(118-120)tcC>tcT	p.S40S	HEY1_ENST00000354724.3_Silent_p.S40S	NM_001040708.1	NP_001035798.1	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	40					angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.S40S(2)	HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			ATGTAGTTGGGGACATGGAAC	0.408000			T	NCOA2	mesenchymal chondrosarcoma								89	289					0	0	0.003610	0	0
CCDC129	223075	broad.mit.edu	37	7	31683245	31683245	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:31683245C>A	ENST00000319386.3	+	11	2810	c.1817C>A	c.(1816-1818)gCa>gAa	p.A606E	CCDC129_ENST00000409210.1_Missense_Mutation_p.A662E|CCDC129_ENST00000407970.3_Missense_Mutation_p.A754E|CCDC129_ENST00000451887.2_Missense_Mutation_p.A780E			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	754								p.A754E(1)|p.A606E(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GGGACAAAAGCAAGACAGTTA	0.502000													8	108					0.00307968	0.00345072	0.003080	1	0
SUPT6H	6830	broad.mit.edu	37	17	27000440	27000440	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:27000440C>T	ENST00000314616.6	+	2	304	c.21C>T	c.(19-21)agC>agT	p.S7S	SUPT6H_ENST00000347486.4_Silent_p.S7S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	7	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	p.S7S(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TTGTGGAAAGCGAGGCTGAGG	0.468000													5	26					0	0	0.000602	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52901131	52901131	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:52901131T>A	ENST00000371544.3	-	27	4428	c.4166A>T	c.(4165-4167)cAg>cTg	p.Q1389L	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.Q1390L	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1389					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	p.Q1390L(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCGGACCAGCTGGGCTGCTAA	0.418000													9	36					0	0	0.006214	0	0
TRBC2	28638	broad.mit.edu	37	7	142499641	142499641	+	RNA	SNP	C	C	A	rs1126990		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:142499641C>A	ENST00000466254.1	+	0	401																											GTGGCTTCACCTCCGGTAAGT	0.507000													41	453					1.8453e-21	3.34854e-21	0.002522	1	0
PCDHA4	56144	broad.mit.edu	37	5	140188946	140188946	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:140188946C>T	ENST00000530339.1	+	1	2174	c.2174C>T	c.(2173-2175)gCg>gTg	p.A725V	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A725V|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A725V|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1												p.A725V(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGCTCTGCGCTGCCCACC	0.662000													16	44					0	0	0.004990	0	0
SCN3A	6328	broad.mit.edu	37	2	165987815	165987815	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:165987815C>T	ENST00000360093.3	-	16	2995	c.2504G>A	c.(2503-2505)aGt>aAt	p.S835N	SCN3A_ENST00000409101.3_Missense_Mutation_p.S786N|SCN3A_ENST00000283254.7_Missense_Mutation_p.S835N	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	835						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S835N(1)|p.S786N(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTCCATTAAACTGAGGCTGAC	0.393000													11	97					0	0	0.008291	0	0
CRYGA	1418	broad.mit.edu	37	2	209025704	209025704	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:209025704G>C	ENST00000304502.4	-	3	368	c.349C>G	c.(349-351)Cgt>Ggt	p.R117G		NM_014617.3	NP_055432.2			crystallin, gamma A									p.R117G(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		TCAGGGAGACGGAACAGTTCT	0.562000													6	48					0	0	0.001168	0	0
TBXAS1	6916	broad.mit.edu	37	7	139661722	139661722	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:139661722G>A	ENST00000263552.6	+	13	1365	c.827G>A	c.(826-828)cGg>cAg	p.R276Q	TBXAS1_ENST00000436047.2_Missense_Mutation_p.R276Q|TBXAS1_ENST00000448866.1_Missense_Mutation_p.R275Q|TBXAS1_ENST00000458722.1_Missense_Mutation_p.R321Q|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000425687.1_Missense_Mutation_p.R208Q|TBXAS1_ENST00000416849.2_Missense_Mutation_p.R322Q|TBXAS1_ENST00000336425.5_Missense_Mutation_p.R275Q|TBXAS1_ENST00000411653.1_Missense_Mutation_p.R275Q|TBXAS1_ENST00000414508.2_Missense_Mutation_p.R276Q	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	275					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	p.R276Q(1)|p.R322Q(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CCTTAGAGGCGGAGAGACTTC	0.488000													5	37					0	0	0.001168	0	0
CYLC1	1538	broad.mit.edu	37	X	83129210	83129210	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:83129210C>A	ENST00000329312.4	+	4	1531	c.1494C>A	c.(1492-1494)caC>caA	p.H498Q		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	498					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	p.H498_S499>QP(1)|p.H497_S498>QP(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACAAGAAACACTCAAAGGAAA	0.353000													6	6					3.59834e-05	4.56854e-05	0.001168	1	0
C10orf118	55088	broad.mit.edu	37	10	115922587	115922587	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:115922587C>A	ENST00000369287.3	-	2	707	c.441G>T	c.(439-441)aaG>aaT	p.K147N	C10orf118_ENST00000369285.3_Missense_Mutation_p.K147N|C10orf118_ENST00000369286.1_Missense_Mutation_p.K147N	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	147								p.K147N(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		AAATAAATTTCTTGGTGCAGT	0.358000													18	134					8.28177e-16	1.43964e-15	0.007413	1	0
OR4N2	390429	broad.mit.edu	37	14	20295661	20295661	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:20295661C>A	ENST00000315947.1	+	1	54	c.54C>A	c.(52-54)acC>acA	p.T18T	OR4N2_ENST00000568211.1_Silent_p.T18T	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T18T(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGGTCTGACCCAGTCTCAAG	0.383000													16	178					2.48551e-13	4.18375e-13	0.004990	1	0
OR11H4	390442	broad.mit.edu	37	14	20711524	20711524	+	Missense_Mutation	SNP	G	G	T	rs142588807	by1000genomes	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:20711524G>T	ENST00000315409.2	+	1	627	c.574G>T	c.(574-576)Gac>Tac	p.D192Y		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D192Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		GTGTGACATGGACCCATTGAT	0.433000													23	132					2.32416e-17	4.08788e-17	0.002299	1	0
SERINC5	256987	broad.mit.edu	37	5	79473158	79473158	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:79473158C>A	ENST00000507668.2	-	4	586	c.436G>T	c.(436-438)Gat>Tat	p.D146Y	SERINC5_ENST00000509193.1_Missense_Mutation_p.D146Y|SERINC5_ENST00000513907.1_5'UTR|SERINC5_ENST00000512972.2_Missense_Mutation_p.D146Y|SERINC5_ENST00000512721.1_Missense_Mutation_p.D146Y	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	146					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane		p.D145Y(1)|p.D146Y(1)		endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GTGTCCTGATCTGGAATGAAG	0.403000													13	46					2.32078e-09	3.50236e-09	0.003163	1	0
TYRO3	7301	broad.mit.edu	37	15	41865602	41865602	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:41865602G>T	ENST00000263798.3	+	17	2306	c.2082G>T	c.(2080-2082)ctG>ctT	p.L694L	TYRO3_ENST00000559066.1_Silent_p.L649L	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	694	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.L694L(1)|p.L686L(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCTCCAAACTGCCTGTCAAGT	0.592000													27	168					2.27525e-19	4.0692e-19	0.003954	1	0
OSBPL6	114880	broad.mit.edu	37	2	179255873	179255873	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:179255873G>A	ENST00000190611.4	+	22	2751	c.2375G>A	c.(2374-2376)cGg>cAg	p.R792Q	OSBPL6_ENST00000409631.1_Missense_Mutation_p.R756Q|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R761Q|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R756Q|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R817Q|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R796Q	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	792					lipid transport		lipid binding	p.R817Q(1)|p.R792Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GCGGTGTACCGGCTGTTTGGA	0.507000													21	85					0	0	0.001882	0	0
CNTN4	152330	broad.mit.edu	37	3	2924927	2924927	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:2924927G>T	ENST00000397461.1	+	8	1135	c.751G>T	c.(751-753)Gga>Tga	p.G251*	CNTN4_ENST00000358480.3_Nonsense_Mutation_p.G32*|CNTN4_ENST00000418658.1_Nonsense_Mutation_p.G251*|CNTN4_ENST00000427331.1_Nonsense_Mutation_p.G251*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	251	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.G251*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTTTGCTTTAGGAAAGTAAGT	0.463000													4	26					0.00024832	0.000297984	0.009096	1	0
RPN2	6185	broad.mit.edu	37	20	35826893	35826893	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr20:35826893G>T	ENST00000237530.6	+	3	612	c.301G>T	c.(301-303)Gag>Tag	p.E101*	RPN2_ENST00000373622.5_Intron	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	101					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	p.E101*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTCAGGATGTGAGGTGAGTCC	0.443000													5	63					0.000157383	0.000191329	0.003080	1	0
ANKMY2	57037	broad.mit.edu	37	7	16666776	16666776	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:16666776C>A	ENST00000306999.2	-	3	403	c.160G>T	c.(160-162)Gca>Tca	p.A54S		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	54						cilium	zinc ion binding	p.A54S(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CCTTTATATGCTGCATGCATT	0.353000													10	37					9.16793e-09	1.34007e-08	0.004990	1	0
MUC16	94025	broad.mit.edu	37	19	9065531	9065531	+	Silent	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:9065531G>C	ENST00000397910.4	-	3	22118	c.21915C>G	c.(21913-21915)acC>acG	p.T7305T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7307	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7305T(2)|p.T2938T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTTTCTTGTGGTGGATATTT	0.463000													8	38					0	0	0.003080	0	0
SNAI2	6591	broad.mit.edu	37	8	49832731	49832731	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:49832731G>T	ENST00000396822.1	-	3	706	c.349C>A	c.(349-351)Ctt>Att	p.L117I	SNAI2_ENST00000020945.1_Missense_Mutation_p.L117I			O43623	SNAI2_HUMAN	snail family zinc finger 2	117					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L117I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GGGTCTGAAAGCTTGGACTGT	0.493000													71	225					1.91593e-42	3.59963e-42	0.003610	1	0
ABCA11P	79963	broad.mit.edu	37	4	419845	419845	+	RNA	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:419845C>A	ENST00000451020.2	-	0	1193					NR_002451.2																						AGAGCTTCCACCTGAGTAGGT	0.403000													3	14					0.004672	0.00511925	0.004672	1	0
GALNT13	114805	broad.mit.edu	37	2	155099313	155099313	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:155099313G>A	ENST00000392825.3	+	6	1148	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	GALNT13_ENST00000409237.1_Missense_Mutation_p.R194Q	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	194	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R194Q(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GCCCGTCTTCGAGGAGCAGCT	0.423000													5	43					0	0	0.000602	0	0
SYNE1	23345	broad.mit.edu	37	6	152748945	152748945	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:152748945C>G	ENST00000367255.5	-	38	5584	c.4983G>C	c.(4981-4983)gaG>gaC	p.E1661D	SYNE1_ENST00000448038.1_Missense_Mutation_p.E1668D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1668D|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1661D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1661D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1731D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1661					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.E1661D(2)|p.E1668D(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATAGTTCTTTCTCTAGCCTAA	0.418000										HNSCC(10;0.0054)			19	59					0	0	0.008871	0	0
FAM180A	389558	broad.mit.edu	37	7	135418761	135418761	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:135418761C>T	ENST00000338588.3	-	3	749	c.484G>A	c.(484-486)Gac>Aac	p.D162N	FAM180A_ENST00000415751.1_Missense_Mutation_p.D162N	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	162						extracellular region		p.D162N(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						CGCATCAAGTCGTGCCTCAGG	0.612000													3	22					0	0	0.004672	0	0
FAM173B	134145	broad.mit.edu	37	5	10239183	10239183	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:10239183C>A	ENST00000511437.1	-	2	314	c.302G>T	c.(301-303)cGc>cTc	p.R101L	FAM173B_ENST00000510047.1_Missense_Mutation_p.R101L|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_5'UTR	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	101						integral to membrane		p.R101L(1)|p.R101H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						ACTCACAATGCGTCCGTCCCC	0.398000													14	97					1.5739e-10	2.48089e-10	0.004007	1	0
CYLC1	1538	broad.mit.edu	37	X	83128653	83128653	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:83128653G>T	ENST00000329312.4	+	4	974	c.937G>T	c.(937-939)Gtt>Ttt	p.V313F		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	313					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	p.V312F(1)|p.V313F(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TTCAAAGAAAGTTAAGAAAAA	0.348000													3	18					0.00909568	0.0098791	0.009096	1	0
TDP1	55775	broad.mit.edu	37	14	90429942	90429942	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:90429942A>T	ENST00000335725.4	+	3	734	c.484A>T	c.(484-486)Aac>Tac	p.N162Y	TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000393454.2_Missense_Mutation_p.N162Y|TDP1_ENST00000555880.1_Missense_Mutation_p.N162Y|TDP1_ENST00000393452.3_Missense_Mutation_p.N162Y	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	162					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	p.N162Y(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GGATAAAGGGAACCCCTTCCA	0.522000								Repair of DNA-protein crosslinks					8	45					0	0	0.003080	0	0
PNPLA1	285848	broad.mit.edu	37	6	36269754	36269754	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:36269754C>G	ENST00000394571.2	+	6	892	c.892C>G	c.(892-894)Cga>Gga	p.R298G	PNPLA1_ENST00000388715.3_Missense_Mutation_p.R203G|PNPLA1_ENST00000312917.5_Missense_Mutation_p.R212G	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	298					lipid catabolic process		hydrolase activity	p.R203G(1)|p.R298G(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ACCAAGCCTTCGAGCACGGCA	0.582000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	36					0	0	0.001168	0	0
UBE2Q2	92912	broad.mit.edu	37	15	76168549	76168549	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:76168549C>T	ENST00000267938.4	+	6	992	c.610C>T	c.(610-612)Caa>Taa	p.Q204*	UBE2Q2_ENST00000569423.1_Nonsense_Mutation_p.Q169*|UBE2Q2_ENST00000338677.4_Nonsense_Mutation_p.Q204*|UBE2Q2_ENST00000561851.1_Nonsense_Mutation_p.Q188*	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	204					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity	p.Q204*(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						TGGGTCAGTGCAAGCTTCAGA	0.408000													55	230					0	0	0.003610	0	0
ZEB2	9839	broad.mit.edu	37	2	145157460	145157460	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:145157460C>A	ENST00000558170.2	-	8	2478	c.1294G>T	c.(1294-1296)Gct>Tct	p.A432S	ZEB2_ENST00000539609.3_Missense_Mutation_p.A408S|ZEB2_ENST00000303660.4_Missense_Mutation_p.A432S|ZEB2_ENST00000409487.3_Missense_Mutation_p.A432S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	432						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.A432S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGACTCTGAGCAGATGGATGA	0.458000													13	58					7.03913e-09	1.03296e-08	0.001368	1	0
COPB2	9276	broad.mit.edu	37	3	139096978	139096978	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:139096978C>G	ENST00000333188.5	-	5	590	c.409G>C	c.(409-411)Gtg>Ctg	p.V137L	COPB2_ENST00000507777.1_Missense_Mutation_p.V108L	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	137					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	p.V137L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CCTTCAAACACTTGTGAGCAA	0.398000													61	177					0	0	0.003610	0	0
LARP4	113251	broad.mit.edu	37	12	50829370	50829370	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:50829370G>T	ENST00000398473.2	+	5	610	c.498G>T	c.(496-498)ttG>ttT	p.L166F	LARP4_ENST00000522085.1_Missense_Mutation_p.L166F|LARP4_ENST00000429001.3_Missense_Mutation_p.L172F|LARP4_ENST00000518444.1_Missense_Mutation_p.L165F|LARP4_ENST00000347328.5_Missense_Mutation_p.L166F|LARP4_ENST00000518561.1_Missense_Mutation_p.L96F|LARP4_ENST00000293618.8_Missense_Mutation_p.L166F	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	166	HTH La-type RNA-binding.						nucleotide binding|RNA binding	p.L166F(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TAAAAAAGTTGACTACAGACC	0.299000													13	64					6.81908e-15	1.17168e-14	0.002450	1	0
GRIA2	2891	broad.mit.edu	37	4	158142240	158142240	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:158142240T>A	ENST00000296526.7	+	1	371	c.46T>A	c.(46-48)Tgg>Agg	p.W16R	GRIA2_ENST00000264426.9_Missense_Mutation_p.W16R|GRIA2_ENST00000504801.1_Intron|GRIA2_ENST00000393815.2_Intron|GRIA2_ENST00000507898.1_Intron	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	16					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.W16R(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TCCTGTTTTATGGGGACTGAT	0.368000													25	194					0	0	0.005443	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1148426	1148426	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:1148426C>G	ENST00000379236.3	-	3	320	c.316G>C	c.(316-318)Gtc>Ctc	p.V106L	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	106					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity	p.V106L(1)		large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAGCGGCAGACTGTGTCCTGT	0.701000													3	27					0	0	0.004672	0	0
UTRN	7402	broad.mit.edu	37	6	144745141	144745141	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:144745141G>T	ENST00000367545.3	+	5	332	c.332G>T	c.(331-333)gGg>gTg	p.G111V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	111	Actin-binding.|CH 1.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.G111V(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GTGAATATAGGGGGAACTGAC	0.353000													16	130					6.94344e-10	1.06514e-09	0.006122	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125204494	125204494	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:125204494G>T	ENST00000431078.1	+	6	1262	c.898G>T	c.(898-900)Gcc>Tcc	p.A300S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	300	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.A300S(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CGAGACGGATGCCTTAGACAT	0.557000													8	40					5.18039e-06	6.87025e-06	0.003080	1	0
UBBP4	23666	broad.mit.edu	37	17	21731274	21731274	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:21731274C>A	ENST00000584755.1	+	2	973	c.576C>A	c.(574-576)agC>agA	p.S192R	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron														p.S192R(1)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CCCCGATCAGCAGAGGCTCAT	0.552000													6	37					8.12818e-05	0.000100122	0.001984	1	0
CRIPAK	285464	broad.mit.edu	37	4	1389358	1389358	+	Silent	SNP	G	G	T	rs71299249		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:1389358G>T	ENST00000324803.4	+	1	4019	c.1059G>T	c.(1057-1059)ctG>ctT	p.L353L		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	353					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	p.L353L(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGCCCGCCTGCTCACACGTG	0.662000													26	151					1.39806e-14	2.38567e-14	0.008361	1	0
LPA	4018	broad.mit.edu	37	6	161012107	161012107	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:161012107T>A	ENST00000447678.1	-	24	3776	c.3656A>T	c.(3655-3657)aAt>aTt	p.N1219I	LPA_ENST00000316300.5_Missense_Mutation_p.N1219I	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3727	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.N1219I(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGCATCTGGATTCCTGCAGTA	0.453000													3	32					0	0	0.000602	0	0
SLC6A15	55117	broad.mit.edu	37	12	85285811	85285811	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:85285811G>T	ENST00000450363.3	-	2	547	c.89C>A	c.(88-90)gCt>gAt	p.A30D	SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000266682.5_Missense_Mutation_p.A30D	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	30					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.A30D(2)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AGCATCATCAGCTGCGTCTTC	0.398000													22	190					5.26018e-13	8.73565e-13	0.001882	1	0
NT5C1A	84618	broad.mit.edu	37	1	40131791	40131791	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:40131791C>A	ENST00000235628.1	-	2	252	c.253G>T	c.(253-255)Gaa>Taa	p.E85*		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	85					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	p.E85*(1)		breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTCTCATGTTCCAGCTGGTAG	0.577000													7	43					8.12818e-05	0.000100122	0.001984	1	0
FOXG1	2290	broad.mit.edu	37	14	29237307	29237307	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:29237307G>T	ENST00000382535.3	+	2	1191	c.822G>T	c.(820-822)cgG>cgT	p.R274R	FOXG1_ENST00000313071.4_Silent_p.R274R			P55316	FOXG1_HUMAN	forkhead box G1	274				Missing (in Ref. 1; CAA52240 and 2; CAA55038).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.R274R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GCAAGCTGCGGCGCCGCTCCA	0.701000													4	19					3.59834e-05	4.56854e-05	0.001168	1	0
POLQ	10721	broad.mit.edu	37	3	121208671	121208671	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:121208671C>T	ENST00000264233.5	-	16	3235	c.3107G>A	c.(3106-3108)aGc>aAc	p.S1036N		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1036					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.S1171N(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAAACTTCTGCTCATCTTTTC	0.408000								DNA polymerases (catalytic subunits)					5	77					0	0	0.000602	0	0
ZNF813	126017	broad.mit.edu	37	19	53995126	53995126	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:53995126G>C	ENST00000396403.4	+	4	1768	c.1640G>C	c.(1639-1641)gGa>gCa	p.G547A	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G547A(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CTTCATACTGGAGATAAACCT	0.378000													9	20					0	0	0.004482	0	0
TPX2	22974	broad.mit.edu	37	20	30366632	30366632	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr20:30366632G>T	ENST00000340513.4	+	10	1427	c.899G>T	c.(898-900)gGa>gTa	p.G300V	TPX2_ENST00000300403.6_Missense_Mutation_p.G300V			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	300					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	p.G300V(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GTGACTAAGGGATGTACCATT	0.433000													15	148					2.35188e-11	3.8122e-11	0.006122	1	0
CSRNP3	80034	broad.mit.edu	37	2	166451702	166451702	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:166451702T>C	ENST00000314499.7	+	4	503	c.127T>C	c.(127-129)Tcc>Ccc	p.S43P	CSRNP3_ENST00000409420.1_Missense_Mutation_p.S75P|CSRNP3_ENST00000342316.4_Missense_Mutation_p.S43P	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	43	Ser-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S43P(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TGTCAATCCATCCACTTCTAG	0.428000													13	82					0	0	0.003163	0	0
GPR161	23432	broad.mit.edu	37	1	168065747	168065747	+	Splice_Site	SNP	T	T	A	rs28679686		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:168065747T>A	ENST00000367838.1	-	5	1411	c.1099_splice	c.e5+1	p.T366_splice	GPR161_ENST00000367835.1_Splice_Site_p.T366_splice|GPR161_ENST00000537209.1_Splice_Site_p.T386_splice|GPR161_ENST00000271357.5_Splice_Site_p.T366_splice|GPR161_ENST00000539777.1_Splice_Site_p.T288_splice|GPR161_ENST00000546300.1_Splice_Site_p.T252_splice|GPR161_ENST00000367836.1_Splice_Site_p.T234_splice|GPR161_ENST00000361697.2_Splice_Site_p.T366_splice	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	366					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T366T(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCAAGTTACCTGTGATCCTGT	0.517000													5	52					0	0	0.001168	0	0
CCDC63	160762	broad.mit.edu	37	12	111318979	111318979	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:111318979G>A	ENST00000308208.5	+	7	974	c.732G>A	c.(730-732)caG>caA	p.Q244Q	CCDC63_ENST00000552694.1_Silent_p.Q165Q|CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000545036.1_Silent_p.Q204Q	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	244								p.Q244Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						ACACCTCTCAGTACAACCTGG	0.557000													10	25					0	0	0.006214	0	0
FBXW7	55294	broad.mit.edu	37	4	153253847	153253847	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:153253847G>A	ENST00000281708.4	-	6	2115	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L	FBXW7_ENST00000393956.3_Silent_p.L120L|FBXW7_ENST00000263981.5_Silent_p.L216L|FBXW7_ENST00000603841.1_Silent_p.L296L|FBXW7_ENST00000603548.1_Silent_p.L296L|FBXW7_ENST00000296555.5_Silent_p.L178L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	296	F-box.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.L296L(2)|p.L216L(1)|p.L57L(1)|p.L178L(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTGGGTTCCAGGAATGAAAGC	0.353000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								6	57					0	0	0.001168	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768285	31768285	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:31768285G>T	ENST00000240587.4	-	2	2741	c.2414C>A	c.(2413-2415)tCa>tAa	p.S805*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	805					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.S622*(1)|p.S805*(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)					CAGAAGCACTGAACCCAAGGA	0.542000													9	34					1.12685e-05	1.46826e-05	0.004482	1	0
LOC101927079	101927079	broad.mit.edu	37	15	22332768	22332768	+	RNA	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:22332768C>A	ENST00000558896.1	+	0	575																											CAGTTATGGCCTATGACAGGT	0.498000													6	60					0.00116845	0.00133948	0.001168	1	0
KCNA2	3737	broad.mit.edu	37	1	111147160	111147160	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:111147160C>A	ENST00000485317.1	-	3	918	c.245G>T	c.(244-246)cGc>cTc	p.R82L	KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.R82L|KCNA2_ENST00000440270.1_Missense_Mutation_p.R82L|KCNA2_ENST00000369770.3_Missense_Mutation_p.R82L			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	82						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.R82L(1)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		AAAGCTAGGGCGGTTCCGATC	0.478000													11	70					6.40141e-05	7.9643e-05	0.000978	1	0
OR4K14	122740	broad.mit.edu	37	14	20482705	20482705	+	Silent	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:20482705C>G	ENST00000305045.2	-	1	647	c.648G>C	c.(646-648)ctG>ctC	p.L216L		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L216L(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGTAGGAGATCAGGAGGAGCA	0.502000													3	11					0	0	0.004672	0	0
TAS1R1	80835	broad.mit.edu	37	1	6636489	6636489	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:6636489C>A	ENST00000333172.6	+	4	1468	c.1275C>A	c.(1273-1275)atC>atA	p.I425I	TAS1R1_ENST00000328191.4_Intron|TAS1R1_ENST00000351136.3_Silent_p.I171I	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	425					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.I425I(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGGAGCAGATCCACAAGGTGC	0.507000													20	195					0.00121646	0.00139238	0.008871	1	0
HMCN1	83872	broad.mit.edu	37	1	186077635	186077635	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:186077635C>T	ENST00000271588.4	+	71	11124	c.10895C>T	c.(10894-10896)aCt>aTt	p.T3632I	HMCN1_ENST00000367492.2_Missense_Mutation_p.T3632I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3632	Ig-like C2-type 35.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.T3632I(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						CGGGATATCACTGTGTTACGG	0.423000													32	79					0	0	0.002836	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817245	69817245	+	Silent	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:69817245A>G	ENST00000251566.4	-	1	264	c.234T>C	c.(232-234)caT>caC	p.H78H		NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	78						integral to membrane	glucuronosyltransferase activity	p.H78H(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCTGTGGCATATGGACCACCT	0.403000													10	76					0	0	0.006214	0	0
ZNF770	54989	broad.mit.edu	37	15	35275448	35275448	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:35275448G>A	ENST00000356321.4	-	3	532	c.188C>T	c.(187-189)aCc>aTc	p.T63I		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T63I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTGTCTAAAGGTTTTATGACA	0.338000													8	74					0	0	0.006214	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541158	133541158	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:133541158G>T	ENST00000409261.1	-	14	3599	c.3226C>A	c.(3226-3228)Ctg>Atg	p.L1076M	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.L1076M	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1076							protein binding	p.L1076M(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTCATTTCCAGTGGCTCATGG	0.512000													21	199					1.96895e-08	2.84446e-08	0.002780	1	0
DMXL1	1657	broad.mit.edu	37	5	118500202	118500202	+	Splice_Site	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:118500202G>T	ENST00000311085.8	+	20	4783	c.4702_splice	c.e20-1	p.G1568_splice	DMXL1_ENST00000539542.1_Splice_Site_p.G1568_splice	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1568								p.G1568V(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATTTCTTCAGGCCTGTCTACA	0.333000													12	45					6.40141e-05	7.9643e-05	0.000978	1	0
TDP1	55775	broad.mit.edu	37	14	90429941	90429941	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:90429941G>T	ENST00000335725.4	+	3	733	c.483G>T	c.(481-483)ggG>ggT	p.G161G	TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000393454.2_Silent_p.G161G|TDP1_ENST00000555880.1_Silent_p.G161G|TDP1_ENST00000393452.3_Silent_p.G161G	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	161					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	p.N162Y(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TGGATAAAGGGAACCCCTTCC	0.522000								Repair of DNA-protein crosslinks					9	43					3.09899e-07	4.27763e-07	0.004482	1	0
SSPO	23145	broad.mit.edu	37	7	149483226	149483226	+	RNA	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:149483226C>A	ENST00000378016.2	+	0	3294							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity	p.Y348*(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAAGGTCTACACAGGCCCTG	0.657000													3	15					0.00024832	0.000297984	0.009096	1	0
ZNF131	7690	broad.mit.edu	37	5	43174960	43174960	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:43174960G>A	ENST00000509634.1	+	7	1951	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	ZNF131_ENST00000399534.1_Missense_Mutation_p.E533K|ZNF131_ENST00000505606.2_Missense_Mutation_p.E499K|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000306938.4_Missense_Mutation_p.E499K|ZNF131_ENST00000509156.1_Missense_Mutation_p.E533K			P52739	ZN131_HUMAN	zinc finger protein 131	533						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E499K(1)		breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AATTCAGACTGAAGAAGGTAC	0.478000													6	44					0	0	0.001168	0	0
OR52A5	390054	broad.mit.edu	37	11	5152927	5152927	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:5152927T>A	ENST00000307388.1	-	1	945	c.946A>T	c.(946-948)Act>Tct	p.T316S		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T316S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AACGATCAAGTTACTTTTTTG	0.348000													6	49					0	0	0.001168	0	0
ZNF214	7761	broad.mit.edu	37	11	7021692	7021692	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:7021692G>A	ENST00000278314.4	-	3	1537	c.1222C>T	c.(1222-1224)Cac>Tac	p.H408Y	ZNF214_ENST00000536068.1_Missense_Mutation_p.H408Y	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H408Y(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCTCCTGTGTGTACTAACTGA	0.418000													20	83					0	0	0.008871	0	0
FBXL7	23194	broad.mit.edu	37	5	15928432	15928432	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:15928432G>T	ENST00000504595.1	+	3	1042	c.561G>T	c.(559-561)atG>atT	p.M187I	FBXL7_ENST00000510662.1_Missense_Mutation_p.M140I|FBXL7_ENST00000329673.7_Missense_Mutation_p.M175I	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	187					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.M187I(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGTGTCTCATGCTGGAAACCG	0.632000													3	19					0.00909568	0.0098791	0.009096	1	0
CLDN7	1366	broad.mit.edu	37	17	7164150	7164150	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:7164150G>A	ENST00000571881.2	-	2	651	c.352C>T	c.(352-354)Cat>Tat	p.H118Y	RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000397317.4_Silent_p.F126F|CLDN7_ENST00000360325.7_Silent_p.F126F|CLDN7_ENST00000538261.3_Silent_p.F126F			O95471	CLD7_HUMAN	claudin 7	0					calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity	p.F126F(1)		kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						CTGCCACGATGAAAATTATGC	0.577000													11	60					0	0	0.002450	0	0
MTMR8	55613	broad.mit.edu	37	X	63444307	63444307	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:63444307G>C	ENST00000453546.1	-	11	2079	c.1990C>G	c.(1990-1992)Cgc>Ggc	p.R664G	ASB12_ENST00000396130.2_Missense_Mutation_p.R280G|ASB12_ENST00000362002.2_Missense_Mutation_p.R289G			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	0						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)|p.R664G(1)|p.R289G(1)|p.R280G(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AAGGCTCTGCGGACGACTAAA	0.493000													4	15					0	0	0.009096	0	0
NEO1	4756	broad.mit.edu	37	15	73552647	73552647	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:73552647G>T	ENST00000339362.5	+	16	2686	c.2239G>T	c.(2239-2241)Gta>Tta	p.V747L	NEO1_ENST00000560262.1_Missense_Mutation_p.V747L|NEO1_ENST00000261908.6_Missense_Mutation_p.V747L|NEO1_ENST00000558964.1_Missense_Mutation_p.V747L			Q92859	NEO1_HUMAN	neogenin 1	747	Fibronectin type-III 4.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		p.V747L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTCTCTTCACGTACGCCCGCT	0.478000													10	50					2.80697e-09	4.21046e-09	0.000978	1	0
DST	667	broad.mit.edu	37	6	56373386	56373386	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:56373386C>A	ENST00000370754.5	-	75	19086	c.19087G>T	c.(19087-19089)Gac>Tac	p.D6363Y	DST_ENST00000244364.6_Missense_Mutation_p.D3771Y|DST_ENST00000421834.2_Missense_Mutation_p.D4097Y|DST_ENST00000370788.2_Missense_Mutation_p.D3988Y|DST_ENST00000370769.4_Missense_Mutation_p.D6185Y|DST_ENST00000446842.2_Missense_Mutation_p.D5859Y|DST_ENST00000361203.3_Missense_Mutation_p.D6074Y|DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	6183					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.D3771Y(1)|p.D6185Y(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTTCCAGGTCCCGGATGAAA	0.388000													35	105					5.71845e-15	9.84844e-15	0.005524	1	0
