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
TOX2	84969	broad.mit.edu	37	20	42695453	42695453	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr20:42695453G>T	ENST00000358131.5	+	7	1594	c.1386G>T	c.(1384-1386)tgG>tgT	p.W462C	TOX2_ENST00000423191.1_Missense_Mutation_p.W438C|TOX2_ENST00000341197.3_Missense_Mutation_p.W480C|TOX2_ENST00000435864.2_Missense_Mutation_p.W358C|TOX2_ENST00000372999.1_Missense_Mutation_p.W438C	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCGGGGACTGGGACAGCAGCT	0.637000													38	148					4.67007e-22	7.36433e-22	0.008740	1	0
ELTD1	64123	broad.mit.edu	37	1	79470764	79470764	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:79470764T>A	ENST00000370742.3	-	2	226	c.163A>T	c.(163-165)Att>Ttt	p.I55F		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	55	EGF-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CCTTCACAAATTGTGACACCA	0.373000													7	76					0	0	0.003080	0	0
LDHC	3948	broad.mit.edu	37	11	18451424	18451424	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:18451424C>A	ENST00000541669.1	+	4	496	c.385C>A	c.(385-387)Cct>Act	p.P129T	LDHC_ENST00000280704.4_Missense_Mutation_p.P129T|LDHC_ENST00000544105.1_Missense_Mutation_p.P129T|LDHC_ENST00000537486.1_Missense_Mutation_p.P129T|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000536880.1_Missense_Mutation_p.P115T|LDHC_ENST00000535809.1_Missense_Mutation_p.P129T			P07864	LDHC_HUMAN	lactate dehydrogenase C	129					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	CCATTATAGTCCTGATTGTAA	0.413000													12	67					4.36969e-10	6.03223e-10	0.016723	1	0
MS4A12	54860	broad.mit.edu	37	11	60269478	60269478	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:60269478C>T	ENST00000016913.4	+	4	494	c.437C>T	c.(436-438)tCt>tTt	p.S146F	MS4A12_ENST00000537076.1_Missense_Mutation_p.S100F	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	146						integral to membrane	receptor activity	p.S146C(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						GGCTCTCTCTCTGTGTCAGCA	0.388000													19	103					0	0	0.010504	0	0
COL24A1	255631	broad.mit.edu	37	1	86289270	86289270	+	Silent	SNP	G	G	T	rs143522499	by1000genomes	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:86289270G>T	ENST00000370571.2	-	45	4104	c.3738C>A	c.(3736-3738)ggC>ggA	p.G1246G	COL24A1_ENST00000436319.1_Silent_p.G1246G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1246	Collagen-like 13.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CACCTGGTTCGCCCTTTAGTA	0.318000													5	56					0.000602214	0.000670945	0.014758	1	0
NMNAT2	23057	broad.mit.edu	37	1	183387391	183387391	+	Silent	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:183387391G>C	ENST00000287713.6	-	1	346	c.12C>G	c.(10-12)acC>acG	p.T4T		NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	4					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						GGGTCTTGGTGGTCTCGGTCA	0.567000													48	93					0	0	0.014410	0	0
PSG7	5676	broad.mit.edu	37	19	43439857	43439857	+	RNA	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:43439857T>C	ENST00000406070.2	-	0	225				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				CGGAAACTTTTGGTGGCTGGG	0.493000													27	167					0	0	0.004656	0	0
BRCA1	672	broad.mit.edu	37	17	41245558	41245558	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:41245558T>C	ENST00000309486.4	-	9	2129	c.1102A>G	c.(1102-1104)Aga>Gga	p.R368G	BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.R664G|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.R664G|BRCA1_ENST00000354071.3_Missense_Mutation_p.R664G|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.R664G|BRCA1_ENST00000493795.1_Missense_Mutation_p.R617G|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000586385.1_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	664					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGTAGGTTTCTGCTGTGCCTG	0.393000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			16	96					0	0	0.004007	0	0
UXT	8409	broad.mit.edu	37	X	47516687	47516687	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:47516687G>A	ENST00000335890.2	-	4	440	c.287C>T	c.(286-288)cCa>cTa	p.P96L	UXT_ENST00000333119.3_Missense_Mutation_p.P84L|UXT_ENST00000460840.1_5'UTR	NM_153477.2	NP_705582.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	84					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						TGAAGTATCTGGGCTGAGGAA	0.478000													6	14					0	0	0.001984	0	0
FAM47C	442444	broad.mit.edu	37	X	37026701	37026701	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:37026701G>T	ENST00000358047.3	+	1	270	c.218G>T	c.(217-219)cGt>cTt	p.R73L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	73										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTTTGTCGCCGTGACGAGTTT	0.527000													23	80					1.22574e-08	1.63698e-08	0.014323	1	0
PLA2G2E	30814	broad.mit.edu	37	1	20246801	20246801	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:20246801C>T	ENST00000375116.3	-	4	485	c.428G>A	c.(427-429)tGa>tAa	p.*143*		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	0					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCATAGCCTCAGCAGGGCGG	0.647000													7	26					0	0	0.001984	0	0
ZNF257	113835	broad.mit.edu	37	19	22271482	22271482	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:22271482T>A	ENST00000594947.1	+	4	1074	c.930T>A	c.(928-930)caT>caA	p.H310Q		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGAGAATTCATACTGGAGAGA	0.408000													4	52					0	0	0.009096	0	0
PKD1L2	114780	broad.mit.edu	37	16	81236234	81236234	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr16:81236234G>A	ENST00000599697.1	-	6	1013	c.1014C>T	c.(1012-1014)acC>acT	p.T338T	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	338					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGTCTCGCACGGTCACCTGCC	0.582000													20	60					0	0	0.007413	0	0
GNL3L	54552	broad.mit.edu	37	X	54577458	54577458	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:54577458G>T	ENST00000336470.4	+	10	977	c.838G>T	c.(838-840)Gtg>Ttg	p.V280L	GNL3L_ENST00000360845.2_Missense_Mutation_p.V280L	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	280	G.				ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						CGCATGCAGCGTGGGAGCTGT	0.557000													7	44					5.18039e-06	6.22862e-06	0.003080	1	0
UNC13C	440279	broad.mit.edu	37	15	54847645	54847645	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:54847645G>T	ENST00000545554.1	+	28	5893	c.5893G>T	c.(5893-5895)Gag>Tag	p.E1965*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E1963*|UNC13C_ENST00000260323.11_Nonsense_Mutation_p.E1965*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1965	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CATGATTCGAGAGGATGCCAG	0.413000													6	45					8.12818e-05	9.36111e-05	0.001984	1	0
KCNA3	3738	broad.mit.edu	37	1	111217039	111217039	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:111217039G>T	ENST00000369769.2	-	1	616	c.393C>A	c.(391-393)ggC>ggA	p.G131G		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	131						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTTGGGGTCGCCCAGCAGCG	0.627000													13	117					7.03913e-09	9.46243e-09	0.013537	1	0
UTRN	7402	broad.mit.edu	37	6	145157526	145157526	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:145157526C>G	ENST00000367545.3	+	70	9914	c.9914C>G	c.(9913-9915)cCc>cGc	p.P3305R	UTRN_ENST00000367526.4_Missense_Mutation_p.P860R	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3305					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			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)		ATTATATCTCCCCATCACACG	0.502000													29	125					0	0	0.008361	0	0
CXorf61	203413	broad.mit.edu	37	X	115593060	115593060	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:115593060G>T	ENST00000371894.4	-	2	336	c.190C>A	c.(190-192)Cgg>Agg	p.R64R		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	64						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						AAAATATCCCGAGAGAGGTCG	0.408000													10	102					3.86212e-05	4.49849e-05	0.008291	1	0
TTN	7273	broad.mit.edu	37	2	179483207	179483207	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:179483207G>T	ENST00000589042.1	-	252	47202	c.46978C>A	c.(46978-46980)Cca>Aca	p.P15660T	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P6595T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P14019T|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P6720T|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P6787T|TTN_ENST00000342992.6_Missense_Mutation_p.P13092T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14019	Ig-like 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACGTACTGGCCCAGGAACA	0.403000													22	67					1.28384e-07	1.63979e-07	0.012319	1	0
PPP1R15A	23645	broad.mit.edu	37	19	49377451	49377451	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:49377451G>A	ENST00000200453.5	+	2	1230	c.961G>A	c.(961-963)Gag>Aag	p.E321K		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	321	Glu-rich.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GGGGGCAGCTGAGAAGGATGG	0.612000													14	60					0	0	0.020292	0	0
ASIC2	40	broad.mit.edu	37	17	31439077	31439077	+	Silent	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:31439077T>C	ENST00000225823.2	-	2	1589	c.717A>G	c.(715-717)acA>acG	p.T239T	ASIC2_ENST00000359872.6_Silent_p.T188T|RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	188					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TCCCATATTTTGTAAACACCT	0.527000													7	38					0	0	0.001984	0	0
MEGF8	1954	broad.mit.edu	37	19	42860263	42860263	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:42860263G>A	ENST00000334370.4	+	24	4855	c.4220G>A	c.(4219-4221)gGc>gAc	p.G1407D	MEGF8_ENST00000251268.6_Missense_Mutation_p.G1474D	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1474	EGF-like 4.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGTGCCGAGGGCTTCGGGGGC	0.672000													9	13					0	0	0.004482	0	0
DOK6	220164	broad.mit.edu	37	18	67266726	67266726	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr18:67266726G>T	ENST00000382713.5	+	3	471	c.281G>T	c.(280-282)tGt>tTt	p.C94F	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	94	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				ACATTTGCCTGTGAGTCAGGT	0.448000													5	19					5.9392e-07	7.37901e-07	0.001168	1	0
KCNH7	90134	broad.mit.edu	37	2	163695000	163695000	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:163695000G>T	ENST00000332142.5	-	1	128	c.29C>A	c.(28-30)cCa>cAa	p.P10Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.P10Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	10					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGTATTTTGTGGTGCCACATG	0.562000													14	56					2.48551e-13	3.66567e-13	0.004990	1	0
KRT83	3889	broad.mit.edu	37	12	52714970	52714970	+	Silent	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:52714970A>G	ENST00000293670.3	-	1	212	c.150T>C	c.(148-150)ttT>ttC	p.F50F		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	50	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTGGCTGCCAAAGCCCCCGG	0.736000													4	72					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179585700	179585700	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:179585700C>A	ENST00000589042.1	-	79	23270	c.23046G>T	c.(23044-23046)gaG>gaT	p.E7682D	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E7365D|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E6438D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7365	Ig-like 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTATGAGCCTCACAAATGT	0.428000													8	74					1.12685e-05	1.34305e-05	0.004482	1	0
SH2D1A	4068	broad.mit.edu	37	X	123480493	123480493	+	Translation_Start_Site	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:123480493A>G	ENST00000371139.4	+	1	300	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000360027.4_Start_Codon_SNP_p.M1V|SH2D1A_ENST00000470647.1_3'UTR	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	1					cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CCACCAGGCCATGGACGCAGT	0.592000													14	100					0	0	0.004007	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798378	148798378	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:148798378C>A	ENST00000355220.5	+	5	1334	c.1232C>A	c.(1231-1233)cCc>cAc	p.P411H	MAGEA11_ENST00000333104.4_Missense_Mutation_p.P382H	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	411	MAGE.					cytoplasm|nucleus	protein binding			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)					GGGAGGGATCCCACTTCTTAC	0.547000													24	168					5.45024e-15	8.12581e-15	0.018920	1	0
OR2L13	284521	broad.mit.edu	37	1	248262829	248262829	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:248262829A>G	ENST00000366478.2	+	3	489	c.152A>G	c.(151-153)gAt>gGt	p.D51G	OR2L13_ENST00000358120.2_Missense_Mutation_p.D51G	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			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)			ATCCACGTGGATCCTCGTCTC	0.502000													6	151					0	0	0.001984	0	0
DCHS2	54798	broad.mit.edu	37	4	155249332	155249332	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:155249332G>A	ENST00000357232.3	-	12	2565	c.2566C>T	c.(2566-2568)Caa>Taa	p.Q856*	DCHS2_ENST00000339452.1_Nonsense_Mutation_p.Q1311*	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	856	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTTACTGGTTGACCTTCCAGA	0.333000													20	37					0	0	0.010504	0	0
FITM2	128486	broad.mit.edu	37	20	42935681	42935681	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr20:42935681G>A	ENST00000396825.3	-	2	393	c.373C>T	c.(373-375)Cca>Tca	p.P125S		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	125					cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				endometrium(2)|lung(2)|skin(2)	6						TCCAGGGCTGGGGACTGGTAG	0.597000													9	56					0	0	0.006214	0	0
FAM83H	286077	broad.mit.edu	37	8	144812599	144812599	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:144812599C>T	ENST00000388913.3	-	2	279	c.154G>A	c.(154-156)Gca>Aca	p.A52T		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	52					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAGTCTGGTGCCCCCTCGGTA	0.627000													26	64					0	0	0.005443	0	0
LHX1	3975	broad.mit.edu	37	17	35298160	35298160	+	Silent	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:35298160C>A	ENST00000254457.5	+	3	2062	c.651C>A	c.(649-651)acC>acA	p.T217T	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	217					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CGCAGGAGACCGGCCTCAACA	0.672000													4	13					0.00909568	0.009788	0.009096	1	0
PLCH1	23007	broad.mit.edu	37	3	155200696	155200696	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:155200696T>G	ENST00000460012.1	-	23	3386	c.3029A>C	c.(3028-3030)cAc>cCc	p.H1010P	PLCH1_ENST00000334686.6_Missense_Mutation_p.H1010P|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.H1048P|PLCH1_ENST00000414191.1_Missense_Mutation_p.H1010P|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1048					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GACTGACATGTGGGCAGTAGA	0.488000													24	90					0	0	0.021523	0	0
TLL1	7092	broad.mit.edu	37	4	166916211	166916211	+	Splice_Site	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:166916211A>G	ENST00000061240.2	+	5	1161		c.e5-1		TLL1_ENST00000513213.1_Splice_Site|TLL1_ENST00000507499.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CATTTTTTCTAGGCAGCCAGA	0.458000													26	63					0	0	0.018920	0	0
VIT	5212	broad.mit.edu	37	2	36982161	36982161	+	Translation_Start_Site	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:36982161T>G	ENST00000497382.1	+	0	560				VIT_ENST00000404084.1_Missense_Mutation_p.S103A|VIT_ENST00000389975.3_Missense_Mutation_p.S125A|VIT_ENST00000401530.1_Missense_Mutation_p.S125A|VIT_ENST00000457137.2_Missense_Mutation_p.S125A|VIT_ENST00000379241.3_Missense_Mutation_p.S125A|VIT_ENST00000379242.3_Missense_Mutation_p.S125A			Q6UXI7	VITRN_HUMAN	vitrin							proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCAATCGTTATCCCTACCACG	0.438000													5	32					0	0	0.001168	0	0
CXorf22	170063	broad.mit.edu	37	X	35990013	35990013	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:35990013T>C	ENST00000297866.5	+	13	2251	c.2185T>C	c.(2185-2187)Tcc>Ccc	p.S729P		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	729										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATCAGAACCATCCACTCCACA	0.323000													3	12					0	0	0.004672	0	0
PCNT	5116	broad.mit.edu	37	21	47773909	47773909	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr21:47773909G>A	ENST00000359568.5	+	11	1795	c.1688G>A	c.(1687-1689)tGt>tAt	p.C563Y	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	563	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGGTTGTCCTGTGTGGGTTTA	0.493000													10	22					0	0	0.006214	0	0
SUCLG2	8801	broad.mit.edu	37	3	67571002	67571002	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:67571002C>A	ENST00000307227.5	-	5	501	c.474G>T	c.(472-474)atG>atT	p.M158I	SUCLG2_ENST00000493112.1_Missense_Mutation_p.M158I|SUCLG2_ENST00000492795.1_Missense_Mutation_p.M158I	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	158	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	AGGACCGGTCCATCAGAATTG	0.512000													15	80					1.01871e-10	1.4353e-10	0.008871	1	0
PTPRM	5797	broad.mit.edu	37	18	7949203	7949203	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr18:7949203C>T	ENST00000332175.8	+	6	1725	c.688C>T	c.(688-690)Ctg>Ttg	p.L230L	PTPRM_ENST00000444013.1_Silent_p.L17L|PTPRM_ENST00000400053.4_Silent_p.L168L|PTPRM_ENST00000400060.4_Silent_p.L230L|PTPRM_ENST00000580170.1_Silent_p.L230L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	230	Ig-like C2-type.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGATGCTCCTCTGAAGGAAAT	0.473000													13	78					0	0	0.003163	0	0
ENPP1	5167	broad.mit.edu	37	6	132206176	132206176	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:132206176G>C	ENST00000360971.2	+	23	2437	c.2417G>C	c.(2416-2418)cGt>cCt	p.R806P		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	806	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TATGATGGACGTTGTGATTCC	0.398000													8	38					0	0	0.003080	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130319057	130319057	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:130319057C>T	ENST00000299164.2	+	1	189	c.189C>T	c.(187-189)gaC>gaT	p.D63D		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	63					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TTCAGGAGGACTTTTACCTAC	0.612000													11	90					0	0	0.008291	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043258	71043258	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:71043258C>A	ENST00000272367.2	-	4	1331	c.1255G>T	c.(1255-1257)Gcc>Tcc	p.A419S	CLEC4F_ENST00000426626.1_Missense_Mutation_p.A419S	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	419					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TGGATCTCGGCACTGGCCTTC	0.498000													9	34					7.48243e-07	9.24035e-07	0.006214	1	0
SNRPN	6638	broad.mit.edu	37	15	25222051	25222051	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:25222051G>T	ENST00000444203.2	+	5	1346	c.307G>T	c.(307-309)Gga>Tga	p.G103*	SNRPN_ENST00000400100.1_Nonsense_Mutation_p.G99*|SNRPN_ENST00000390687.4_Nonsense_Mutation_p.G99*|SNRPN_ENST00000554227.2_Nonsense_Mutation_p.G103*|SNRPN_ENST00000577565.1_Nonsense_Mutation_p.G99*|SNRPN_ENST00000400097.1_Nonsense_Mutation_p.G99*|SNRPN_ENST00000400098.1_Nonsense_Mutation_p.G99*|SNRPN_ENST00000346403.6_Nonsense_Mutation_p.G99*|SNURF_ENST00000338094.6_3'UTR			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	99					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	p.G99*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		ACCACTTGCTGGAGCTGCTGG	0.512000									Prader-Willi syndrome				13	75					6.31663e-08	8.16977e-08	0.003163	1	0
CDH19	28513	broad.mit.edu	37	18	64202257	64202257	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr18:64202257A>T	ENST00000262150.2	-	8	1594	c.1302T>A	c.(1300-1302)gcT>gcA	p.A434A	CDH19_ENST00000540086.1_Silent_p.A434A	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	434	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GGTTGTACCAAGCACTGATTT	0.323000													6	28					0	0	0.001168	0	0
USP9X	8239	broad.mit.edu	37	X	41031206	41031206	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:41031206C>G	ENST00000324545.7	+	21	3776	c.3143C>G	c.(3142-3144)cCg>cGg	p.P1048R	USP9X_ENST00000378308.2_Missense_Mutation_p.P1048R	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1048					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAACTTATGCCGCCAGGTAAG	0.388000													8	68					0	0	0.004482	0	0
CACNA1F	778	broad.mit.edu	37	X	49065125	49065125	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:49065125G>T	ENST00000376265.2	-	43	5067	c.5006C>A	c.(5005-5007)cCc>cAc	p.P1669H	CACNA1F_ENST00000323022.5_Missense_Mutation_p.P1658H|CACNA1F_ENST00000376251.1_Missense_Mutation_p.P1604H	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1669					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GCGAGCTGAGGGCTGGGAGAC	0.562000													12	65					4.36969e-10	6.03223e-10	0.016723	1	0
OR2T33	391195	broad.mit.edu	37	1	248436759	248436759	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:248436759G>T	ENST00000318021.2	-	1	379	c.358C>A	c.(358-360)Cgc>Agc	p.R120S		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCGCATAGCGGTCATAGGCC	0.592000													21	95					2.85442e-18	4.41627e-18	0.010818	1	0
LAMA2	3908	broad.mit.edu	37	6	129762020	129762020	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:129762020A>G	ENST00000421865.2	+	43	6194	c.6145A>G	c.(6145-6147)Aaa>Gaa	p.K2049E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2049	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CGACACAGCTAAAGATGTACT	0.453000													7	47					0	0	0.001984	0	0
XDH	7498	broad.mit.edu	37	2	31598336	31598336	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:31598336C>A	ENST00000379416.3	-	15	1560	c.1512G>T	c.(1510-1512)atG>atT	p.M504I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	504					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			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)	GGAAGTCCACCATGCCACCAG	0.607000													20	72					1.56452e-12	2.27466e-12	0.007413	1	0
HCFC1	3054	broad.mit.edu	37	X	153218076	153218076	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:153218076C>A	ENST00000310441.7	-	19	5797	c.4831G>T	c.(4831-4833)Gag>Tag	p.E1611*	HCFC1_ENST00000369984.4_Nonsense_Mutation_p.E1655*|HCFC1_ENST00000354233.3_Nonsense_Mutation_p.E1542*	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1611					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTGCCAGCTCCTCGGGGGTG	0.662000													11	49					1.58986e-06	1.92853e-06	0.008291	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140712526	140712526	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:140712526C>A	ENST00000517417.1	+	1	2275	c.2275C>A	c.(2275-2277)Ctc>Atc	p.L759I	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.L759I	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGGTCTCCCTCACTGCGGA	0.592000													38	137					1.32136e-16	2.03668e-16	0.008740	1	0