POTEM	641455	broad.mit.edu	37	14	20020050	20020050	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:20020050G>T	ENST00000551509.1	-	1	222	c.171C>A	c.(169-171)ctC>ctA	p.L57L		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	57								p.L57L(2)		endometrium(4)|kidney(1)|lung(4)	9						TCTTGCTCCTGAGTGTCTTCA	0.617000													14	178					0.000308642	0.000367996	0.003163	1	0
MUC5B	727897	broad.mit.edu	37	11	1271325	1271325	+	Silent	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:1271325T>A	ENST00000447027.1	+	31	13282	c.13224T>A	c.(13222-13224)acT>acA	p.T4408T	MUC5B_ENST00000529681.1_Silent_p.T4405T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4405	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.T4360T(1)|p.T4405T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGCAGCCACTGGCCCCACGG	0.652000													19	71					0	0	0.002299	0	0
NRXN1	9378	broad.mit.edu	37	2	50149280	50149280	+	Silent	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:50149280G>C	ENST00000404971.1	-	24	5785	c.4446C>G	c.(4444-4446)gcC>gcG	p.A1482A	NRXN1_ENST00000402717.3_Silent_p.A1434A|NRXN1_ENST00000405472.3_Silent_p.A1434A|NRXN1_ENST00000406859.3_Silent_p.A1412A|NRXN1_ENST00000342183.5_Silent_p.A377A|NRXN1_ENST00000406316.2_Silent_p.A1412A|NRXN1_ENST00000401669.2_Silent_p.A1442A|NRXN1_ENST00000401710.1_Silent_p.A430A	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1412					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.A377A(1)|p.A1482A(1)|p.A1483A(1)|p.A1412A(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)			GGATGCACAGGGCGGCAGCGG	0.562000													6	45					0	0	0.001984	0	0
EVI2B	2124	broad.mit.edu	37	17	29631504	29631504	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:29631504G>T	ENST00000330927.4	-	2	1278	c.1124C>A	c.(1123-1125)cCa>cAa	p.P375Q	EVI2B_ENST00000577894.1_Missense_Mutation_p.P375Q|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.P390Q	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	375						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)|p.P375Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		GTCCAGAGATGGAGGGAGACT	0.438000													13	127					9.05144e-12	1.48332e-11	0.001855	1	0
SEMA7A	8482	broad.mit.edu	37	15	74709982	74709982	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:74709982C>A	ENST00000261918.4	-	5	1048	c.500G>T	c.(499-501)aGa>aTa	p.R167I	SEMA7A_ENST00000543145.2_Missense_Mutation_p.R153I|SEMA7A_ENST00000542748.1_Missense_Mutation_p.R2I	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	167	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	p.R167I(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GGCGTAGCCTCTCATCTCGCC	0.617000													7	26					1.12685e-05	1.46826e-05	0.004482	1	0
CD200R1	131450	broad.mit.edu	37	3	112666767	112666767	+	Silent	SNP	C	C	T	rs145811094		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:112666767C>T	ENST00000308611.3	-	2	336	c.72G>A	c.(70-72)gcG>gcA	p.A24A	CD200R1_ENST00000440122.2_Silent_p.A24A|CD200R1_ENST00000490004.1_Intron|CD200R1_ENST00000471858.1_Intron|CD200R1_ENST00000295863.4_Intron	NM_138806.3	NP_620161.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	22					interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	p.A24A(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						CAGCACCCTCCGCTTCTGAAT	0.363000													7	35					0	0	0.004482	0	0
P2RY10	27334	broad.mit.edu	37	X	78216858	78216858	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:78216858C>G	ENST00000171757.2	+	4	1121	c.841C>G	c.(841-843)Cga>Gga	p.R281G	P2RY10_ENST00000544091.1_Missense_Mutation_p.R281G	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	281						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R281E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TCCCGTTGTCCGAATCGCACT	0.418000													26	96					0	0	0.005443	0	0
PATZ1	23598	broad.mit.edu	37	22	31740992	31740992	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr22:31740992G>A	ENST00000266269.5	-	1	1226	c.597C>T	c.(595-597)agC>agT	p.S199S	PATZ1_ENST00000215919.3_Silent_p.S199S|PATZ1_ENST00000405309.3_Silent_p.S199S|PATZ1_ENST00000351933.4_Silent_p.S199S	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	199					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S199S(2)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CGATGCCATTGCTGTTGGCTG	0.647000													17	27					0	0	0.004007	0	0
COASY	80347	broad.mit.edu	37	17	40716788	40716788	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:40716788G>A	ENST00000393818.2	+	4	1565	c.1109G>A	c.(1108-1110)gGg>gAg	p.G370E	COASY_ENST00000590958.1_Missense_Mutation_p.G399E|COASY_ENST00000449624.1_Missense_Mutation_p.G75E|COASY_ENST00000421097.2_Missense_Mutation_p.G370E|COASY_ENST00000420359.1_Missense_Mutation_p.G370E	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	370	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	p.G370E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		AGTGGCTCTGGGAAGAGCTCA	0.587000													22	116					0	0	0.001882	0	0
VMP1	81671	broad.mit.edu	37	17	57917156	57917156	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:57917156G>C	ENST00000262291.4	+	12	1415	c.1105G>C	c.(1105-1107)Gaa>Caa	p.E369Q	VMP1_ENST00000545362.1_Missense_Mutation_p.E313Q|VMP1_ENST00000537567.1_Missense_Mutation_p.E235Q|VMP1_ENST00000539763.1_Missense_Mutation_p.E177Q|VMP1_ENST00000536180.1_Missense_Mutation_p.E272Q|VMP1_ENST00000588617.1_3'UTR	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	369					autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane		p.E369Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						CTGGATGTTTGAAAAGTTGGT	0.388000													39	382					0	0	0.008740	0	0
CIDEA	1149	broad.mit.edu	37	18	12262964	12262964	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:12262964G>T	ENST00000320477.9	+	2	244	c.179G>T	c.(178-180)aGc>aTc	p.S60I	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	60	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	p.S94I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GAGCTCATCAGCAAGGTGCCC	0.642000													3	14					0.004672	0.00511925	0.004672	1	0
ABCG2	9429	broad.mit.edu	37	4	89018658	89018658	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:89018658T>A	ENST00000237612.3	-	13	2139	c.1594A>T	c.(1594-1596)Agt>Tgt	p.S532C	ABCG2_ENST00000515655.1_Missense_Mutation_p.S532C	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	532	ABC transmembrane type-2.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	p.S532C(2)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	GAAACCACACTCTGACCTGCT	0.428000													15	48					0	0	0.004990	0	0
C16orf78	123970	broad.mit.edu	37	16	49433159	49433159	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:49433159G>T	ENST00000299191.3	+	5	885	c.768G>T	c.(766-768)gtG>gtT	p.V256V		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	256								p.V256V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						CTAAAAAGGTGTTCACCGGAA	0.517000													8	37					5.18039e-06	6.87025e-06	0.003080	1	0
C1orf173	127254	broad.mit.edu	37	1	75037607	75037607	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:75037607C>T	ENST00000326665.5	-	14	4005	c.3787G>A	c.(3787-3789)Gga>Aga	p.G1263R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1263	Glu-rich.							p.G1263R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACATCCACTCCTCCTTGCCCT	0.592000													13	122					0	0	0.001855	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767930	31767930	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:31767930G>T	ENST00000240587.4	-	2	3096	c.2769C>A	c.(2767-2769)atC>atA	p.I923I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	923					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.I740I(1)|p.I923I(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)					GGTCTGACATGATGTACTTCC	0.607000													3	27					0.00909568	0.0098791	0.009096	1	0
TTN	7273	broad.mit.edu	37	2	179640673	179640673	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:179640673G>C	ENST00000589042.1	-	28	6142	c.5918C>G	c.(5917-5919)aCc>aGc	p.T1973S	TTN_ENST00000591111.1_Missense_Mutation_p.T1973S|TTN_ENST00000342992.6_Missense_Mutation_p.T1973S|TTN_ENST00000342175.6_Missense_Mutation_p.T1927S|TTN_ENST00000460472.2_Missense_Mutation_p.T1927S|TTN_ENST00000359218.5_Missense_Mutation_p.T1927S|TTN_ENST00000360870.5_Missense_Mutation_p.T1973S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1709							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T1927S(3)|p.T1973S(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTTCTTTGGTTTCAGTGGT	0.443000													20	210					0	0	0.002299	0	0
SECISBP2	79048	broad.mit.edu	37	9	91940394	91940394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:91940394C>T	ENST00000375807.3	+	3	306	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000339901.4_Intron|SECISBP2_ENST00000534113.2_Nonsense_Mutation_p.Q11*	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	79					translation	nucleus	mRNA 3'-UTR binding	p.Q79*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						TTTTCCACCTCAGTATTTATC	0.388000													28	136					0	0	0.004656	0	0
KRT73	319101	broad.mit.edu	37	12	53002076	53002076	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:53002076C>A	ENST00000305748.3	-	9	1561	c.1527G>T	c.(1525-1527)ggG>ggT	p.G509G	RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	509	Tail.					keratin filament	structural molecule activity	p.G509V(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCTGGCTTCCCCACGGGGGC	0.582000													7	73					3.09899e-07	4.27763e-07	0.004482	1	0
RXFP3	51289	broad.mit.edu	37	5	33938220	33938220	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:33938220C>T	ENST00000330120.3	+	1	1730	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	459						integral to plasma membrane	N-formyl peptide receptor activity	p.R459C(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CAGCGGGGGGCGCTACGACCT	0.736000													4	20					0	0	0.000602	0	0
PRSS1	5644	broad.mit.edu	37	7	142459766	142459766	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:142459766C>A	ENST00000486171.1	+	4	401	c.384C>A	c.(382-384)tcC>tcA	p.S128S	PRSS1_ENST00000311737.7_Silent_p.S114S			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	114	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.S114S(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TCAAGCTCTCCTCACGTGCAG	0.557000													19	127					1.15919e-05	1.50775e-05	0.008871	1	0
GPR149	344758	broad.mit.edu	37	3	154055989	154055989	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:154055989C>T	ENST00000389740.2	-	4	1794	c.1695G>A	c.(1693-1695)ggG>ggA	p.G565G		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	565						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G565G(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ATAGGGTTTTCCCTGTAGGTG	0.453000													29	181					0	0	0.009535	0	0
SAMD9	54809	broad.mit.edu	37	7	92731109	92731109	+	Silent	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:92731109T>C	ENST00000379958.2	-	3	4571	c.4302A>G	c.(4300-4302)ctA>ctG	p.L1434L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1434						cytoplasm		p.L1434L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAGGGAAGCTAGAAAATACG	0.373000													24	155					0	0	0.003330	0	0
ANO4	121601	broad.mit.edu	37	12	101295475	101295475	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:101295475G>T	ENST00000538618.1	+	4	410	c.410G>T	c.(409-411)cGg>cTg	p.R137L	ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	0						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ATCCATCAACGGCGAAGTGTG	0.502000										HNSCC(74;0.22)			11	50					0.000673444	0.000781657	0.008291	1	0
USH2A	7399	broad.mit.edu	37	1	216405371	216405371	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:216405371G>C	ENST00000366943.2	-	14	3303	c.2917C>G	c.(2917-2919)Caa>Gaa	p.Q973E	USH2A_ENST00000366942.3_Missense_Mutation_p.Q973E|USH2A_ENST00000307340.3_Missense_Mutation_p.Q973E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	973	Laminin EGF-like 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.Q973E(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAAGCATCTTGGCAAACACAC	0.443000										HNSCC(13;0.011)			12	122					0	0	0.001855	0	0
THSD7B	80731	broad.mit.edu	37	2	137928454	137928454	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:137928454G>A	ENST00000409968.1	+	7	1847	c.1669G>A	c.(1669-1671)Gga>Aga	p.G557R	THSD7B_ENST00000272643.3_Missense_Mutation_p.G557R|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.G526R|THSD7B_ENST00000485379.1_3'UTR					thrombospondin, type I, domain containing 7B									p.G526R(1)|p.G557R(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCCTGATCATGGAAAATGTGG	0.522000													10	39					0	0	0.006214	0	0
KLHL38	340359	broad.mit.edu	37	8	124664263	124664263	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:124664263C>A	ENST00000325995.7	-	1	927	c.904G>T	c.(904-906)Gtc>Ttc	p.V302F	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	302								p.V302F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TACAGTAGGACGTCCCTGGTG	0.552000													22	61					4.16121e-05	5.24736e-05	0.002780	1	0
NARF	26502	broad.mit.edu	37	17	80436675	80436675	+	Splice_Site	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:80436675G>T	ENST00000390006.4	+	6	817		c.e6-1		NARF_ENST00000345415.7_Splice_Site|NARF_ENST00000457415.3_Splice_Site|NARF_ENST00000581743.1_Splice_Site|NARF_ENST00000309794.10_Splice_Site|NARF_ENST00000412079.2_Splice_Site	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor							lamin filament	lamin binding	p.?(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCTCTCCCCAGGCTGGGTCCG	0.642000													7	32					0.00448238	0.00496264	0.004482	1	0
RQCD1	9125	broad.mit.edu	37	2	219458847	219458847	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:219458847A>T	ENST00000273064.6	+	8	1123	c.748A>T	c.(748-750)Aga>Tga	p.R250*	RQCD1_ENST00000509807.2_Nonsense_Mutation_p.R282*|RQCD1_ENST00000542068.1_Nonsense_Mutation_p.R250*	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	250				AREALRQCLPDQLKDTTFAQVLKDDTTTKRWLAQLV -> F SDLTFCWSSFQR (in Ref. 3; AAH07102).	nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.R250*(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAAGCACTCAGACAGTGCCT	0.507000													6	74					0	0	0.001984	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216164	149216164	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:149216164G>T	ENST00000309241.5	+	8	2178	c.2146G>T	c.(2146-2148)Ggg>Tgg	p.G716W	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.G716W|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.G652W|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.G677W	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	716					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	p.G716W(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGAGCCGTCTGGGGTTCACCT	0.642000													10	32					2.17888e-05	2.80464e-05	0.006214	1	0
SGOL2	151246	broad.mit.edu	37	2	201436413	201436413	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:201436413C>T	ENST00000357799.4	+	7	1442	c.1344C>T	c.(1342-1344)ccC>ccT	p.P448P		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	448					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.P448P(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CAGAAGATCCCGGTTTTATTT	0.403000													15	141					0	0	0.003163	0	0
CYP4F22	126410	broad.mit.edu	37	19	15648395	15648395	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:15648395C>A	ENST00000269703.2	+	6	670	c.471C>A	c.(469-471)cgC>cgA	p.R157R	CYP4F22_ENST00000601005.2_Silent_p.R157R	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	157						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.R157R(1)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GGCACCGTCGCCTGCTGACAC	0.547000													12	55					6.40141e-05	7.9643e-05	0.000978	1	0
PRDM9	56979	broad.mit.edu	37	5	23526942	23526942	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:23526942G>T	ENST00000296682.3	+	11	1927	c.1745G>T	c.(1744-1746)tGc>tTc	p.C582F		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	582					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.C582F(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCCTATGTCTGCAGGGAGTGT	0.597000										HNSCC(3;0.000094)			23	54					3.73988e-18	6.6092e-18	0.006320	1	0
TRIML2	205860	broad.mit.edu	37	4	189026059	189026059	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:189026059A>C	ENST00000512729.1	-	2	441	c.67T>G	c.(67-69)Tcg>Gcg	p.S23A	TRIML2_ENST00000536972.1_Missense_Mutation_p.S73A|TRIML2_ENST00000326754.3_Missense_Mutation_p.S23A	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	23							ligase activity	p.S23A(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TTCTCCCTCGATGTGTTCAAT	0.408000													10	98					0	0	0.008291	0	0
HTR1A	3350	broad.mit.edu	37	5	63256927	63256927	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:63256927G>A	ENST00000323865.3	-	1	853	c.620C>T	c.(619-621)cCg>cTg	p.P207L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	207					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.P207L(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GAGCAGCAGCGGGATGTAGAA	0.587000													5	186					0	0	0.000602	0	0
SYNE1	23345	broad.mit.edu	37	6	152466647	152466647	+	Silent	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:152466647T>C	ENST00000448038.1	-	138	25408	c.24807A>G	c.(24805-24807)acA>acG	p.T8269T	SYNE1_ENST00000423061.1_Silent_p.T8269T|SYNE1_ENST00000539504.1_Intron|SYNE1_ENST00000356820.4_Intron|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000354674.4_Silent_p.T495T|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000367255.5_Intron			Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8324					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.T8269T(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGCATTTTCTGTGAGTTTTA	0.478000										HNSCC(10;0.0054)			5	42					0	0	0.001168	0	0
PCF11	51585	broad.mit.edu	37	11	82893518	82893518	+	Silent	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:82893518T>C	ENST00000298281.4	+	14	4853	c.4401T>C	c.(4399-4401)atT>atC	p.I1467I	RP11-727A23.4_ENST00000528133.1_RNA	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1467					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		p.I1467I(1)|p.I1566I(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAAATGCTATTAGAGTAGATG	0.313000													11	30					0	0	0.008291	0	0
IL17RE	132014	broad.mit.edu	37	3	9952838	9952838	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:9952838C>T	ENST00000454190.2	+	10	1091	c.1006C>T	c.(1006-1008)Cac>Tac	p.H336Y	IL17RE_ENST00000295980.3_Missense_Mutation_p.H336Y|IL17RE_ENST00000383814.3_Missense_Mutation_p.H336Y|IL17RE_ENST00000421412.1_Missense_Mutation_p.H369Y	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	336						cytoplasm|extracellular region|integral to membrane	receptor activity	p.H336Y(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)		GGTGGACCTGCACCCCCAGCT	0.542000													15	142					0	0	0.008871	0	0
STK4	6789	broad.mit.edu	37	20	43623806	43623806	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr20:43623806T>C	ENST00000372806.3	+	6	696	c.601T>C	c.(601-603)Tac>Cac	p.Y201H	STK4_ENST00000499879.2_Missense_Mutation_p.Y146H|STK4_ENST00000372801.1_Missense_Mutation_p.Y201H|STK4_ENST00000396731.4_Missense_Mutation_p.Y201H	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	201	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	p.Y201H(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				GGAAATTGGATACAACTGTGT	0.448000													10	110					0	0	0.006214	0	0
OR51I1	390063	broad.mit.edu	37	11	5462206	5462206	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:5462206T>A	ENST00000380211.1	-	1	538	c.539A>T	c.(538-540)tAc>tTc	p.Y180F	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y180F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGAGACAGTAGGAGTGATG	0.448000													6	34					0	0	0.003080	0	0
USH2A	7399	broad.mit.edu	37	1	215802171	215802171	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:215802171G>T	ENST00000366943.2	-	72	15962	c.15576C>A	c.(15574-15576)ggC>ggA	p.G5192G	USH2A_ENST00000307340.3_Silent_p.G5168G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5168					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G5168G(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACTGTTGTGGCCCATGATGG	0.493000										HNSCC(13;0.011)			36	71					6.70999e-13	1.11186e-12	0.004289	1	0
NPSR1	387129	broad.mit.edu	37	7	34888198	34888198	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:34888198G>T	ENST00000360581.1	+	8	1076	c.948G>T	c.(946-948)caG>caT	p.Q316H	NPSR1_ENST00000359791.1_Missense_Mutation_p.Q316H|NPSR1_ENST00000531252.1_Missense_Mutation_p.Q305H|NPSR1_ENST00000381539.3_Missense_Mutation_p.Q316H|NPSR1_ENST00000381542.1_Missense_Mutation_p.Q250H	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	316						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.Q316H(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGATCATTCAGAACCTGCCAG	0.493000													111	169					2.18537e-64	4.11625e-64	0.003610	1	0
COL6A3	1293	broad.mit.edu	37	2	238285757	238285757	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:238285757T>C	ENST00000295550.4	-	7	3180	c.2728A>G	c.(2728-2730)Acg>Gcg	p.T910A	COL6A3_ENST00000392003.2_Missense_Mutation_p.T503A|COL6A3_ENST00000353578.4_Missense_Mutation_p.T704A|COL6A3_ENST00000347401.3_Missense_Mutation_p.T709A|COL6A3_ENST00000346358.4_Missense_Mutation_p.T710A|COL6A3_ENST00000409809.1_Missense_Mutation_p.T704A|COL6A3_ENST00000392004.3_Missense_Mutation_p.T704A|COL6A3_ENST00000472056.1_Missense_Mutation_p.T303A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	910	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.T704A(1)|p.T910A(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTTTGCCCGTCTTGATCTTC	0.517000													8	53					0	0	0.003080	0	0
TPR	7175	broad.mit.edu	37	1	186322924	186322924	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:186322924C>T	ENST00000367478.3	-	18	2526	c.2230G>A	c.(2230-2232)Gag>Aag	p.E744K	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	744					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.H744_E745>QK(1)|p.H743_E744>QK(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGATTTCTCTCATGAAGTGAT	0.358000			T	NTRK1	papillary thyroid								4	121					0	0	0.009096	0	0
CSMD3	114788	broad.mit.edu	37	8	113241022	113241022	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:113241022T>G	ENST00000297405.5	-	70	11171	c.10927A>C	c.(10927-10929)Ata>Cta	p.I3643L	CSMD3_ENST00000343508.3_Missense_Mutation_p.I3603L|CSMD3_ENST00000455883.2_Missense_Mutation_p.I3474L|CSMD3_ENST00000352409.3_Missense_Mutation_p.I3573L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3643						integral to membrane|plasma membrane		p.I3643L(1)|p.I3603L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTGCAAATATAAGTGCAAAA	0.308000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	84					0	0	0.003330	0	0
INPP4B	8821	broad.mit.edu	37	4	143081565	143081565	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:143081565C>T	ENST00000513000.1	-	18	1942	c.1509G>A	c.(1507-1509)gtG>gtA	p.V503V	INPP4B_ENST00000262992.4_Silent_p.V503V|INPP4B_ENST00000308502.4_Silent_p.V503V|INPP4B_ENST00000509777.1_Silent_p.V503V|INPP4B_ENST00000508116.1_Silent_p.V503V	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	503					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.V503V(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GCCCTCTCATCACTGGGGGTT	0.498000													20	121					0	0	0.010504	0	0
SCML4	256380	broad.mit.edu	37	6	108042097	108042097	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:108042097C>A	ENST00000369022.2	-	5	818	c.609G>T	c.(607-609)ttG>ttT	p.L203F	SCML4_ENST00000369025.2_Missense_Mutation_p.L19F|SCML4_ENST00000369020.3_Missense_Mutation_p.L261F|SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369021.3_Missense_Mutation_p.L232F			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L232F(2)|p.L261F(2)		endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		AGGAGGGGTGCAAGGAGCCCC	0.622000													5	49					0.000602214	0.000704477	0.000602	1	0
GRAMD1B	57476	broad.mit.edu	37	11	123471196	123471196	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:123471196G>T	ENST00000529750.1	+	7	888	c.561G>T	c.(559-561)ggG>ggT	p.G187G	GRAMD1B_ENST00000322282.7_Silent_p.G187G|GRAMD1B_ENST00000456860.2_Silent_p.G194G	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	187						integral to membrane		p.G187G(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CTTCGTTTGGGGCCCGGGATA	0.418000													14	24					0.00074312	0.000861186	0.006122	1	0
KLK13	26085	broad.mit.edu	37	19	51560016	51560016	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:51560016G>A	ENST00000595793.1	-	5	704	c.662C>T	c.(661-663)cCc>cTc	p.P221L	KLK13_ENST00000595547.1_Missense_Mutation_p.P148L|KLK13_ENST00000335422.3_Missense_Mutation_p.P69L	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	221	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity	p.P221L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		ACAGACCAGGGGGCCCCCAGA	0.582000													8	42					0	0	0.003080	0	0
EPHA3	2042	broad.mit.edu	37	3	89390204	89390204	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:89390204C>A	ENST00000336596.2	+	4	1178	c.953C>A	c.(952-954)cCa>cAa	p.P318Q	EPHA3_ENST00000452448.2_Missense_Mutation_p.P318Q|EPHA3_ENST00000494014.1_Missense_Mutation_p.P318Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	318	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding	p.P318Q(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAAGACCCTCCATCCATGGCT	0.443000										TSP Lung(6;0.00050)			18	137					5.03518e-11	8.05629e-11	0.007413	1	0
NUP85	79902	broad.mit.edu	37	17	73229160	73229160	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:73229160A>G	ENST00000447371.2	+	15	1442	c.1018A>G	c.(1018-1020)Agg>Ggg	p.R340G	NUP85_ENST00000540768.1_Missense_Mutation_p.R111G|NUP85_ENST00000541827.1_Missense_Mutation_p.R462G|NUP85_ENST00000579324.1_Missense_Mutation_p.R396G|NUP85_ENST00000579298.1_Missense_Mutation_p.R463G|NUP85_ENST00000245544.4_Missense_Mutation_p.R508G			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	508					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	p.R508G(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CAGGTTCCTCAGGGATTACTG	0.587000													3	114					0	0	0.004672	0	0
CSMD2	114784	broad.mit.edu	37	1	34174722	34174722	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:34174722C>A	ENST00000373381.4	-	22	3719	c.3543G>T	c.(3541-3543)agG>agT	p.R1181S	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.R54S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1141	CUB 7.					integral to membrane|plasma membrane	protein binding	p.R1141S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTTCGAATGCCCTGGCTTTCA	0.438000													12	81					5.50884e-06	7.26698e-06	0.001368	1	0
HPSE2	60495	broad.mit.edu	37	10	100995424	100995424	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:100995424G>C	ENST00000370552.3	-	1	195	c.136C>G	c.(136-138)Ccc>Gcc	p.P46A	HPSE2_ENST00000404542.1_Missense_Mutation_p.P46A|HPSE2_ENST00000370546.1_Missense_Mutation_p.P46A|HPSE2_ENST00000370549.1_Missense_Mutation_p.P46A	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	46					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	p.P46A(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ACAGGCAAGGGTCTCCTGTCT	0.572000													21	161					0	0	0.001882	0	0
MEGF10	84466	broad.mit.edu	37	5	126769092	126769092	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:126769092G>A	ENST00000274473.6	+	15	1998	c.1731G>A	c.(1729-1731)tgG>tgA	p.W577*	MEGF10_ENST00000503335.2_Nonsense_Mutation_p.W577*	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	577	EGF-like 11.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.W577*(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGGGACGCTGGGGCCCCAACT	0.577000													13	60					0	0	0.001855	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187698752	187698752	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:187698752G>C	ENST00000295131.2	-	6	788	c.749C>G	c.(748-750)aCc>aGc	p.T250S		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	250					apoptosis		zinc ion binding	p.T250S(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TATGCATTCGGTACACCTAAA	0.368000													4	32					0	0	0.009096	0	0
YIPF5	81555	broad.mit.edu	37	5	143545042	143545042	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:143545042C>A	ENST00000274496.5	-	3	371	c.237G>T	c.(235-237)caG>caT	p.Q79H	YIPF5_ENST00000513112.1_Missense_Mutation_p.Q25H|YIPF5_ENST00000448443.2_Missense_Mutation_p.Q79H	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	79	Interaction with Sec23.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane		p.Q79H(1)		large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CATAGAAAGGCTGAGGTGAAG	0.448000													13	81					0.00400662	0.00446916	0.004007	1	0
PPARGC1A	10891	broad.mit.edu	37	4	23816048	23816048	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:23816048T>A	ENST00000264867.2	-	8	1177	c.1058A>T	c.(1057-1059)gAg>gTg	p.E353V	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	353					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	p.E353V(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGCATACAACTCGGATTGCTC	0.532000													21	139					0	0	0.001882	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													4	56					0.00024832	0.000297984	0.009096	1	0
PTPRB	5787	broad.mit.edu	37	12	71029809	71029809	+	Silent	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:71029809A>G	ENST00000334414.6	-	2	137	c.93T>C	c.(91-93)tgT>tgC	p.C31C	PTPRB_ENST00000550358.1_Silent_p.C31C|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Silent_p.C30C	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.C31C(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTTTGAAAAGACACTGTTGTT	0.423000													4	20					0	0	0.009096	0	0
CYLC1	1538	broad.mit.edu	37	X	83129211	83129211	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:83129211T>C	ENST00000329312.4	+	4	1532	c.1495T>C	c.(1495-1497)Tca>Cca	p.S499P		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	499					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	p.H498_S499>QP(1)|p.H497_S498>QP(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CAAGAAACACTCAAAGGAAAA	0.353000													6	6					0	0	0.001168	0	0
NPBWR1	2831	broad.mit.edu	37	8	53853210	53853210	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:53853210G>T	ENST00000331251.3	+	1	2220	c.743G>T	c.(742-744)cGg>cTg	p.R248L		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	248					synaptic transmission	plasma membrane	opioid receptor activity|protein binding	p.R248L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GCCAAGAAGCGGGTGACCTTC	0.672000													3	16					0.004672	0.00511925	0.004672	1	0
CHRM1	1128	broad.mit.edu	37	11	62677634	62677634	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:62677634G>A	ENST00000306960.3	-	2	1480	c.939C>T	c.(937-939)gcC>gcT	p.A313A	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	313					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding	p.A313A(1)		large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	GCTTGGTGGGGGCCTGTGCCT	0.617000													6	76					0	0	0.001168	0	0
DLGAP1	9229	broad.mit.edu	37	18	3534268	3534268	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:3534268C>T	ENST00000315677.3	-	10	2998	c.2403G>A	c.(2401-2403)caG>caA	p.Q801Q	DLGAP1_ENST00000584874.1_Silent_p.Q801Q|DLGAP1_ENST00000400150.3_Silent_p.Q517Q|DLGAP1_ENST00000539435.1_Silent_p.Q509Q|DLGAP1_ENST00000534970.1_Silent_p.Q485Q|DLGAP1_ENST00000515196.2_Silent_p.Q801Q|DLGAP1_ENST00000581527.1_Silent_p.Q801Q|DLGAP1_ENST00000400155.1_Silent_p.Q507Q|DLGAP1_ENST00000400145.2_Silent_p.Q499Q|DLGAP1_ENST00000400147.2_Silent_p.Q499Q|DLGAP1_ENST00000400149.3_Silent_p.Q491Q|DLGAP1_ENST00000581699.1_Silent_p.Q507Q	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	801					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.Q509Q(1)|p.Q801Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CTCGCTCTGCCTGGAGAAGCT	0.587000													10	26					0	0	0.000978	0	0
UNC13A	23025	broad.mit.edu	37	19	17756920	17756920	+	Splice_Site	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:17756920A>T	ENST00000428389.2	-	19	2308	c.2308_splice	c.e19-1	p.V770_splice	UNC13A_ENST00000551649.1_Splice_Site_p.V682_splice|UNC13A_ENST00000252773.7_Splice_Site_p.V682_splice|UNC13A_ENST00000550896.1_Splice_Site_p.V680_splice|UNC13A_ENST00000519716.2_Splice_Site_p.V682_splice|UNC13A_ENST00000552293.1_Splice_Site_p.V682_splice			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	682					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.V682E(1)|p.V770E(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGCGCAGACCACTGGAAGACA	0.567000													3	18					0	0	0.009096	0	0
SYNE1	23345	broad.mit.edu	37	6	152527394	152527394	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:152527394A>C	ENST00000367255.5	-	126	23529	c.22928T>G	c.(22927-22929)tTg>tGg	p.L7643W	SYNE1_ENST00000448038.1_Missense_Mutation_p.L7572W|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7572W|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2167W|SYNE1_ENST00000265368.4_Missense_Mutation_p.L7643W|SYNE1_ENST00000341594.5_Missense_Mutation_p.L7255W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7643					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.L7643W(2)|p.L7572W(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCGGCCTGCAAGGCGGCCTC	0.507000										HNSCC(10;0.0054)			8	40					0	0	0.004482	0	0
OR5I1	10798	broad.mit.edu	37	11	55703126	55703126	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:55703126T>A	ENST00000301532.3	-	1	750	c.751A>T	c.(751-753)Acg>Tcg	p.T251S		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T251S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGGTAGATCGTCACTGAAGTC	0.428000													3	30					0	0	0.009096	0	0
POTEG	404785	broad.mit.edu	37	14	19553587	19553587	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:19553587C>A	ENST00000409832.3	+	1	223	c.171C>A	c.(169-171)ctC>ctA	p.L57L		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	57								p.L57L(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGAAGACACTCAGGAGCAAGA	0.617000													16	343					3.01185e-09	4.50868e-09	0.003954	1	0
CPVL	54504	broad.mit.edu	37	7	29111439	29111439	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:29111439G>T	ENST00000409850.1	-	13	1460	c.814C>A	c.(814-816)Cat>Aat	p.H272N	CPVL_ENST00000396276.3_Missense_Mutation_p.H272N|CPVL_ENST00000265394.5_Missense_Mutation_p.H272N			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	272					proteolysis		protein binding|serine-type carboxypeptidase activity	p.H272N(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						ATGCATTCATGGCACTGCTTC	0.458000													55	88					2.01807e-28	3.73493e-28	0.003610	1	0
ADCY6	112	broad.mit.edu	37	12	49172026	49172026	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:49172026C>A	ENST00000307885.4	-	2	1573	c.879G>T	c.(877-879)gtG>gtT	p.V293V	ADCY6_ENST00000357869.3_Silent_p.V293V|ADCY6_ENST00000550422.1_Silent_p.V293V	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	293					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.V293V(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GGAACAGCAGCACATTGGCAC	0.572000													6	42					0.00198382	0.0022363	0.001984	1	0
KCND3	3752	broad.mit.edu	37	1	112524479	112524479	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:112524479C>A	ENST00000369697.1	-	1	939	c.870G>T	c.(868-870)cgG>cgT	p.R290R	KCND3_ENST00000302127.4_Silent_p.R290R|KCND3_ENST00000315987.2_Silent_p.R290R			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	290						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	p.R290R(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CGCGGAAGACCCGGAGCGTGA	0.597000													5	54					0.000602214	0.000704477	0.000602	1	0
DDX3X	1654	broad.mit.edu	37	X	41203341	41203341	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:41203341C>T	ENST00000399959.2	+	9	1679	c.824C>T	c.(823-825)aCg>aTg	p.T275M	DDX3X_ENST00000542215.1_Silent_p.N290N|DDX3X_ENST00000457138.2_Missense_Mutation_p.T259M|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	275	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	p.T275M(2)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTAGCACCAACGAGAGAGTTG	0.368000										HNSCC(61;0.18)			7	14					0	0	0.003080	0	0
SLC14A1	6563	broad.mit.edu	37	18	43310394	43310394	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:43310394T>C	ENST00000321925.4	+	3	341	c.109T>C	c.(109-111)Tat>Cat	p.Y37H	SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000415427.3_Missense_Mutation_p.Y93H|SLC14A1_ENST00000589700.1_Missense_Mutation_p.Y37H|SLC14A1_ENST00000535474.1_Intron|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000436407.3_Missense_Mutation_p.Y93H|SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000586142.1_Missense_Mutation_p.Y37H	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	37						integral to plasma membrane	urea transmembrane transporter activity	p.Y37L(1)|p.Y93L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						AGCTCTTGGCTATGTCACCGG	0.483000													11	62					0	0	0.000978	0	0
BRWD3	254065	broad.mit.edu	37	X	80001181	80001181	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:80001181G>T	ENST00000373275.4	-	7	694	c.478C>A	c.(478-480)Cat>Aat	p.H160N		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	160								p.H160N(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GGGAAAATATGACCAAAGCGA	0.398000													7	27					5.18039e-06	6.87025e-06	0.003080	1	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74801830	74801830	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:74801830G>C	ENST00000370895.1	+	9	1017	c.982G>C	c.(982-984)Gat>Cat	p.D328H	FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.D328H|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.D328H|TNNI3K_ENST00000326637.3_Missense_Mutation_p.D227H|TNNI3K_ENST00000370891.2_Missense_Mutation_p.D328H			Q59H18	TNI3K_HUMAN		227						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	p.D227H(1)									CAGCAAAGCAGATGGTAAGAT	0.348000													8	35					0	0	0.003080	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515678	140515678	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:140515678C>A	ENST00000231134.5	+	1	879	c.662C>A	c.(661-663)cCc>cAc	p.P221H		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		221	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.P221H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGGCTCCGCCCAGGTCCGGG	0.557000													18	102					5.3912e-06	7.13711e-06	0.006122	1	0
EXOSC4	54512	broad.mit.edu	37	8	145135259	145135259	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:145135259G>A	ENST00000316052.5	+	3	596	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	EXOSC4_ENST00000525936.1_Missense_Mutation_p.R122H	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	165					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	p.V165M(1)		lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCTGGCTTCGTGGACGGCAC	0.637000													7	56					0	0	0.001984	0	0
FOXB2	442425	broad.mit.edu	37	9	79634849	79634849	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:79634849C>T	ENST00000376708.1	+	1	279	c.279C>T	c.(277-279)tgC>tgT	p.C93C		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	93					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.C93C(3)		breast(1)|lung(8)|ovary(1)	10						ACCCCGACTGCGGGGACATGT	0.642000													6	23					0	0	0.003080	0	0
SLC26A7	115111	broad.mit.edu	37	8	92346639	92346639	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:92346639G>A	ENST00000276609.3	+	6	998	c.759G>A	c.(757-759)agG>agA	p.R253R	SLC26A7_ENST00000523719.1_Silent_p.R253R|SLC26A7_ENST00000309536.2_Silent_p.R253R	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	253						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.R253R(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGTTTAAAAGGAAAATTAAAG	0.363000													17	65					0	0	0.004990	0	0
TLR4	7099	broad.mit.edu	37	9	120476002	120476002	+	Missense_Mutation	SNP	C	C	A	rs34953464		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:120476002C>A	ENST00000355622.6	+	3	1697	c.1596C>A	c.(1594-1596)ttC>ttA	p.F532L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.F492L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	532					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.F532L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ACAACAACTTCTTTTCATTGG	0.423000													8	46					0.000157383	0.000191329	0.003080	1	0
DNAH2	146754	broad.mit.edu	37	17	7673701	7673701	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:7673701C>T	ENST00000572933.1	+	25	5533	c.4073C>T	c.(4072-4074)gCa>gTa	p.A1358V	DNAH2_ENST00000389173.2_Missense_Mutation_p.A1358V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1358	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A1358V(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCTGCTTCAGCAACTAAAGAG	0.527000													7	45					0	0	0.001984	0	0
PXDN	7837	broad.mit.edu	37	2	1653320	1653320	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:1653320G>T	ENST00000252804.4	-	17	2282	c.2232C>A	c.(2230-2232)caC>caA	p.H744Q		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	744					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.H744Q(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGGTGCCGTCGTGCGTCCGGT	0.612000													14	93					1.5739e-10	2.48089e-10	0.004007	1	0
C1orf173	127254	broad.mit.edu	37	1	75039035	75039035	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:75039035C>T	ENST00000326665.5	-	14	2577	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	787	Glu-rich.							p.D787N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGTACTATGTCAGCATCTCTG	0.522000													17	97					0	0	0.004007	0	0
OR2L13	284521	broad.mit.edu	37	1	248263100	248263100	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:248263100G>T	ENST00000366478.2	+	3	760	c.423G>T	c.(421-423)gtG>gtT	p.V141V	OR2L13_ENST00000358120.2_Silent_p.V141V	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.V141V(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGATGTGTGTGAAGATGATTG	0.493000													45	185					7.88023e-25	1.44406e-24	0.003610	1	0
CAPN6	827	broad.mit.edu	37	X	110497517	110497517	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:110497517C>T	ENST00000324068.1	-	3	447	c.280G>A	c.(280-282)Gag>Aag	p.E94K	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	94	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	p.E94K(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CAATGAGACTCCTGAACAGCC	0.458000													23	62					0	0	0.003954	0	0
SOX10	6663	broad.mit.edu	37	22	38369875	38369875	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr22:38369875G>T	ENST00000396884.2	-	4	1310	c.1028C>A	c.(1027-1029)cCc>cAc	p.P343H	SOX10_ENST00000360880.2_Missense_Mutation_p.P343H|POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	343						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity	p.P343N(1)		NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					TGAGACCGTGGGCAGAGCCAC	0.672000													7	25					1.06961e-07	1.49867e-07	0.003080	1	0
RYR2	6262	broad.mit.edu	37	1	237664013	237664013	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:237664013T>A	ENST00000366574.2	+	21	2523	c.2206T>A	c.(2206-2208)Tgt>Agt	p.C736S	RYR2_ENST00000542537.1_Missense_Mutation_p.C720S|RYR2_ENST00000360064.6_Missense_Mutation_p.C734S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	736	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.C734S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCCAATAGGTTGTATTGCTCG	0.398000													69	274					0	0	0.003610	0	0
DOCK2	1794	broad.mit.edu	37	5	169129310	169129310	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:169129310A>T	ENST00000256935.8	+	14	1342	c.1262A>T	c.(1261-1263)gAt>gTt	p.D421V		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	421	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.D421V(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCTCAGGGGATGTCAGGAAC	0.498000											OREG0017017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	76					0	0	0.006214	0	0
KLHL1	57626	broad.mit.edu	37	13	70370930	70370930	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:70370930T>A	ENST00000377844.4	-	7	2338	c.1579A>T	c.(1579-1581)Aat>Tat	p.N527Y	KLHL1_ENST00000545028.1_Missense_Mutation_p.N334Y	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	527					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.N527Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTTTTGGGATTGTAACATTCA	0.388000													10	66					0	0	0.006214	0	0
TLR10	81793	broad.mit.edu	37	4	38777210	38777210	+	Translation_Start_Site	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:38777210A>G	ENST00000308973.4	-	4	607	c.2T>C	c.(1-3)aTg>aCg	p.M1T	TLR10_ENST00000361424.2_Start_Codon_SNP_p.M1T|TLR10_ENST00000508334.1_Start_Codon_SNP_p.M1T|TLR10_ENST00000506111.1_Start_Codon_SNP_p.M1T	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	1					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	p.M1T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GATGAGTCTCATTGTATTTCC	0.343000													10	33					0	0	0.006214	0	0
DLG5	9231	broad.mit.edu	37	10	79601669	79601669	+	Silent	SNP	C	C	A	rs138228867		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:79601669C>A	ENST00000372391.2	-	7	1412	c.1407G>T	c.(1405-1407)gcG>gcT	p.A469A	DLG5_ENST00000372388.2_Silent_p.A469A	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	469					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	p.A469A(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCTCATTGGCCGCCTTCTTCT	0.617000													6	46					0.00307968	0.00345072	0.003080	1	0
TTC24	164118	broad.mit.edu	37	1	156554984	156554984	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:156554984G>C	ENST00000368236.3	+	8	1453	c.1417G>C	c.(1417-1419)Gca>Cca	p.A473P	TTC24_ENST00000495690.1_3'UTR|TTC24_ENST00000368237.3_Missense_Mutation_p.A473P	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	473							binding	p.A473P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAGAGGTCGGCAAACGTTCC	0.562000													3	43					0	0	0.009096	0	0
ZNF534	147658	broad.mit.edu	37	19	52941164	52941164	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:52941164A>C	ENST00000332323.6	+	4	551	c.490A>C	c.(490-492)Agt>Cgt	p.S164R	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.S151R|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S164R(1)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						AGTTCAAATAAGTTTTTTCAG	0.323000													9	42					0	0	0.004482	0	0
TMEM59L	25789	broad.mit.edu	37	19	18729267	18729267	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:18729267C>T	ENST00000600490.1	+	8	1050	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L	TMEM59L_ENST00000262817.3_Silent_p.L289L			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	289						Golgi membrane|integral to membrane|membrane fraction		p.L289L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CTGCTCCACCCTGGTGACCGC	0.677000													3	12					0	0	0.004672	0	0
NACA	4666	broad.mit.edu	37	12	57110843	57110843	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:57110843T>A	ENST00000454682.1	-	3	4752	c.4471A>T	c.(4471-4473)Aaa>Taa	p.K1491*	NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGGCCTTTTTGGGAGAGGAA	0.617000			T	BCL6	NHL								7	56					0	0	0.001984	0	0
CD48	962	broad.mit.edu	37	1	160654959	160654959	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:160654959C>T	ENST00000368045.3	-	2	142	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	CD48_ENST00000368046.3_Missense_Mutation_p.V35M			P09326	CD48_HUMAN	CD48 molecule	35	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	p.V35M(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCGGAGACCACGGTCATATGT	0.512000													6	42					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179424097	179424097	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:179424097C>A	ENST00000589042.1	-	326	86986	c.86762G>T	c.(86761-86763)gGa>gTa	p.G28921V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G27280V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G26353V|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20048V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G19856V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G19981V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27280	Ig-like 133.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G26353V(1)|p.G19981V(1)|p.G19856V(1)|p.G20048V(1)|p.G26351V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCATTTTCTCCAGAGACTCT	0.378000													11	186					1.5842e-08	2.30204e-08	0.001855	1	0
OR6N1	128372	broad.mit.edu	37	1	158736362	158736362	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:158736362C>A	ENST00000335094.2	-	1	130	c.111G>T	c.(109-111)atG>atT	p.M37I		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M37I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CCAACACAGTCATGAGGTAAA	0.507000													5	42					3.59834e-05	4.56854e-05	0.001168	1	0
STARD13	90627	broad.mit.edu	37	13	33739517	33739517	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:33739517C>T	ENST00000336934.5	-	3	396	c.280G>A	c.(280-282)Gat>Aat	p.D94N	STARD13_ENST00000487412.1_5'UTR|STARD13_ENST00000399365.3_5'UTR|STARD13_ENST00000255486.4_Missense_Mutation_p.D86N	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	94	SAM.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.D94N(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AAATCATGATCATTCTTGACA	0.368000													8	56					0	0	0.004482	0	0
ARMC4	55130	broad.mit.edu	37	10	28228927	28228927	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:28228927G>A	ENST00000305242.5	-	14	2088	c.1996C>T	c.(1996-1998)Cgg>Tgg	p.R666W	ARMC4_ENST00000537576.1_Missense_Mutation_p.R358W|ARMC4_ENST00000545014.1_Missense_Mutation_p.R191W	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	666							binding	p.R666W(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATTGCAGCCCGGTAGTTTTCC	0.373000													5	38					0	0	0.000602	0	0
RYR2	6262	broad.mit.edu	37	1	237620007	237620007	+	Silent	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:237620007C>G	ENST00000366574.2	+	16	1901	c.1584C>G	c.(1582-1584)tcC>tcG	p.S528S	RYR2_ENST00000542537.1_Silent_p.S512S|RYR2_ENST00000360064.6_Silent_p.S526S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	528					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.S526S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTGGAAATCCATTCTGAATT	0.443000													15	87					0	0	0.002450	0	0
ABCB4	5244	broad.mit.edu	37	7	87074240	87074240	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:87074240A>T	ENST00000265723.4	-	10	1168	c.1057T>A	c.(1057-1059)Tgt>Agt	p.C353S	ABCB4_ENST00000545634.1_Missense_Mutation_p.C353S|ABCB4_ENST00000453593.1_Missense_Mutation_p.C353S|ABCB4_ENST00000358400.3_Missense_Mutation_p.C353S|ABCB4_ENST00000359206.3_Missense_Mutation_p.C353S	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	353	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.C353S(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GCATCAATACATGGGGCAGCC	0.353000													6	17					0	0	0.001168	0	0
KIAA1244	57221	broad.mit.edu	37	6	138629992	138629992	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:138629992G>T	ENST00000251691.4	+	24	4256	c.4090G>T	c.(4090-4092)Gga>Tga	p.G1364*		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1364					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.G1293*(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GTTTGTCAAAGGACTGGGTAA	0.473000													14	145					1.05317e-09	1.60565e-09	0.002450	1	0
SCN10A	6336	broad.mit.edu	37	3	38760296	38760296	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:38760296C>A	ENST00000449082.2	-	20	3528	c.3529G>T	c.(3529-3531)Gac>Tac	p.D1177Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1177					sensory perception	voltage-gated sodium channel complex		p.D1177Y(2)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGCTTCTGGTCCAGGTAATAG	0.532000													10	25					2.17888e-05	2.80464e-05	0.006214	1	0
OR5T1	390155	broad.mit.edu	37	11	56043396	56043396	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:56043396G>T	ENST00000313033.2	+	1	368	c.282G>T	c.(280-282)ttG>ttT	p.L94F		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L94_V95>FF(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CAAAAATGTTGGTCAATTTCC	0.373000													32	101					8.88839e-20	1.59349e-19	0.002096	1	0
USH2A	7399	broad.mit.edu	37	1	216420237	216420237	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:216420237G>T	ENST00000366943.2	-	13	2885	c.2499C>A	c.(2497-2499)aaC>aaA	p.N833K	USH2A_ENST00000366942.3_Missense_Mutation_p.N833K|USH2A_ENST00000307340.3_Missense_Mutation_p.N833K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	833	Laminin EGF-like 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.N833K(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTAGGTAGAAGTTTCCCTCCA	0.463000										HNSCC(13;0.011)			16	116					4.7546e-09	7.07485e-09	0.004007	1	0
TAS2R41	259287	broad.mit.edu	37	7	143175790	143175790	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:143175790C>A	ENST00000408916.1	+	1	825	c.825C>A	c.(823-825)tgC>tgA	p.C275*	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	275					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.C275*(1)		endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TCTACCTGTGCATATCTGTCC	0.488000													4	70					0.000602214	0.000704477	0.000602	1	0
NOVA1	4857	broad.mit.edu	37	14	26917372	26917372	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:26917372T>A	ENST00000539517.2	-	5	1634	c.1317A>T	c.(1315-1317)aaA>aaT	p.K439N	NOVA1_ENST00000465357.2_Missense_Mutation_p.K415N|NOVA1_ENST00000267422.7_Missense_Mutation_p.K317N	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	442	KH 3.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	p.K439N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TTTTCCCTCCTTTGCCAAGTA	0.443000													3	38					0	0	0.009096	0	0
OR5T1	390155	broad.mit.edu	37	11	56043397	56043397	+	Missense_Mutation	SNP	G	G	T	rs113612396	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:56043397G>T	ENST00000313033.2	+	1	369	c.283G>T	c.(283-285)Gtc>Ttc	p.V95F		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L94_V95>FF(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AAAAATGTTGGTCAATTTCCT	0.378000													34	103					5.91797e-21	1.06868e-20	0.002445	1	0
SYNE1	23345	broad.mit.edu	37	6	152774700	152774700	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:152774700C>T	ENST00000495090.2	-	12	1757	c.1749G>A	c.(1747-1749)gaG>gaA	p.E583E	SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000413186.2_Intron|SYNE1_ENST00000367253.4_Intron|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000367248.3_Intron|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000367255.5_Intron			Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3592					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCACGGTGTCTCCGTCCTGT	0.483000										HNSCC(10;0.0054)			28	136					0	0	0.009535	0	0
KDM1B	221656	broad.mit.edu	37	6	18207730	18207730	+	Silent	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:18207730A>G	ENST00000388870.2	+	16	2002	c.1761A>G	c.(1759-1761)gcA>gcG	p.A587A	KDM1B_ENST00000297792.5_Silent_p.A355A|KDM1B_ENST00000397244.1_Silent_p.A355A|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	587					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	p.A355A(1)		breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						AAAAACTGGCAGAAGGGCTTG	0.517000													14	43					0	0	0.002450	0	0
PRKACB	5567	broad.mit.edu	37	1	84650823	84650823	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:84650823G>T	ENST00000370689.2	+	5	641	c.377G>T	c.(376-378)gGg>gTg	p.G126V	PRKACB_ENST00000370685.3_Missense_Mutation_p.G173V|PRKACB_ENST00000394838.2_Missense_Mutation_p.G133V|PRKACB_ENST00000394839.2_Missense_Mutation_p.G96V|PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370680.1_Missense_Mutation_p.G132V|PRKACB_ENST00000370688.3_Missense_Mutation_p.G126V|PRKACB_ENST00000370682.3_Missense_Mutation_p.G130V	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	126	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding	p.G126V(2)|p.G133V(1)|p.G173V(1)		breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TATGTCCCTGGGGGTGAAATG	0.284000													43	124					3.19069e-20	5.73399e-20	0.003610	1	0
KIAA1468	57614	broad.mit.edu	37	18	59855222	59855222	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:59855222G>T	ENST00000256858.6	+	1	732	c.484G>T	c.(484-486)Gga>Tga	p.G162*	KIAA1468_ENST00000398130.2_Nonsense_Mutation_p.G162*			Q9P260	K1468_HUMAN	KIAA1468	162							binding	p.G162*(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TGGGGGCGCTGGAGGTCGGGA	0.642000											OREG0025032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	8					5.9392e-07	8.13769e-07	0.001168	1	0
ZNF432	9668	broad.mit.edu	37	19	52538203	52538203	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:52538203G>T	ENST00000594154.1	-	5	941	c.729C>A	c.(727-729)tcC>tcA	p.S243S	ZNF432_ENST00000221315.5_Silent_p.S243S			O94892	ZN432_HUMAN	zinc finger protein 432	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S243S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TGGACTTTCTGGAGAACACTT	0.388000													24	135					4.59853e-10	7.06881e-10	0.005443	1	0
THBS2	7058	broad.mit.edu	37	6	169637732	169637732	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:169637732A>C	ENST00000366787.3	-	9	1537	c.1288T>G	c.(1288-1290)Tgt>Ggt	p.C430G	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	430	TSP type-1 1.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.C430G(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGGGTGTCACACTTGCTCAGA	0.642000													5	45					0	0	0.000602	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561625	44561625	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:44561625C>T	ENST00000332567.4	-	1	363	c.11G>A	c.(10-12)gGg>gAg	p.G4E	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	4					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.G4E(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGTAGTGGACCCTGCCGCCAT	0.617000													4	29					0	0	0.009096	0	0
CASR	846	broad.mit.edu	37	3	121980463	121980463	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:121980463C>T	ENST00000498619.1	+	4	1019	c.581C>T	c.(580-582)gCc>gTc	p.A194V	CASR_ENST00000490131.1_Missense_Mutation_p.A194V|CASR_ENST00000296154.5_Missense_Mutation_p.A194V	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	194					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.A194V(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GAGCACCAGGCCACTGCCATG	0.532000													51	109					0	0	0.003610	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390452	8390452	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:8390452G>T	ENST00000471889.1	+	5	1284	c.899G>T	c.(898-900)cGg>cTg	p.R300L	SLC45A1_ENST00000289877.8_Missense_Mutation_p.R300L|SLC45A1_ENST00000377479.2_Missense_Mutation_p.R334L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	300					carbohydrate transport	integral to membrane	symporter activity	p.R300L(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGAGAAGCGGGCAGCCATG	0.687000													3	16					0.004672	0.00511925	0.004672	1	0
TYW3	127253	broad.mit.edu	37	1	75204454	75204454	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:75204454G>A	ENST00000370867.3	+	3	425	c.336G>A	c.(334-336)ttG>ttA	p.L112L	TYW3_ENST00000421739.2_Intron|TYW3_ENST00000457880.2_Intron|TYW3_ENST00000479111.1_3'UTR	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	112					tRNA processing		methyltransferase activity	p.L112L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GTCGACAATTGCAGGATGCAC	0.328000													5	42					0	0	0.000602	0	0
OR10V1	390201	broad.mit.edu	37	11	59481191	59481191	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:59481191G>T	ENST00000307552.2	-	1	146	c.128C>A	c.(127-129)gCt>gAt	p.A43D	STX3_ENST00000300150.7_5'UTR	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A43D(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						TGCAATTGTAGCATTTCCACC	0.443000													11	31					6.40141e-05	7.9643e-05	0.000978	1	0
NOX5	79400	broad.mit.edu	37	15	69328113	69328113	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:69328113C>G	ENST00000260364.5	+	8	1272	c.971C>G	c.(970-972)gCg>gGg	p.A324G	NOX5_ENST00000455873.3_Missense_Mutation_p.A307G|NOX5_ENST00000448182.3_Missense_Mutation_p.A296G|NOX5_ENST00000530406.2_Missense_Mutation_p.A314G|NOX5_ENST00000388866.3_Missense_Mutation_p.A342G			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	342	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	p.A324G(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CAGGCTCAGGCGGAGGCCAGC	0.612000													4	50					0	0	0.003080	0	0
SEMA7A	8482	broad.mit.edu	37	15	74709697	74709697	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:74709697T>G	ENST00000261918.4	-	6	1188	c.640A>C	c.(640-642)Acc>Ccc	p.T214P	SEMA7A_ENST00000543145.2_Missense_Mutation_p.T200P|SEMA7A_ENST00000542748.1_Missense_Mutation_p.T49P	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	214	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	p.T214P(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GTATCACTGGTGTACAGCTCA	0.587000													17	77					0	0	0.007413	0	0
GRB14	2888	broad.mit.edu	37	2	165365354	165365354	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:165365354C>A	ENST00000263915.3	-	7	1363	c.825G>T	c.(823-825)cgG>cgT	p.R275R	GRB14_ENST00000543549.1_Silent_p.R188R	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	275	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	p.R275R(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						ACTGCAAATGCCGCGGTTCCT	0.323000													7	75					0.00198382	0.0022363	0.001984	1	0
MAGEA12	4111	broad.mit.edu	37	X	151900601	151900601	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:151900601C>A	ENST00000393900.3	-	3	553	c.200G>T	c.(199-201)gGa>gTa	p.G67V	MAGEA12_ENST00000393869.3_Missense_Mutation_p.G67V|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.G67V	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	67								p.G67V(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGAGGCTCCCTGAGGACT	0.592000													25	42					9.86323e-18	1.73892e-17	0.003954	1	0
ALDH9A1	223	broad.mit.edu	37	1	165638193	165638193	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:165638193C>T	ENST00000354775.4	-	8	1481	c.1177G>A	c.(1177-1179)Gat>Aat	p.D393N	ALDH9A1_ENST00000538148.1_Missense_Mutation_p.D299N	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	369					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity	p.D369N(1)|p.D393N(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	TAATATCCATCCTTTAATTTG	0.299000													9	88					0	0	0.008291	0	0
ZNF292	23036	broad.mit.edu	37	6	87970078	87970078	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:87970078G>T	ENST00000369577.3	+	8	6774	c.6731G>T	c.(6730-6732)gGa>gTa	p.G2244V	ZNF292_ENST00000339907.4_Missense_Mutation_p.G2239V	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G2099V(1)|p.G2244V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CACGGGATTGGACTAAGGGCA	0.418000													11	63					0.000673444	0.000781657	0.008291	1	0
FLG	2312	broad.mit.edu	37	1	152285768	152285768	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:152285768G>T	ENST00000368799.1	-	3	1629	c.1594C>A	c.(1594-1596)Cac>Aac	p.H532N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	532	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H532N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGCTCGTGGTGGGATCCC	0.597000									Ichthyosis				56	513					1.93748e-29	3.59473e-29	0.003610	1	0
MDH1B	130752	broad.mit.edu	37	2	207619756	207619756	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:207619756C>A	ENST00000374412.3	-	5	1162	c.887G>T	c.(886-888)aGa>aTa	p.R296I	MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.R296I|MDH1B_ENST00000449792.1_Missense_Mutation_p.R198I	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	296					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	p.R296I(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CTTCAGTTTTCTGGCCAGTAT	0.428000													9	75					1.76689e-08	2.55753e-08	0.006214	1	0
ACTRT1	139741	broad.mit.edu	37	X	127185254	127185254	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:127185254T>A	ENST00000371124.3	-	1	1128	c.932A>T	c.(931-933)gAg>gTg	p.E311V		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	311						cytoplasm|cytoskeleton		p.E311V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GAGCCTTTCCTCCAGCCCAGG	0.502000													16	42					0	0	0.007413	0	0
ADCY2	108	broad.mit.edu	37	5	7773210	7773210	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:7773210G>A	ENST00000338316.4	+	18	2469	c.2380G>A	c.(2380-2382)Gag>Aag	p.E794K	ADCY2_ENST00000537121.1_Missense_Mutation_p.E614K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	794					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.E794K(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGTCTTATTTGAGAGGTGAGC	0.507000													4	72					0	0	0.000602	0	0
UBQLN1	29979	broad.mit.edu	37	9	86293365	86293365	+	Silent	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:86293365T>A	ENST00000376395.4	-	5	1384	c.861A>T	c.(859-861)gcA>gcT	p.A287A	UBQLN1_ENST00000257468.7_Silent_p.A287A	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	287					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	p.A287A(1)		breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						CCTGCTCTTGTGCAGCACTCA	0.458000													25	212					0	0	0.003954	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998956	8998956	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:8998956T>C	ENST00000310455.3	-	2	356	c.206A>G	c.(205-207)cAg>cGg	p.Q69R	PPP1R3B_ENST00000519699.1_Missense_Mutation_p.Q69R|RP11-10A14.3_ENST00000520017.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	69					glycogen metabolic process			p.Q69R(1)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		GGCCAGCCCCTGGTTGTCTGC	0.527000													9	60					0	0	0.008291	0	0
HNF4G	3174	broad.mit.edu	37	8	76456055	76456055	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:76456055C>T	ENST00000396423.2	+	2	222	c.98C>T	c.(97-99)gCc>gTc	p.A33V	HNF4G_ENST00000354370.1_5'UTR	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	0					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.A33F(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GATAGTTCTGCCCCAGAGACA	0.408000													4	36					0	0	0.009096	0	0
ZNF536	9745	broad.mit.edu	37	19	30935819	30935819	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:30935819C>A	ENST00000355537.3	+	2	1497	c.1350C>A	c.(1348-1350)agC>agA	p.S450R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.S450R(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGAGCCCAGCCAGCTCTATG	0.657000													7	19					0.000157383	0.000191329	0.003080	1	0
GNG12	55970	broad.mit.edu	37	1	68173365	68173365	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:68173365G>A	ENST00000370982.3	-	3	204	c.5C>T	c.(4-6)tCc>tTc	p.S2F		NM_018841.5	NP_061329.3	Q9UBI6	GBG12_HUMAN	guanine nucleotide binding protein (G protein), gamma 12	2					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity	p.S2F(1)		lung(3)	3						TGTTTTGCTGGACATCTTCAA	0.348000													35	237					0	0	0.003755	0	0
ANKRD17	26057	broad.mit.edu	37	4	73984548	73984548	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:73984548G>A	ENST00000358602.4	-	22	4161	c.4045C>T	c.(4045-4047)Cgt>Tgt	p.R1349C	ANKRD17_ENST00000509867.2_Missense_Mutation_p.R1236C|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.R1098C	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1349					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.R1349C(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCTTGTTACGTACATCAATA	0.428000													17	114					0	0	0.007413	0	0
CDH11	1009	broad.mit.edu	37	16	65016031	65016031	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:65016031T>A	ENST00000394156.3	-	8	1626	c.1173A>T	c.(1171-1173)gaA>gaT	p.E391D	CDH11_ENST00000268603.4_Missense_Mutation_p.E391D|CDH11_ENST00000566827.1_Missense_Mutation_p.E265D			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	391	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.E391D(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTTCTTGGACTTCGTGGATGT	0.498000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			23	86					0	0	0.003330	0	0
OVCH1	341350	broad.mit.edu	37	12	29648274	29648274	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:29648274C>A	ENST00000318184.5	-	4	397	c.398G>T	c.(397-399)cGt>cTt	p.R133L		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	133	Peptidase S1 1.		R -> C (in dbSNP:rs10843438).		proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.R133L(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CATATATTCACGGCTGTTGTA	0.373000													10	165					3.07112e-06	4.10955e-06	0.000978	1	0
TNPO1	3842	broad.mit.edu	37	5	72201204	72201204	+	Silent	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:72201204A>G	ENST00000337273.5	+	24	3090	c.2664A>G	c.(2662-2664)ttA>ttG	p.L888L	TNPO1_ENST00000506351.2_Silent_p.L880L|TNPO1_ENST00000523768.1_Silent_p.L838L|TNPO1_ENST00000454282.1_Silent_p.L838L	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	888					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	p.L880L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CTCTTCCCTTAAAAGAGCGTC	0.358000													21	127					0	0	0.010504	0	0
OR4C6	219432	broad.mit.edu	37	11	55433224	55433224	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:55433224C>A	ENST00000314259.3	+	1	611	c.582C>A	c.(580-582)ggC>ggA	p.G194G		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G194G(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ACATCCTGGGCCTCTTAGTTA	0.443000													31	84					1.06801e-11	1.74255e-11	0.009535	1	0
PSG5	5673	broad.mit.edu	37	19	43679578	43679578	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:43679578G>A	ENST00000404580.1	-	4	841	c.753C>T	c.(751-753)taC>taT	p.Y251Y	PSG5_ENST00000599812.1_Silent_p.Y344Y|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Silent_p.Y251Y|PSG5_ENST00000342951.6_Silent_p.Y251Y|PSG5_ENST00000366175.3_Silent_p.Y251Y			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	251	Ig-like C2-type 2.				female pregnancy	extracellular region		p.Y251Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CTCCTGAACGGTAATAGGTGA	0.478000													22	170					0	0	0.010504	0	0
ANKRD19P	138649	broad.mit.edu	37	9	95599576	95599576	+	RNA	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:95599576C>A	ENST00000473204.1	+	0	1657																											TCTGTGGGGCCGTGGCCCGGT	0.627000													9	26					0.00448238	0.00496264	0.004482	1	0