FHL1	2273	broad.mit.edu	37	X	135288651	135288651	+	Silent	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:135288651G>C	ENST00000543669.1	+	2	771	c.60G>C	c.(58-60)gtG>gtC	p.V20V	FHL1_ENST00000394155.2_Silent_p.V20V|FHL1_ENST00000345434.3_Silent_p.V20V|FHL1_ENST00000535737.1_Silent_p.V20V|FHL1_ENST00000370676.3_Silent_p.V36V|FHL1_ENST00000370683.1_Silent_p.V36V|FHL1_ENST00000394153.2_Silent_p.V20V|FHL1_ENST00000539015.1_Silent_p.V49V|FHL1_ENST00000370690.3_Silent_p.V20V|FHL1_ENST00000477080.1_3'UTR	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	20					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					AGAAGTATGTGCAAAAGGATG	0.567000													38	215					0	0	0.005524	0	0
ANK2	287	broad.mit.edu	37	4	114163318	114163318	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:114163318G>C	ENST00000357077.4	+	9	897	c.844G>C	c.(844-846)Gtg>Ctg	p.V282L	ANK2_ENST00000394537.3_Missense_Mutation_p.V282L|ANK2_ENST00000506722.1_Missense_Mutation_p.V261L|ANK2_ENST00000264366.6_Missense_Mutation_p.V282L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	282					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			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)		TACAAACATGGTGAAGCTCTT	0.438000													13	32					0	0	0.003163	0	0
DHX34	9704	broad.mit.edu	37	19	47863303	47863303	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:47863303G>T	ENST00000328771.4	+	5	1700	c.1351G>T	c.(1351-1353)Ggg>Tgg	p.G451W	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	451	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CACCATTGACGGGATCCGCTT	0.592000													33	100					2.08457e-15	3.14218e-15	0.010818	1	0
ZFP69B	65243	broad.mit.edu	37	1	40928732	40928732	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:40928732G>A	ENST00000411995.2	+	6	1451	c.1076G>A	c.(1075-1077)gGg>gAg	p.G359E	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.G257E	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		ATTCATACCGGGGAAAAGCCC	0.423000													6	43					0	0	0.001984	0	0
OR4M2	390538	broad.mit.edu	37	15	22369359	22369359	+	Missense_Mutation	SNP	C	C	G	rs145231732		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:22369359C>G	ENST00000332663.2	+	1	882	c.784C>G	c.(784-786)Cgc>Ggc	p.R262G	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CATTTATGCTCGCCCATTTGA	0.418000													6	141					0	0	0.001984	0	0
ZNF99	7652	broad.mit.edu	37	19	22952031	22952031	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:22952031C>G	ENST00000397104.3	-	2	161	c.162G>C	c.(160-162)atG>atC	p.M54I	ZNF99_ENST00000596209.1_Missense_Mutation_p.M33I					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGTTCTCTAACATAACATTCC	0.393000													7	78					0	0	0.003080	0	0
GPR112	139378	broad.mit.edu	37	X	135482271	135482271	+	Silent	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:135482271T>A	ENST00000394143.1	+	21	8862	c.8571T>A	c.(8569-8571)ggT>ggA	p.G2857G	GPR112_ENST00000370652.1_Silent_p.G2857G|GPR112_ENST00000287534.4_Silent_p.G2610G|GPR112_ENST00000412101.1_Silent_p.G2652G|GPR112_ENST00000394141.1_Silent_p.G2652G	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2857					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTCTAGTTGGTTGGGGTAAGT	0.333000													8	60					0	0	0.004482	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457455	110457455	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:110457455A>T	ENST00000378402.5	+	38	5461	c.5357A>T	c.(5356-5358)cAa>cTa	p.Q1786L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1786	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTGGAAATCAACAGTTCAGA	0.413000										HNSCC(38;0.096)			26	58					0	0	0.004656	0	0
PAX4	5078	broad.mit.edu	37	7	127253104	127253104	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:127253104C>T	ENST00000341640.2	-	6	868	c.663G>A	c.(661-663)gaG>gaA	p.E221E	PAX4_ENST00000463946.1_Silent_p.E219E|PAX4_ENST00000338516.3_Silent_p.E229E|PAX4_ENST00000378740.2_Silent_p.E221E	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	229					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACTTGAGCTTCTCTTGCCGAC	0.527000													13	68					0	0	0.020292	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720341	140720341	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:140720341C>T	ENST00000394576.2	+	1	1803	c.1803C>T	c.(1801-1803)aaC>aaT	p.N601N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCCAGAACGCCTGGCTGT	0.692000													26	113					0	0	0.004656	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962135	73962135	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:73962135G>T	ENST00000373468.1	-	3	2908	c.2257C>A	c.(2257-2259)Caa>Aaa	p.Q753K	KIAA2022_ENST00000055682.5_Missense_Mutation_p.Q753K			Q5QGS0	K2022_HUMAN	KIAA2022	753					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTGAGGATTGGTTTTCCAAG	0.388000													14	80					4.3838e-07	5.47975e-07	0.016723	1	0
TP53	7157	broad.mit.edu	37	17	7577556	7577556	+	Missense_Mutation	SNP	C	C	A	rs121912655		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:7577556C>A	ENST00000420246.2	-	7	857	c.725G>T	c.(724-726)tGc>tTc	p.C242F	TP53_ENST00000413465.2_Missense_Mutation_p.C242F|TP53_ENST00000455263.2_Missense_Mutation_p.C242F|TP53_ENST00000445888.2_Missense_Mutation_p.C242F|TP53_ENST00000359597.4_Missense_Mutation_p.C242F|TP53_ENST00000269305.4_Missense_Mutation_p.C242F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)		GCCGCCCATGCAGGAACTGTT	0.577000		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)			28	44					3.00307e-07	3.78848e-07	0.008361	1	0
HDAC6	10013	broad.mit.edu	37	X	48681334	48681334	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:48681334G>T	ENST00000334136.5	+	25	2703	c.2525G>T	c.(2524-2526)aGa>aTa	p.R842I	HDAC6_ENST00000444343.2_Missense_Mutation_p.R856I|HDAC6_ENST00000376619.2_Missense_Mutation_p.R842I			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	842					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule 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)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GTAGAAGACAGAGAAGGACCC	0.562000													5	48					1.23904e-05	1.464e-05	0.014758	1	0
ONECUT1	3175	broad.mit.edu	37	15	53050034	53050034	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:53050034C>T	ENST00000560699.2	-	2	598	c.38G>A	c.(37-39)gGa>gAa	p.G13E	ONECUT1_ENST00000561401.2_5'UTR|ONECUT1_ENST00000305901.5_Silent_p.R372R			Q9UBC0	HNF6_HUMAN	one cut homeobox 1	0					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CTTGTTCTTTCCTTTTGCATG	0.423000													17	95					0	0	0.004007	0	0
MAGIX	79917	broad.mit.edu	37	X	49021378	49021378	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:49021378G>T	ENST00000376338.3	+	2	359	c.280G>T	c.(280-282)Gtg>Ttg	p.V94L	MAGIX_ENST00000412696.2_Missense_Mutation_p.V153L|MAGIX_ENST00000425661.2_Intron|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000376339.1_Missense_Mutation_p.V94L			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	153																	TCCGCTGGCCGTGCGCGGGCT	0.632000													27	96					6.32553e-13	9.22942e-13	0.004656	1	0
ZSWIM2	151112	broad.mit.edu	37	2	187703819	187703819	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:187703819G>T	ENST00000295131.2	-	4	400	c.361C>A	c.(361-363)Cca>Aca	p.P121T		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	121					apoptosis		zinc ion binding			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)			TTTGTTCCTGGTTGGGGAGTT	0.403000													44	201					4.67007e-22	7.36433e-22	0.008740	1	0
HRNR	388697	broad.mit.edu	37	1	152191468	152191468	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:152191468G>T	ENST00000368801.2	-	3	2712	c.2637C>A	c.(2635-2637)ggC>ggA	p.G879G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	879					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCGGCCGCGGCCCGAAGCGT	0.622000													48	90					3.77016e-25	6.03814e-25	0.013114	1	0
ACAN	176	broad.mit.edu	37	15	89417692	89417692	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:89417692C>A	ENST00000439576.2	+	18	7947	c.7573C>A	c.(7573-7575)Cgc>Agc	p.R2525S	ACAN_ENST00000561243.1_Missense_Mutation_p.R2525S|ACAN_ENST00000352105.7_Missense_Mutation_p.R2426S|ACAN_ENST00000559004.1_Missense_Mutation_p.R2487S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2525					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCGGAGGAGCCGCCCCAGCAC	0.617000													4	13					0.00909568	0.009788	0.009096	1	0
KHDRBS2	202559	broad.mit.edu	37	6	62604606	62604606	+	Silent	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:62604606C>A	ENST00000281156.4	-	6	1022	c.744G>T	c.(742-744)cgG>cgT	p.R248R		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	248	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTGGTGCCCCCCGGGCTCGAG	0.552000													17	47					1.99824e-07	2.52863e-07	0.004990	1	0
SLC43A3	29015	broad.mit.edu	37	11	57175325	57175325	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:57175325G>A	ENST00000395123.2	-	14	1720	c.1416C>T	c.(1414-1416)caC>caT	p.H472H	RP11-872D17.8_ENST00000529411.1_Intron|SLC43A3_ENST00000533524.1_Silent_p.H485H|SLC43A3_ENST00000529554.1_Silent_p.H472H|SLC43A3_ENST00000395124.1_Silent_p.H472H|SLC43A3_ENST00000352187.1_Silent_p.H472H	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	472					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CCAGAAAGGGGTGGAAGAATG	0.463000													18	44					0	0	0.008871	0	0
SLC6A13	6540	broad.mit.edu	37	12	333259	333259	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:333259C>T	ENST00000343164.4	-	11	1262	c.1210G>A	c.(1210-1212)Gac>Aac	p.D404N	SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Missense_Mutation_p.D312N	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	404					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GGGTACATGTCCACCAGCGCT	0.557000													6	40					0	0	0.001984	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325656	79325656	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:79325656A>G	ENST00000428286.1	-	8	1657	c.457T>C	c.(457-459)Tct>Cct	p.S153P	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S512P			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	512					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TAGTCTGCAGAATGAGAAGAT	0.547000													20	26					0	0	0.008871	0	0
IGSF10	285313	broad.mit.edu	37	3	151163676	151163676	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:151163676T>A	ENST00000282466.3	-	4	4092	c.4093A>T	c.(4093-4095)Agt>Tgt	p.S1365C		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1365					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGCCAGAACTCTGGTCTGGA	0.473000													51	303					0	0	0.014410	0	0
NAA25	80018	broad.mit.edu	37	12	112528566	112528566	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:112528566G>C	ENST00000261745.4	-	3	495	c.247C>G	c.(247-249)Cag>Gag	p.Q83E		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	83						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GTCAGTGCCTGCAGTGAGTTG	0.423000													25	83					0	0	0.018920	0	0
RTL1	388015	broad.mit.edu	37	14	101349302	101349302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:101349302G>T	ENST00000534062.1	-	1	1882	c.1824C>A	c.(1822-1824)taC>taA	p.Y608*		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	608										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						AGGGACACTCGTAAAAGGTCT	0.567000													8	35					3.09899e-07	3.88558e-07	0.004482	1	0