DDR2	4921	broad.mit.edu	37	1	162724645	162724645	+	Splice_Site	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:162724645G>T	ENST00000367922.2	+	6	855	c.417_splice	c.e6+1	p.Q139_splice	DDR2_ENST00000367921.3_Splice_Site_p.Q139_splice	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	139	F5/8 type C.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.Q139H(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ATGGGAAACAGGTAGGAAGAA	0.493000													10	35					4.68919e-08	6.68344e-08	0.008291	1	0
BNC2	54796	broad.mit.edu	37	9	16552658	16552658	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:16552658T>A	ENST00000380672.4	-	5	596	c.539A>T	c.(538-540)cAa>cTa	p.Q180L	BNC2_ENST00000545497.1_Missense_Mutation_p.Q85L|BNC2_ENST00000380666.2_Missense_Mutation_p.Q180L|BNC2_ENST00000380667.2_Missense_Mutation_p.Q113L	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	p.Q180L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AGGCACTGCTTGTGTCCCATA	0.562000													10	45					0	0	0.008291	0	0
CD5L	922	broad.mit.edu	37	1	157803102	157803102	+	Missense_Mutation	SNP	G	G	T	rs74121552	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:157803102G>T	ENST00000368174.4	-	5	1015	c.919C>A	c.(919-921)Cgc>Agc	p.R307S		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	307	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.R307S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGCCAGATGCGGCCAACCCCA	0.582000													47	47					2.54085e-39	4.7617e-39	0.003610	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43625106	43625106	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:43625106C>T	ENST00000332857.6	-	4	3609	c.3581G>A	c.(3580-3582)tGt>tAt	p.C1194Y		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.C1194Y(1)									GCTGTACACACATGATCTGTT	0.438000													18	112					0	0	0.007413	0	0
CUZD1	50624	broad.mit.edu	37	10	124598650	124598650	+	Missense_Mutation	SNP	C	C	T	rs143659470		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:124598650C>T	ENST00000368904.1	-	5	1280	c.331G>A	c.(331-333)Gac>Aac	p.D111N	CUZD1_ENST00000392790.1_Missense_Mutation_p.D111N|CUZD1_ENST00000545804.1_Missense_Mutation_p.D111N			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	111	CUB 1.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		p.D111N(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		GGAACATAGTCGTTTTTACTG	0.408000													70	190					0	0	0.003610	0	0
NLRP13	126204	broad.mit.edu	37	19	56424218	56424218	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:56424218C>G	ENST00000588751.1	-	5	989	c.965G>C	c.(964-966)cGc>cCc	p.R322P	NLRP13_ENST00000342929.3_Missense_Mutation_p.R322P			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	322	NACHT.						ATP binding	p.R322P(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCTCTCAGAGCGTGACTCAGA	0.463000													13	53					0	0	0.001368	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2410317	2410317	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:2410317C>T	ENST00000332578.3	+	8	1077	c.1077C>T	c.(1075-1077)gcC>gcT	p.A359A		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	359	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	p.A359A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		CACTGTGTGCCAGCTTGTACG	0.627000													8	44					0	0	0.003080	0	0
SORCS1	114815	broad.mit.edu	37	10	108489838	108489838	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:108489838C>A	ENST00000263054.6	-	6	1001	c.994G>T	c.(994-996)Gtg>Ttg	p.V332L	SORCS1_ENST00000344440.6_Missense_Mutation_p.V332L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	332						integral to membrane	neuropeptide receptor activity|protein binding	p.V332L(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCAAGATGCACAAGGTCTGGT	0.388000													4	52					4.096e-09	6.11933e-09	0.001168	1	0
TAOK3	51347	broad.mit.edu	37	12	118671547	118671547	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:118671547G>C	ENST00000392533.3	-	9	1065	c.575C>G	c.(574-576)gCt>gGt	p.A192G	TAOK3_ENST00000419821.2_Missense_Mutation_p.A192G	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	192	Protein kinase.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.A192G(1)		central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCATCCATAGCTAAGATCAC	0.353000													12	109					0	0	0.001855	0	0
NFIC	4782	broad.mit.edu	37	19	3433537	3433537	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:3433537G>C	ENST00000589123.1	+	4	749	c.629G>C	c.(628-630)aGc>aCc	p.S210T	NFIC_ENST00000346156.5_Missense_Mutation_p.S186T|NFIC_ENST00000590282.1_Missense_Mutation_p.S219T|NFIC_ENST00000341919.3_Missense_Mutation_p.S219T|NFIC_ENST00000586919.1_Missense_Mutation_p.S186T|NFIC_ENST00000443272.2_Missense_Mutation_p.S219T|NFIC_ENST00000395111.3_Missense_Mutation_p.S210T	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	219					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S210T(1)|p.S210I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		TTCCAGGAGAGCTTTGTCACC	0.622000													4	34					0	0	0.000602	0	0
CDH23	64072	broad.mit.edu	37	10	73498295	73498295	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:73498295G>A	ENST00000224721.6	+	34	4270	c.4265G>A	c.(4264-4266)cGg>cAg	p.R1422Q		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1417	Cadherin 14.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.R1422Q(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AACAGCCCCCGGTTTGACTTC	0.612000													7	33					0	0	0.004482	0	0
OR2B3	442184	broad.mit.edu	37	6	29054770	29054770	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:29054770C>A	ENST00000377173.2	-	1	320	c.256G>T	c.(256-258)Ggt>Tgt	p.G86C		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3									p.G86C(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TTGTTGCAACCAATATTTACC	0.448000													43	60					2.66277e-13	4.472e-13	0.006999	1	0
PCDH15	65217	broad.mit.edu	37	10	55782676	55782676	+	Silent	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:55782676A>T	ENST00000373965.2	-	20	2917	c.2523T>A	c.(2521-2523)gcT>gcA	p.A841A	PCDH15_ENST00000395433.1_Silent_p.A812A|PCDH15_ENST00000395430.1_Silent_p.A834A|PCDH15_ENST00000373955.1_Silent_p.A834A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Silent_p.A839A|PCDH15_ENST00000361849.3_Silent_p.A834A|PCDH15_ENST00000395445.1_Silent_p.A841A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Silent_p.A834A|PCDH15_ENST00000437009.1_Silent_p.A763A|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Silent_p.A834A|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Silent_p.A797A|PCDH15_ENST00000409834.1_Silent_p.A445A	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	834	Cadherin 8.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.A834A(2)|p.A839A(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGTAGTCCCAGCTGGCAAAT	0.398000										HNSCC(58;0.16)			37	95					0	0	0.003214	0	0
MUT	4594	broad.mit.edu	37	6	49412407	49412407	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:49412407C>A	ENST00000274813.3	-	9	1748	c.1621G>T	c.(1621-1623)Gct>Tct	p.A541S		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	541					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	p.A541S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGCTAGCAGCACATTCGGTT	0.438000													25	223					1.04121e-07	1.46716e-07	0.005443	1	0
HOXB3	3213	broad.mit.edu	37	17	46628225	46628225	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:46628225G>T	ENST00000470495.1	-	2	2214	c.767C>A	c.(766-768)tCg>tAg	p.S256*	HOXB3_ENST00000485909.2_Nonsense_Mutation_p.S124*|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000476342.1_Nonsense_Mutation_p.S256*|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Nonsense_Mutation_p.S122*|HOXB3_ENST00000489475.1_Nonsense_Mutation_p.S183*|HOXB3_ENST00000472863.1_Nonsense_Mutation_p.S183*|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000311626.4_Nonsense_Mutation_p.S256*|HOXB3_ENST00000498678.1_Nonsense_Mutation_p.S256*|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Nonsense_Mutation_p.S124*			P14651	HXB3_HUMAN	homeobox B3	256					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S256*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TGGGCCCCCCGACGACGAGGC	0.632000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	88					3.93418e-24	7.19172e-24	0.004289	1	0
PER1	5187	broad.mit.edu	37	17	8047130	8047130	+	Silent	SNP	T	T	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:8047130T>G	ENST00000317276.4	-	19	2763	c.2526A>C	c.(2524-2526)tcA>tcC	p.S842S	PER1_ENST00000581082.1_Silent_p.S819S|PER1_ENST00000578089.1_5'UTR	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	842					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.S842S(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGTGGTGGCGTGAGCGCTTGG	0.677000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					4	56					0	0	0.001168	0	0
PLCB4	5332	broad.mit.edu	37	20	9459604	9459604	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr20:9459604G>C	ENST00000378501.2	+	36	3548	c.3533G>C	c.(3532-3534)cGa>cCa	p.R1178P	PLCB4_ENST00000378473.3_Missense_Mutation_p.E1178Q|PLCB4_ENST00000378493.1_Missense_Mutation_p.E1166Q|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.E1166Q|PLCB4_ENST00000334005.3_Missense_Mutation_p.R1178P|PLCB4_ENST00000414679.2_Missense_Mutation_p.E1178Q	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	0					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.R1178Q(1)|p.R1178P(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATTGGAAGCCGAGATGGACCG	0.443000													5	19					0	0	0.001168	0	0
UBXN10	127733	broad.mit.edu	37	1	20517691	20517691	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:20517691C>A	ENST00000375099.3	+	2	721	c.637C>A	c.(637-639)Cgc>Agc	p.R213S		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	213	UBX.							p.R213S(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						AAGGTTTGTACGCCATTTCCG	0.493000													7	56					0.00198382	0.0022363	0.001984	1	0
PBLD	64081	broad.mit.edu	37	10	70048269	70048269	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:70048269C>A	ENST00000358769.2	-	8	864	c.662G>T	c.(661-663)tGg>tTg	p.W221L	PBLD_ENST00000309049.4_Missense_Mutation_p.W221L|PBLD_ENST00000432941.1_Missense_Mutation_p.W221L|PBLD_ENST00000336578.1_Missense_Mutation_p.W188L|PBLD_ENST00000277795.4_3'UTR|PBLD_ENST00000495025.1_5'UTR	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	221					biosynthetic process		isomerase activity	p.W221L(2)		endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						CACACCAACCCACGGTGCAAA	0.458000													7	47					0.00198382	0.0022363	0.001984	1	0
FFAR3	2865	broad.mit.edu	37	19	35850521	35850521	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:35850521G>T	ENST00000327809.4	+	2	930	c.729G>T	c.(727-729)gtG>gtT	p.V243V	FFAR3_ENST00000594310.1_Silent_p.V243V	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	243						integral to plasma membrane	G-protein coupled receptor activity|lipid binding	p.V243V(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CCTACAACGTGTCCCATGTCG	0.627000													13	178					9.05144e-12	1.48332e-11	0.001855	1	0
CLIP2	7461	broad.mit.edu	37	7	73811540	73811540	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:73811540C>A	ENST00000223398.6	+	14	3184	c.2857C>A	c.(2857-2859)Ctg>Atg	p.L953M	CLIP2_ENST00000361545.5_Missense_Mutation_p.L918M|CLIP2_ENST00000395060.1_Missense_Mutation_p.L953M	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	953						microtubule associated complex		p.L918M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CATCCGGGGCCTGCGTGAAAA	0.637000													8	33					0.000442599	0.00052519	0.006214	1	0
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:7578457C>A	ENST00000420246.2	-	5	605	c.473G>T	c.(472-474)cGc>cTc	p.R158L	TP53_ENST00000413465.2_Missense_Mutation_p.R158L|TP53_ENST00000445888.2_Missense_Mutation_p.R158L|TP53_ENST00000359597.4_Missense_Mutation_p.R158L|TP53_ENST00000269305.4_Missense_Mutation_p.R158L|TP53_ENST00000455263.2_Missense_Mutation_p.R158L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCCATGGCGCGGACGCGGGT	0.627000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			4	48					0.00909568	0.0098791	0.009096	1	0
TRIM72	493829	broad.mit.edu	37	16	31234185	31234185	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:31234185C>A	ENST00000322122.3	+	6	1062	c.778C>A	c.(778-780)Cgt>Agt	p.R260S		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	260					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	p.R260C(2)|p.R260S(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						CCCACCCGCCCGTCTGGACAT	0.617000													8	92					4.36969e-10	6.74492e-10	0.001855	1	0
TP53	7157	broad.mit.edu	37	17	7578290	7578290	+	Splice_Site	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:7578290C>A	ENST00000420246.2	-	6	692		c.e6-1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGGCCAGACCTAAGAGCAAT	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	23					1.12685e-05	1.46826e-05	0.004482	1	0
FRMD6	122786	broad.mit.edu	37	14	52188791	52188791	+	Silent	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:52188791A>T	ENST00000395718.2	+	12	1746	c.1461A>T	c.(1459-1461)ggA>ggT	p.G487G	FRMD6_ENST00000553556.1_Silent_p.G137G|FRMD6_ENST00000344768.5_Silent_p.G495G|FRMD6_ENST00000356218.4_Silent_p.G487G|FRMD6_ENST00000554167.1_Silent_p.G418G	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	495						cytoskeleton|mitochondrion|plasma membrane	binding	p.G487G(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AGCTGAATGGACACTCTGGTG	0.507000													10	35					0	0	0.000978	0	0
THRAP3	9967	broad.mit.edu	37	1	36759490	36759490	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:36759490G>A	ENST00000354618.5	+	8	2293	c.2069G>A	c.(2068-2070)gGt>gAt	p.G690D	THRAP3_ENST00000469141.2_Missense_Mutation_p.G690D|THRAP3_ENST00000466743.1_3'UTR	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	690					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.G690D(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGAAAACATGGTTTGGCTCAT	0.368000			T	USP6	aneurysmal bone cysts								5	180					0	0	0.001168	0	0
WISP1	8840	broad.mit.edu	37	8	134225226	134225226	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:134225226G>T	ENST00000250160.6	+	2	295	c.189G>T	c.(187-189)ccG>ccT	p.P63P	WISP1_ENST00000220856.6_Silent_p.P63P|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000517423.1_Silent_p.P63P|WISP1_ENST00000377863.2_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	63	IGFBP N-terminal.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	p.P63P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCCGCTGCCCGCTGGGGGTCA	0.632000													10	44					6.40141e-05	7.9643e-05	0.000978	1	0
FAM196A	642938	broad.mit.edu	37	10	128974033	128974033	+	Silent	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:128974033G>C	ENST00000522781.1	-	4	1182	c.627C>G	c.(625-627)ctC>ctG	p.L209L	FAM196A_ENST00000424811.2_Silent_p.L209L|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	209								p.L209L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGGAGTTTTGGAGCGCAGCTT	0.612000													11	22					0	0	0.002450	0	0
ZKSCAN8	7745	broad.mit.edu	37	6	28121316	28121316	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:28121316G>A	ENST00000330236.6	+	6	1442	c.1258G>A	c.(1258-1260)Ggc>Agc	p.G420S	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.G420S	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8									p.G420S(1)									TCAGAGTGCGGGCCTTATTCT	0.493000													36	41					0	0	0.003271	0	0
ELP2	55250	broad.mit.edu	37	18	33751061	33751061	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:33751061G>C	ENST00000358232.6	+	21	2325	c.2262G>C	c.(2260-2262)tgG>tgC	p.W754C	ELP2_ENST00000351393.6_Missense_Mutation_p.W728C|ELP2_ENST00000423854.2_Missense_Mutation_p.W684C|ELP2_ENST00000542824.1_Missense_Mutation_p.W684C|ELP2_ENST00000442325.2_Missense_Mutation_p.W819C|ELP2_ENST00000350494.6_Missense_Mutation_p.W749C	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	754					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		p.W754C(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TATATACCTGGAAAAAGACTG	0.368000													4	39					0	0	0.009096	0	0
SLC14A1	6563	broad.mit.edu	37	18	43310395	43310395	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:43310395A>T	ENST00000321925.4	+	3	342	c.110A>T	c.(109-111)tAt>tTt	p.Y37F	SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000415427.3_Missense_Mutation_p.Y93F|SLC14A1_ENST00000589700.1_Missense_Mutation_p.Y37F|SLC14A1_ENST00000535474.1_Intron|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000436407.3_Missense_Mutation_p.Y93F|SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000586142.1_Missense_Mutation_p.Y37F	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	37						integral to plasma membrane	urea transmembrane transporter activity	p.Y37L(1)|p.Y93L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GCTCTTGGCTATGTCACCGGT	0.483000													11	61					0	0	0.000978	0	0
EPHA3	2042	broad.mit.edu	37	3	89391113	89391113	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:89391113G>T	ENST00000336596.2	+	5	1404	c.1179G>T	c.(1177-1179)acG>acT	p.T393T	EPHA3_ENST00000452448.2_Silent_p.T393T|EPHA3_ENST00000494014.1_Silent_p.T393T	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	393	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding	p.T393T(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCAACACCACGGTGACAGTGA	0.483000										TSP Lung(6;0.00050)			16	46					6.31663e-08	8.95156e-08	0.003163	1	0
KIAA0319	9856	broad.mit.edu	37	6	24566863	24566863	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:24566863A>T	ENST00000535378.1	-	15	2869	c.2227T>A	c.(2227-2229)Tat>Aat	p.Y743N	KIAA0319_ENST00000543707.1_Missense_Mutation_p.Y752N|KIAA0319_ENST00000537886.1_Missense_Mutation_p.Y752N|KIAA0319_ENST00000430948.2_Missense_Mutation_p.Y707N|KIAA0319_ENST00000378214.3_Missense_Mutation_p.Y752N	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	752	PKD 5.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.Y752N(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ATCCACAGATAGGACACAATT	0.483000													10	108					0	0	0.006214	0	0
IFNA14	3448	broad.mit.edu	37	9	21239473	21239473	+	Silent	SNP	C	C	T	rs150969341	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:21239473C>T	ENST00000380222.2	-	1	505	c.462G>A	c.(460-462)ctG>ctA	p.L154L		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	154					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.L154L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCTTCTCCATCAGATAAAGAG	0.448000													8	355					0	0	0.007291	0	0
PCDH15	65217	broad.mit.edu	37	10	55600099	55600099	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:55600099C>T	ENST00000373965.2	-	30	4379	c.3985G>A	c.(3985-3987)Gat>Aat	p.D1329N	PCDH15_ENST00000395433.1_Missense_Mutation_p.D1300N|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1322N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1327N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1322N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D1329N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.D1322N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1251N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1322N|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1285N|PCDH15_ENST00000409834.1_Missense_Mutation_p.D933N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1322					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.D1322N(2)|p.D1327N(2)|p.D1327Y(1)|p.D1322Y(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCATTTCTATCGATGGCTCTG	0.413000										HNSCC(58;0.16)			40	116					0	0	0.008740	0	0
HTR1A	3350	broad.mit.edu	37	5	63256880	63256880	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:63256880G>A	ENST00000323865.3	-	1	900	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	223					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.R223C(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ATGCGGAAGCGCGCAGCTCGG	0.567000													37	86					0	0	0.004289	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622111	41622111	+	Silent	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:41622111A>T	ENST00000331105.2	+	2	90	c.18A>T	c.(16-18)acA>acT	p.T6T		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	6					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.T6T(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GCATAAGCACAGCCATCTTAC	0.577000													18	85					0	0	0.006122	0	0
TRPA1	8989	broad.mit.edu	37	8	72948636	72948636	+	Silent	SNP	C	C	A	rs146434598	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:72948636C>A	ENST00000262209.4	-	21	2649	c.2442G>T	c.(2440-2442)acG>acT	p.T814T	TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	814						integral to plasma membrane		p.T814T(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAATGATGCCCGTCGTGTAGA	0.353000													8	59					0.000157383	0.000191329	0.003080	1	0
GBP6	163351	broad.mit.edu	37	1	89849285	89849285	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:89849285C>A	ENST00000370456.4	+	9	1533	c.1440C>A	c.(1438-1440)gcC>gcA	p.A480A	GBP6_ENST00000535065.1_Silent_p.A350A	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	480							GTP binding|GTPase activity	p.A480A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CAGATAAAGCCCTCACTGATA	0.473000													18	50					1.96292e-10	3.07456e-10	0.010504	1	0
ARHGAP39	80728	broad.mit.edu	37	8	145773606	145773606	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:145773606C>T	ENST00000276826.5	-	4	1065	c.864G>A	c.(862-864)ctG>ctA	p.L288L	ARHGAP39_ENST00000377307.2_Silent_p.L288L|ARHGAP39_ENST00000540274.1_Silent_p.L288L			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	288	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	p.L288L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCTGGGCCAGCAGCGGGGAGC	0.687000													6	21					0	0	0.001984	0	0
FAM135B	51059	broad.mit.edu	37	8	139163668	139163668	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:139163668G>T	ENST00000395297.1	-	13	3220	c.3050C>A	c.(3049-3051)gCa>gAa	p.A1017E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1017								p.A1017E(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAAGGTCTCTGCAGAAGTCAG	0.522000										HNSCC(54;0.14)			15	61					2.32078e-09	3.50236e-09	0.003163	1	0
ACTN2	88	broad.mit.edu	37	1	236881160	236881160	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:236881160C>A	ENST00000366578.4	+	2	295	c.129C>A	c.(127-129)acC>acA	p.T43T	ACTN2_ENST00000542672.1_Silent_p.T43T|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	43	Actin-binding.|CH 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.T43T(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CTTTGCAGACCTTCACTGCCT	0.493000													6	16					0.00198382	0.0022363	0.001984	1	0
SLITRK4	139065	broad.mit.edu	37	X	142716539	142716539	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:142716539C>A	ENST00000381779.4	-	2	2611	c.2386G>T	c.(2386-2388)Ggt>Tgt	p.G796C	SLITRK4_ENST00000338017.4_Missense_Mutation_p.G796C|SLITRK4_ENST00000356928.1_Missense_Mutation_p.G796C	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	796						integral to membrane		p.G796C(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTTGCCACCTATCAGTGAC	0.413000													21	78					2.37509e-13	4.02521e-13	0.010504	1	0
MPHOSPH10	10199	broad.mit.edu	37	2	71361141	71361141	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:71361141G>T	ENST00000244230.2	+	3	1184	c.832G>T	c.(832-834)Gac>Tac	p.D278Y	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.D278Y	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	278					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	p.D278Y(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AAGTGATGAAGACATAACAAA	0.303000													7	38					8.12818e-05	0.000100122	0.001984	1	0
ALDH1L2	160428	broad.mit.edu	37	12	105428127	105428127	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:105428127C>G	ENST00000258494.9	-	19	2335	c.2195G>C	c.(2194-2196)gGg>gCg	p.G732A	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	732	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	p.G732A(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GAACAACCGCCCAGCAGCAAT	0.418000													5	20					0	0	0.001984	0	0
EMILIN2	84034	broad.mit.edu	37	18	2913094	2913094	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:2913094T>A	ENST00000254528.3	+	8	3013	c.2854T>A	c.(2854-2856)Tac>Aac	p.Y952N	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	952	C1q.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.Y952N(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TGATGGGCGCTACCTGATCAC	0.627000													5	47					0	0	0.001168	0	0
IGSF22	283284	broad.mit.edu	37	11	18738526	18738526	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:18738526C>T	ENST00000513874.1	-	10	1134	c.995G>A	c.(994-996)gGa>gAa	p.G332E	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	332								p.G332E(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTTCATCTCTCCCAGGAACTT	0.537000													4	49					0	0	0.009096	0	0
CES1	1066	broad.mit.edu	37	16	55844547	55844547	+	Silent	SNP	G	G	T	rs145477234		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:55844547G>T	ENST00000422046.2	-	11	1475	c.1194C>A	c.(1192-1194)gcC>gcA	p.A398A	CES1_ENST00000361503.4_Silent_p.A399A|CES1_ENST00000360526.3_Silent_p.A400A			P23141	EST1_HUMAN	carboxylesterase 1	399					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.A400A(1)							all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	ATTTCTCAGTGGCTTCTGGAA	0.478000													18	158					2.94398e-08	4.22842e-08	0.007413	1	0
SV2B	9899	broad.mit.edu	37	15	91835638	91835638	+	Silent	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:91835638T>C	ENST00000394232.1	+	13	2378	c.1908T>C	c.(1906-1908)ttT>ttC	p.F636F	SV2B_ENST00000330276.4_Silent_p.F636F|SV2B_ENST00000545111.2_Silent_p.F485F	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	636					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.F636F(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TATGCAAATTTGGCGCCATCC	0.468000													13	94					0	0	0.001855	0	0
RYR2	6262	broad.mit.edu	37	1	237806676	237806676	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:237806676G>C	ENST00000366574.2	+	48	7588	c.7271G>C	c.(7270-7272)aGa>aCa	p.R2424T	RYR2_ENST00000542537.1_Missense_Mutation_p.R2408T|RYR2_ENST00000360064.6_Missense_Mutation_p.R2422T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2424	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R2422T(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCCATTTTGAGATCCCTCATT	0.423000													18	141					0	0	0.001882	0	0
HYAL4	23553	broad.mit.edu	37	7	123516883	123516883	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:123516883G>A	ENST00000223026.4	+	5	1758	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	HYAL4_ENST00000476325.1_Missense_Mutation_p.E374K	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	374					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	p.E374K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CAGAGCTGCTGAGGTATGCAG	0.468000													14	106					0	0	0.004007	0	0
ZNF836	162962	broad.mit.edu	37	19	52663757	52663757	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:52663757C>T	ENST00000322146.8	-	4	624	c.103G>A	c.(103-105)Gat>Aat	p.D35N	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597065.1_Missense_Mutation_p.D35N|ZNF836_ENST00000597252.1_Missense_Mutation_p.D35N	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D35N(2)		endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AACATCACATCCCAGTACAAA	0.433000													16	84					0	0	0.004007	0	0
SPTA1	6708	broad.mit.edu	37	1	158592861	158592861	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:158592861G>A	ENST00000368148.3	-	43	6212	c.6032C>T	c.(6031-6033)gCc>gTc	p.A2011V	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.A2008V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2011					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.A2011V(6)		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)					CAGCAGAGCGGCATAACGCTC	0.483000													6	468					0	0	0.001168	0	0
CHIT1	1118	broad.mit.edu	37	1	203186156	203186156	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:203186156T>A	ENST00000367229.1	-	11	1296	c.1262A>T	c.(1261-1263)cAg>cTg	p.Q421L	CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000535569.1_Missense_Mutation_p.Q412L|CHIT1_ENST00000255427.3_Missense_Mutation_p.Q402L	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	421	Chitin-binding type-2.				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	p.Q421L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						AGCTTTGCCCTGGCAGAACGT	0.602000											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	81					0	0	0.006122	0	0
SCYL2	55681	broad.mit.edu	37	12	100732925	100732925	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:100732925A>T	ENST00000360820.2	+	18	3202	c.2765A>T	c.(2764-2766)aAt>aTt	p.N922I		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	922	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	p.N926I(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCAGCTAGCAATGATTTAAAA	0.368000													15	100					0	0	0.003163	0	0
RGS8	85397	broad.mit.edu	37	1	182635138	182635138	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:182635138C>A	ENST00000483095.2	-	5	416	c.159G>T	c.(157-159)tgG>tgT	p.W53C	RGS8_ENST00000367557.4_Missense_Mutation_p.W53C|RGS8_ENST00000367556.1_Missense_Mutation_p.W53C|RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000258302.4_Missense_Mutation_p.W71C			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	53					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.W53C(1)|p.W71C(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						AGGAATCTGCCCACCTCGTAG	0.398000													36	101					5.8336e-16	1.01883e-15	0.003271	1	0
ZNF585B	92285	broad.mit.edu	37	19	37676140	37676140	+	Missense_Mutation	SNP	T	T	A	rs149106602		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:37676140T>A	ENST00000532828.2	-	5	2550	c.2299A>T	c.(2299-2301)Agc>Tgc	p.S767C	ZNF585B_ENST00000312908.5_Missense_Mutation_p.S355C|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S712C|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	767					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.S767C(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAAGCGTGGCTGCTCTGATGA	0.448000													17	80					0	0	0.006122	0	0
MYH8	4626	broad.mit.edu	37	17	10303865	10303865	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:10303865C>A	ENST00000403437.2	-	27	3671	c.3577G>T	c.(3577-3579)Gct>Tct	p.A1193S	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1193					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.A1193S(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGAAGAGCAGCCACCATAGCT	0.542000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				14	77					1.05317e-09	1.60565e-09	0.002450	1	0
CDH13	1012	broad.mit.edu	37	16	83711897	83711897	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:83711897G>T	ENST00000566620.1	+	10	1659	c.1369G>T	c.(1369-1371)Ggc>Tgc	p.G457C	CDH13_ENST00000268613.10_Missense_Mutation_p.G504C|CDH13_ENST00000428848.3_Missense_Mutation_p.G418C	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	457	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	p.G457C(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CGTCTCCTACGGCCCCAGCTC	0.557000													8	32					1.06961e-07	1.49867e-07	0.003080	1	0
TACC2	10579	broad.mit.edu	37	10	123844295	123844295	+	Silent	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:123844295T>C	ENST00000369005.1	+	4	2620	c.2280T>C	c.(2278-2280)gaT>gaC	p.D760D	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.D760D|TACC2_ENST00000453444.2_Silent_p.D760D|TACC2_ENST00000515603.1_Silent_p.D760D|TACC2_ENST00000515273.1_Silent_p.D760D|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	760						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.D760D(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGTCCCCAGATCAACCCCGCG	0.607000													12	82					0	0	0.001855	0	0
EGFR	1956	broad.mit.edu	37	7	55242489	55242489	+	Silent	SNP	G	G	T	rs121913463		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:55242489G>T	ENST00000275493.2	+	19	2436	c.2259G>T	c.(2257-2259)ccG>ccT	p.P753P	EGFR_ENST00000454757.2_Silent_p.P700P|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Silent_p.P708P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	753	Protein kinase.		Missing (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S752_I759del(13)|p.T751_I759>N(8)|p.T751_I759>S(3)|p.T751_I759del(2)|p.A750_E758>P(2)|p.L747_K754del(2)|p.P753P(2)|p.E746_P753>IS(1)|p.L747_K754>ST(1)|p.A750_E758del(1)|p.T751_I759>REA(1)|p.A750_K754del(1)|p.T751_E758del(1)|p.L747_K754>N(1)|p.P753_I759del(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAACATCTCCGAAAGCCAACA	0.493000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			30	56					5.91797e-21	1.06868e-20	0.002445	1	0
FER	2241	broad.mit.edu	37	5	108516501	108516501	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:108516501G>A	ENST00000281092.4	+	18	2486	c.2102G>A	c.(2101-2103)aGt>aAt	p.S701N	FER_ENST00000438717.2_Missense_Mutation_p.S526N	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	701	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.S701N(1)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		CTGAAAATCAGTGACTTTGGA	0.398000													25	88					0	0	0.003330	0	0
ANK2	287	broad.mit.edu	37	4	114275674	114275674	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:114275674G>C	ENST00000357077.4	+	38	5953	c.5900G>C	c.(5899-5901)gGc>gCc	p.G1967A	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G1934A|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1934					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.G1967A(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCACCTTCTGGCAAAACAGAA	0.498000													19	101					0	0	0.006122	0	0
OR8H3	390152	broad.mit.edu	37	11	55890084	55890084	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:55890084C>G	ENST00000313472.3	+	1	236	c.236C>G	c.(235-237)aCa>aGa	p.T79R		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T79R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ACTGTCGTCACACCTAAAACC	0.433000													47	413					0	0	0.003610	0	0
POM121L12	285877	broad.mit.edu	37	7	53103646	53103646	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:53103646C>T	ENST00000408890.4	+	1	298	c.282C>T	c.(280-282)tcC>tcT	p.S94S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	94								p.S94S(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGTGGTCTCCGAGGGCTGGA	0.701000													11	25					0	0	0.002450	0	0
HDAC4	9759	broad.mit.edu	37	2	240085557	240085557	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:240085557C>A	ENST00000345617.3	-	6	1344	c.553G>T	c.(553-555)Gcg>Tcg	p.A185S	HDAC4_ENST00000541256.1_Missense_Mutation_p.A154S	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	185	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.A185S(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TGGGCCAGCGCCTTCTTTTTA	0.572000													22	86					1.28384e-07	1.78872e-07	0.001882	1	0
MED12L	116931	broad.mit.edu	37	3	151102898	151102898	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:151102898C>T	ENST00000474524.1	+	34	4940	c.4902C>T	c.(4900-4902)gtC>gtT	p.V1634V	MED12L_ENST00000273432.4_Silent_p.V1494V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1634					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.V1634V(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CATGTGATGTCATCACTTGTG	0.368000													19	158					0	0	0.010504	0	0
STIM2	57620	broad.mit.edu	37	4	27019384	27019384	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:27019384G>T	ENST00000382009.3	+	12	2093	c.1826G>T	c.(1825-1827)cGt>cTt	p.R609L	STIM2_ENST00000412829.2_Missense_Mutation_p.R601L|STIM2_ENST00000467011.1_Missense_Mutation_p.R514L|STIM2_ENST00000237364.5_Missense_Mutation_p.R601L|STIM2_ENST00000467087.1_Missense_Mutation_p.R514L|STIM2_ENST00000465503.1_Missense_Mutation_p.R522L	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	514					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	p.R601L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				AGCCTGTGCCGTTCACGCCGC	0.597000													26	147					4.59853e-10	7.06881e-10	0.005443	1	0
TMEFF2	23671	broad.mit.edu	37	2	192863879	192863879	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:192863879C>A	ENST00000392314.1	-	6	983	c.592G>T	c.(592-594)Gat>Tat	p.D198Y	AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000487771.1_5'UTR|TMEFF2_ENST00000272771.5_Missense_Mutation_p.D198Y|AC098617.1_ENST00000428980.2_RNA			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	198	Kazal-like 2.					extracellular region|integral to membrane		p.D198Y(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			GATTTCCCATCAGAAGCGCAG	0.368000													5	115					0.000602214	0.000704477	0.000602	1	0
SLC4A10	57282	broad.mit.edu	37	2	162751275	162751275	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:162751275C>T	ENST00000535165.1	+	10	1314	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	SLC4A10_ENST00000421911.1_Silent_p.L427L|SLC4A10_ENST00000415876.2_Silent_p.L397L|SLC4A10_ENST00000272716.5_Silent_p.L397L|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Silent_p.L427L|SLC4A10_ENST00000375514.5_Silent_p.L408L			Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	0					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.L397L(1)|p.L427L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTACTGTTCTCCCTCCTGGAG	0.363000													11	68					0	0	0.001855	0	0
WDR24	84219	broad.mit.edu	37	16	739444	739444	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:739444C>T	ENST00000293883.4	-	1	956	c.197G>A	c.(196-198)cGt>cAt	p.R66H	WDR24_ENST00000248142.6_Missense_Mutation_p.R128H	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	128								p.R66H(1)|p.R128H(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GCGCCCCACACGCAGGTTCAG	0.597000													5	19					0	0	0.000602	0	0
LPHN2	23266	broad.mit.edu	37	1	82456781	82456781	+	Silent	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:82456781A>T	ENST00000370728.1	+	25	4977	c.4332A>T	c.(4330-4332)ccA>ccT	p.P1444P	LPHN2_ENST00000271029.4_Silent_p.P1416P|LPHN2_ENST00000359929.3_Silent_p.P1388P|LPHN2_ENST00000319517.6_Silent_p.P1388P|LPHN2_ENST00000370730.1_Silent_p.P1401P|LPHN2_ENST00000370723.1_Silent_p.P1446P|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370721.1_Silent_p.P1369P|LPHN2_ENST00000394879.1_Silent_p.P1446P|LPHN2_ENST00000370717.2_Silent_p.P1459P|LPHN2_ENST00000370725.1_Silent_p.P1459P|LPHN2_ENST00000370727.1_Silent_p.P1416P|LPHN2_ENST00000335786.5_Silent_p.P1401P|LPHN2_ENST00000370713.1_3'UTR			O95490	LPHN2_HUMAN	latrophilin 2	1444					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.P1459P(1)|p.P1388P(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ggtgtattccagAAGGAGATG	0.413000													4	38					0	0	0.009096	0	0
SPRR2B	6701	broad.mit.edu	37	1	153043164	153043164	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:153043164T>A	ENST00000341611.2	-	2	214	c.152A>T	c.(151-153)cAg>cTg	p.Q51L	SPRR2B_ENST00000368755.2_Missense_Mutation_p.Q51L|SPRR2B_ENST00000368752.4_Missense_Mutation_p.Q51L	NM_001017418.1	NP_001017418.1	P35325	SPR2B_HUMAN	small proline-rich protein 2B	51					keratinization	cornified envelope|cytoplasm		p.Q51L(1)		endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATATTTCTGCTGGCACTGCTG	0.587000													40	116					0	0	0.003610	0	0
USP14	9097	broad.mit.edu	37	18	196747	196747	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:196747C>A	ENST00000261601.6	+	7	665	c.574C>A	c.(574-576)Caa>Aaa	p.Q192K	USP14_ENST00000383589.2_Missense_Mutation_p.Q146K|USP14_ENST00000582707.1_Missense_Mutation_p.Q157K|USP14_ENST00000400266.3_Missense_Mutation_p.Q181K	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	192					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.Q192K(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				GAAAGGTGAACAAGGACAGTA	0.368000													20	126					2.27731e-05	2.92628e-05	0.001882	1	0
DIP2C	22982	broad.mit.edu	37	10	465069	465069	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:465069C>G	ENST00000280886.6	-	6	762	c.675G>C	c.(673-675)caG>caC	p.Q225H	DIP2C_ENST00000381496.3_Missense_Mutation_p.Q118H	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	225						nucleus	catalytic activity|transcription factor binding	p.Q225H(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCGTGGAACCCTGCGGTCTCT	0.532000													10	77					0	0	0.001368	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52132731	52132731	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:52132731G>T	ENST00000222107.4	-	3	718	c.580C>A	c.(580-582)Cgc>Agc	p.R194S	SIGLEC5_ENST00000429354.3_Missense_Mutation_p.R194S|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.R194S|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.R194S|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.R194S			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	194	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding	p.R194S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TCCGAGGAGCGGGTGGTCTCG	0.637000													5	25					0.000602214	0.000704477	0.000602	1	0
PKHD1	5314	broad.mit.edu	37	6	51907900	51907900	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:51907900C>A	ENST00000371117.3	-	27	3129	c.2854G>T	c.(2854-2856)Gga>Tga	p.G952*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.G952*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	952	IPT/TIG 4.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.G952*(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAACCAGTTCCGGTAATGTAA	0.353000													7	41					8.12818e-05	0.000100122	0.001984	1	0
CNTNAP1	8506	broad.mit.edu	37	17	40835871	40835871	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:40835871T>C	ENST00000264638.4	+	2	317	c.100T>C	c.(100-102)Tat>Cat	p.Y34H	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	34	F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	p.Y34H(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GGGTCCCCTGTATGCACGCTC	0.642000													8	31					0	0	0.006214	0	0
RAB3IP	117177	broad.mit.edu	37	12	70209151	70209151	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:70209151G>T	ENST00000550536.1	+	11	1813	c.1356G>T	c.(1354-1356)caG>caT	p.Q452H	RAB3IP_ENST00000247833.7_Missense_Mutation_p.Q436H|RAB3IP_ENST00000362025.5_3'UTR|RAB3IP_ENST00000325555.9_Missense_Mutation_p.Q230H|AC025263.3_ENST00000550437.1_Intron|RAB3IP_ENST00000483530.2_3'UTR|RAB3IP_ENST00000553099.1_Missense_Mutation_p.Q230H|RAB3IP_ENST00000551641.1_Missense_Mutation_p.Q230H|RAB3IP_ENST00000550847.1_Missense_Mutation_p.Q143H	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	452					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	p.Q452H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TAGTTGATCAGATGTTTTGGG	0.358000													25	68					2.44723e-14	4.16645e-14	0.004656	1	0
BAGE2	85319	broad.mit.edu	37	21	11039408	11039408	+	RNA	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr21:11039408T>A	ENST00000470054.1	-	0	795									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTAGAAATCTGTTTTTCCAA	0.299000													5	166					0	0	0.000602	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459724	107459724	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:107459724C>A	ENST00000409382.3	-	2	1320	c.710G>T	c.(709-711)cGc>cTc	p.R237L	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R237L|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R237L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	237					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.R237L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCCGCGGAAGCGCACCCCGTG	0.687000													3	6					0.004672	0.00511925	0.004672	1	0
OR1S2	219958	broad.mit.edu	37	11	57970951	57970951	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:57970951T>C	ENST00000302592.6	-	1	702	c.703A>G	c.(703-705)Atc>Gtc	p.I235V		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I235V(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				ACAGCTCTGATGATGCAGACA	0.438000													13	39					0	0	0.001368	0	0
KIRREL	55243	broad.mit.edu	37	1	158064446	158064446	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:158064446G>T	ENST00000368172.1	+	11	1264	c.1252G>T	c.(1252-1254)Ggc>Tgc	p.G418C	KIRREL_ENST00000360089.4_Missense_Mutation_p.G440C|KIRREL_ENST00000392272.2_Missense_Mutation_p.G501C|KIRREL_ENST00000359209.6_Missense_Mutation_p.G604C|KIRREL_ENST00000416935.2_Missense_Mutation_p.G504C|KIRREL_ENST00000368173.3_Missense_Mutation_p.G620C			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	604	Ig-like C2-type 5.					integral to membrane		p.G440C(1)|p.G604C(1)|p.G620C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCCCACCAATGGCTACTACAA	0.627000													4	52					0.00024832	0.000297984	0.009096	1	0
LUM	4060	broad.mit.edu	37	12	91497992	91497992	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:91497992G>T	ENST00000266718.4	-	3	1421	c.967C>A	c.(967-969)Ccg>Acg	p.P323T	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	323					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.P323T(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TACATATCCGGTGGAAGACTG	0.403000													15	53					0.00400662	0.00446916	0.004007	1	0
LEPR	3953	broad.mit.edu	37	1	66075681	66075681	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:66075681G>T	ENST00000349533.6	+	13	1989	c.1804G>T	c.(1804-1806)Gac>Tac	p.D602Y	LEPR_ENST00000371058.1_Missense_Mutation_p.D602Y|LEPR_ENST00000371059.3_Missense_Mutation_p.D602Y|LEPR_ENST00000344610.8_Missense_Mutation_p.D602Y|LEPR_ENST00000371060.3_Missense_Mutation_p.D602Y|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	602	Fibronectin type-III 2.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	p.D602Y(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CCCAGTTCCAGACTTGTGTGC	0.408000													53	148					6.3091e-27	1.16187e-26	0.003610	1	0
NHLRC3	387921	broad.mit.edu	37	13	39616394	39616394	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:39616394G>A	ENST00000379600.3	+	4	860	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	NHLRC3_ENST00000470258.1_5'UTR|NHLRC3_ENST00000379599.2_Intron	NM_001012754.2	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	180						extracellular region		p.V180M(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		TATTTACATTGTGGATGGAGA	0.333000													14	83					0	0	0.004007	0	0
SLIT2	9353	broad.mit.edu	37	4	20619120	20619120	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:20619120G>A	ENST00000504154.1	+	36	4447	c.4195G>A	c.(4195-4197)Gag>Aag	p.E1399K	SLIT2_ENST00000273739.5_Missense_Mutation_p.E1412K|SLIT2_ENST00000503837.1_Missense_Mutation_p.E1395K|SLIT2_ENST00000503823.1_Missense_Mutation_p.E1391K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1399					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.E1399K(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TAAGTGCTTGGAGGGCCATGG	0.537000													7	35					0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9064859	9064859	+	Silent	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:9064859A>T	ENST00000397910.4	-	3	22790	c.22587T>A	c.(22585-22587)acT>acA	p.T7529T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7531	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7529T(2)|p.T3162T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAATTTTCCTAGTGTTAGATA	0.478000													12	55					0	0	0.001368	0	0
DICER1	23405	broad.mit.edu	37	14	95562968	95562968	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:95562968C>A	ENST00000526495.1	-	25	4580	c.4289G>T	c.(4288-4290)aGg>aTg	p.R1430M	DICER1_ENST00000343455.3_Missense_Mutation_p.R1430M|DICER1_ENST00000527414.1_Missense_Mutation_p.R1430M|DICER1_ENST00000556045.1_Missense_Mutation_p.R328M|DICER1_ENST00000393063.1_Missense_Mutation_p.R1430M|DICER1_ENST00000541352.1_Missense_Mutation_p.R1430M			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1430					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.R1430M(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTTCGGAGCCCTCCACATCAG	0.468000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				4	28					0.00909568	0.0098791	0.009096	1	0
MUC17	140453	broad.mit.edu	37	7	100684721	100684721	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:100684721C>G	ENST00000306151.4	+	3	10088	c.10024C>G	c.(10024-10026)Cta>Gta	p.L3342V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3342	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.L3342V(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)					AAGCACTCCACTAACAAATAT	0.493000													4	305					0	0	0.009096	0	0
PDE4D	5144	broad.mit.edu	37	5	58271612	58271612	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:58271612G>A	ENST00000340635.6	-	14	2060	c.1885C>T	c.(1885-1887)Cag>Tag	p.Q629*	PDE4D_ENST00000502484.2_Nonsense_Mutation_p.Q568*|PDE4D_ENST00000546160.1_Nonsense_Mutation_p.Q568*|PDE4D_ENST00000317118.8_Nonsense_Mutation_p.Q338*|PDE4D_ENST00000405755.2_Nonsense_Mutation_p.Q507*|PDE4D_ENST00000507116.1_Nonsense_Mutation_p.Q565*|PDE4D_ENST00000503258.1_Nonsense_Mutation_p.Q499*|PDE4D_ENST00000358923.6_Nonsense_Mutation_p.Q327*|PDE4D_ENST00000360047.5_Nonsense_Mutation_p.Q493*	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	629					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.Q493*(2)|p.Q565*(1)|p.Q499*(1)|p.Q507*(1)|p.Q629*(1)|p.Q568*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CGGTACAGCTGGAGAGGCTTT	0.493000													8	59					0	0	0.004482	0	0
ORC5	5001	broad.mit.edu	37	7	103767298	103767298	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:103767298C>A	ENST00000545943.1	-	15	1534	c.909G>T	c.(907-909)ttG>ttT	p.L303F	ORC5_ENST00000297431.4_Missense_Mutation_p.L435F			O43913	ORC5_HUMAN	origin recognition complex, subunit 5	435					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	p.L435F(1)		kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						CTTGTTTTCACAAGAAATCAT	0.393000													9	39					2.17888e-05	2.80464e-05	0.006214	1	0
MAGEA11	4110	broad.mit.edu	37	X	148798362	148798362	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:148798362G>A	ENST00000355220.5	+	5	1318	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	MAGEA11_ENST00000333104.4_Missense_Mutation_p.A377T	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	406	MAGE.					cytoplasm|nucleus	protein binding	p.A406T(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CATAGCCAATGCCAATGGGAG	0.557000													24	97					0	0	0.004656	0	0
ZNF22	7570	broad.mit.edu	37	10	45498928	45498928	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:45498928C>T	ENST00000298299.3	+	2	705	c.112C>T	c.(112-114)Cga>Tga	p.R38*	CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	38					odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding	p.R38*(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				CATGACTATTCGATTTGACTC	0.453000													8	61					0	0	0.003080	0	0
COL11A1	1301	broad.mit.edu	37	1	103428212	103428212	+	Silent	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:103428212T>A	ENST00000358392.2	-	39	3374	c.3057A>T	c.(3055-3057)gcA>gcT	p.A1019A	COL11A1_ENST00000512756.1_Silent_p.A891A|COL11A1_ENST00000353414.4_Silent_p.A968A|COL11A1_ENST00000370096.3_Silent_p.A1007A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1007	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.A1007A(1)|p.A1019A(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTTGTACCTTTGCACCTTCTT	0.463000													23	50					0	0	0.002299	0	0
CBLN3	643866	broad.mit.edu	37	14	24897532	24897532	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:24897532C>T	ENST00000267406.6	-	2	850	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	CBLN3_ENST00000555436.1_Missense_Mutation_p.R76Q	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	127	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse		p.R127Q(1)		central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		CACATGGAACCGGAAGCTGTA	0.647000													31	108					0	0	0.008361	0	0
P2RY10	27334	broad.mit.edu	37	X	78216859	78216859	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:78216859G>A	ENST00000171757.2	+	4	1122	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	P2RY10_ENST00000544091.1_Missense_Mutation_p.R281Q	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	281						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R281E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CCCGTTGTCCGAATCGCACTG	0.418000													26	95					0	0	0.005443	0	0
PIK3C3	5289	broad.mit.edu	37	18	39570474	39570474	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:39570474G>T	ENST00000262039.4	+	6	756	c.670G>T	c.(670-672)Gtc>Ttc	p.V224F	PIK3C3_ENST00000398870.3_Missense_Mutation_p.V161F	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	224					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	p.V224F(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						ATTTCGATGTGTCAAGTGTGA	0.308000										TSP Lung(28;0.18)			6	43					1.76689e-08	2.55753e-08	0.006214	1	0
TENM3	55714	broad.mit.edu	37	4	183522218	183522218	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:183522218C>A	ENST00000511685.1	+	4	776	c.653C>A	c.(652-654)cCg>cAg	p.P218Q	TENM3_ENST00000406950.2_Missense_Mutation_p.P218Q					teneurin transmembrane protein 3									p.P218Q(2)									AGTCCGGCCCCGCCGGCTGCT	0.572000													13	84					1.5842e-08	2.30204e-08	0.001855	1	0
KIAA1324	57535	broad.mit.edu	37	1	109743374	109743374	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:109743374C>T	ENST00000369939.3	+	21	3008	c.2825C>T	c.(2824-2826)tCc>tTc	p.S942F	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.S855F	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	942					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		p.S942F(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TACAAGTACTCCAAGCTGGTG	0.483000											OREG0013630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	41					0	0	0.004482	0	0
EIF4A2	1974	broad.mit.edu	37	3	186504993	186504993	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:186504993G>T	ENST00000323963.5	+	8	913	c.849G>T	c.(847-849)agG>agT	p.R283S	EIF4A2_ENST00000356531.5_Missense_Mutation_p.R188S|EIF4A2_ENST00000440191.2_Missense_Mutation_p.R284S			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	283	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	p.R283S(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TCAATACGAGGCGCAAGGTGG	0.423000			T	BCL6	NHL								39	99					3.66082e-28	6.75843e-28	0.005524	1	0
UGT2A3	79799	broad.mit.edu	37	4	69795752	69795752	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:69795752G>T	ENST00000251566.4	-	6	1393	c.1363C>A	c.(1363-1365)Cta>Ata	p.L455I	UGT2A3_ENST00000420231.2_Missense_Mutation_p.L166I	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	455						integral to membrane	glucuronosyltransferase activity	p.L455I(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTCGATCTAGGGGCTTTACA	0.453000													16	94					2.48551e-13	4.18375e-13	0.004990	1	0
NUP62	23636	broad.mit.edu	37	19	50411625	50411625	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:50411625C>A	ENST00000596217.1	-	2	3327	c.1440G>T	c.(1438-1440)gcG>gcT	p.A480A	NUP62_ENST00000422090.2_Silent_p.A480A|NUP62_ENST00000597723.1_Silent_p.A404A|IL4I1_ENST00000341114.3_Intron|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000413454.1_Silent_p.A480A|NUP62_ENST00000352066.3_Silent_p.A480A|NUP62_ENST00000597029.1_Silent_p.A480A			P37198	NUP62_HUMAN	nucleoporin 62kDa	480					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	p.A480A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGTCCATGTGCGCATTGAGGA	0.627000													15	110					3.41278e-10	5.30086e-10	0.004990	1	0
HINT3	135114	broad.mit.edu	37	6	126298798	126298798	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:126298798C>T	ENST00000229633.5	+	5	722	c.525C>T	c.(523-525)caC>caT	p.H175H		NM_138571.4	NP_612638.3	Q9NQE9	HINT3_HUMAN	histidine triad nucleotide binding protein 3	175						mitochondrion|nucleolus	hydrolase activity	p.H175H(1)		endometrium(1)|large_intestine(1)|lung(1)|stomach(1)	4				UCEC - Uterine corpus endometrioid carcinoma (4;0.153)|GBM - Glioblastoma multiforme(226;0.0321)		AGGCTGATCACTTGATTGAAA	0.299000													10	74					0	0	0.006214	0	0
TCEAL3	85012	broad.mit.edu	37	X	102864488	102864488	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:102864488C>A	ENST00000372628.1	+	3	854	c.496C>A	c.(496-498)Caa>Aaa	p.Q166K	TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Missense_Mutation_p.Q166K|TCEAL3_ENST00000243286.3_Missense_Mutation_p.Q166K			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q166K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						TCATTGGATGCAAAGAGATGT	0.517000													5	121					8.12818e-05	0.000100122	0.001984	1	0
NRAP	4892	broad.mit.edu	37	10	115374006	115374006	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:115374006G>T	ENST00000369358.4	-	29	3504	c.3260C>A	c.(3259-3261)tCc>tAc	p.S1087Y	NRAP_ENST00000360478.3_Missense_Mutation_p.S1044Y|NRAP_ENST00000359988.3_Missense_Mutation_p.S1079Y|NRAP_ENST00000369360.3_Missense_Mutation_p.S1052Y			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1079						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.S1079Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAAGCTCCGGGAACCAAGCAT	0.507000													18	187					1.00905e-13	1.714e-13	0.008871	1	0
PAK7	57144	broad.mit.edu	37	20	9624939	9624939	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr20:9624939C>A	ENST00000378429.3	-	4	584	c.38G>T	c.(37-39)gGc>gTc	p.G13V	PAK7_ENST00000353224.5_Missense_Mutation_p.G13V|PAK7_ENST00000378423.1_Missense_Mutation_p.G13V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	13	CRIB.						ATP binding|protein binding|protein serine/threonine kinase activity	p.G13V(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTTGGACGGGCCAGATATTTC	0.448000													12	59					9.31168e-06	1.22401e-05	0.001855	1	0
RERE	473	broad.mit.edu	37	1	8684419	8684419	+	Missense_Mutation	SNP	G	G	A	rs142952294	by1000genomes	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:8684419G>A	ENST00000337907.3	-	4	980	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	RERE_ENST00000400908.2_Missense_Mutation_p.R116W|RERE_ENST00000400907.2_Missense_Mutation_p.R116W	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	116	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R116W(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTTGGCCTCCGACTCTCGATA	0.378000													7	112					0	0	0.003080	0	0
TMEM155	132332	broad.mit.edu	37	4	122682991	122682991	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:122682991G>T	ENST00000337677.5	-	4	606	c.48C>A	c.(46-48)tcC>tcA	p.S16S	TMEM155_ENST00000394396.1_Silent_p.S16S|TMEM155_ENST00000394394.1_Silent_p.S16S	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	16						extracellular region		p.S16S(1)		breast(1)|lung(5)	6						TTACAAGTTTGGAAATTAGTG	0.333000													15	34					9.16793e-09	1.34007e-08	0.004990	1	0
C17orf102	400591	broad.mit.edu	37	17	32905960	32905960	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:32905960C>G	ENST00000357754.1	-	1	428	c.340G>C	c.(340-342)Gtg>Ctg	p.V114L		NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	114								p.V114L(1)		central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						AGGTTTCCCACAGCTGCGCCC	0.602000													23	148					0	0	0.001882	0	0
UBR4	23352	broad.mit.edu	37	1	19478267	19478267	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:19478267T>C	ENST00000375267.2	-	48	7086	c.7083A>G	c.(7081-7083)atA>atG	p.I2361M	UBR4_ENST00000375226.2_Missense_Mutation_p.I2361M|UBR4_ENST00000375254.3_Missense_Mutation_p.I2361M|UBR4_ENST00000375217.2_Missense_Mutation_p.I2361M			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2361					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.I2361M(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGGCCCGTTCTATTGCTTGAG	0.512000													12	50					0	0	0.000978	0	0
SCN11A	11280	broad.mit.edu	37	3	38936142	38936142	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:38936142G>T	ENST00000450244.1	-	15	2915	c.2717C>A	c.(2716-2718)aCc>aAc	p.T906N	SCN11A_ENST00000456224.3_Missense_Mutation_p.T906N|SCN11A_ENST00000302328.3_Missense_Mutation_p.T906N|SCN11A_ENST00000444237.2_Missense_Mutation_p.T906N			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	906					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T906N(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GACGCCCAGGGTCTTTGGTAC	0.502000													15	107					6.31663e-08	8.95156e-08	0.003163	1	0
FER1L6	654463	broad.mit.edu	37	8	124975546	124975546	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:124975546G>T	ENST00000522917.1	+	3	311	c.105G>T	c.(103-105)caG>caT	p.Q35H	FER1L6_ENST00000399018.1_Missense_Mutation_p.Q35H	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	35						integral to membrane		p.Q35H(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGCACTGCAGGAGGAGCCTT	0.478000													12	92					0.000978159	0.0011318	0.000978	1	0
RHOXF2	84528	broad.mit.edu	37	X	119293138	119293138	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:119293138C>A	ENST00000371388.3	+	2	487	c.297C>A	c.(295-297)ggC>ggA	p.G99G		NM_032498.1	NP_115887.1	Q9BQY4	RHXF2_HUMAN	Rhox homeobox family, member 2	99						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G99G(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						GCACCAGCGGCAGCGATGGCA	0.647000													6	16					3.59834e-05	4.56854e-05	0.001168	1	0
KPRP	448834	broad.mit.edu	37	1	152733428	152733428	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:152733428G>A	ENST00000368773.1	+	2	1422	c.1364G>A	c.(1363-1365)tGt>tAt	p.C455Y	KPRP_ENST00000606109.1_Missense_Mutation_p.C455Y	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	455	Pro-rich.					cytoplasm		p.C455Y(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGGGCAGTGTGAGATTCCA	0.612000													31	96					0	0	0.002096	0	0
LOC101929735	101929735	broad.mit.edu	37	14	22934989	22934989	+	RNA	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:22934989C>A	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA																							CAACTGAGCACTAGATTTGCT	0.493000													5	5					3.59834e-05	4.56854e-05	0.001168	1	0
MUC17	140453	broad.mit.edu	37	7	100684682	100684682	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:100684682A>T	ENST00000306151.4	+	3	10049	c.9985A>T	c.(9985-9987)Agc>Tgc	p.S3329C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3329	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S3329C(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)					TGACGGTACTAGCATGCCAAC	0.488000													36	240					0	0	0.003755	0	0
OGDHL	55753	broad.mit.edu	37	10	50944420	50944420	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:50944420T>C	ENST00000374103.4	-	21	2822	c.2737A>G	c.(2737-2739)Atc>Gtc	p.I913V	OGDHL_ENST00000432695.1_Missense_Mutation_p.I704V|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.I856V	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	913					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.I913V(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGGCGCGTGATGGCCACTTTC	0.632000													14	74					0	0	0.003163	0	0
TMEM175	84286	broad.mit.edu	37	4	952220	952220	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:952220A>C	ENST00000264771.4	+	11	1636	c.1451A>C	c.(1450-1452)cAc>cCc	p.H484P	TMEM175_ENST00000515740.1_Missense_Mutation_p.H368P|TMEM175_ENST00000508204.1_Missense_Mutation_p.H402P	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	484						integral to membrane		p.H484P(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGGCCCGAACACCCCCCGCCA	0.736000													4	4					0	0	0.001984	0	0
ZBTB39	9880	broad.mit.edu	37	12	57398575	57398575	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:57398575C>T	ENST00000300101.2	-	2	212	c.127G>A	c.(127-129)Gcc>Acc	p.A43T		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	43	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A43T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GCCTTGTGGGCCGGGAAGGAG	0.582000													36	94					0	0	0.005524	0	0
NHEJ1	79840	broad.mit.edu	37	2	219942058	219942058	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:219942058G>T	ENST00000356853.5	-	7	868	c.735C>A	c.(733-735)tcC>tcA	p.S245S	NHEJ1_ENST00000483627.1_5'UTR|NHEJ1_ENST00000409720.1_Silent_p.S245S	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	245					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding	p.S245S(1)		kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		TTCCTTGCAGGGAAGCACTGT	0.463000								Non-homologous end-joining					6	70					0.00198382	0.0022363	0.001984	1	0
MFAP1	4236	broad.mit.edu	37	15	44097385	44097385	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:44097385C>T	ENST00000267812.3	-	9	1459	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	409						microfibril		p.E409E(1)		breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TCTGGGCACTCTCTTGGCCCC	0.507000													8	71					0	0	0.003080	0	0
PCLO	27445	broad.mit.edu	37	7	82785355	82785355	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:82785355C>A	ENST00000423517.2	-	2	939	c.602G>T	c.(601-603)gGa>gTa	p.G201V	PCLO_ENST00000333891.8_Missense_Mutation_p.G201V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	201	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G201V(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCAGGTTTTCCTTGCTCCTT	0.448000													6	36					0.00116845	0.00133948	0.001168	1	0
ACACA	31	broad.mit.edu	37	17	35486404	35486404	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:35486404T>A	ENST00000353139.5	-	47	6312	c.5831A>T	c.(5830-5832)cAc>cTc	p.H1944L	ACACA_ENST00000335166.5_Missense_Mutation_p.H1829L|ACACA_ENST00000360679.3_Missense_Mutation_p.H1849L|ACACA_ENST00000394406.2_Missense_Mutation_p.H1907L|ACACA_ENST00000361253.5_Missense_Mutation_p.H33L	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1907	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.H1944L(1)|p.H1849L(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AACTGAACTGTGCACGCTCTA	0.478000													6	32					0	0	0.001984	0	0
ERRFI1	54206	broad.mit.edu	37	1	8074129	8074129	+	Nonsense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:8074129G>C	ENST00000377482.5	-	4	753	c.530C>G	c.(529-531)tCa>tGa	p.S177*	ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	177					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	p.S177*(1)		breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GTCTGTATCTGAGCTAGTTAG	0.473000													11	62					0	0	0.000978	0	0
NID2	22795	broad.mit.edu	37	14	52505683	52505683	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:52505683G>C	ENST00000216286.5	-	9	2038	c.2039C>G	c.(2038-2040)aCa>aGa	p.T680R	NID2_ENST00000541773.1_Missense_Mutation_p.T627R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	680	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding	p.T680R(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCTGGAACTTGTAGAGGTCAC	0.418000													7	38					0	0	0.001984	0	0
GATA4	2626	broad.mit.edu	37	8	11606472	11606472	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:11606472G>T	ENST00000335135.4	+	3	1219	c.661G>T	c.(661-663)Ggg>Tgg	p.G221W	GATA4_ENST00000528712.1_Missense_Mutation_p.G15W|GATA4_ENST00000532059.1_Missense_Mutation_p.G222W	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	221					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.G221W(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TGTCAACTGTGGGGCTATGTC	0.522000													16	55					3.41278e-10	5.30086e-10	0.004990	1	0
TPTE	7179	broad.mit.edu	37	21	10969090	10969090	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr21:10969090G>T	ENST00000361285.4	-	7	487	c.158C>A	c.(157-159)tCa>tAa	p.S53*	TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Intron|TPTE_ENST00000342420.5_Intron	NM_199261.2	NP_954870.2	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	53					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S53*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTGATAGGTGACACCCGGGC	0.448000													12	233					2.61681e-11	4.20499e-11	0.002450	1	0
BMS1	9790	broad.mit.edu	37	10	43318582	43318582	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:43318582C>T	ENST00000374518.4	+	20	3212	c.3149C>T	c.(3148-3150)gCc>gTc	p.A1050V		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1050					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.A1050V(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTTAATTCTGCCTTGGAAGTG	0.413000													17	119					0	0	0.006122	0	0
MST1R	4486	broad.mit.edu	37	3	49928939	49928939	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:49928939C>T	ENST00000296474.3	-	16	3454	c.3427G>A	c.(3427-3429)Gtg>Atg	p.V1143M	MST1R_ENST00000344206.4_Missense_Mutation_p.V1094M	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1143	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	p.V1143M(2)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AGAGCCAGCACATTCGGGTGG	0.607000													16	51					0	0	0.007413	0	0
C7orf26	79034	broad.mit.edu	37	7	6631427	6631427	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:6631427G>T	ENST00000344417.5	+	2	610	c.343G>T	c.(343-345)Gga>Tga	p.G115*	C7orf26_ENST00000359073.5_Nonsense_Mutation_p.G96*|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	115								p.G115*(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GAGCTTGTTGGGAAAACTGGT	0.547000													29	155					2.4375e-19	4.34892e-19	0.007291	1	0
AGPAT6	137964	broad.mit.edu	37	8	41469728	41469728	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:41469728G>C	ENST00000396987.3	+	7	1658	c.731G>C	c.(730-732)tGt>tCt	p.C244S	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	244					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	p.C244S(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			GGTGGCATCTGTGTGGCCAAT	0.458000													5	151					0	0	0.001168	0	0
KRT73	319101	broad.mit.edu	37	12	53002077	53002077	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:53002077C>A	ENST00000305748.3	-	9	1560	c.1526G>T	c.(1525-1527)gGg>gTg	p.G509V	RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	509	Tail.					keratin filament	structural molecule activity	p.G509V(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGGCTTCCCCACGGGGGCT	0.582000													8	73					7.48243e-07	1.02145e-06	0.006214	1	0
SLITRK5	26050	broad.mit.edu	37	13	88327943	88327943	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:88327943G>A	ENST00000325089.6	+	2	519	c.300G>A	c.(298-300)gaG>gaA	p.E100E	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	100						integral to membrane		p.E100V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATCCCAATGAGTTTGTCAATT	0.488000													29	158					0	0	0.002096	0	0
CTDP1	9150	broad.mit.edu	37	18	77464788	77464788	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:77464788G>T	ENST00000299543.7	+	5	790	c.643G>T	c.(643-645)Ggc>Tgc	p.G215C	CTDP1_ENST00000075430.7_Missense_Mutation_p.G215C	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	215	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	p.G215C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CTTCCAGCTGGGCCGGGGTGA	0.607000													5	55					2.7689e-08	3.98464e-08	0.001984	1	0