DNM1	1759	broad.mit.edu	37	9	131001792	131001792	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:131001792C>T	ENST00000341179.7	+	12	1583	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A	DNM1_ENST00000372923.3_Silent_p.A497A|DNM1_ENST00000475805.1_Silent_p.A497A|DNM1_ENST00000486160.1_Silent_p.A497A|DNM1_ENST00000393594.3_Silent_p.A497A	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	497					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TAGGCTTTGCCAAGTGAGTGC	0.512000													144	202					0	0	0.014410	0	0
PMPCB	9512	broad.mit.edu	37	7	102952105	102952105	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:102952105A>T	ENST00000249269.4	+	10	1208	c.1170A>T	c.(1168-1170)acA>acT	p.T390T	PMPCB_ENST00000420236.2_Silent_p.T285T|PMPCB_ENST00000428154.1_Silent_p.T390T	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	390					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GACTCTGTACAAGTGTCACAG	0.363000													5	33					0	0	0.014758	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659621	24659621	+	RNA	SNP	T	T	C	rs116751564	by1000genomes	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr22:24659621T>C	ENST00000414583.2	+	0	3146					NR_003714.1																						CCTGGATGTCTGCGGCCACAC	0.637000													4	13					0	0	0.009096	0	0
CYP26A1	1592	broad.mit.edu	37	10	94834702	94834702	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:94834702T>A	ENST00000371531.1	+	3	752	c.374T>A	c.(373-375)cTg>cAg	p.L125Q	CYP26A1_ENST00000394139.1_Missense_Mutation_p.L125Q|CYP26A1_ENST00000224356.4_Missense_Mutation_p.L194Q	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	194					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				CGCATCCTACTGGGCTGCGAA	0.657000													11	87					0	0	0.013537	0	0
SPTA1	6708	broad.mit.edu	37	1	158583633	158583633	+	Silent	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:158583633C>G	ENST00000368148.3	-	50	7047	c.6867G>C	c.(6865-6867)ggG>ggC	p.G2289G	SPTA1_ENST00000368147.3_Silent_p.G2286G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2289	EF-hand 1.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAGTCAGGCGCCCTGTCAAAT	0.408000													14	29					0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179431634	179431634	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:179431634G>T	ENST00000589042.1	-	326	79449	c.79225C>A	c.(79225-79227)Cgt>Agt	p.R26409S	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R17344S|TTN-AS1_ENST00000592750.1_RNA|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.R24768S|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17469S|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17536S|TTN_ENST00000342992.6_Missense_Mutation_p.R23841S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24768	Ig-like 127.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATCTGGACGGTTCCAACAG	0.413000													27	78					3.73808e-20	5.87208e-20	0.005443	1	0
MAGEA5	4104	broad.mit.edu	37	X	151283934	151283934	+	RNA	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:151283934C>A	ENST00000509345.2	-	0	402																											GCCTGCACACCCACCAGGCCC	0.627000													20	112					3.51602e-12	5.00544e-12	0.008871	1	0
LY96	23643	broad.mit.edu	37	8	74922334	74922334	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:74922334G>C	ENST00000284818.2	+	3	392	c.301G>C	c.(301-303)Gat>Cat	p.D101H	LY96_ENST00000518893.1_Missense_Mutation_p.D71H	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	101					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			ATCTGATGACGATTACTCTTT	0.313000													8	46					0	0	0.004482	0	0
GPRASP2	114928	broad.mit.edu	37	X	101970137	101970137	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:101970137G>C	ENST00000543253.1	+	5	1259	c.340G>C	c.(340-342)Gcc>Ccc	p.A114P	GPRASP2_ENST00000332262.5_Missense_Mutation_p.A114P|GPRASP2_ENST00000535209.1_Missense_Mutation_p.A114P	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TAAAACTGATGCCAAGGCAAT	0.577000													38	188					0	0	0.021022	0	0
ABCC9	10060	broad.mit.edu	37	12	21991070	21991070	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:21991070G>A	ENST00000261200.4	-	28	3507	c.3508C>T	c.(3508-3510)Cct>Tct	p.P1170S	ABCC9_ENST00000345162.2_Missense_Mutation_p.P1134S|ABCC9_ENST00000261201.4_Missense_Mutation_p.P1170S|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1170	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGAGCAGAGGGAGCTGGGTA	0.443000													23	70					0	0	0.016522	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105446604	105446604	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:105446604G>T	ENST00000258494.9	-	11	1533	c.1393C>A	c.(1393-1395)Cca>Aca	p.P465T	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P465T	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	465	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			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CCATCTGTTGGGTTGATAGTG	0.383000											OREG0022073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	39					1.76689e-08	2.32935e-08	0.006214	1	0
DCAF8L2	347442	broad.mit.edu	37	X	27765882	27765882	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:27765882G>T	ENST00000451261.2	+	5	1269	c.870G>T	c.(868-870)atG>atT	p.M290I		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CTCTGGCCATGTGTGCCCGTG	0.502000													8	23					0.00307968	0.00336712	0.003080	1	0
EPAS1	2034	broad.mit.edu	37	2	46574098	46574098	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:46574098C>T	ENST00000263734.3	+	2	623	c.113C>T	c.(112-114)gCc>gTc	p.A38V	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	38	Helix-loop-helix motif.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TATGAGCTGGCCCATGAGCTG	0.602000													14	107					0	0	0.020292	0	0
GRIN2C	2905	broad.mit.edu	37	17	72846860	72846860	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:72846860C>G	ENST00000293190.5	-	5	1306	c.1160G>C	c.(1159-1161)tGg>tCg	p.W387S	GRIN2C_ENST00000347612.4_Missense_Mutation_p.W387S	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	387					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GTAGCGAGGCCACACGGGGTA	0.657000													8	19					0	0	0.004482	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262292	140262292	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:140262292C>A	ENST00000289272.2	+	1	439	c.439C>A	c.(439-441)Cct>Act	p.P147T	PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P147T|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAATCTAGACCTCCGGAAAC	0.463000													25	74					2.21704e-12	3.17827e-12	0.016522	1	0
PRKD1	5587	broad.mit.edu	37	14	30135391	30135391	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:30135391G>C	ENST00000331968.5	-	3	656	c.427C>G	c.(427-429)Cag>Gag	p.Q143E	PRKD1_ENST00000415220.2_Missense_Mutation_p.Q143E	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	143					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGACGAATCTGAAAGTCTTCA	0.408000													12	43					0	0	0.016723	0	0
AC005863.1	0	broad.mit.edu	37	17	14683358	14683358	+	RNA	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:14683358C>T	ENST00000379640.1	-	0	162																											GGCTATGCAGCGGAAACACAC	0.557000													10	69					0	0	0.008291	0	0
OR6K2	81448	broad.mit.edu	37	1	158669539	158669539	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:158669539T>A	ENST00000359610.2	-	1	947	c.904A>T	c.(904-906)Ata>Tta	p.I302L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGCTTTTTTATAGCTTCTTTT	0.378000													13	25					0	0	0.013537	0	0
CCPG1	9236	broad.mit.edu	37	15	55657499	55657499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:55657499G>A	ENST00000310958.6	-	7	1013	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	CCPG1_ENST00000442196.3_Nonsense_Mutation_p.Q239*|CCPG1_ENST00000425574.3_Nonsense_Mutation_p.Q239*|CCPG1_ENST00000569205.1_Nonsense_Mutation_p.Q239*|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	239	Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTCTGAATCTGAATTGTGCCt	0.269000													15	70					0	0	0.020292	0	0
XRN2	22803	broad.mit.edu	37	20	21346226	21346226	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr20:21346226A>T	ENST00000377191.3	+	26	2435	c.2340A>T	c.(2338-2340)gtA>gtT	p.V780V	XRN2_ENST00000430571.2_Silent_p.V704V|XRN2_ENST00000539513.1_Silent_p.V726V	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	780					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CAGCAGCAGTACTGAAACCTA	0.443000													19	68					0	0	0.008871	0	0
LIMA1	51474	broad.mit.edu	37	12	50594639	50594639	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:50594639A>G	ENST00000341247.4	-	7	1042	c.893T>C	c.(892-894)aTc>aCc	p.I298T	LIMA1_ENST00000547825.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.I298T|LIMA1_ENST00000552823.1_Missense_Mutation_p.I138T|LIMA1_ENST00000552909.1_Missense_Mutation_p.I138T|LIMA1_ENST00000552783.1_Missense_Mutation_p.I138T|LIMA1_ENST00000552008.1_5'UTR	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	298					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						ATGAATTTTGATTTCGCCACC	0.388000													56	243					0	0	0.014410	0	0
LHX3	8022	broad.mit.edu	37	9	139090618	139090618	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:139090618C>A	ENST00000371746.3	-	5	788	c.670G>T	c.(670-672)Gcc>Tcc	p.A224S	LHX3_ENST00000371748.5_Missense_Mutation_p.A219S	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	219					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		TGCCGGCCGGCGTCCTTCTTC	0.706000													17	79					9.16793e-09	1.22838e-08	0.004990	1	0
ZEB2	9839	broad.mit.edu	37	2	145156365	145156365	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:145156365G>T	ENST00000558170.2	-	8	3573	c.2389C>A	c.(2389-2391)Cac>Aac	p.H797N	ZEB2_ENST00000303660.4_Missense_Mutation_p.H797N|ZEB2_ENST00000409487.3_Missense_Mutation_p.H797N|ZEB2_ENST00000539609.3_Missense_Mutation_p.H773N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	797						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			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)		GAACTACTGTGGGAGTTTTTA	0.393000													20	140					8.34094e-07	1.02389e-06	0.008871	1	0
SNHG14	104472715	broad.mit.edu	37	15	25231989	25231989	+	RNA	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:25231989G>T	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						GAGATGACACgtgtatgtgcg	0.473000													8	28					0.00307968	0.00336712	0.003080	1	0
RGL3	57139	broad.mit.edu	37	19	11527319	11527319	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:11527319C>T	ENST00000380456.3	-	4	457	c.394G>A	c.(394-396)Gta>Ata	p.V132I	RGL3_ENST00000393423.3_Missense_Mutation_p.V132I	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	132	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		p.V132L(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						AGATCTTGTACCGCTGTCTTC	0.567000													23	94					0	0	0.014323	0	0