OFCC1	266553	broad.mit.edu	37	6	9897176	9897176	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:9897176A>T	ENST00000316020.6	-	7	771	c.772T>A	c.(772-774)Ttg>Atg	p.L258M	OFCC1_ENST00000472329.1_5'UTR					orofacial cleft 1 candidate 1									p.L213M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				ACTTTGAGCAAGAGTATCcat	0.403000													26	24					0	0	0.004656	0	0
SUPT20H	55578	broad.mit.edu	37	13	37593535	37593535	+	Splice_Site	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:37593535C>A	ENST00000360252.4	-	22	2067		c.e22-1		SUPT20H_ENST00000464744.1_Splice_Site|SUPT20H_ENST00000475892.1_Splice_Site|SUPT20H_ENST00000356185.3_Splice_Site|SUPT20H_ENST00000350612.6_Splice_Site	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)									p.?(1)									AATGGAACACCTGTTAAATAA	0.254000													15	89					0.00400662	0.00446916	0.004007	1	0
C2orf53	339779	broad.mit.edu	37	2	27360020	27360020	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:27360020G>T	ENST00000335524.3	-	3	1703	c.1178C>A	c.(1177-1179)cCt>cAt	p.P393H		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	393								p.P393H(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCAGGGCAAGGCCTGGGCTT	0.582000													12	66					4.3838e-07	6.0399e-07	0.001855	1	0
RNMT	8731	broad.mit.edu	37	18	13731883	13731883	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:13731883A>T	ENST00000383314.2	+	3	607	c.367A>T	c.(367-369)Act>Tct	p.T123S	RNMT_ENST00000589866.1_Missense_Mutation_p.T123S|RNMT_ENST00000592764.1_Missense_Mutation_p.T123S|RNMT_ENST00000262173.3_Missense_Mutation_p.T123S|RNMT_ENST00000543302.2_Missense_Mutation_p.T123S|RNMT_ENST00000535051.1_Intron			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	123					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	p.T123S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						TGGAGATGGCACTCAAAATAA	0.333000													12	73					0	0	0.001855	0	0
PDILT	204474	broad.mit.edu	37	16	20380924	20380924	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:20380924C>A	ENST00000302451.4	-	8	1254	c.1006G>T	c.(1006-1008)Gtc>Ttc	p.V336F		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	336					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.V336F(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AGGATTTGGACGGATGGGATA	0.468000													19	140					2.4624e-09	3.70855e-09	0.008871	1	0
PLCE1	51196	broad.mit.edu	37	10	95993841	95993841	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:95993841C>A	ENST00000260766.3	+	6	2620	c.1986C>A	c.(1984-1986)ttC>ttA	p.F662L	PLCE1_ENST00000371380.2_Missense_Mutation_p.F662L|PLCE1_ENST00000371385.3_Missense_Mutation_p.F354L|PLCE1_ENST00000371375.1_Missense_Mutation_p.F354L	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	662	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.F662L(1)|p.F354L(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGTGGCAGTTCATGGACCAGT	0.423000													9	43					7.48243e-07	1.02145e-06	0.006214	1	0
MYO7B	4648	broad.mit.edu	37	2	128346079	128346079	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:128346079G>T	ENST00000389524.4	+	15	1856	c.1803G>T	c.(1801-1803)aaG>aaT	p.K601N	MYO7B_ENST00000409816.2_Missense_Mutation_p.K601N|MYO7B_ENST00000428314.1_Missense_Mutation_p.K601N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	601	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.K601N(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAGAGACCAAGCTGGGCCATG	0.547000													7	52					9.70103e-10	1.4851e-09	0.008291	1	0
KRT6A	3853	broad.mit.edu	37	12	52883764	52883764	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:52883764T>C	ENST00000330722.6	-	6	1234	c.1166A>G	c.(1165-1167)cAg>cGg	p.Q389R		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	389	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	p.Q389R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTCAGCCTCTGGATCATGCG	0.557000													10	27					0	0	0.004007	0	0
SLC27A3	11000	broad.mit.edu	37	1	153747848	153747848	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:153747848C>A	ENST00000271857.2	+	1	1019	c.259C>A	c.(259-261)Cgc>Agc	p.R87S	SLC27A3_ENST00000368661.3_Missense_Mutation_p.R6S|SLC27A3_ENST00000484014.1_3'UTR			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	6					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	p.R6S(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGTGTGCCAGCGCACGCGCGC	0.672000													6	58					0.00116845	0.00133948	0.001168	1	0
DDR2	4921	broad.mit.edu	37	1	162724952	162724952	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:162724952G>A	ENST00000367922.2	+	7	862	c.424G>A	c.(424-426)Gat>Aat	p.D142N	DDR2_ENST00000367921.3_Missense_Mutation_p.D142N	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	142	F5/8 type C.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.D142N(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TCAGGTGCTGGATGGAAATAG	0.458000													13	121					0	0	0.002450	0	0
PCDH18	54510	broad.mit.edu	37	4	138451195	138451195	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:138451195A>T	ENST00000344876.4	-	1	2434	c.2048T>A	c.(2047-2049)gTg>gAg	p.V683E	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.V463E|PCDH18_ENST00000412923.2_Missense_Mutation_p.V683E	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	683	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V683E(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGTACTTGTCACCGACTCTGC	0.418000													61	146					0	0	0.003610	0	0
SNORD113-9	767569	broad.mit.edu	37	14	101412023	101412023	+	RNA	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:101412023G>T	ENST00000365080.1	+	0	38					NR_003237.1																						TCTGAATCTTGGATTTTGATT	0.348000													18	100					8.28177e-16	1.43964e-15	0.007413	1	0
FAM86DP	692099	broad.mit.edu	37	3	75476723	75476723	+	RNA	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:75476723C>A	ENST00000459803.1	-	0	633					NR_024241.1													p.G198G(1)									GAAGGACATTCCCTCGGAGCT	0.612000													5	39					1.12685e-05	1.46826e-05	0.004482	1	0
ZNF267	10308	broad.mit.edu	37	16	31927756	31927756	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:31927756C>T	ENST00000300870.10	+	4	2395	c.2186C>T	c.(2185-2187)tCa>tTa	p.S729L	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	729					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S729L(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AACTCTAGGTCATACCTCATT	0.388000													13	89					0	0	0.003163	0	0
OR52K2	119774	broad.mit.edu	37	11	4470602	4470602	+	Silent	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:4470602A>T	ENST00000325719.4	+	1	78	c.33A>T	c.(31-33)ccA>ccT	p.P11P		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P11P(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAACACATCCAACTGCCTTCT	0.493000													7	44					0	0	0.003080	0	0
SLC9A4	389015	broad.mit.edu	37	2	103120017	103120017	+	Silent	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:103120017G>C	ENST00000295269.4	+	3	1288	c.831G>C	c.(829-831)ggG>ggC	p.G277G		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	277					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.G277G(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGCTTGGAGGGGTATTGTTTG	0.398000													6	64					0	0	0.001168	0	0
ZNF470	388566	broad.mit.edu	37	19	57089368	57089368	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:57089368T>A	ENST00000330619.8	+	6	2257	c.1571T>A	c.(1570-1572)cTc>cAc	p.L524H	ZNF470_ENST00000391709.3_Missense_Mutation_p.L524H|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L524H(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AATGCACACCTCGCGCAACAT	0.463000													11	40					0	0	0.008291	0	0
CHRM3	1131	broad.mit.edu	37	1	240072465	240072465	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:240072465C>A	ENST00000255380.4	+	5	2493	c.1714C>A	c.(1714-1716)Cag>Aag	p.Q572K		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	572					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.Q572K(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GCGCAAGCAGCAGTACCAGCA	0.493000													8	50					2.17888e-05	2.80464e-05	0.006214	1	0
SOX10	6663	broad.mit.edu	37	22	38369876	38369876	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr22:38369876G>T	ENST00000396884.2	-	4	1309	c.1027C>A	c.(1027-1029)Ccc>Acc	p.P343T	SOX10_ENST00000360880.2_Missense_Mutation_p.P343T|POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	343						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity	p.P343N(1)		NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GAGACCGTGGGCAGAGCCACG	0.672000													8	25					5.4927e-09	8.1244e-09	0.004482	1	0
RP1	6101	broad.mit.edu	37	8	55541388	55541388	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:55541388G>T	ENST00000220676.1	+	4	5094	c.4946G>T	c.(4945-4947)gGg>gTg	p.G1649V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1649					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.G1649V(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTTTTTCCTGGGTCTACCCGC	0.373000													35	167					2.42023e-17	4.23683e-17	0.003271	1	0
KCNA2	3737	broad.mit.edu	37	1	111146070	111146070	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:111146070C>G	ENST00000485317.1	-	3	2008	c.1335G>C	c.(1333-1335)aaG>aaC	p.K445N	KCNA2_ENST00000316361.4_Missense_Mutation_p.K445N|KCNA2_ENST00000440270.1_Missense_Mutation_p.K445N|KCNA2_ENST00000369770.3_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	445						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.K445N(1)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		TTCTACTTTTCTTTAGGTCAG	0.438000													20	134					0	0	0.002299	0	0
NCOR2	9612	broad.mit.edu	37	12	124817745	124817745	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:124817745G>A	ENST00000356219.3	-	43	6862	c.6707C>T	c.(6706-6708)aCg>aTg	p.T2236M	NCOR2_ENST00000405201.1_Missense_Mutation_p.T2229M|NCOR2_ENST00000429285.2_Missense_Mutation_p.T2219M|NCOR2_ENST00000397355.1_Missense_Mutation_p.T2220M|NCOR2_ENST00000404121.2_Missense_Mutation_p.T1790M|NCOR2_ENST00000404621.1_Missense_Mutation_p.T2219M	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2240					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	p.T2229M(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCCTGGCTCCGTCATGCCCTC	0.642000													8	24					0	0	0.003080	0	0
MLH1	4292	broad.mit.edu	37	3	37038135	37038135	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:37038135C>G	ENST00000231790.2	+	2	358	c.142C>G	c.(142-144)Caa>Gaa	p.Q48E	MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000435176.1_5'UTR|MLH1_ENST00000492474.1_3'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	48					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.Q48E(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CACAAGTATTCAAGTGATTGT	0.378000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				8	55					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179395788	179395788	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:179395788G>T	ENST00000589042.1	-	358	105778	c.105554C>A	c.(105553-105555)aCc>aAc	p.T35185N	TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T33544N|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T32617N|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T26312N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T26120N|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T26245N|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33544							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T32617N(1)|p.T26245N(1)|p.T32615N(1)|p.T26312N(1)|p.T26120N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATCTCAAAGGTTGATTTGTA	0.493000													30	240					3.1745e-13	5.31943e-13	0.008361	1	0
PDZD2	23037	broad.mit.edu	37	5	32073957	32073957	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:32073957A>T	ENST00000438447.1	+	18	3133	c.2745A>T	c.(2743-2745)aaA>aaT	p.K915N	PDZD2_ENST00000282493.3_Missense_Mutation_p.K915N			O15018	PDZD2_HUMAN	PDZ domain containing 2	915					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.K915N(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGCCTGGAAAACCCAGAGCCA	0.557000													4	91					0	0	0.001168	0	0
NEUROG2	63973	broad.mit.edu	37	4	113436287	113436287	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:113436287C>A	ENST00000313341.3	-	2	671	c.345G>T	c.(343-345)ctG>ctT	p.L115L		NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	115	Helix-loop-helix motif.				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	p.L115L(1)		central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		TGTTGGCCTTCAGTCTACGGG	0.667000													13	26					7.03913e-09	1.03296e-08	0.001368	1	0
FERD3L	222894	broad.mit.edu	37	7	19184913	19184913	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:19184913G>T	ENST00000275461.3	-	1	131	c.73C>A	c.(73-75)Ccg>Acg	p.P25T	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	25					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P25T(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GGGCGTCTCGGGGAGGCCAGG	0.672000													7	90					1.06961e-07	1.49867e-07	0.003080	1	0
GALNT13	114805	broad.mit.edu	37	2	155099310	155099310	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:155099310T>G	ENST00000392825.3	+	6	1145	c.578T>G	c.(577-579)cTt>cGt	p.L193R	GALNT13_ENST00000409237.1_Missense_Mutation_p.L193R	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	193	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L193R(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CGTGCCCGTCTTCGAGGAGCA	0.423000													5	46					0	0	0.000602	0	0
DHX8	1659	broad.mit.edu	37	17	41561531	41561531	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:41561531G>T	ENST00000262415.3	+	1	198	c.126G>T	c.(124-126)ttG>ttT	p.L42F	DHX8_ENST00000540306.1_Missense_Mutation_p.L42F	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	42						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.L42F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ACAATCACTTGGGGATCAACG	0.567000											OREG0024434	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	79					9.8876e-21	1.7812e-20	0.004878	1	0
C1orf173	127254	broad.mit.edu	37	1	75038256	75038256	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:75038256C>G	ENST00000326665.5	-	14	3356	c.3138G>C	c.(3136-3138)agG>agC	p.R1046S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1046	Glu-rich.							p.R1046S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AAATTTCTTTCCTATCATCTT	0.453000													31	165					0	0	0.002096	0	0
AMN1	196394	broad.mit.edu	37	12	31862270	31862270	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:31862270A>C	ENST00000281471.6	-	2	293	c.128T>G	c.(127-129)aTa>aGa	p.I43R	AMN1_ENST00000537562.1_Missense_Mutation_p.I25R|AMN1_ENST00000541931.1_Intron|AMN1_ENST00000541541.1_5'UTR|AMN1_ENST00000542781.1_Intron|AMN1_ENST00000536761.1_Missense_Mutation_p.I25R	NM_001113402.1|NM_001278411.1|NM_001278412.1	NP_001106873.1|NP_001265340.1|NP_001265341.1	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog (S. cerevisiae)	43								p.I43R(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			CATACTCATTATTTTAATCAG	0.328000													6	56					0	0	0.001984	0	0
MUC17	140453	broad.mit.edu	37	7	100676084	100676084	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:100676084C>A	ENST00000306151.4	+	3	1451	c.1387C>A	c.(1387-1389)Cca>Aca	p.P463T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	463	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P463T(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)					CAGCACCACTCCAGTGGCCAG	0.498000													47	229					5.73435e-26	1.05342e-25	0.003610	1	0
ZNF396	252884	broad.mit.edu	37	18	32954025	32954025	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:32954025G>A	ENST00000306346.1	-	2	363	c.232C>T	c.(232-234)Cat>Tat	p.H78Y	ZNF396_ENST00000589332.1_Missense_Mutation_p.H78Y|ZNF396_ENST00000586687.1_Missense_Mutation_p.H78Y	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN	zinc finger protein 396	78	SCAN box.				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H78Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						AGCCAGAGATGACAAAGTTCC	0.597000													6	38					0	0	0.001984	0	0
KCTD5	54442	broad.mit.edu	37	16	2757372	2757372	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:2757372G>T	ENST00000564195.1	+	5	666	c.657G>T	c.(655-657)ccG>ccT	p.P219P	KCTD5_ENST00000301738.4_3'UTR			Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	0					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						ACGTTTTCCCGAGATGTAATG	0.408000													6	48					2.0095e-06	2.71337e-06	0.001984	1	0
GRIK4	2900	broad.mit.edu	37	11	120776196	120776196	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:120776196C>T	ENST00000527524.2	+	13	1757	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	GRIK4_ENST00000438375.2_Silent_p.I490I			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	490					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.I490I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GGGAGCTGATCGCTAGGGTAA	0.592000													27	83					0	0	0.004656	0	0
SLITRK5	26050	broad.mit.edu	37	13	88327942	88327942	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:88327942A>T	ENST00000325089.6	+	2	518	c.299A>T	c.(298-300)gAg>gTg	p.E100V	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	100						integral to membrane		p.E100V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TATCCCAATGAGTTTGTCAAT	0.488000													29	159					0	0	0.002096	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32893958	32893958	+	RNA	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:32893958C>A	ENST00000330048.5	-	0	1299					NR_003083.2																						TCCACACAGTCGGGAGTGTTC	0.582000													11	148					0.000673444	0.000781657	0.008291	1	0
CHRNA7	1139	broad.mit.edu	37	15	32393544	32393544	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:32393544G>T	ENST00000306901.3	+	3	331	c.234G>T	c.(232-234)ctG>ctT	p.L78L	CHRNA7_ENST00000455693.2_5'UTR|CHRNA7_ENST00000454250.3_Silent_p.L107L	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	78					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding	p.L78L(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	ACATTTGGCTGCAAATGGTAA	0.378000													20	105					1.2644e-06	1.71351e-06	0.010504	1	0
TMEM8C	389827	broad.mit.edu	37	9	136384029	136384029	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:136384029G>T	ENST00000339996.3	-	3	467	c.366C>A	c.(364-366)atC>atA	p.I122I	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	122						integral to membrane		p.I122I(1)		NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						TGGCTGTGCCGATGGGGCCCG	0.612000													11	48					5.50884e-06	7.26698e-06	0.001368	1	0
MYO9B	4650	broad.mit.edu	37	19	17212808	17212808	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:17212808G>T	ENST00000595618.1	+	2	433	c.281G>T	c.(280-282)cGg>cTg	p.R94L	MYO9B_ENST00000397274.2_Missense_Mutation_p.R94L|MYO9B_ENST00000594824.1_Missense_Mutation_p.R94L	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	94	Myosin head-like.|Ras-associating.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	p.R94L(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGGCCCCGGCGGGCACAGGAC	0.607000													3	20					0.004672	0.00511925	0.004672	1	0
HSD3B2	3284	broad.mit.edu	37	1	119962113	119962113	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:119962113G>T	ENST00000543831.1	+	3	464	c.215G>T	c.(214-216)tGc>tTc	p.C72F	HSD3B2_ENST00000471656.1_3'UTR|HSD3B2_ENST00000369416.3_Missense_Mutation_p.C72F	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	72					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.C72F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	AAAAGAGCCTGCCAGGACGTC	0.488000													15	43					2.61681e-11	4.20499e-11	0.002450	1	0
SNORD113-9	767569	broad.mit.edu	37	14	101412024	101412024	+	RNA	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:101412024G>T	ENST00000365080.1	+	0	39					NR_003237.1																						CTGAATCTTGGATTTTGATTA	0.348000													19	99					2.39187e-15	4.12889e-15	0.008871	1	0
FLG2	388698	broad.mit.edu	37	1	152329306	152329306	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:152329306G>T	ENST00000388718.5	-	3	1028	c.956C>A	c.(955-957)tCa>tAa	p.S319*	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	319	Ser-rich.						calcium ion binding|structural molecule activity	p.S319*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTAATTCCTGACTGACAGCC	0.483000													32	252					2.81731e-10	4.40353e-10	0.002096	1	0
CPED1	79974	broad.mit.edu	37	7	120906829	120906829	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:120906829A>G	ENST00000310396.5	+	20	3067	c.2600A>G	c.(2599-2601)aAt>aGt	p.N867S		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.N867S(1)									CTTAATTCCAATCACCTGCAA	0.363000													16	117					0	0	0.008871	0	0
CDH5	1003	broad.mit.edu	37	16	66429973	66429973	+	Missense_Mutation	SNP	G	G	A	rs139755397	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:66429973G>A	ENST00000341529.3	+	8	1377	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	410	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	p.R410H(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		TACTCCATCCGCAGGACCAGT	0.498000													6	46					0	0	0.003080	0	0
NEK4	6787	broad.mit.edu	37	3	52802407	52802407	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:52802407G>A	ENST00000233027.5	-	2	509	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	NEK4_ENST00000383721.4_Silent_p.L103L|NEK4_ENST00000535191.1_Intron	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	103	Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.L103L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TTCTCAGGCAGAAGCTGCCCT	0.498000													18	212					0	0	0.007413	0	0
PTPRB	5787	broad.mit.edu	37	12	70954551	70954551	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:70954551C>A	ENST00000334414.6	-	17	4376	c.4332G>T	c.(4330-4332)gaG>gaT	p.E1444D	PTPRB_ENST00000550358.1_Missense_Mutation_p.E1356D|PTPRB_ENST00000538708.1_Missense_Mutation_p.E1136D|PTPRB_ENST00000451516.2_Missense_Mutation_p.E1136D|PTPRB_ENST00000551525.1_Missense_Mutation_p.E1443D|PTPRB_ENST00000550857.1_Missense_Mutation_p.E1136D|PTPRB_ENST00000261266.5_Missense_Mutation_p.E1226D	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1226					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.E1226D(2)|p.E1444D(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAAACCGCCACTCCGTCAGGT	0.493000													17	34					1.02788e-11	1.68076e-11	0.004990	1	0
USH2A	7399	broad.mit.edu	37	1	216173810	216173810	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:216173810C>A	ENST00000366943.2	-	33	6806	c.6420G>T	c.(6418-6420)caG>caT	p.Q2140H	USH2A_ENST00000307340.3_Missense_Mutation_p.Q2140H			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2140					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.Q2140H(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGGTGGCAGCTGTGCTGTGT	0.463000										HNSCC(13;0.011)			11	59					0.000673444	0.000781657	0.008291	1	0
RPL14	9045	broad.mit.edu	37	3	40503438	40503438	+	Missense_Mutation	SNP	A	A	G	rs145518013		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:40503438A>G	ENST00000416518.1	+	6	479	c.361A>G	c.(361-363)Aat>Gat	p.N121D	RPL14_ENST00000338970.6_Silent_p.R121R|RPL14_ENST00000396203.2_Silent_p.R121R			P50914	RL14_HUMAN	ribosomal protein L14	0					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	p.R121R(1)							KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGAGGAACAGAATAATCAAGA	0.378000													3	32					0	0	0.004672	0	0
MTUS2	23281	broad.mit.edu	37	13	29599371	29599371	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:29599371G>A	ENST00000431530.3	+	1	624	c.566G>A	c.(565-567)aGa>aAa	p.R189K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	179						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.R189K(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCTTTGGAAAGAGCAAGCAGC	0.547000													6	55					0	0	0.001168	0	0
KRT82	3888	broad.mit.edu	37	12	52799698	52799698	+	Nonsense_Mutation	SNP	C	C	A	rs145722634		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:52799698C>A	ENST00000257974.2	-	1	441	c.364G>T	c.(364-366)Gag>Tag	p.E122*		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	122	Coil 1A.|Rod.					keratin filament	protein binding|structural constituent of epidermis	p.E122*(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TTGATCTGCTCCTTCTCATCC	0.567000													18	208					3.41278e-10	5.30086e-10	0.004990	1	0
TEX15	56154	broad.mit.edu	37	8	30701025	30701025	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:30701025T>C	ENST00000256246.2	-	1	5583	c.5509A>G	c.(5509-5511)Aat>Gat	p.N1837D		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1837								p.N1837D(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CCACATACATTGATCAACTTT	0.338000													16	64					0	0	0.007413	0	0
FLT3	2322	broad.mit.edu	37	13	28626770	28626770	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:28626770T>C	ENST00000380982.4	-	5	607	c.526A>G	c.(526-528)Atg>Gtg	p.M176V	FLT3_ENST00000241453.7_Missense_Mutation_p.M176V|FLT3_ENST00000537084.1_Missense_Mutation_p.M176V			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	176					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.M176V(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGTTTTCCATTTTTCTAAAG	0.408000			"""Mis, O"""		"""AML, ALL"""								12	58					0	0	0.002450	0	0
UBBP4	23666	broad.mit.edu	37	17	21731278	21731278	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:21731278G>A	ENST00000584755.1	+	2	977	c.580G>A	c.(580-582)Ggc>Agc	p.G194S	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron														p.G194S(1)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GATCAGCAGAGGCTCATCTTT	0.547000													4	42					0	0	0.009096	0	0
USP49	25862	broad.mit.edu	37	6	41774568	41774568	+	Missense_Mutation	SNP	C	C	T	rs148441118	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:41774568C>T	ENST00000394253.3	-	3	483	c.154G>A	c.(154-156)Gac>Aac	p.D52N	USP49_ENST00000373006.1_Missense_Mutation_p.D52N|USP49_ENST00000373010.1_Missense_Mutation_p.D52N|USP49_ENST00000297229.2_Missense_Mutation_p.D52N|USP49_ENST00000373009.3_Missense_Mutation_p.D52N			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	52					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.D52N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGGGCGTGGTCCTCAATATAG	0.587000													7	97					0	0	0.003080	0	0
ACPP	55	broad.mit.edu	37	3	132063770	132063770	+	Splice_Site	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:132063770G>C	ENST00000336375.5	+	7	738		c.e7-1		ACPP_ENST00000475741.1_Splice_Site|ACPP_ENST00000351273.7_Splice_Site	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate							extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	p.?(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CTTTGCTACAGAGTGTTCACA	0.413000													5	75					0	0	0.001168	0	0
BCAS3	54828	broad.mit.edu	37	17	58786659	58786659	+	Silent	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:58786659T>C	ENST00000589222.1	+	5	362	c.294T>C	c.(292-294)agT>agC	p.S98S	BCAS3_ENST00000408905.3_Silent_p.S98S|BCAS3_ENST00000390652.5_Silent_p.S98S|BCAS3_ENST00000588462.1_Silent_p.S98S|BCAS3_ENST00000407086.3_Silent_p.S98S			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	98						nucleus		p.S98S(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TTGGCTACAGTGATGGAATGC	0.373000													30	57					0	0	0.008361	0	0
SIX5	147912	broad.mit.edu	37	19	46270388	46270388	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:46270388C>G	ENST00000317578.6	-	2	1210	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	SIX5_ENST00000560168.1_3'UTR|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071.2	Q8N196	SIX5_HUMAN	SIX homeobox 5	277						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	p.E277Q(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GACTCGTCCTCAGTCGTGGGA	0.677000													3	19					0	0	0.004672	0	0
OR2J2	26707	broad.mit.edu	37	6	29142069	29142069	+	Nonsense_Mutation	SNP	T	T	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:29142069T>G	ENST00000377167.2	+	1	759	c.657T>G	c.(655-657)taT>taG	p.Y219*		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y219*(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCACTACCTATGGTGCCATTG	0.458000													16	105					0	0	0.004990	0	0
SUFU	51684	broad.mit.edu	37	10	104377247	104377247	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:104377247C>T	ENST00000423559.2	+	10	1432	c.1358C>T	c.(1357-1359)tCt>tTt	p.S453F	SUFU_ENST00000369899.2_Intron|SUFU_ENST00000369902.3_Intron			Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	455					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		CACCCCTCCTCTTCTCCCTTG	0.567000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				5	23					0	0	0.001168	0	0
OR2L2	26246	broad.mit.edu	37	1	248202135	248202135	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:248202135C>A	ENST00000366479.2	+	1	662	c.566C>A	c.(565-567)aCa>aAa	p.T189K	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T189K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTAGCCTGCACAGACACTTGG	0.458000													34	216					3.62531e-18	6.42197e-18	0.004289	1	0
HCN4	10021	broad.mit.edu	37	15	73617434	73617434	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:73617434C>G	ENST00000261917.3	-	6	2833	c.1840G>C	c.(1840-1842)Gag>Cag	p.E614Q		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	614					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	p.E614Q(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGGAAGACCTCGAAACGCAGC	0.552000													7	68					0	0	0.003080	0	0
LMX1A	4009	broad.mit.edu	37	1	165182967	165182967	+	Missense_Mutation	SNP	G	G	T	rs149908681		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:165182967G>T	ENST00000342310.3	-	5	962	c.580C>A	c.(580-582)Cgc>Agc	p.R194S	LMX1A_ENST00000294816.2_Missense_Mutation_p.R194S|LMX1A_ENST00000367893.4_Missense_Mutation_p.R194S	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	194						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R194S(1)|p.R194C(1)		NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CGTTTGGGGCGCTTATGGTCC	0.502000													28	262					1.08312e-15	1.87842e-15	0.009535	1	0
SERPINB8	5271	broad.mit.edu	37	18	61645624	61645624	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:61645624G>A	ENST00000397985.2	+	2	338	c.82G>A	c.(82-84)Gta>Ata	p.V28I	HMSD_ENST00000481726.1_3'UTR|SERPINB8_ENST00000353706.2_Missense_Mutation_p.V28I|SERPINB8_ENST00000397988.3_Missense_Mutation_p.V28I|SERPINB8_ENST00000542677.1_Intron	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	28					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	p.V28I(1)		breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CTCAAGAAACGTATTCTTCTC	0.488000													18	55					0	0	0.004990	0	0
ITIH6	347365	broad.mit.edu	37	X	54783745	54783745	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:54783745G>T	ENST00000218436.6	-	8	2791	c.2762C>A	c.(2761-2763)tCt>tAt	p.S921Y		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	921	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.S921Y(1)									TCCAAGGACAGAGGTGGTTGT	0.577000													7	20					2.0095e-06	2.71337e-06	0.001984	1	0
KCNB2	9312	broad.mit.edu	37	8	73849102	73849102	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:73849102C>A	ENST00000523207.1	+	3	2100	c.1512C>A	c.(1510-1512)tcC>tcA	p.S504S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	504					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.S504S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAACAAGCTCCAACAAGTCTT	0.562000													6	114					0.00307968	0.00345072	0.003080	1	0
CLTC	1213	broad.mit.edu	37	17	57762458	57762458	+	Silent	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:57762458T>C	ENST00000269122.3	+	29	4750	c.4476T>C	c.(4474-4476)aaT>aaC	p.N1492N	CLTC_ENST00000393043.1_Silent_p.N1492N|CLTC_ENST00000579456.1_Silent_p.N429N	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1492	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	p.N1492N(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ACTTTGACAATATCTCGCTTG	0.378000			T	"""ALK, TFE3"""	"""ALCL, renal """								4	170					0	0	0.009096	0	0
MCF2L	23263	broad.mit.edu	37	13	113718714	113718714	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:113718714C>T	ENST00000397030.1	+	6	722	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	MCF2L_ENST00000375601.3_Missense_Mutation_p.R200W|MCF2L_ENST00000421756.1_Missense_Mutation_p.R200W|MCF2L_ENST00000375604.2_Missense_Mutation_p.R253W|MCF2L_ENST00000375608.3_Missense_Mutation_p.R226W|MCF2L_ENST00000423482.2_Missense_Mutation_p.R194W|MCF2L_ENST00000375597.4_Missense_Mutation_p.R194W|MCF2L_ENST00000442652.2_Missense_Mutation_p.R226W|MCF2L_ENST00000535094.2_Missense_Mutation_p.R196W|MCF2L_ENST00000434480.2_Missense_Mutation_p.R202W			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	226					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.R253W(1)|p.R200W(1)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CTGCCACTCCCGGTGGCTGTG	0.607000													4	32					0	0	0.009096	0	0
CUL1	8454	broad.mit.edu	37	7	148484115	148484115	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:148484115T>G	ENST00000325222.4	+	13	1661	c.1382T>G	c.(1381-1383)gTa>gGa	p.V461G	CUL1_ENST00000602748.1_Missense_Mutation_p.V461G|CUL1_ENST00000409469.1_Missense_Mutation_p.V461G	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	461					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	p.V461G(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GACAAAGACGTATTTCAGAAG	0.488000													13	87					0	0	0.001368	0	0
OR56A3	390083	broad.mit.edu	37	11	5969356	5969356	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:5969356G>A	ENST00000329564.6	+	1	787	c.780G>A	c.(778-780)ctG>ctA	p.L260L		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L260L(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)		CCATCCTTCTGGTTTTTGTCC	0.527000													25	124					0	0	0.004656	0	0
GADL1	339896	broad.mit.edu	37	3	30880603	30880603	+	Silent	SNP	C	C	A	rs148436135		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:30880603C>A	ENST00000454381.3	-	9	835	c.789G>T	c.(787-789)ggG>ggT	p.G263G	GADL1_ENST00000282538.5_Silent_p.G263G			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	263					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	p.G263G(1)|p.G79G(1)		breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	ACGGTGCTGCCCCCTGTAAGA	0.448000													13	54					1.5842e-08	2.30204e-08	0.001855	1	0
HID1	283987	broad.mit.edu	37	17	72954520	72954520	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:72954520C>T	ENST00000425042.2	-	11	1371	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K		NM_030630.2	NP_085133.1			HID1 domain containing									p.E432K(1)									AAGTTCCGCTCCCCGCTCAGA	0.632000											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	12					0	0	0.009096	0	0
TXNRD1	7296	broad.mit.edu	37	12	104705135	104705135	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:104705135A>G	ENST00000526691.1	+	3	644	c.188A>G	c.(187-189)tAt>tGt	p.Y63C	TXNRD1_ENST00000525566.1_Missense_Mutation_p.Y161C|TXNRD1_ENST00000397736.2_Missense_Mutation_p.Y55C|TXNRD1_ENST00000388854.3_Missense_Mutation_p.Y63C|TXNRD1_ENST00000427956.1_Missense_Mutation_p.Y126C|TXNRD1_ENST00000542918.1_Missense_Mutation_p.Y61C|TXNRD1_ENST00000503506.2_Missense_Mutation_p.Y11C|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000526950.1_Missense_Mutation_p.Y80C|TXNRD1_ENST00000524698.1_Missense_Mutation_p.Y11C|TXNRD1_ENST00000526390.1_Missense_Mutation_p.Y55C|TXNRD1_ENST00000354940.6_Missense_Mutation_p.Y11C|TXNRD1_ENST00000378070.4_Missense_Mutation_p.Y110C|TXNRD1_ENST00000429002.2_Missense_Mutation_p.Y161C	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	161	Glutaredoxin.				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	p.Y161C(1)|p.Y11C(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						CCCAAGTCCTATGACTATGAC	0.438000													5	11					0	0	0.000602	0	0
AKAP9	10142	broad.mit.edu	37	7	91708554	91708554	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:91708554G>A	ENST00000359028.2	+	32	7368	c.7143G>A	c.(7141-7143)aaG>aaA	p.K2381K	AKAP9_ENST00000358100.2_Silent_p.K2381K|AKAP9_ENST00000356239.3_Silent_p.K2369K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2381	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.K2381K(1)|p.K2369K(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTGGACAGAAGACATCAATGA	0.383000			T	BRAF	papillary thyroid								12	86					0	0	0.002450	0	0
ARSF	416	broad.mit.edu	37	X	3002690	3002690	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:3002690G>T	ENST00000381127.1	+	6	1034	c.813G>T	c.(811-813)gcG>gcT	p.A271A	ARSF_ENST00000537104.1_Silent_p.A271A|ARSF_ENST00000359361.2_Silent_p.A271A	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	271						extracellular region	arylsulfatase activity|metal ion binding	p.A271A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGAAGGAAGCGATTTCCTTTT	0.438000													9	18					5.16669e-11	8.23129e-11	0.000978	1	0
ASZ1	136991	broad.mit.edu	37	7	117024854	117024854	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:117024854C>T	ENST00000284629.2	-	6	675	c.613G>A	c.(613-615)Gga>Aga	p.G205R		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	205					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	p.G205R(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TTATTAGCTCCAAGTTCAAGC	0.363000													28	72					0	0	0.004656	0	0
GRM8	2918	broad.mit.edu	37	7	126746619	126746619	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:126746619T>A	ENST00000339582.2	-	3	1466	c.658A>T	c.(658-660)Aca>Tca	p.T220S	GRM8_ENST00000358373.3_Missense_Mutation_p.T220S|GRM8_ENST00000444921.2_Missense_Mutation_p.T220S|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.T220S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	220					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.T220S(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GAAGCCAGTGTCGAAACATAA	0.493000										HNSCC(24;0.065)			4	44					0	0	0.000602	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41447306	41447306	+	RNA	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:41447306A>G	ENST00000599198.1	+	0	805					NR_001278.1													p.E250_K251>DE(1)		NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						CAGTGTGGAGAAGCACCGTGA	0.522000													11	87					0	0	0.000978	0	0
PTPN6	5777	broad.mit.edu	37	12	7064898	7064898	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:7064898C>T	ENST00000456013.1	+	7	1065	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	PTPN6_ENST00000318974.9_Missense_Mutation_p.R275C|PTPN6_ENST00000399448.1_Missense_Mutation_p.R277C|PTPN6_ENST00000447931.2_Missense_Mutation_p.R236C	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	275	Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	p.R275C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GGGCAAGAACCGCTACAAGAA	0.597000													7	20					0	0	0.001984	0	0
HIF1A	3091	broad.mit.edu	37	14	62199167	62199167	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:62199167G>T	ENST00000394997.1	+	7	1073	c.808G>T	c.(808-810)Gaa>Taa	p.E270*	HIF1A_ENST00000557538.1_Nonsense_Mutation_p.E210*|HIF1A_ENST00000539097.1_Nonsense_Mutation_p.E293*|HIF1A_ENST00000337138.4_Nonsense_Mutation_p.E269*|HIF1A_ENST00000323441.6_Nonsense_Mutation_p.E269*|HIF1A-AS2_ENST00000554254.1_lincRNA			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	269	Interaction with TSGA10 (By similarity).|PAS 2.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	p.E269*(1)		breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		TGAGCCAGAAGAACTTTTAGG	0.338000													16	135					1.33834e-09	2.03209e-09	0.007413	1	0
XIRP2	129446	broad.mit.edu	37	2	168114534	168114534	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:168114534A>T	ENST00000409728.1	+	11	1666	c.1577A>T	c.(1576-1578)gAa>gTa	p.E526V	XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.E526V|XIRP2_ENST00000409756.2_Missense_Mutation_p.E493V|XIRP2_ENST00000409605.1_Missense_Mutation_p.E271V|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.E493V	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding	p.E526V(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCTAATGAAGAACCAAATATG	0.363000													10	65					0	0	0.006214	0	0
FYB	2533	broad.mit.edu	37	5	39134992	39134992	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:39134992T>A	ENST00000351578.6	-	8	1830	c.1640A>T	c.(1639-1641)gAa>gTa	p.E547V	FYB_ENST00000515010.1_Missense_Mutation_p.E547V|FYB_ENST00000540520.1_Missense_Mutation_p.E557V|FYB_ENST00000512982.1_Missense_Mutation_p.E547V|FYB_ENST00000505428.1_Missense_Mutation_p.E547V	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	547	SH3.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	p.E547V(3)|p.E557V(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CCATTTTCCTTCTGGGTTGTC	0.413000													25	43					0	0	0.004656	0	0
GOLGA6D	653643	broad.mit.edu	37	15	75586718	75586718	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:75586718G>A	ENST00000434739.3	+	18	2025	c.1984G>A	c.(1984-1986)Gtg>Atg	p.V662M		NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	662								p.V662M(1)		kidney(1)|lung(1)	2						GGACAACAACGTGGAGCCTGC	0.612000													4	39					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179427802	179427802	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:179427802A>G	ENST00000589042.1	-	326	83281	c.83057T>C	c.(83056-83058)gTt>gCt	p.V27686A	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V26045A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V25118A|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18813A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V18621A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18746A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26045	Fibronectin type-III 101.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V18621A(1)|p.V18746A(1)|p.V18813A(1)|p.V25118A(1)|p.V25116A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCACGCAGAACGACCACCTT	0.488000													20	173					0	0	0.001882	0	0
SON	6651	broad.mit.edu	37	21	34923232	34923232	+	Silent	SNP	G	G	T	rs146602176		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr21:34923232G>T	ENST00000356577.4	+	3	2170	c.1695G>T	c.(1693-1695)tcG>tcT	p.S565S	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Silent_p.S565S|SON_ENST00000290239.6_Silent_p.S565S|SON_ENST00000300278.4_Silent_p.S565S	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	565					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.S565S(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GGCAGCCTTCGGTGACTGGGG	0.657000													9	30					0.00448238	0.00496264	0.004482	1	0
KALRN	8997	broad.mit.edu	37	3	124066000	124066000	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:124066000G>A	ENST00000360013.3	+	10	1779	c.1652G>A	c.(1651-1653)tGg>tAg	p.W551*	KALRN_ENST00000240874.3_Nonsense_Mutation_p.W551*|KALRN_ENST00000460856.1_Nonsense_Mutation_p.W551*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	551					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.W551*(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GTGTTGGACTGGATTGAAAAC	0.488000													45	142					0	0	0.003610	0	0
RHBDF2	79651	broad.mit.edu	37	17	74473863	74473863	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:74473863C>T	ENST00000591885.1	-	7	1227	c.677G>A	c.(676-678)cGc>cAc	p.R226H	RHBDF2_ENST00000389760.4_Missense_Mutation_p.R226H|RHBDF2_ENST00000313080.4_Missense_Mutation_p.R255H			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	255					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	p.R255H(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CAGCACCGAGCGCCCCTGTGC	0.667000													11	63					0	0	0.008291	0	0
MDN1	23195	broad.mit.edu	37	6	90361967	90361967	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:90361967C>T	ENST00000369393.3	-	95	15974	c.15859G>A	c.(15859-15861)Gag>Aag	p.E5287K	MDN1_ENST00000428876.1_Missense_Mutation_p.E5287K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5287					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.E5287K(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCTCCAGCTCCTGTCTTAGC	0.433000													11	60					0	0	0.001368	0	0
NPY5R	4889	broad.mit.edu	37	4	164271912	164271912	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:164271912G>T	ENST00000515560.1	+	4	2009	c.487G>T	c.(487-489)Gtc>Ttc	p.V163F	NPY5R_ENST00000338566.3_Missense_Mutation_p.V163F|NPY5R_ENST00000506953.1_Missense_Mutation_p.V163F			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	163					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.V163F(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GATAGCTACTGTCTGGACACT	0.378000													78	220					6.16549e-39	1.15254e-38	0.003610	1	0
PCDHA1	56147	broad.mit.edu	37	5	140167035	140167035	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:140167035G>T	ENST00000504120.2	+	1	1160	c.1160G>T	c.(1159-1161)tGc>tTc	p.C387F	PCDHA1_ENST00000394633.3_Missense_Mutation_p.C387F|PCDHA1_ENST00000378133.3_Missense_Mutation_p.C387F	NM_018900.2	NP_061723.1												p.C387F(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGACTTGCTCCTTAATG	0.567000													24	61					1.37878e-21	2.5081e-21	0.003330	1	0
IFNA14	3448	broad.mit.edu	37	9	21239471	21239471	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:21239471A>G	ENST00000380222.2	-	1	507	c.464T>C	c.(463-465)aTg>aCg	p.M155T		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	155					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.M155T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TTTCTTCTCCATCAGATAAAG	0.443000													8	350					0	0	0.007291	0	0
GRHL1	29841	broad.mit.edu	37	2	10136041	10136041	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:10136041G>T	ENST00000324907.9	+	13	1670	c.1534G>T	c.(1534-1536)Gat>Tat	p.D512Y	GRHL1_ENST00000324883.5_Missense_Mutation_p.D323Y|GRHL1_ENST00000405379.2_Missense_Mutation_p.D512Y|GRHL1_ENST00000480736.1_5'UTR	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	512					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	p.D512Y(1)|p.D323Y(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CGGCACAGAAGATGACTTTGC	0.453000													25	185					1.1804e-14	2.01888e-14	0.003954	1	0
FBN3	84467	broad.mit.edu	37	19	8160275	8160275	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:8160275A>T	ENST00000600128.1	-	46	6183	c.5769T>A	c.(5767-5769)gaT>gaA	p.D1923E	FBN3_ENST00000601739.1_Missense_Mutation_p.D1923E|FBN3_ENST00000270509.2_Missense_Mutation_p.D1923E			Q75N90	FBN3_HUMAN	fibrillin 3	1923	EGF-like 30; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.D1923E(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGTTCTTCCCATCAGCTGTGA	0.567000													4	33					0	0	0.000602	0	0
FAT2	2196	broad.mit.edu	37	5	150945458	150945458	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:150945458G>T	ENST00000261800.5	-	1	3047	c.3035C>A	c.(3034-3036)aCt>aAt	p.T1012N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1012	Cadherin 8.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.T1012N(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGGCAGAGAGTCCTGCGGGC	0.607000													6	27					5.9392e-07	8.13769e-07	0.001168	1	0
SPEM1	374768	broad.mit.edu	37	17	7324723	7324723	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:7324723G>T	ENST00000323675.3	+	3	754	c.729G>T	c.(727-729)ctG>ctT	p.L243L	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	243					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		p.L243L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				CTCCCACCCTGGGCCCAGCAG	0.662000													11	27					6.40141e-05	7.9643e-05	0.000978	1	0
PLEKHS1	79949	broad.mit.edu	37	10	115531801	115531801	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:115531801G>A	ENST00000361048.1	+	8	952	c.625G>A	c.(625-627)Gtg>Atg	p.V209M	PLEKHS1_ENST00000354462.3_5'UTR|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.V23M|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.V121M|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.V203M	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1									p.V121M(1)|p.V209M(1)									CACTCAAGATGTGAAGGAAGA	0.348000													40	101					0	0	0.008740	0	0
NEDD4L	23327	broad.mit.edu	37	18	56033381	56033381	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:56033381G>T	ENST00000456986.1	+	21	2221	c.1621G>T	c.(1621-1623)Ggt>Tgt	p.G541C	NEDD4L_ENST00000256830.9_Missense_Mutation_p.G558C|NEDD4L_ENST00000382850.4_Missense_Mutation_p.G642C|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256832.7_Missense_Mutation_p.G522C|NEDD4L_ENST00000400345.3_Missense_Mutation_p.G662C|NEDD4L_ENST00000357895.5_Missense_Mutation_p.G654C|NEDD4L_ENST00000431212.2_Missense_Mutation_p.G541C|NEDD4L_ENST00000356462.6_Missense_Mutation_p.G598C|NEDD4L_ENST00000435432.2_Missense_Mutation_p.G521C|NEDD4L_ENST00000456173.2_Missense_Mutation_p.G521C|NEDD4L_ENST00000586263.1_Missense_Mutation_p.G634C	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	662					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	p.G642C(1)|p.G662C(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TGACTATGGGGGTGTGGCCAG	0.458000													4	29					0.00909568	0.0098791	0.009096	1	0
ZNF99	7652	broad.mit.edu	37	19	22940689	22940689	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:22940689C>G	ENST00000397104.3	-	5	1748	c.1749G>C	c.(1747-1749)gaG>gaC	p.E583D	ZNF99_ENST00000596209.1_Missense_Mutation_p.E674D					zinc finger protein 99									p.E583D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTAGGGTTTCTCTTCAGTAT	0.363000													6	24					0	0	0.001168	0	0
IL1RL2	8808	broad.mit.edu	37	2	102818106	102818106	+	Missense_Mutation	SNP	G	G	T	rs142080534		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:102818106G>T	ENST00000264257.2	+	5	706	c.580G>T	c.(580-582)Gcg>Tcg	p.A194S	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Missense_Mutation_p.A77S|IL1RL2_ENST00000539491.1_Missense_Mutation_p.A194S	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	194	Ig-like C2-type 2.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	p.A194S(1)|p.A77S(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AGGGAACTACGCGTGTCAAGC	0.473000													8	51					5.18039e-06	6.87025e-06	0.003080	1	0
STAT5B	6777	broad.mit.edu	37	17	40359680	40359680	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:40359680T>C	ENST00000293328.3	-	16	2141	c.1973A>G	c.(1972-1974)gAc>gGc	p.D658G		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	658	SH2.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	p.D658G(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TCCCAAGCGGTCGGCTAGGGA	0.433000													9	77					0	0	0.004482	0	0
WLS	79971	broad.mit.edu	37	1	68659674	68659674	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:68659674G>T	ENST00000262348.4	-	2	596	c.343C>A	c.(343-345)Cag>Aag	p.Q115K	GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000370976.3_Intron|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370971.1_Missense_Mutation_p.Q115K|WLS_ENST00000354777.2_Missense_Mutation_p.Q113K|WLS_ENST00000540432.1_Missense_Mutation_p.Q115K	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	115	Interacts with Wnt proteins (By similarity).				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	p.Q113K(1)|p.Q115K(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						ATGTCCAGCTGCAGGATAAAC	0.448000													8	68					2.17888e-05	2.80464e-05	0.006214	1	0
SPNS3	201305	broad.mit.edu	37	17	4349456	4349456	+	Silent	SNP	C	C	T	rs146044768		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:4349456C>T	ENST00000355530.2	+	4	796	c.516C>T	c.(514-516)cgC>cgT	p.R172R	SPNS3_ENST00000333476.2_Silent_p.R45R|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	172					lipid transport|transmembrane transport	integral to membrane		p.R172R(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						AGCGCACCCGCGTGCTGGCTG	0.617000													8	51					0	0	0.008291	0	0
GOLGB1	2804	broad.mit.edu	37	3	121411320	121411320	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:121411320C>A	ENST00000393667.3	-	14	7001	c.6891G>T	c.(6889-6891)caG>caT	p.Q2297H	GOLGB1_ENST00000340645.5_Missense_Mutation_p.Q2292H	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2292					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.Q2292H(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTCTTCTAGCTGGGACAAAA	0.443000													15	88					1.15088e-07	1.60648e-07	0.004007	1	0
PLEKHM1P	440456	broad.mit.edu	37	17	62796792	62796792	+	RNA	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:62796792G>A	ENST00000582986.1	-	0	1128					NR_024386.1													p.S83F(1)									GTCCTGGGAGGAGGCGCGCAG	0.642000													6	26					0	0	0.001168	0	0
MEDAG	84935	broad.mit.edu	37	13	31480629	31480629	+	Translation_Start_Site	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:31480629G>A	ENST00000380482.4	+	0	302				TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000585870.1_RNA	NM_032849.3	NP_116238.2			mesenteric estrogen-dependent adipogenesis																		GGAAGCAGGCGGTGTGAGGAC	0.746000													3	10					0	0	0.009096	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853572	12853572	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:12853572C>A	ENST00000332296.7	+	2	299	c.196C>A	c.(196-198)Ctg>Atg	p.L66M		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	66								p.L66M(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCTCCCTCTGGGATCACT	0.542000													23	91					7.07758e-08	1.00109e-07	0.004656	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125530543	125530543	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:125530543A>T	ENST00000431078.1	+	17	3062	c.2698A>T	c.(2698-2700)Acg>Tcg	p.T900S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	900	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.T900S(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CACCAGGGAGACGTCGGAGGA	0.527000													6	113					0	0	0.001168	0	0
EBI3	10148	broad.mit.edu	37	19	4231316	4231316	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:4231316T>A	ENST00000221847.5	+	2	249	c.196T>A	c.(196-198)Tac>Aac	p.Y66N		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	66	Fibronectin type-III 1.				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity	p.Y66N(1)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTGCCACGTACAGGTCGGA	0.637000													3	15					0	0	0.009096	0	0
TPR	7175	broad.mit.edu	37	1	186322925	186322925	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:186322925A>T	ENST00000367478.3	-	18	2525	c.2229T>A	c.(2227-2229)caT>caA	p.H743Q	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	743					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.H744_E745>QK(1)|p.H743_E744>QK(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GATTTCTCTCATGAAGTGATG	0.358000			T	NTRK1	papillary thyroid								4	120					0	0	0.009096	0	0
OR4K17	390436	broad.mit.edu	37	14	20586056	20586056	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:20586056T>A	ENST00000315543.4	+	1	491	c.491T>A	c.(490-492)aTg>aAg	p.M164K		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M164K(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTACACTACATGACCATCATG	0.448000													19	81					0	0	0.007413	0	0
PLG	5340	broad.mit.edu	37	6	161135904	161135904	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:161135904G>T	ENST00000308192.9	+	6	689	c.626G>T	c.(625-627)tGg>tTg	p.W209L		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	209	Kringle 2.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.W209L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGCCAGGCCTGGGACTCTCAG	0.473000													5	35					0.00116845	0.00133948	0.001168	1	0
PCDHB6	56130	broad.mit.edu	37	5	140531098	140531098	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:140531098G>A	ENST00000231136.1	+	1	1260	c.1260G>A	c.(1258-1260)acG>acA	p.T420T	PCDHB6_ENST00000543635.1_Silent_p.T284T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		420	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.T420T(2)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCACTATCACGGTCACTGATT	0.532000													9	70					0	0	0.004482	0	0
IGFLR1	79713	broad.mit.edu	37	19	36230816	36230816	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:36230816G>A	ENST00000592537.1	-	4	616	c.516C>T	c.(514-516)acC>acT	p.T172T	IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000344990.3_Intron|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000246532.1_Silent_p.T172T			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	172						integral to membrane|plasma membrane	protein binding|receptor activity	p.T172T(1)		endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						TCACCGCCAAGGTCAGGAGCA	0.602000													16	59					0	0	0.003163	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32210932	32210932	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr20:32210932C>T	ENST00000346541.3	+	6	1086	c.549C>T	c.(547-549)ccC>ccT	p.P183P	CBFA2T2_ENST00000344201.3_Silent_p.P154P|CBFA2T2_ENST00000375279.2_Silent_p.P183P|CBFA2T2_ENST00000397798.2_Silent_p.P154P|CBFA2T2_ENST00000359606.3_Silent_p.P193P|CBFA2T2_ENST00000342704.5_Silent_p.P174P|CBFA2T2_ENST00000397800.1_Silent_p.P154P|CBFA2T2_ENST00000491618.1_3'UTR	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	183	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P174P(1)|p.P183P(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CCAACCTGCCCCTGCTGCAGC	0.557000													4	33					0	0	0.000602	0	0
BAGE2	85319	broad.mit.edu	37	21	11098714	11098714	+	RNA	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr21:11098714C>A	ENST00000470054.1	-	0	211									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		actccagccgccatcttactg	0.622000													8	60					0.000274275	0.000327545	0.004482	1	0
EPB41L3	23136	broad.mit.edu	37	18	5434024	5434024	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:5434024C>T	ENST00000341928.2	-	7	1042	c.702G>A	c.(700-702)caG>caA	p.Q234Q	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Silent_p.Q234Q|EPB41L3_ENST00000540638.2_Silent_p.Q234Q|EPB41L3_ENST00000400111.3_Silent_p.Q234Q|EPB41L3_ENST00000342933.3_Silent_p.Q234Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	234	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.Q234Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CGAGCTCTGACTGGACAGTGT	0.517000													7	70					0	0	0.001984	0	0
BAMBI	25805	broad.mit.edu	37	10	28970327	28970327	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:28970327C>T	ENST00000375533.3	+	2	773	c.217C>T	c.(217-219)Ctt>Ttt	p.L73F		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	73					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding	p.L73F(1)		central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						CCTGGACTCTCTTGCAAGCAC	0.498000													14	55					0	0	0.004007	0	0
WIPI1	55062	broad.mit.edu	37	17	66440705	66440705	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:66440705G>A	ENST00000262139.5	-	4	358	c.359C>T	c.(358-360)tCc>tTc	p.S120F	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.S38F	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	120					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	p.S120F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						AATATAAATGGACTCTTCTAG	0.428000													7	68					0	0	0.003080	0	0
OR2M3	127062	broad.mit.edu	37	1	248367167	248367167	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:248367167C>A	ENST00000456743.1	+	1	836	c.798C>A	c.(796-798)cgC>cgA	p.R266R		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R266R(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATCTGATCGCTCCCCAACAC	0.502000													17	154					5.35267e-07	7.36115e-07	0.007413	1	0
PAPPA2	60676	broad.mit.edu	37	1	176668531	176668531	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:176668531T>G	ENST00000367662.3	+	8	4206	c.3042T>G	c.(3040-3042)gaT>gaG	p.D1014E		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1014					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.D1014E(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGCACGTGGATGGGAAGGTGT	0.517000													27	152					0	0	0.004656	0	0
FLG	2312	broad.mit.edu	37	1	152285620	152285620	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:152285620G>T	ENST00000368799.1	-	3	1777	c.1742C>A	c.(1741-1743)aCc>aAc	p.T581N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	581	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.T581N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGTGCCTGGTGCCGTCTCC	0.562000									Ichthyosis				83	328					1.72036e-36	3.2079e-36	0.003610	1	0
HMBS	3145	broad.mit.edu	37	11	118960402	118960402	+	Silent	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:118960402G>C	ENST00000537841.1	+	6	516	c.225G>C	c.(223-225)ctG>ctC	p.L75L	HMBS_ENST00000278715.3_Silent_p.L92L|HMBS_ENST00000544387.1_Silent_p.L92L|HMBS_ENST00000392841.1_Silent_p.L75L|HMBS_ENST00000543090.1_Silent_p.L74L|HMBS_ENST00000542729.1_Silent_p.L75L|HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000442944.2_Silent_p.L75L			P08397	HEM3_HUMAN	hydroxymethylbilane synthase	92					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity	p.L92L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GAGTGGACCTGGTTGTTCACT	0.562000													15	15					0	0	0.004007	0	0
EYA4	2070	broad.mit.edu	37	6	133849880	133849880	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:133849880G>T	ENST00000367895.5	+	20	2321	c.1857G>T	c.(1855-1857)tgG>tgT	p.W619C	EYA4_ENST00000430974.2_Intron|EYA4_ENST00000531901.1_Missense_Mutation_p.W625C|EYA4_ENST00000355286.6_Missense_Mutation_p.W596C|EYA4_ENST00000525849.1_Missense_Mutation_p.W596C|EYA4_ENST00000452339.2_Missense_Mutation_p.W565C|EYA4_ENST00000431403.2_Missense_Mutation_p.W619C|EYA4_ENST00000355167.3_Missense_Mutation_p.W619C|RP3-323P13.2_ENST00000607033.1_RNA	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	619					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.W619C(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TGCCCTTCTGGAGGATATCCA	0.468000													23	159					3.28513e-13	5.46786e-13	0.003954	1	0
ZNF318	24149	broad.mit.edu	37	6	43322931	43322931	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:43322931T>A	ENST00000361428.2	-	4	2218	c.2141A>T	c.(2140-2142)aAg>aTg	p.K714M	ZNF318_ENST00000318149.3_Missense_Mutation_p.K714M	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	714					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.K714M(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ATGGTCAGACTTTAGGAATGG	0.512000													9	35					0	0	0.006214	0	0
SBF1	6305	broad.mit.edu	37	22	50902833	50902833	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr22:50902833G>A	ENST00000380817.2	-	15	1857	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	SBF1_ENST00000390679.3_Silent_p.N558N|SBF1_ENST00000348911.6_Silent_p.N559N	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	558					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	p.N558K(2)|p.N558N(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGGGCGCTGTTGACATGCA	0.637000													9	22					0	0	0.004482	0	0
OR2A5	393046	broad.mit.edu	37	7	143748389	143748389	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:143748389G>C	ENST00000408906.2	+	1	929	c.895G>C	c.(895-897)Ggt>Cgt	p.G299R		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G299R(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					AGAGGTCAAGGGTGCCCTGAA	0.498000													7	67					0	0	0.003080	0	0
SPDYC	387778	broad.mit.edu	37	11	64940419	64940419	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:64940419G>A	ENST00000377185.2	+	6	863	c.781G>A	c.(781-783)Ggt>Agt	p.G261S		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	261					cell cycle	nucleus	protein kinase binding	p.G261S(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						AAACGCCTGGGGTGGGGACTT	0.567000													11	75					0	0	0.000978	0	0
XDH	7498	broad.mit.edu	37	2	31573033	31573033	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:31573033C>T	ENST00000379416.3	-	25	2736	c.2688G>A	c.(2686-2688)cgG>cgA	p.R896R		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	896					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.R896R(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GCCCAGTGCCCCGGATGTTGG	0.532000													11	84					0	0	0.000978	0	0
AKT3	10000	broad.mit.edu	37	1	243736348	243736348	+	Silent	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:243736348C>G	ENST00000366539.1	-	9	899	c.699G>C	c.(697-699)ctG>ctC	p.L233L	AKT3_ENST00000263826.5_Silent_p.L233L|AKT3_ENST00000336199.5_Silent_p.L233L|AKT3_ENST00000366540.1_Silent_p.L233L			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	233	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.L233L(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			AATGGAAAAACAGCTGCAGGG	0.433000													3	51					0	0	0.004672	0	0
RHAG	6005	broad.mit.edu	37	6	49582494	49582494	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:49582494C>A	ENST00000371175.4	-	5	739	c.713G>T	c.(712-714)aGg>aTg	p.R238M	RHAG_ENST00000229810.7_Missense_Mutation_p.R238M	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	238					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.R238M(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TACAATGGCCCTGCACTGTTT	0.507000													11	67					3.07112e-06	4.10955e-06	0.000978	1	0
USF2	7392	broad.mit.edu	37	19	35769860	35769860	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:35769860G>T	ENST00000222305.3	+	9	871	c.834G>T	c.(832-834)ggG>ggT	p.G278G	USF2_ENST00000379134.3_Silent_p.G147G|USF2_ENST00000343550.5_Silent_p.G211G|USF2_ENST00000594064.1_Silent_p.G276G|USF2_ENST00000600341.1_3'UTR|USF2_ENST00000595068.1_Intron	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	278	Helix-loop-helix motif.				lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.G278G(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTAAAGGAGGGATCCTGTCCA	0.652000													12	36					2.80697e-09	4.21046e-09	0.000978	1	0
SORBS1	10580	broad.mit.edu	37	10	97144023	97144023	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:97144023G>A	ENST00000371247.2	-	16	1569	c.1380C>T	c.(1378-1380)taC>taT	p.Y460Y	SORBS1_ENST00000371246.2_Silent_p.Y482Y|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371241.1_Silent_p.Y250Y|SORBS1_ENST00000371239.1_Silent_p.Y259Y|SORBS1_ENST00000393949.1_Silent_p.Y430Y|SORBS1_ENST00000354106.3_Silent_p.Y430Y|SORBS1_ENST00000371245.3_Silent_p.Y345Y|SORBS1_ENST00000277982.5_Silent_p.Y482Y|SORBS1_ENST00000361941.3_Silent_p.Y460Y|SORBS1_ENST00000353505.5_Silent_p.Y345Y|SORBS1_ENST00000371227.4_Silent_p.Y414Y|SORBS1_ENST00000607232.1_Silent_p.Y249Y|SORBS1_ENST00000371249.2_Silent_p.Y382Y|SORBS1_ENST00000347291.4_Silent_p.Y328Y|SORBS1_ENST00000306402.6_Silent_p.Y291Y			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	460	SoHo.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	p.Y460Y(1)|p.Y345Y(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATCTGGGAGAGTACAGATCTG	0.428000													23	90					0	0	0.004656	0	0
FLT4	2324	broad.mit.edu	37	5	180046339	180046339	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:180046339G>A	ENST00000261937.6	-	19	2753	c.2675C>T	c.(2674-2676)gCg>gTg	p.A892V	FLT4_ENST00000502649.1_Missense_Mutation_p.A892V|FLT4_ENST00000393347.3_Missense_Mutation_p.A892V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	892	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.A892V(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CGACATCAGCGCGCGGTGCTC	0.701000													4	16					0	0	0.000602	0	0
TDRD3	81550	broad.mit.edu	37	13	61059946	61059946	+	Missense_Mutation	SNP	A	A	G	rs17855091		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:61059946A>G	ENST00000196169.3	+	7	1090	c.302A>G	c.(301-303)cAt>cGt	p.H101R	TDRD3_ENST00000377894.2_Missense_Mutation_p.H101R|TDRD3_ENST00000377881.2_Missense_Mutation_p.H101R|TDRD3_ENST00000535286.1_Missense_Mutation_p.H194R	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	101				H -> R (in Ref. 6; AAH60876).	chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	p.H101R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TGTGTATCTCATGTCCAAGTG	0.323000													8	23					0	0	0.006214	0	0
KCNS2	3788	broad.mit.edu	37	8	99440308	99440308	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:99440308C>A	ENST00000287042.4	+	2	451	c.101C>A	c.(100-102)aCg>aAg	p.T34K	KCNS2_ENST00000521839.1_Missense_Mutation_p.T34K	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	34						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.T34K(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CGCTCGCACACGCTGCTGCGC	0.667000													13	23					1.15088e-07	1.60648e-07	0.004007	1	0
ARFGEF2	10564	broad.mit.edu	37	20	47604875	47604875	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr20:47604875G>T	ENST00000371917.4	+	17	2311	c.2311G>T	c.(2311-2313)Gtc>Ttc	p.V771F		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	771	SEC7.				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	p.V771F(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CACTGCTTATGTCCTAGCGTA	0.383000													7	45					1.12685e-05	1.46826e-05	0.004482	1	0
IPMK	253430	broad.mit.edu	37	10	59956367	59956367	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:59956367C>G	ENST00000373935.3	-	6	1043	c.721G>C	c.(721-723)Gaa>Caa	p.E241Q		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	241						nucleus	ATP binding|inositol trisphosphate 6-kinase activity	p.E241Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TTCTGGTTTTCAAACCACTGC	0.363000													15	42					0	0	0.002450	0	0
ACSM2B	348158	broad.mit.edu	37	16	20566759	20566759	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:20566759G>T	ENST00000329697.6	-	4	596	c.428C>A	c.(427-429)aCt>aAt	p.T143N	ACSM2B_ENST00000414188.2_Missense_Mutation_p.T143N|ACSM2B_ENST00000567001.1_Missense_Mutation_p.T143N|ACSM2B_ENST00000565232.1_Missense_Mutation_p.T143N|ACSM2B_ENST00000565322.1_Missense_Mutation_p.T64N	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	143				T -> A (in Ref. 1; AAO17576).	fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.T143N(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CAGTATGTCAGTGGATTTCAT	0.438000													7	79					6.40141e-05	7.9643e-05	0.000978	1	0
PTCHD2	57540	broad.mit.edu	37	1	11589657	11589657	+	Missense_Mutation	SNP	G	G	A	rs12096312		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:11589657G>A	ENST00000294484.6	+	14	2981	c.2843G>A	c.(2842-2844)cGc>cAc	p.R948H	PTCHD2_ENST00000389575.3_Missense_Mutation_p.R948H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	948			R -> H (in dbSNP:rs12096312).		cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.R1165H(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TTCCACGGGCGCGTATGCATG	0.627000													7	46					0	0	0.001984	0	0