OR52M1	119772	broad.mit.edu	37	11	4567362	4567362	+	Missense_Mutation	SNP	G	G	A	rs77669724		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:4567362G>A	ENST00000360213.1	+	1	942	c.942G>A	c.(940-942)atG>atA	p.M314I		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M314I(1)		endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATAGAAATGAAGATTAGAT	0.403000													7	22					0	0	0.003080	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507545	74507545	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:74507545G>T	ENST00000354431.4	-	7	1261	c.1070C>A	c.(1069-1071)cCc>cAc	p.P357H	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P357H	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	357								p.P357L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AGTGTATATGGGTAGTTTGAA	0.338000													4	39					2.56e-06	3.08706e-06	0.009096	1	0
ZBTB33	10009	broad.mit.edu	37	X	119389152	119389152	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:119389152G>C	ENST00000326624.2	+	2	2110	c.1882G>C	c.(1882-1884)Ggg>Cgg	p.G628R	ZBTB33_ENST00000557385.1_Missense_Mutation_p.G628R	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	628	Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACCTCCAGTAGGGACCACTAC	0.383000													13	88					0	0	0.013537	0	0
GAB3	139716	broad.mit.edu	37	X	153944560	153944560	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:153944560G>T	ENST00000369575.3	-	2	148	c.117C>A	c.(115-117)agC>agA	p.S39R	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.S39R	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	39	PH.									NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGGGTTGCCGCTCATGCGGC	0.562000													10	56					0.000442599	0.000497166	0.006214	1	0
LIFR	3977	broad.mit.edu	37	5	38486030	38486030	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:38486030C>T	ENST00000263409.4	-	17	2550	c.2388G>A	c.(2386-2388)ctG>ctA	p.L796L	LIFR_ENST00000453190.2_Silent_p.L796L	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	796	Fibronectin type-III 6.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CAGCAATTCTCAGTGTCTTCT	0.398000			T	PLAG1	salivary adenoma								9	44					0	0	0.004482	0	0
GIGYF1	64599	broad.mit.edu	37	7	100281723	100281723	+	Silent	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:100281723C>G	ENST00000275732.5	-	15	2997	c.1788G>C	c.(1786-1788)ccG>ccC	p.P596P		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	596	Gln-rich.|Poly-Pro.							p.P315P(1)|p.P596P(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCGGTGGTGGCGGTGTCAGGT	0.687000													11	41					0	0	0.013537	0	0
MORC4	79710	broad.mit.edu	37	X	106200165	106200165	+	Splice_Site	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:106200165C>G	ENST00000355610.4	-	12	1729		c.e12+1		MORC4_ENST00000535534.1_Splice_Site|MORC4_ENST00000255495.7_Splice_Site	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4								ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GTATACTCAACTGTTTCTTAG	0.428000													7	112					0	0	0.004482	0	0
MYO16	23026	broad.mit.edu	37	13	109707435	109707435	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:109707435G>A	ENST00000356711.2	+	26	3150	c.3024G>A	c.(3022-3024)ttG>ttA	p.L1008L	MYO16_ENST00000457511.2_Silent_p.L520L|MYO16_ENST00000357550.2_Silent_p.L1008L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1008	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTCAAAGATTGGAACGAGGAG	0.343000													8	30					0	0	0.004482	0	0
OTOF	9381	broad.mit.edu	37	2	26687858	26687858	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:26687858G>A	ENST00000272371.2	-	39	4965	c.4839C>T	c.(4837-4839)agC>agT	p.S1613S	OTOF_ENST00000338581.6_Silent_p.S846S|OTOF_ENST00000403946.3_Silent_p.S1613S|OTOF_ENST00000402415.3_Silent_p.S923S|OTOF_ENST00000339598.3_Silent_p.S846S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1613					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGGATCTGGCTGGGCTTCA	0.627000													8	45					0	0	0.004482	0	0
TECTB	6975	broad.mit.edu	37	10	114045943	114045943	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:114045943T>A	ENST00000369422.3	+	3	382	c.382T>A	c.(382-384)Ttg>Atg	p.L128M		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	128	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		CTCCACCTACTTGGTGAACCA	0.502000													19	73					0	0	0.007413	0	0
SYNJ1	8867	broad.mit.edu	37	21	34029187	34029187	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr21:34029187C>T	ENST00000382499.2	-	21	2721	c.2722G>A	c.(2722-2724)Gat>Aat	p.D908N	SYNJ1_ENST00000382491.3_Missense_Mutation_p.D864N|SYNJ1_ENST00000433931.2_Missense_Mutation_p.D908N|SYNJ1_ENST00000322229.7_Missense_Mutation_p.D869N|SYNJ1_ENST00000464778.1_5'UTR|SYNJ1_ENST00000357345.3_Missense_Mutation_p.D869N	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	869	Pro-rich.|RRM.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TCAAATATATCTATATCAATC	0.343000													6	34					0	0	0.001984	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129070697	129070697	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:129070697G>T	ENST00000274487.4	+	22	3512	c.3367G>T	c.(3367-3369)Gga>Tga	p.G1123*	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1123	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGGAAGACATGGAAATGAATG	0.408000													23	46					1.55469e-16	2.38736e-16	0.018920	1	0
NLRP12	91662	broad.mit.edu	37	19	54314216	54314216	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:54314216C>A	ENST00000324134.6	-	3	865	c.697G>T	c.(697-699)Gac>Tac	p.D233Y	NLRP12_ENST00000351894.4_Missense_Mutation_p.D233Y|NLRP12_ENST00000345770.5_Missense_Mutation_p.D233Y|NLRP12_ENST00000391772.1_Missense_Mutation_p.D233Y|NLRP12_ENST00000535162.1_Missense_Mutation_p.D233Y|NLRP12_ENST00000391775.3_Missense_Mutation_p.D233Y|NLRP12_ENST00000391773.1_Missense_Mutation_p.D233Y|NLRP12_ENST00000354278.3_Missense_Mutation_p.D233Y	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	233	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCGCCCAGTCCAGCATCACC	0.582000													15	55					1.3612e-06	1.65606e-06	0.003163	1	0
NLRP12	91662	broad.mit.edu	37	19	54314237	54314237	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:54314237G>C	ENST00000324134.6	-	3	844	c.676C>G	c.(676-678)Ctg>Gtg	p.L226V	NLRP12_ENST00000351894.4_Missense_Mutation_p.L226V|NLRP12_ENST00000345770.5_Missense_Mutation_p.L226V|NLRP12_ENST00000391772.1_Missense_Mutation_p.L226V|NLRP12_ENST00000535162.1_Missense_Mutation_p.L226V|NLRP12_ENST00000391775.3_Missense_Mutation_p.L226V|NLRP12_ENST00000391773.1_Missense_Mutation_p.L226V|NLRP12_ENST00000354278.3_Missense_Mutation_p.L226V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	226	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTGTGTGCCAGCATGGACTTG	0.582000													16	68					0	0	0.007413	0	0
E2F2	1870	broad.mit.edu	37	1	23850945	23850945	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:23850945C>G	ENST00000361729.2	-	2	714	c.288G>C	c.(286-288)agG>agC	p.R96S		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	96	Cyclin A/CDK2 binding (Potential).				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GGACGACGGGCCTCCCAATCC	0.572000													5	34					0	0	0.003080	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128958005	128958005	+	Silent	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:128958005T>C	ENST00000274487.4	+	10	1861	c.1716T>C	c.(1714-1716)ctT>ctC	p.L572L	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	572	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCCAGATCCTTTTTGGGCCAT	0.448000													7	25					0	0	0.001984	0	0
NFE2L3	9603	broad.mit.edu	37	7	26217588	26217588	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:26217588A>G	ENST00000056233.3	+	2	855	c.596A>G	c.(595-597)cAc>cGc	p.H199R		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	199					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AGAGAAAAGCACGAAGCTGTG	0.393000													12	58					0	0	0.016723	0	0
USP28	57646	broad.mit.edu	37	11	113683178	113683178	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:113683178C>A	ENST00000003302.4	-	16	1860	c.1792G>T	c.(1792-1794)Gct>Tct	p.A598S	USP28_ENST00000260188.5_Missense_Mutation_p.A598S|USP28_ENST00000545540.1_Missense_Mutation_p.A473S|USP28_ENST00000544967.1_Missense_Mutation_p.A306S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	598					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TAGTGTCCAGCATTTGCTTGT	0.433000													25	86					4.06085e-26	6.52921e-26	0.007291	1	0
MCF2	4168	broad.mit.edu	37	X	138670521	138670521	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:138670521G>T	ENST00000520602.1	-	24	2912	c.2627C>A	c.(2626-2628)aCa>aAa	p.T876K	MCF2_ENST00000338585.6_Missense_Mutation_p.T832K|MCF2_ENST00000370573.4_Missense_Mutation_p.T816K|MCF2_ENST00000414978.1_Missense_Mutation_p.T876K|MCF2_ENST00000536274.1_Missense_Mutation_p.T777K|MCF2_ENST00000519895.1_Missense_Mutation_p.T892K|MCF2_ENST00000370578.4_Missense_Mutation_p.T961K|MCF2_ENST00000370576.4_Missense_Mutation_p.T816K			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	816					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GAATTTACCTGTCAAAAGTTC	0.328000													10	39					2.17888e-05	2.56707e-05	0.006214	1	0
SNRPN	6638	broad.mit.edu	37	15	25222052	25222052	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:25222052G>T	ENST00000444203.2	+	5	1347	c.308G>T	c.(307-309)gGa>gTa	p.G103V	SNRPN_ENST00000400100.1_Missense_Mutation_p.G99V|SNRPN_ENST00000390687.4_Missense_Mutation_p.G99V|SNRPN_ENST00000554227.2_Missense_Mutation_p.G103V|SNRPN_ENST00000577565.1_Missense_Mutation_p.G99V|SNRPN_ENST00000400097.1_Missense_Mutation_p.G99V|SNRPN_ENST00000400098.1_Missense_Mutation_p.G99V|SNRPN_ENST00000346403.6_Missense_Mutation_p.G99V|SNURF_ENST00000338094.6_3'UTR			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	99					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CCACTTGCTGGAGCTGCTGGA	0.512000									Prader-Willi syndrome				14	75					1.99824e-07	2.52863e-07	0.004990	1	0
ALPK1	80216	broad.mit.edu	37	4	113356374	113356374	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:113356374G>T	ENST00000458497.1	+	12	3384	c.3105G>T	c.(3103-3105)ggG>ggT	p.G1035G	ALPK1_ENST00000504176.2_Silent_p.G957G|ALPK1_ENST00000177648.9_Silent_p.G1035G	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1035	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TCTATTTGGGGGACTACTTGA	0.348000													42	127					6.33695e-27	1.02289e-26	0.007835	1	0
ABCB7	22	broad.mit.edu	37	X	74282246	74282246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:74282246C>T	ENST00000253577.3	-	14	1879	c.1855G>A	c.(1855-1857)Gca>Aca	p.A619T	ABCB7_ENST00000373394.3_Missense_Mutation_p.A618T|ABCB7_ENST00000339447.4_Missense_Mutation_p.A578T	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	618	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CTTGCAATTGCTACTCTTTGC	0.353000													8	49					0	0	0.004482	0	0
SORCS1	114815	broad.mit.edu	37	10	108389130	108389130	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:108389130G>C	ENST00000263054.6	-	19	2499	c.2492C>G	c.(2491-2493)aCa>aGa	p.T831R	SORCS1_ENST00000369698.1_Missense_Mutation_p.T366R|SORCS1_ENST00000344440.6_Missense_Mutation_p.T831R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	831	PKD.					integral to membrane	neuropeptide receptor activity|protein binding			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)		TTGGATGAGTGTCCGCTGAAC	0.507000													5	25					0	0	0.001984	0	0
C7orf62	219557	broad.mit.edu	37	7	88423800	88423800	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:88423800C>A	ENST00000297203.2	-	2	642	c.457G>T	c.(457-459)Gtt>Ttt	p.V153F	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	153										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						ATAACTGGAACTTTTATCACT	0.348000													12	58					6.40141e-05	7.39318e-05	0.010729	1	0
CUL4B	8450	broad.mit.edu	37	X	119694442	119694442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:119694442G>A	ENST00000371322.5	-	1	113	c.52C>T	c.(52-54)Cag>Tag	p.Q18*	CUL4B_ENST00000336592.6_Nonsense_Mutation_p.Q23*|CUL4B_ENST00000404115.3_Nonsense_Mutation_p.Q36*	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	36	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGACCTCCTGAGCAGCAGCA	0.507000													5	16					0	0	0.014758	0	0
UNC93A	54346	broad.mit.edu	37	6	167708043	167708043	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:167708043G>T	ENST00000230256.3	+	2	301	c.126G>T	c.(124-126)gcG>gcT	p.A42A	UNC93A_ENST00000366829.2_Silent_p.A42A|UNC93A_ENST00000366830.2_3'UTR	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	42						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GTGTCACAGCGCTCAGCACCC	0.617000													102	114					3.71036e-49	6.08499e-49	0.014410	1	0
NRBP1	29959	broad.mit.edu	37	2	27663754	27663754	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:27663754C>T	ENST00000233557.3	+	15	2108	c.1276C>T	c.(1276-1278)Ccc>Tcc	p.P426S	NRBP1_ENST00000379852.3_Missense_Mutation_p.P426S|NRBP1_ENST00000379863.3_Missense_Mutation_p.P434S			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	426					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ACCTGTCGTGCCCCCCTCTGT	0.602000													12	76					0	0	0.010729	0	0
SGCZ	137868	broad.mit.edu	37	8	14095184	14095184	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:14095184C>A	ENST00000382080.1	-	4	1056	c.341G>T	c.(340-342)aGt>aTt	p.S114I	SGCZ_ENST00000421524.2_Missense_Mutation_p.S67I	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	101					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GACCAGCGGACTATCCTGGGA	0.353000													56	162					1.51943e-15	2.29876e-15	0.014410	1	0
LPAR5	57121	broad.mit.edu	37	12	6729716	6729716	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:6729716C>T	ENST00000329858.4	-	2	1455	c.699G>A	c.(697-699)gtG>gtA	p.V233V	LPAR5_ENST00000431922.1_Silent_p.V233V|LPAR5_ENST00000540335.1_5'UTR	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	233						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						GCAGGAGGCGCACGGTCTTCC	0.697000													4	5					0	0	0.009096	0	0
UPRT	139596	broad.mit.edu	37	X	74494242	74494242	+	Silent	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:74494242C>A	ENST00000373379.1	+	1	318	c.153C>A	c.(151-153)ctC>ctA	p.L51L	UPRT_ENST00000373383.4_Silent_p.L51L|UPRT_ENST00000531704.1_3'UTR			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	51					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						AGGTGATTCTCCTCACGGGGT	0.632000													6	32					5.9392e-07	7.37901e-07	0.001168	1	0
PCLO	27445	broad.mit.edu	37	7	82585852	82585852	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:82585852C>T	ENST00000423517.2	-	5	4754	c.4417G>A	c.(4417-4419)Gaa>Aaa	p.E1473K	PCLO_ENST00000333891.8_Missense_Mutation_p.E1473K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1404					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCCTTTCTTCTTGACTCTCT	0.363000													9	47					0	0	0.006214	0	0
SNHG14	104472715	broad.mit.edu	37	15	25307570	25307570	+	RNA	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:25307570G>A	ENST00000549804.2	+	0	397				SNORD116-5_ENST00000384462.1_RNA																							TCAGAACTGAGGTCCAGCACG	0.507000													12	93					0	0	0.020292	0	0
ZNF157	7712	broad.mit.edu	37	X	47272115	47272115	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:47272115G>C	ENST00000377073.3	+	4	729	c.643G>C	c.(643-645)Gag>Cag	p.E215Q		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	215					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TCACACAGGGGAGAGGCCCTT	0.443000													13	38					0	0	0.013537	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161609	90161609	+	RNA	SNP	A	A	G	rs139928438	by1000genomes	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr16:90161609A>G	ENST00000567960.1	+	0	345				TUBB8P7_ENST00000564451.1_RNA																							TGATGGAGTCAGTGATGGACG	0.617000													3	60					0	0	0.009096	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70523356	70523356	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:70523356G>A	ENST00000538820.1	+	5	744	c.404G>A	c.(403-405)gGa>gAa	p.G135E	ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.G153E			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	153					muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					CAGAACCCAGGATGTGATGCT	0.512000													19	89					0	0	0.012319	0	0
OR4C6	219432	broad.mit.edu	37	11	55432837	55432837	+	Silent	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:55432837C>A	ENST00000314259.3	+	1	224	c.195C>A	c.(193-195)tcC>tcA	p.S65S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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						CCTTCTTGTCCCTTTTGGATG	0.448000													21	93					2.4624e-09	3.37653e-09	0.008871	1	0
FAM47B	170062	broad.mit.edu	37	X	34962805	34962805	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:34962805C>G	ENST00000329357.5	+	1	1893	c.1857C>G	c.(1855-1857)gaC>gaG	p.D619E		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	619										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGACTTACGACTCTGTTAAGA	0.403000													29	162					0	0	0.007291	0	0
TCERG1	10915	broad.mit.edu	37	5	145838779	145838779	+	Silent	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:145838779A>G	ENST00000296702.5	+	4	809	c.771A>G	c.(769-771)ggA>ggG	p.G257G	TCERG1_ENST00000394421.2_Silent_p.G257G	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	257	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCAGTTGGAGCTTCCACCC	0.587000													3	115					0	0	0.004672	0	0
ZNF528	84436	broad.mit.edu	37	19	52919017	52919017	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:52919017G>T	ENST00000360465.3	+	7	1338	c.912G>T	c.(910-912)aaG>aaT	p.K304N	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AATGTGACAAGGTCTTCAATC	0.383000													11	61					3.86212e-05	4.49849e-05	0.008291	1	0
EHD3	30845	broad.mit.edu	37	2	31483477	31483477	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:31483477G>T	ENST00000322054.5	+	4	889	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	202					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TGAGTTCTCAGAAGTCATCAA	0.537000													17	39					1.99824e-07	2.52863e-07	0.004990	1	0
LRRK2	120892	broad.mit.edu	37	12	40740560	40740560	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:40740560C>T	ENST00000298910.7	+	42	6173	c.6115C>T	c.(6115-6117)Cgt>Tgt	p.R2039C		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2039	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCAGGGTTTCGTGCACCTGA	0.383000													4	26					0	0	0.009096	0	0
EYS	346007	broad.mit.edu	37	6	66094281	66094281	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:66094281T>C	ENST00000503581.1	-	8	1834	c.1297A>G	c.(1297-1299)Aaa>Gaa	p.K433E	EYS_ENST00000370621.3_Missense_Mutation_p.K433E|EYS_ENST00000393380.2_Missense_Mutation_p.K433E|EYS_ENST00000370616.2_Missense_Mutation_p.K433E|EYS_ENST00000370618.3_Missense_Mutation_p.K433E|EYS_ENST00000342421.5_Missense_Mutation_p.K433E	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	433					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTACTTACTTTGAATCTTCCA	0.318000													8	32					0	0	0.003080	0	0
MRC1	4360	broad.mit.edu	37	10	17865310	17865310	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:17865310G>A	ENST00000331429.2	+	2	402	c.299G>A	c.(298-300)tGg>tAg	p.W100*	MRC1L1_ENST00000457317.1_Nonsense_Mutation_p.W100*																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTTCAGAAATGGGAGTGCAAA	0.388000													19	93					0	0	0.006999	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134503939	134503939	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:134503939C>T	ENST00000372195.1	-	8	1257	c.1014G>A	c.(1012-1014)agG>agA	p.R338R	RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372189.3_Silent_p.R321R|RAPGEF1_ENST00000372190.3_Silent_p.R339R			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	321					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCATTACCTGCCTATTGATTC	0.612000													13	31					0	0	0.013537	0	0
SRPK3	26576	broad.mit.edu	37	X	153049747	153049747	+	Splice_Site	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:153049747A>T	ENST00000489426.1	+	17	3714		c.e17-1		SRPK3_ENST00000370101.3_Splice_Site|SRPK3_ENST00000393786.3_Splice_Site|SRPK3_ENST00000370108.3_Splice_Site|SRPK3_ENST00000370104.1_Splice_Site|SRPK3_ENST00000370100.1_Splice_Site			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3						cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCCTTCCCCAGCACCATTCG	0.612000													12	56					0	0	0.010729	0	0
GRM3	2913	broad.mit.edu	37	7	86468529	86468529	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:86468529G>T	ENST00000361669.2	+	4	2798	c.1699G>T	c.(1699-1701)Gag>Tag	p.E567*	GRM3_ENST00000546348.1_Nonsense_Mutation_p.E159*|GRM3_ENST00000536043.1_Nonsense_Mutation_p.E439*|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	567					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGACCTTCCTGAGGACTACAT	0.498000													15	91					7.93312e-07	9.76751e-07	0.020292	1	0
IL13RA1	3597	broad.mit.edu	37	X	117880977	117880977	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:117880977C>A	ENST00000371666.3	+	3	356	c.289C>A	c.(289-291)Caa>Aaa	p.Q97K	IL13RA1_ENST00000371642.1_Missense_Mutation_p.Q97K	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	97						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						GATTTGTCTGCAAGTGGGGTC	0.438000													16	85					1.15088e-07	1.47456e-07	0.004007	1	0
C11orf82	220042	broad.mit.edu	37	11	82644765	82644765	+	Silent	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:82644765T>A	ENST00000533655.1	+	6	2597	c.2385T>A	c.(2383-2385)ccT>ccA	p.P795P	C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Silent_p.P795P|C11orf82_ENST00000329143.3_Silent_p.P494P	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	795			P -> R (in dbSNP:rs11826199).		apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TCAAAAAACCTGTATTTTATT	0.343000													9	33					0	0	0.004482	0	0
EHMT1	79813	broad.mit.edu	37	9	140611505	140611505	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:140611505G>A	ENST00000460843.1	+	3	540	c.513G>A	c.(511-513)acG>acA	p.T171T	EHMT1_ENST00000334856.6_Silent_p.T140T|EHMT1_ENST00000462484.1_Silent_p.T171T|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	171					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TTCCCCAGACGCCAGCCGCCC	0.662000													36	47					0	0	0.017118	0	0
GP6	51206	broad.mit.edu	37	19	55538970	55538970	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:55538970C>A	ENST00000310373.3	-	4	613	c.586G>T	c.(586-588)Gac>Tac	p.D196Y	CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000417454.1_Missense_Mutation_p.D196Y|GP6_ENST00000333884.2_Missense_Mutation_p.D196Y|CTC-550B14.6_ENST00000585492.1_RNA	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	196	Ig-like C2-type 2.				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		TCCAGGGGGTCGCTGGGGGCT	0.587000													7	98					1.06961e-07	1.37906e-07	0.003080	1	0
ZCCHC12	170261	broad.mit.edu	37	X	117959998	117959998	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:117959998T>C	ENST00000310164.2	+	4	1298	c.791T>C	c.(790-792)aTa>aCa	p.I264T		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						TGCAATGTGATAGAGATAGAT	0.567000													12	82					0	0	0.016723	0	0