ETNPPL	64850	broad.mit.edu	37	4	109664984	109664984	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:109664984G>T	ENST00000296486.3	-	12	1486	c.1332C>A	c.(1330-1332)acC>acA	p.T444T	ETNPPL_ENST00000411864.2_Silent_p.T438T|ETNPPL_ENST00000512646.1_Silent_p.T386T|ETNPPL_ENST00000510706.1_Silent_p.T404T	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase									p.T444T(1)									TCACACTTTCGGTTTTGGTTC	0.328000													18	73					3.62473e-10	5.61833e-10	0.001882	1	0
FAM47E-STBD1	100631383	broad.mit.edu	37	4	77231140	77231140	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:77231140G>T	ENST00000237642.6	+	2	1808	c.1064G>T	c.(1063-1065)tGg>tTg	p.W355L	FAM47E_ENST00000515604.1_3'UTR|FAM47E-STBD1_ENST00000539752.1_Missense_Mutation_p.W206L	NM_003943.4	NP_003934.1												p.W355L(1)									CACGCATGGTGGGGGATTCAC	0.448000													17	81					1.33834e-09	2.03209e-09	0.007413	1	0
OR5D13	390142	broad.mit.edu	37	11	55541472	55541472	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:55541472G>T	ENST00000361760.1	+	1	559	c.559G>T	c.(559-561)Gtt>Ttt	p.V187F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V187F(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTCTGTAATTGTTTCTGCCTC	0.383000													34	101					2.42023e-17	4.23683e-17	0.003271	1	0
PCDH15	65217	broad.mit.edu	37	10	55569195	55569195	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:55569195T>A	ENST00000395445.1	-	36	5009	c.4615A>T	c.(4615-4617)Aca>Tca	p.T1539S	PCDH15_ENST00000395442.1_Missense_Mutation_p.T404S|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.T735S|PCDH15_ENST00000395440.1_Missense_Mutation_p.T473S|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTCTTCCATGTTGTGTATGTA	0.403000										HNSCC(58;0.16)			20	146					0	0	0.008871	0	0
TBX5	6910	broad.mit.edu	37	12	114803991	114803991	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:114803991A>C	ENST00000310346.4	-	8	1627	c.961T>G	c.(961-963)Tac>Gac	p.Y321D	TBX5_ENST00000405440.2_Missense_Mutation_p.Y321D|TBX5_ENST00000526441.1_Missense_Mutation_p.Y321D|TBX5_ENST00000349716.5_Missense_Mutation_p.Y271D	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	321					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.Y321D(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GTACAATGGTAAATTTGGCTA	0.542000													13	34					0	0	0.002450	0	0
PTPN4	5775	broad.mit.edu	37	2	120714508	120714508	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:120714508C>T	ENST00000263708.2	+	21	2840	c.2069C>T	c.(2068-2070)cCt>cTt	p.P690L	PTPN4_ENST00000544261.1_Missense_Mutation_p.P323L	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	690	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	p.P690L(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GATATTTCGCCTTGTAAGTAT	0.289000													15	105					0	0	0.002450	0	0
FCRLA	84824	broad.mit.edu	37	1	161681852	161681852	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:161681852T>A	ENST00000540926.1	+	5	939	c.646T>A	c.(646-648)Tac>Aac	p.Y216N	FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000294796.4_Missense_Mutation_p.Y76N|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000309691.6_Missense_Mutation_p.Y121N|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367957.2_Missense_Mutation_p.Y87N|FCRLA_ENST00000236938.6_Missense_Mutation_p.Y227N|FCRLA_ENST00000540521.1_Missense_Mutation_p.Y93N|FCRLA_ENST00000546024.1_Missense_Mutation_p.Y138N|FCRLA_ENST00000367959.2_Missense_Mutation_p.Y233N|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.Y216N			Q7L513	FCRLA_HUMAN	Fc receptor-like A	210	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region		p.Y210N(1)|p.Y233N(1)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTTCTCCTTCTACAAGGATGG	0.562000													16	112					0	0	0.006122	0	0
ABCA7	10347	broad.mit.edu	37	19	1055931	1055931	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:1055931G>A	ENST00000263094.6	+	31	4462	c.4231G>A	c.(4231-4233)Gag>Aag	p.E1411K	ABCA7_ENST00000435683.2_Missense_Mutation_p.E1273K|ABCA7_ENST00000433129.1_Missense_Mutation_p.E1411K	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1411					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.E1411K(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGGTGAATGAGGTCAGGTG	0.632000													9	30					0	0	0.008291	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32162056	32162056	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr20:32162056G>T	ENST00000346541.3	+	2	587	c.50G>T	c.(49-51)aGg>aTg	p.R17M	CBFA2T2_ENST00000344201.3_Intron|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.R17M|CBFA2T2_ENST00000397798.2_5'UTR|CBFA2T2_ENST00000342704.5_Intron|CBFA2T2_ENST00000397800.1_Intron	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	17						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R17M(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GTCCTGGCAAGGCAATGGAAA	0.368000													24	75					3.28513e-13	5.46786e-13	0.003954	1	0
VWC2L	402117	broad.mit.edu	37	2	215278951	215278951	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:215278951C>T	ENST00000312504.5	+	2	836	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_Silent_p.L12L|AC107218.3_ENST00000437883.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	12						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TTGCATACTTCTGTTGGTCAT	0.433000													13	77					0	0	0.002450	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													5	55					0	0	0.001168	0	0
ZNF704	619279	broad.mit.edu	37	8	81577099	81577099	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:81577099C>A	ENST00000327835.3	-	6	1109	c.878G>T	c.(877-879)cGc>cTc	p.R293L		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	293						intracellular	zinc ion binding	p.R293L(1)		lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			GGGAGCTGAGCGGCTCAACGG	0.537000													5	112					0.000602214	0.000704477	0.000602	1	0
HTR1A	3350	broad.mit.edu	37	5	63256706	63256706	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:63256706C>T	ENST00000323865.3	-	1	1074	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	281					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.V281M(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCTTGCCTCACCGCGCCATTG	0.652000													11	39					0	0	0.000978	0	0
TRIP11	9321	broad.mit.edu	37	14	92491728	92491728	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:92491728C>T	ENST00000267622.4	-	3	611	c.238G>A	c.(238-240)Gag>Aag	p.E80K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	80					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	p.E80K(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCATGTTTCTCTTCTAGATCA	0.303000			T	PDGFRB	AML								5	41					0	0	0.000602	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23383458	23383458	+	Missense_Mutation	SNP	G	G	T	rs149351958		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:23383458G>T	ENST00000258729.3	-	9	1312	c.956C>A	c.(955-957)aCg>aAg	p.T319K		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	319	KH 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.T319K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						ATTATACAGCGTCAATTCCTG	0.388000													27	96					1.77063e-15	3.0636e-15	0.005443	1	0
GPR50	9248	broad.mit.edu	37	X	150349228	150349228	+	Silent	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:150349228A>G	ENST00000218316.3	+	2	1242	c.1173A>G	c.(1171-1173)agA>agG	p.R391R		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	391	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.R391R(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCCATTCCAGATCCTCCTCTG	0.577000													15	49					0	0	0.003163	0	0
NEK2	4751	broad.mit.edu	37	1	211848791	211848791	+	Silent	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:211848791A>G	ENST00000366999.4	-	1	169	c.31T>C	c.(31-33)Ttg>Ctg	p.L11L	NEK2_ENST00000540251.1_Intron|NEK2_ENST00000366998.3_Silent_p.L11L	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	11	Protein kinase.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity	p.L11L(1)		breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		ATGGTGTACAACACTTCATAG	0.652000													21	72					0	0	0.001882	0	0
P2RY12	64805	broad.mit.edu	37	3	151055929	151055929	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:151055929G>A	ENST00000302632.3	-	3	1004	c.705C>T	c.(703-705)aaC>aaT	p.N235N	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	235					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity	p.N235N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	AAACTTTGACGTTCACCTTTT	0.388000													12	55					0	0	0.001368	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41447305	41447305	+	RNA	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:41447305G>T	ENST00000599198.1	+	0	804					NR_001278.1													p.E250_K251>DE(1)		NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						ACAGTGTGGAGAAGCACCGTG	0.517000													10	88					3.86212e-05	4.87847e-05	0.008291	1	0
NUP214	8021	broad.mit.edu	37	9	134103703	134103703	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:134103703G>T	ENST00000359428.5	+	33	6203	c.6059G>T	c.(6058-6060)aGc>aTc	p.S2020I	NUP214_ENST00000411637.2_Missense_Mutation_p.S2010I|NUP214_ENST00000451030.1_Missense_Mutation_p.S2021I|NUP214_ENST00000483497.2_Missense_Mutation_p.S846I			P35658	NU214_HUMAN	nucleoporin 214kDa	2020	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	p.S2020I(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GCAGCTGCCAGCGCAGGAGGA	0.607000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								8	38					0.000274275	0.000327545	0.004482	1	0
TREM2	54209	broad.mit.edu	37	6	41127558	41127558	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:41127558C>A	ENST00000373113.3	-	3	547	c.454G>T	c.(454-456)Gat>Tat	p.D152Y	TREM2_ENST00000373122.4_Missense_Mutation_p.D152Y|TREM2_ENST00000338469.3_Missense_Mutation_p.D152Y	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	152					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	p.D152Y(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACATGGGCATCCTCGAAGCTC	0.627000													5	33					3.59834e-05	4.56854e-05	0.001168	1	0
CTNND2	1501	broad.mit.edu	37	5	11411693	11411693	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:11411693G>T	ENST00000304623.8	-	5	583	c.394C>A	c.(394-396)Cag>Aag	p.Q132K	CTNND2_ENST00000503622.1_Missense_Mutation_p.Q41K|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.Q132K|CTNND2_ENST00000511377.1_Missense_Mutation_p.Q41K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	132					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.Q132K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCTGATTCCTGTAGTGACCTA	0.383000													17	114					2.48551e-13	4.18375e-13	0.004990	1	0
ZNF676	163223	broad.mit.edu	37	19	22363427	22363427	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:22363427G>T	ENST00000397121.2	-	3	1409	c.1092C>A	c.(1090-1092)ccC>ccA	p.P364P		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P364P(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CACATTTGTAGGGTTTCTCTC	0.388000													9	53					3.09899e-07	4.27763e-07	0.004482	1	0
USP51	158880	broad.mit.edu	37	X	55513497	55513497	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:55513497C>A	ENST00000500968.3	-	2	1958	c.1876G>T	c.(1876-1878)Gcc>Tcc	p.A626S	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	626					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.A626S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TTAGTAGAGGCCAAAAACGGA	0.433000													8	13					0.000442599	0.00052519	0.006214	1	0
STRC	161497	broad.mit.edu	37	15	43901484	43901484	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:43901484T>A	ENST00000450892.2	-	16	3624	c.3547A>T	c.(3547-3549)Agg>Tgg	p.R1183W	STRC_ENST00000541030.1_Missense_Mutation_p.R410W	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1183					sensory perception of sound	cell surface		p.R1183W(1)		skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TGCAGATTCCTGAGGGTAAGG	0.473000													14	80					0	0	0.003163	0	0
CDH18	1016	broad.mit.edu	37	5	19520818	19520818	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:19520818T>G	ENST00000507958.1	-	12	2450	c.1460A>C	c.(1459-1461)gAa>gCa	p.E487A	CDH18_ENST00000382275.1_Missense_Mutation_p.E487A|CDH18_ENST00000511273.1_Missense_Mutation_p.E487A|CDH18_ENST00000506372.1_Missense_Mutation_p.E487A|CDH18_ENST00000274170.4_Missense_Mutation_p.E487A|CDH18_ENST00000502796.1_Missense_Mutation_p.E487A			Q13634	CAD18_HUMAN	cadherin 18, type 2	487	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E487A(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCTGGCAAGTTCGGGTGGATT	0.378000													8	104					0	0	0.008291	0	0
KRT38	8687	broad.mit.edu	37	17	39594374	39594374	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:39594374G>T	ENST00000246646.3	-	6	1211	c.1212C>A	c.(1210-1212)taC>taA	p.Y404*		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	404	Coil 2.|Rod.					intermediate filament	structural molecule activity	p.Y404*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GAAGGTTCCGGTACGTGGCAA	0.547000													9	39					4.68919e-08	6.68344e-08	0.008291	1	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744512	31744512	+	Missense_Mutation	SNP	G	G	T	rs143324515	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr21:31744512G>T	ENST00000399889.2	-	1	45	c.20C>A	c.(19-21)tCt>tAt	p.S7Y		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	7						intermediate filament		p.S7Y(1)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GAAGTTTCCAGAGCAGCAGTT	0.502000													14	87					1.99824e-07	2.77886e-07	0.004990	1	0
DMD	1756	broad.mit.edu	37	X	32398634	32398634	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:32398634C>G	ENST00000357033.4	-	34	5044	c.4838G>C	c.(4837-4839)tGg>tCg	p.W1613S	DMD_ENST00000378677.2_Missense_Mutation_p.W1609S	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1613	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.W272S(1)|p.W1608S(1)|p.W1609S(1)|p.W1613S(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TACCTTTCCCCAGGCAACTTC	0.358000													15	52					0	0	0.003163	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29907150	29907150	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:29907150T>A	ENST00000308713.5	-	4	1070	c.543A>T	c.(541-543)gaA>gaT	p.E181D	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.E137D|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.E111D|SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000562159.1_Intron	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	181	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane		p.E111D(1)|p.E181D(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCACATACCCTTCGCCCTCGG	0.562000													11	68					0	0	0.001368	0	0
LRIG3	121227	broad.mit.edu	37	12	59274658	59274658	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:59274658C>T	ENST00000320743.3	-	13	1792	c.1506G>A	c.(1504-1506)acG>acA	p.T502T	LRIG3_ENST00000379141.4_Silent_p.T442T	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	502	Ig-like C2-type 1.					integral to membrane		p.T502T(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTGGCTGAACCGTGATCTGGG	0.423000			T	ROS1	NSCLC								17	142					0	0	0.008871	0	0
TGFBI	7045	broad.mit.edu	37	5	135390519	135390519	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:135390519G>A	ENST00000442011.2	+	10	1540	c.1379G>A	c.(1378-1380)gGc>gAc	p.G460D	TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	460	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	p.G460D(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTCTGGGCGGCAAAAAACTG	0.423000													5	223					0	0	0.000602	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411259	105411259	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:105411259G>T	ENST00000333244.5	-	7	10648	c.10529C>A	c.(10528-10530)tCc>tAc	p.S3510Y	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3510						nucleus		p.S3510Y(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGCATGGAGGAGAGGCTCAC	0.637000													12	116					3.27435e-08	4.69387e-08	0.002450	1	0
CPNE2	221184	broad.mit.edu	37	16	57144694	57144694	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:57144694G>T	ENST00000535318.2	+	3	401	c.40G>T	c.(40-42)Gca>Tca	p.A14S	CPNE2_ENST00000565874.1_Missense_Mutation_p.A14S|CPNE2_ENST00000290776.8_Missense_Mutation_p.A14S|CPNE2_ENST00000537605.1_5'UTR			Q96FN4	CPNE2_HUMAN	copine II	14	C2 1.							p.A14S(1)		central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				AGCAGCGGGGGCAGCCCCCAT	0.642000													8	64					5.18039e-06	6.87025e-06	0.003080	1	0
FNDC3A	22862	broad.mit.edu	37	13	49771970	49771970	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:49771970A>T	ENST00000492622.2	+	21	2755	c.2450A>T	c.(2449-2451)aAa>aTa	p.K817I	FNDC3A_ENST00000541916.1_Missense_Mutation_p.K817I|FNDC3A_ENST00000398316.3_Missense_Mutation_p.K761I	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	817	Fibronectin type-III 6.					Golgi membrane|integral to membrane		p.K817I(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TATGAAATAAAAGGACTTTCA	0.408000													17	47					0	0	0.004990	0	0
IL33	90865	broad.mit.edu	37	9	6252962	6252962	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:6252962T>A	ENST00000381434.3	+	4	453	c.440T>A	c.(439-441)gTt>gAt	p.V147D	IL33_ENST00000456383.2_Intron|IL33_ENST00000417746.2_Intron	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	147					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity	p.V147D(1)		breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		GAGATATATGTTGAAGACTTG	0.269000													12	41					0	0	0.001855	0	0
PARP14	54625	broad.mit.edu	37	3	122432421	122432421	+	Splice_Site	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:122432421G>T	ENST00000474629.2	+	10	4035		c.e10+1			NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	p.?(2)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTCAAAGCAGGTACTTGTACA	0.373000													17	40					7.21436e-19	1.28102e-18	0.008871	1	0
MMS22L	253714	broad.mit.edu	37	6	97677061	97677061	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:97677061T>A	ENST00000275053.4	-	14	2013	c.1748A>T	c.(1747-1749)cAg>cTg	p.Q583L	MMS22L_ENST00000369251.2_Missense_Mutation_p.Q543L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	583					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	p.Q583L(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAGATTTTTCTGGGCATACAT	0.438000													10	52					0	0	0.008291	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361289	105361289	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:105361289C>A	ENST00000297581.2	+	2	558	c.509C>A	c.(508-510)aCc>aAc	p.T170N	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.T170N|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	170					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.T170N(1)									TGGAACCAGACCCTGGCAGTC	0.458000													21	127					4.26978e-12	7.02813e-12	0.003330	1	0
TPD52L3	89882	broad.mit.edu	37	9	6328769	6328769	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:6328769G>T	ENST00000344545.5	+	1	421	c.174G>T	c.(172-174)ggG>ggT	p.G58G	TPD52L3_ENST00000381428.1_Silent_p.G58G|TPD52L3_ENST00000314556.3_Silent_p.G58G	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	58							protein binding	p.G58G(2)		large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		GACGCTGTGGGGAACTCAAGA	0.507000													9	42					5.4927e-09	8.1244e-09	0.004482	1	0
UGT2B28	54490	broad.mit.edu	37	4	70152549	70152549	+	Missense_Mutation	SNP	C	C	A	rs144043239		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:70152549C>A	ENST00000335568.5	+	3	952	c.950C>A	c.(949-951)aCa>aAa	p.T317K	UGT2B28_ENST00000511240.1_Missense_Mutation_p.T317K	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	317					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.T317K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AGTAACATGACAGCAGAAAGG	0.418000													12	101					9.31168e-06	1.22401e-05	0.001855	1	0
OR51A7	119687	broad.mit.edu	37	11	4929527	4929527	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:4929527T>A	ENST00000359350.4	+	1	928	c.928T>A	c.(928-930)Tgt>Agt	p.C310S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C310S(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTAATGTATGTGGGAGATA	0.388000													7	50					0	0	0.003080	0	0
KIAA1468	57614	broad.mit.edu	37	18	59888679	59888679	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:59888679G>T	ENST00000256858.6	+	5	1055	c.807G>T	c.(805-807)aaG>aaT	p.K269N	KIAA1468_ENST00000398130.2_Missense_Mutation_p.K269N			Q9P260	K1468_HUMAN	KIAA1468	269	LisH.						binding	p.K269N(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TTTTATTGAAGAATAACTATA	0.299000													8	61					0.000157383	0.000191329	0.003080	1	0
MET	4233	broad.mit.edu	37	7	116339431	116339431	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:116339431G>T	ENST00000397752.3	+	2	493	c.293G>T	c.(292-294)tGt>tTt	p.C98F	MET_ENST00000436117.2_Missense_Mutation_p.C98F|MET_ENST00000318493.6_Missense_Mutation_p.C98F	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	98	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.C98F(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGTTTCCCATGTCAGGACTGC	0.438000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				8	64					0.000157383	0.000191329	0.003080	1	0
RBBP4	5928	broad.mit.edu	37	1	33133872	33133872	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:33133872C>A	ENST00000373493.5	+	4	516	c.357C>A	c.(355-357)atC>atA	p.I119I	RBBP4_ENST00000544435.1_Intron|RBBP4_ENST00000414241.3_Silent_p.I118I|RBBP4_ENST00000373485.1_Silent_p.I119I|RBBP4_ENST00000524393.1_Intron|RBBP4_ENST00000458695.2_Silent_p.I84I	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	119					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding	p.I119I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AAATAGAAATCAAGATCAACC	0.378000													7	35					0.00198382	0.0022363	0.001984	1	0
SH3BP5	9467	broad.mit.edu	37	3	15311335	15311335	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:15311335T>A	ENST00000383791.3	-	4	600	c.380A>T	c.(379-381)gAg>gTg	p.E127V	SH3BP5_ENST00000408919.3_5'UTR|SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000426925.1_5'UTR	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	127					intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding	p.E127V(1)		NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						ACGGAGCACCTCTGTGGCCCT	0.612000													27	123					0	0	0.003271	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555778	155555778	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:155555778T>A	ENST00000295101.2	+	1	968	c.491T>A	c.(490-492)tTc>tAc	p.F164Y	KCNJ3_ENST00000544049.1_Missense_Mutation_p.F164Y	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	164					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.F164Y(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CTCTTCCTCTTCCAGTCCATC	0.577000													5	47					0	0	0.001168	0	0
SLC22A7	10864	broad.mit.edu	37	6	43267156	43267156	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:43267156T>A	ENST00000372585.5	+	3	523	c.428T>A	c.(427-429)cTg>cAg	p.L143Q	SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Missense_Mutation_p.L141Q|SLC22A7_ENST00000372574.3_Missense_Mutation_p.L141Q	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	143						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.L143Q(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CAGAAAGGTCTGAACAGAGCT	0.582000													4	63					0	0	0.000602	0	0
EPB41L2	2037	broad.mit.edu	37	6	131216229	131216229	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:131216229C>A	ENST00000337057.3	-	9	1448	c.1267G>T	c.(1267-1269)Gtg>Ttg	p.V423L	EPB41L2_ENST00000525271.1_Missense_Mutation_p.V423L|EPB41L2_ENST00000530481.1_Missense_Mutation_p.V423L|EPB41L2_ENST00000525193.1_Missense_Mutation_p.V423L|EPB41L2_ENST00000529208.1_Missense_Mutation_p.V423L|EPB41L2_ENST00000368128.2_Missense_Mutation_p.V423L|EPB41L2_ENST00000528282.1_Missense_Mutation_p.V423L|EPB41L2_ENST00000527411.1_Missense_Mutation_p.V423L|EPB41L2_ENST00000445890.2_Missense_Mutation_p.V423L|EPB41L2_ENST00000527659.1_Missense_Mutation_p.V423L|EPB41L2_ENST00000392427.3_Missense_Mutation_p.V423L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	423	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	p.V423L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTAGCACACACGCCCAGCTTG	0.403000													9	65					0.000673444	0.000781657	0.008291	1	0
FOXG1	2290	broad.mit.edu	37	14	29237327	29237327	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:29237327G>C	ENST00000382535.3	+	2	1211	c.842G>C	c.(841-843)cGg>cCg	p.R281P	FOXG1_ENST00000313071.4_Missense_Mutation_p.R281P			P55316	FOXG1_HUMAN	forkhead box G1	281				R -> P (in Ref. 1; CAA52239/CAA52240 and 2; CAA55038).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.R281P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ACCACCTCGCGGGCCAAGCTG	0.701000													5	22					0	0	0.000602	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118196236	118196236	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:118196236C>T	ENST00000369230.3	+	2	209	c.63C>T	c.(61-63)tgC>tgT	p.C21C		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	21					lipid catabolic process	extracellular region	triglyceride lipase activity	p.C21C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AAGAAGTTTGCTATGAAAGGT	0.423000													13	104					0	0	0.002450	0	0
FAT1	2195	broad.mit.edu	37	4	187558005	187558005	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:187558005G>A	ENST00000441802.2	-	5	3915	c.3706C>T	c.(3706-3708)Ctt>Ttt	p.L1236F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1236	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.L1236F(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTTTCATCAAGGATTTTCACA	0.398000										HNSCC(5;0.00058)			33	253					0	0	0.002445	0	0
IGKV2D-29	28882	broad.mit.edu	37	2	89987023	89987023	+	RNA	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:89987023C>A	ENST00000491977.1	+	0	334																											GAAAATCAGCCGGGTGGAGGC	0.517000													6	65					5.4927e-09	8.1244e-09	0.004482	1	0
RERE	473	broad.mit.edu	37	1	8424286	8424286	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:8424286delC	ENST00000337907.3	-	16	2204	c.1570delG	c.(1570-1572)agfs	p.E524fs	RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Frame_Shift_Del_p.E256fs|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000400908.2_Frame_Shift_Del_p.E524fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	524					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGGATGTTCTCCCGGCCTCCG	0.592													22	59	---	---	---	---					
COL16A1	1307	broad.mit.edu	37	1	32155450	32155450	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:32155450delA	ENST00000373672.3	-	23	2028	c.1512delT	c.(1510-1512)ggfs	p.G504fs	COL16A1_ENST00000373668.3_Frame_Shift_Del_p.G504fs|COL16A1_ENST00000271069.6_Frame_Shift_Del_p.G504fs	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	504	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CACAGGGGTCACCCTAGCAGA	0.597													8	42	---	---	---	---					
LCE2B	26239	broad.mit.edu	37	1	152659518	152659518	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:152659518delG	ENST00000368780.3	+	2	253	c.199delG	c.(199-201)ggfs	p.G67fs	LCE2B_ENST00000417924.2_Frame_Shift_Del_p.G67fs	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	67	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCAACTCTGGGGCTGGTGG	0.672													20	238	---	---	---	---					
RNASEL	6041	broad.mit.edu	37	1	182554909	182554909	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:182554909delC	ENST00000367559.3	-	2	1286	c.1033delG	c.(1033-1035)cafs	p.A346fs	RNASEL_ENST00000539397.1_Frame_Shift_Del_p.A346fs|RNASEL_ENST00000444138.1_Frame_Shift_Del_p.A346fs	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	346					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TTCAGGGCTGCCCCCCAGTGT	0.453													7	65	---	---	---	---					
PSEN2	5664	broad.mit.edu	37	1	227081775	227081775	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:227081775delG	ENST00000366782.1	+	12	1739	c.1239delG	c.(1237-1239)acfs	p.T413fs	PSEN2_ENST00000366783.3_Frame_Shift_Del_p.T380fs|PSEN2_ENST00000471728.1_3'UTR|PSEN2_ENST00000340188.4_Frame_Shift_Del_p.T347fs|PSEN2_ENST00000391872.2_Frame_Shift_Del_p.T413fs|PSEN2_ENST00000422240.2_Frame_Shift_Del_p.T379fs|PSEN2_ENST00000472139.2_Frame_Shift_Del_p.T236fs			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	380					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				CGGCTGCCACGGGCAGCGGGG	0.642													12	58	---	---	---	---					
OR14K1	343170	broad.mit.edu	37	1	247902226	247902227	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:247902226_247902227insA	ENST00000283225.2	+	1	310_311	c.310_311insA	c.(310-312)gctfs	p.A104fs	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1									p.L104M(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						CTTGGTGGTACTGCTGGCTGGA	0.550													11	79	---	---	---	---					
ANO7	50636	broad.mit.edu	37	2	242128053	242128053	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:242128053delG	ENST00000274979.8	+	1	130	c.27delG	c.(25-27)gcfs	p.A9fs	ANO7_ENST00000402530.3_Frame_Shift_Del_p.A9fs|ANO7_ENST00000402430.3_Frame_Shift_Del_p.A9fs	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	9						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CTGCCTGGGCGGGGCTCCAAG	0.687													24	39	---	---	---	---					
CNTN4	152330	broad.mit.edu	37	3	2777972	2777973	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:2777972_2777973insA	ENST00000397461.1	+	4	513_514	c.129_130insA	c.(127-132)gaaaaafs	p.EK43fs	CNTN4_ENST00000418658.1_Frame_Shift_Ins_p.EK43fs|CNTN4_ENST00000427331.1_Frame_Shift_Ins_p.EK43fs	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	43	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATTCTGAGGAGAAAAAAGTGAA	0.361													37	157	---	---	---	---					
CSN1S1	1446	broad.mit.edu	37	4	70810648	70810648	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:70810648delC	ENST00000246891.4	+	15	532	c.483delC	c.(481-483)ttfs	p.F161fs	CSN1S1_ENST00000507772.1_Frame_Shift_Del_p.F153fs|CSN1S1_ENST00000505782.1_Frame_Shift_Del_p.F145fs|CSN1S1_ENST00000444405.3_Frame_Shift_Del_p.F152fs|CSN1S1_ENST00000507763.1_Frame_Shift_Del_p.F152fs	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	161						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						ATGTTCCTTTCCCACCGTTTT	0.408													39	261	---	---	---	---					
NDST3	9348	broad.mit.edu	37	4	119145679	119145679	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:119145679delG	ENST00000296499.5	+	7	1976	c.1573delG	c.(1573-1575)ggfs	p.G525fs	NDST3_ENST00000433996.2_Frame_Shift_Del_p.G444fs	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	525	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GTCCAACTATGGGAATGACCG	0.408													11	158	---	---	---	---					
DNAH8	1769	broad.mit.edu	37	6	38820518	38820518	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:38820518delG	ENST00000359357.3	+	38	5118	c.4864delG	c.(4864-4866)cafs	p.A1622fs	DNAH8_ENST00000449981.2_Frame_Shift_Del_p.A1839fs|DNAH8_ENST00000441566.1_Frame_Shift_Del_p.A1622fs					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GACATTTCATGCAAAAGACTA	0.383													30	88	---	---	---	---					
MAD2L1BP	9587	broad.mit.edu	37	6	43604373	43604375	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:43604373_43604375delCTT	ENST00000451025.2	+	3	608_610	c.398_400delCTT	c.(397-402)cct>c	p.PS133del	MAD2L1BP_ENST00000372171.4_In_Frame_Del_p.PS101del|MAD2L1BP_ENST00000508232.1_3'UTR	NM_001003690.1	NP_001003690.1	Q15013	MD2BP_HUMAN	MAD2L1 binding protein	101				S -> G (in Ref. 2; BAG59665).	mitotic cell cycle checkpoint|regulation of exit from mitosis	cytoplasm|nucleus|spindle	protein binding			breast(1)|large_intestine(1)|lung(3)	5	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TACCGAAAACCTTCTCCCCAGGT	0.483													13	97	---	---	---	---					
ZNF479	90827	broad.mit.edu	37	7	57188660	57188661	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:57188660_57188661insT	ENST00000331162.4	-	5	731_732	c.461_462insA	c.(460-462)aaafs	p.K154fs		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N154K(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GAAATATTTTGTTTTGGGTAGT	0.292													10	119	---	---	---	---					
RIMS2	9699	broad.mit.edu	37	8	104987714	104987715	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:104987714_104987715insA	ENST00000507740.1	+	13	2519_2520	c.2283_2284insA	c.(2281-2286)ccgtgtfs	p.C762fs	RIMS2_ENST00000436393.2_Frame_Shift_Ins_p.C748fs|RIMS2_ENST00000406091.3_Frame_Shift_Ins_p.C970fs|RIMS2_ENST00000262231.10_Frame_Shift_Ins_p.C809fs	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1032					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CATGGTCACCCAGTGTCCCTCC	0.416										HNSCC(12;0.0054)			12	51	---	---	---	---					
EBLN1	340900	broad.mit.edu	37	10	22498484	22498485	+	In_Frame_Ins	INS	-	-	AGA	rs145490621	by1000genomes	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:22498484_22498485insAGA	ENST00000422359.2	-	1	465_466	c.428_429insTCT	c.(427-429)cat>cTCTat	p.143_143H>LY		NM_001199938.1	NP_001186867.1			endogenous Bornavirus-like nucleoprotein 1																		CAATGCCTATCAGATCACAGCA	0.455													7	7	---	---	---	---					
TPH1	7166	broad.mit.edu	37	11	18050811	18050811	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:18050811delA	ENST00000250018.2	-	5	1130	c.568delT	c.(568-570)gcfs	p.C190fs	TPH1_ENST00000341556.2_Frame_Shift_Del_p.C190fs	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	190					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TACTCTCTGCAAGCATGGGTT	0.413													47	370	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900397	123900397	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:123900397delC	ENST00000431524.1	+	1	101	c.68delC	c.(67-69)gcfs	p.A23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCGCTGGACGCCCCCCTCTTT	0.592													49	155	---	---	---	---					
SYNE2	23224	broad.mit.edu	37	14	64516501	64516501	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:64516501delG	ENST00000358025.3	+	47	7780	c.7550delG	c.(7549-7551)acfs	p.S2517fs	SYNE2_ENST00000554584.1_Frame_Shift_Del_p.S2550fs|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Frame_Shift_Del_p.S2517fs	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2517					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACAAAGAAAGCCAATATTGT	0.393													7	67	---	---	---	---					
KIF2B	84643	broad.mit.edu	37	17	51902186	51902187	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:51902186_51902187insT	ENST00000268919.4	+	1	1948_1949	c.1792_1793insT	c.(1792-1794)tgafs	p.*598fs		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	598					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATTGAAGAGGTTGAAACATTA	0.421													48	103	---	---	---	---					
LOC101927755	101927755	broad.mit.edu	37	17	58050859	58050859	+	RNA	DEL	C	C	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:58050859delC	ENST00000586209.1	+	0	158																											TTTTTTTTGGCAGTTTTTACT	0.418													5	8	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			2	4	---	---	---	---					
KLHL4	56062	broad.mit.edu	37	X	86890577	86890578	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:86890577_86890578insT	ENST00000373119.4	+	9	1872_1873	c.1727_1728insT	c.(1726-1728)gggfs	p.G576fs	KLHL4_ENST00000373114.4_Frame_Shift_Ins_p.G576fs	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	576						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TATGCTATTGGTGGACGTGATG	0.391													13	18	---	---	---	---