RRAGB	10325	broad.mit.edu	37	X	55784705	55784705	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:55784705C>A	ENST00000374941.4	+	10	1559	c.970C>A	c.(970-972)Cgc>Agc	p.R324S	RRAGB_ENST00000262850.7_Missense_Mutation_p.R352S	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	352					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GATCAACATCCGCAATGCCAG	0.443000													9	38					0.000442599	0.000497166	0.006214	1	0
PHKA2	5256	broad.mit.edu	37	X	18919705	18919705	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:18919705G>T	ENST00000379942.4	-	27	3590	c.2925C>A	c.(2923-2925)tcC>tcA	p.S975S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	975					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGGATGTGGAGGAGTGGATAG	0.557000													11	41					4.68919e-08	6.08407e-08	0.008291	1	0
FNDC3A	22862	broad.mit.edu	37	13	49777296	49777296	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:49777296C>T	ENST00000492622.2	+	25	3463	c.3158C>T	c.(3157-3159)cCc>cTc	p.P1053L	FNDC3A_ENST00000398316.3_Missense_Mutation_p.P997L|FNDC3A_ENST00000541916.1_Missense_Mutation_p.P1053L	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1053	Fibronectin type-III 9.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CCTACAGCCCCCAAAATAGAG	0.303000													5	24					0	0	0.014758	0	0
CABP1	9478	broad.mit.edu	37	12	121093779	121093779	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:121093779C>T	ENST00000453000.1	+	1	678	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	CABP1_ENST00000288616.3_Intron|CABP1_ENST00000351200.2_Intron|CABP1_ENST00000316803.3_Intron			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	31						cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCTGAACCCCGCTCCTTGAC	0.592000													3	6					0	0	0.004672	0	0
PHEX	5251	broad.mit.edu	37	X	22129609	22129609	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:22129609G>C	ENST00000379374.4	+	10	1669	c.1104G>C	c.(1102-1104)tgG>tgC	p.W368C	PHEX_ENST00000537599.1_Missense_Mutation_p.W368C|PHEX_ENST00000418858.3_Missense_Mutation_p.W71C|PHEX_ENST00000535894.1_Missense_Mutation_p.W271C	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	368					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						ATTTGGTGTGGAGAATGGTTT	0.398000													42	201					0	0	0.010771	0	0
AHNAK	79026	broad.mit.edu	37	11	62297865	62297865	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:62297865C>A	ENST00000378024.4	-	5	4298	c.4024G>T	c.(4024-4026)Gat>Tat	p.D1342Y	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1342					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAGGACACATCCACATCTCCC	0.478000													55	233					5.39261e-20	8.43882e-20	0.014410	1	0
PMS1	5378	broad.mit.edu	37	2	190718963	190718963	+	Splice_Site	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:190718963A>G	ENST00000441310.2	+	9	1199		c.e9-1		PMS1_ENST00000421722.1_Splice_Site|PMS1_ENST00000447232.2_Splice_Site|PMS1_ENST00000432292.3_Splice_Site|PMS1_ENST00000409823.3_Splice_Site|PMS1_ENST00000418224.3_Splice_Site	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)						mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TTGTATTTTTAGGAATCTGTT	0.234000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					4	30					0	0	0.009096	0	0
TRIP10	9322	broad.mit.edu	37	19	6746509	6746509	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:6746509G>A	ENST00000600428.1	+	10	1353	c.707G>A	c.(706-708)cGa>cAa	p.R236Q	TRIP10_ENST00000313244.9_Missense_Mutation_p.R400Q|TRIP10_ENST00000596758.1_Missense_Mutation_p.R344Q|TRIP10_ENST00000313285.8_Missense_Mutation_p.R344Q			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	354	Induction of membrane tubulation.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GAGCAGCAGCGAAAACGGCTT	0.547000													10	75					0	0	0.013537	0	0
C10orf12	26148	broad.mit.edu	37	10	98743264	98743264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:98743264C>T	ENST00000286067.2	+	1	2224	c.2117C>T	c.(2116-2118)tCg>tTg	p.S706L		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	706										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CTTGGGTTGTCGAGTAGTGGA	0.507000													12	48					0	0	0.013537	0	0
NKX6-1	4825	broad.mit.edu	37	4	85414622	85414622	+	Silent	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:85414622C>G	ENST00000295886.4	-	3	1145	c.924G>C	c.(922-924)tcG>tcC	p.S308S	NKX6-1_ENST00000515820.2_Silent_p.S34S	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	308	Involved in DNA-binding (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		GCTCTGTCTCCGAGTCCTGCT	0.597000													40	67					0	0	0.007835	0	0
SYT16	83851	broad.mit.edu	37	14	62547851	62547851	+	Silent	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:62547851T>C	ENST00000430451.2	+	4	1490	c.1293T>C	c.(1291-1293)tgT>tgC	p.C431C	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	431	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGGCTGCCTGTGCTGTCCGCT	0.572000													6	23					0	0	0.001168	0	0
OR10A7	121364	broad.mit.edu	37	12	55615641	55615641	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:55615641A>G	ENST00000326258.1	+	1	833	c.833A>G	c.(832-834)tAc>tGc	p.Y278C		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCATTGTCCTACACTGTCATC	0.493000													19	54					0	0	0.007413	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20495403	20495403	+	RNA	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:20495403G>T	ENST00000555186.1	+	0	606					NR_038836.1																						GATCTTCTGTGTGAGGAAAAT	0.398000													9	78					0.00448238	0.0048877	0.004482	1	0
MYH7	4625	broad.mit.edu	37	14	23885218	23885218	+	Silent	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:23885218A>G	ENST00000355349.3	-	34	5110	c.4948T>C	c.(4948-4950)Ttg>Ctg	p.L1650L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1650					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGTACCTTCAACAAGCTCTGG	0.582000													4	77					0	0	0.001984	0	0
RGAG1	57529	broad.mit.edu	37	X	109695144	109695144	+	Silent	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:109695144C>G	ENST00000465301.2	+	3	1545	c.1299C>G	c.(1297-1299)gcC>gcG	p.A433A	RGAG1_ENST00000540313.1_Silent_p.A433A	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	433										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CAGTTCCAGCCTCTGGAGCCA	0.512000													34	227					0	0	0.013726	0	0
DPPA2	151871	broad.mit.edu	37	3	109031461	109031461	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:109031461C>T	ENST00000478945.1	-	3	358	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	38						nucleus	nucleic acid binding	p.E38K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCATTTGTTCCATATTTGCG	0.418000													23	83					0	0	0.012319	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158752	26158752	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:26158752G>T	ENST00000289316.2	+	1	379	c.355G>T	c.(355-357)Gtc>Ttc	p.V119F	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.V119F	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	119					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						CACCAAGGCCGTCACCAAGTA	0.552000													23	68					2.21704e-12	3.17827e-12	0.016522	1	0
KEAP1	9817	broad.mit.edu	37	19	10602622	10602622	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:10602622C>A	ENST00000171111.5	-	3	1503	c.956G>T	c.(955-957)tGc>tTc	p.C319F	KEAP1_ENST00000393623.2_Missense_Mutation_p.C319F|KEAP1_ENST00000588024.1_Intron	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GGGCGCCCGGCAGGGCATCAC	0.642000													14	34					9.31168e-06	1.11306e-05	0.016723	1	0
PIKFYVE	200576	broad.mit.edu	37	2	209207340	209207340	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:209207340A>G	ENST00000264380.4	+	32	5152	c.4994A>G	c.(4993-4995)aAg>aGg	p.K1665R		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1665					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			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						GTCTGCGAGAAGGAACCCAGC	0.343000													10	51					0	0	0.008291	0	0
COL6A3	1293	broad.mit.edu	37	2	238242141	238242141	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:238242141T>C	ENST00000295550.4	-	42	9732	c.9280A>G	c.(9280-9282)Acc>Gcc	p.T3094A	COL6A3_ENST00000347401.3_Missense_Mutation_p.T2893A|COL6A3_ENST00000346358.4_Missense_Mutation_p.T2894A|COL6A3_ENST00000409809.1_Missense_Mutation_p.T2888A|COL6A3_ENST00000353578.4_Missense_Mutation_p.T2888A|COL6A3_ENST00000472056.1_Missense_Mutation_p.T2487A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3094	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			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)		AGATTGATGGTTGAACTAGAA	0.423000													13	65					0	0	0.004007	0	0
SMPD3	55512	broad.mit.edu	37	16	68395622	68395622	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr16:68395622A>T	ENST00000219334.5	-	8	2353	c.1750T>A	c.(1750-1752)Ttt>Att	p.F584I	SMPD3_ENST00000568373.1_Intron|SMPD3_ENST00000563226.1_Missense_Mutation_p.F576I	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	584					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CTGGTGGGAAACGCCAGGTAC	0.682000													20	57					0	0	0.007413	0	0
VPS13C	54832	broad.mit.edu	37	15	62217667	62217667	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:62217667T>G	ENST00000261517.5	-	53	6670	c.6597A>C	c.(6595-6597)gaA>gaC	p.E2199D	VPS13C_ENST00000395898.3_Missense_Mutation_p.E2156D|VPS13C_ENST00000395896.4_Missense_Mutation_p.E2199D|VPS13C_ENST00000249837.3_Missense_Mutation_p.E2156D	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2199					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TAATTATAAATTCTTTAACCA	0.294000													3	5					0	0	0.004672	0	0
ZNF182	7569	broad.mit.edu	37	X	47836067	47836067	+	Silent	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:47836067G>C	ENST00000396965.1	-	7	1769	c.1419C>G	c.(1417-1419)ctC>ctG	p.L473L	ZNF182_ENST00000376943.3_Silent_p.L454L|ZNF182_ENST00000305127.6_Silent_p.L473L	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						GATGCAGCATGAGGTAGGACT	0.393000													9	59					0	0	0.008291	0	0
ZNF114	163071	broad.mit.edu	37	19	48785741	48785741	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:48785741C>T	ENST00000595607.1	+	5	617	c.123C>T	c.(121-123)aaC>aaT	p.N41N	ZNF114_ENST00000315849.1_Silent_p.N41N|ZNF114_ENST00000600687.1_Silent_p.N41N|ZNF114_ENST00000597695.1_Silent_p.N7N			Q8NC26	ZN114_HUMAN	zinc finger protein 114	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		ATTCTAGGAACTTGGCATTCA	0.527000													13	113					0	0	0.016723	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507088	74507088	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:74507088G>T	ENST00000354431.4	-	7	1718	c.1527C>A	c.(1525-1527)tcC>tcA	p.S509S	LRRIQ3_ENST00000395089.1_Silent_p.S509S	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	509										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AAGCCTTTTGGGATTTTTCTT	0.363000													7	96					2.7689e-08	3.63861e-08	0.001984	1	0
BAI3	577	broad.mit.edu	37	6	69684742	69684742	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:69684742C>T	ENST00000370598.1	+	9	2434	c.1613C>T	c.(1612-1614)cCc>cTc	p.P538L		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	538					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATCAATGTCCCCTGAATGCC	0.443000													13	33					0	0	0.016723	0	0
PMFBP1	83449	broad.mit.edu	37	16	72188257	72188257	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr16:72188257T>A	ENST00000537465.1	-	4	425	c.267A>T	c.(265-267)aaA>aaT	p.K89N	PMFBP1_ENST00000237353.10_Missense_Mutation_p.K89N|PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000543746.1_5'UTR			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	89										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GGACCAGCAATTTTTTCTTCA	0.453000													17	88					0	0	0.004007	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206646	142206646	+	RNA	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:142206646G>T	ENST00000426318.2	-	0	259																											AATATCAGCAGCTGCTGAGTA	0.507000													35	128					1.56738e-10	2.20077e-10	0.019004	1	0
EYS	346007	broad.mit.edu	37	6	66044934	66044934	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:66044934C>T	ENST00000503581.1	-	11	2242	c.1705G>A	c.(1705-1707)Gat>Aat	p.D569N	EYS_ENST00000370621.3_Missense_Mutation_p.D569N|EYS_ENST00000393380.2_Missense_Mutation_p.D569N|EYS_ENST00000370616.2_Missense_Mutation_p.D569N|EYS_ENST00000370618.3_Missense_Mutation_p.D569N|EYS_ENST00000342421.5_Missense_Mutation_p.D569N	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	569	EGF-like 6.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCTTGATCATCAGTTGTATTT	0.353000													5	58					0	0	0.001168	0	0
NR0B1	190	broad.mit.edu	37	X	30327463	30327463	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:30327463G>A	ENST00000378970.4	-	1	252	c.18C>T	c.(16-18)caC>caT	p.H6H	NR0B1_ENST00000453287.1_Silent_p.H6H	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	6	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CCTGCCACTGGTGGTTCTCGC	0.662000													6	14					0	0	0.001168	0	0
PSME4	23198	broad.mit.edu	37	2	54117299	54117299	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:54117299A>T	ENST00000404125.1	-	37	4293	c.4238T>A	c.(4237-4239)cTg>cAg	p.L1413Q	PSME4_ENST00000421748.2_Missense_Mutation_p.L557Q	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1413					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AATATTGGACAGTGCTGTTCT	0.388000													26	119					0	0	0.006320	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090898	91090898	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:91090898T>C	ENST00000373094.1	+	1	1240	c.395T>C	c.(394-396)aTa>aCa	p.I132T	PCDH11X_ENST00000298274.8_Missense_Mutation_p.I132T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.I132T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.I132T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.I132T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.I132T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.I132T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.I132T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.I132T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	132	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			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						ATAGAAGATATAAATGATAAT	0.388000													13	51					0	0	0.007413	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650773	75650773	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:75650773G>T	ENST00000361470.2	+	1	2728	c.2450G>T	c.(2449-2451)cGa>cTa	p.R817L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	817	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGTACAACCGAAGGGAGATG	0.488000													10	52					6.40141e-05	7.39318e-05	0.010729	1	0
TACC1	6867	broad.mit.edu	37	8	38688648	38688648	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:38688648G>A	ENST00000379931.3	+	7	2081	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	TACC1_ENST00000518415.1_Missense_Mutation_p.E482K|TACC1_ENST00000520340.1_Missense_Mutation_p.E491K|TACC1_ENST00000443286.2_Missense_Mutation_p.E543K|TACC1_ENST00000330691.6_Missense_Mutation_p.E130K|TACC1_ENST00000520973.1_Missense_Mutation_p.E332K|TACC1_ENST00000276520.8_Missense_Mutation_p.E146K|TACC1_ENST00000348567.4_Missense_Mutation_p.E118K|TACC1_ENST00000519416.1_Missense_Mutation_p.E360K|TACC1_ENST00000317827.4_Missense_Mutation_p.E556K|TACC1_ENST00000520615.1_Missense_Mutation_p.E361K|TACC1_ENST00000522752.1_3'UTR|TACC1_ENST00000520611.1_5'UTR			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	556					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CTTAGGCATAGAGAAGGAGAC	0.483000													9	29					0	0	0.006214	0	0
ABCB1	5243	broad.mit.edu	37	7	87135257	87135257	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:87135257G>C	ENST00000265724.3	-	28	4009	c.3592C>G	c.(3592-3594)Ctt>Gtt	p.L1198V	ABCB1_ENST00000543898.1_Missense_Mutation_p.L1134V|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1198	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TCATCCAAAAGCAAAATATGA	0.418000													10	36					0	0	0.006214	0	0
CDCA7L	55536	broad.mit.edu	37	7	21942677	21942677	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:21942677C>A	ENST00000406877.3	-	9	1532	c.1253G>T	c.(1252-1254)cGt>cTt	p.R418L	CDCA7L_ENST00000356195.5_Missense_Mutation_p.R384L|CDCA7L_ENST00000373934.4_Missense_Mutation_p.R372L	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	418					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GCGGCCGTCACGCTTCCGACA	0.493000													9	39					0.000442599	0.000497166	0.006214	1	0
FOXJ2	55810	broad.mit.edu	37	12	8192621	8192621	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:8192621G>T	ENST00000162391.3	+	2	1338	c.193G>T	c.(193-195)Ggc>Tgc	p.G65C	FOXJ2_ENST00000428177.2_Missense_Mutation_p.G65C	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	65					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GCACCAGGACGGCAAGCCACG	0.582000													18	73					1.78486e-19	2.78249e-19	0.007413	1	0
ZNF280A	129025	broad.mit.edu	37	22	22868532	22868532	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr22:22868532G>C	ENST00000302097.3	-	2	1675	c.1423C>G	c.(1423-1425)Caa>Gaa	p.Q475E		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTAAATGTTTGATGGTCCTTG	0.458000													27	83					0	0	0.005443	0	0
WNT5A	7474	broad.mit.edu	37	3	55513456	55513456	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:55513456T>C	ENST00000474267.1	-	4	798	c.277A>G	c.(277-279)Atc>Gtc	p.I93V	WNT5A_ENST00000264634.4_Missense_Mutation_p.I93V|WNT5A_ENST00000497027.1_Missense_Mutation_p.I78V			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	93					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CCTTCTCCGATGTACTGCATG	0.483000													31	81					0	0	0.012213	0	0
CNOT1	23019	broad.mit.edu	37	16	58612676	58612676	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr16:58612676G>C	ENST00000317147.5	-	13	1843	c.1511C>G	c.(1510-1512)tCc>tGc	p.S504C	CNOT1_ENST00000569240.1_Missense_Mutation_p.S504C|CNOT1_ENST00000441024.2_Missense_Mutation_p.S504C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	504					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CATCAGAGTGGAGATAAGTTC	0.448000													9	65					0	0	0.004482	0	0
CDH10	1008	broad.mit.edu	37	5	24511436	24511436	+	Splice_Site	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:24511436C>A	ENST00000264463.4	-	6	1509	c.1002_splice	c.e6+1	p.K334_splice		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	334	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGCTGTGCACCTTTTTCACAG	0.403000										HNSCC(23;0.051)			21	78					5.26018e-13	7.7024e-13	0.012319	1	0
AQP6	363	broad.mit.edu	37	12	50367220	50367220	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:50367220C>T	ENST00000315520.5	+	1	601	c.264C>T	c.(262-264)gcC>gcT	p.A88A	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	88					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						TGACGCTGGCCTTCCTCGTAG	0.657000													15	82					0	0	0.006320	0	0
MUC16	94025	broad.mit.edu	37	19	9010683	9010683	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:9010683G>C	ENST00000397910.4	-	38	39181	c.38978C>G	c.(38977-38979)aCc>aGc	p.T12993S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12995					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCCCTGAGGTCCCAAGGTC	0.512000													6	26					0	0	0.001168	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147259327	147259327	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:147259327G>T	ENST00000361727.3	+	12	2391	c.1875G>T	c.(1873-1875)ctG>ctT	p.L625L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	625	Fibrinogen C-terminal.				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			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)			TGGGGCCTCTGAAAGTTTACT	0.408000										HNSCC(39;0.1)			6	56					6.5536e-12	9.26543e-12	0.003080	1	0
GABRB1	2560	broad.mit.edu	37	4	47163453	47163453	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:47163453T>C	ENST00000295454.3	+	4	720	c.428T>C	c.(427-429)cTg>cCg	p.L143P	GABRB1_ENST00000538619.1_Missense_Mutation_p.L73P	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	143					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATGATTCGACTGCATCCTGAT	0.388000													18	92					0	0	0.006122	0	0
PTCHD4	442213	broad.mit.edu	37	6	48036085	48036085	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:48036085A>T	ENST00000543600.1	-	1	295	c.256T>A	c.(256-258)Tcg>Acg	p.S86T	PTCHD4_ENST00000339488.4_Missense_Mutation_p.S103T			Q6ZW05	CF138_HUMAN	patched domain containing 4	103						integral to membrane	hedgehog receptor activity										TGTAAGTCCGAATAGAGCTGG	0.627000													22	87					0	0	0.014323	0	0
MED24	9862	broad.mit.edu	37	17	38184186	38184186	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:38184186T>A	ENST00000394126.1	-	14	1916	c.1498A>T	c.(1498-1500)Aca>Tca	p.T500S	MED24_ENST00000394127.2_Missense_Mutation_p.T462S|MED24_ENST00000356271.3_Missense_Mutation_p.T462S|MED24_ENST00000501516.3_Missense_Mutation_p.T494S|MED24_ENST00000394128.2_Missense_Mutation_p.T475S			O75448	MED24_HUMAN	mediator complex subunit 24	475					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CCATAGGTTGTGAATTCATTC	0.577000													4	130					0	0	0.009096	0	0
DNAH7	56171	broad.mit.edu	37	2	196825534	196825534	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:196825534T>C	ENST00000312428.6	-	18	2441	c.2341A>G	c.(2341-2343)Aga>Gga	p.R781G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	781	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTCCATGCTCTATAGTTGCTG	0.383000													32	122					0	0	0.010818	0	0
REG3G	130120	broad.mit.edu	37	2	79255021	79255021	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:79255021T>A	ENST00000272324.5	+	5	606	c.422T>A	c.(421-423)tTa>tAa	p.L141*	REG3G_ENST00000409471.1_Nonsense_Mutation_p.L95*|REG3G_ENST00000393897.2_Nonsense_Mutation_p.L141*	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	141	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCACCATCTTAAACCCTGGC	0.498000													20	94					0	0	0.008871	0	0
SLC5A1	6523	broad.mit.edu	37	22	32479071	32479071	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr22:32479071G>A	ENST00000266088.4	+	7	844	c.594G>A	c.(592-594)gcG>gcA	p.A198A	SLC5A1_ENST00000543737.1_Silent_p.A71A	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	198					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.A198A(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GGGGCCTGGCGGCGGTGATTT	0.572000													7	45					0	0	0.001984	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7506611	7506611	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:7506611G>T	ENST00000593531.1	+	5	488	c.488G>T	c.(487-489)tGt>tTt	p.C163F	ARHGEF18_ENST00000359920.6_Silent_p.L205L|ARHGEF18_ENST00000319670.9_Silent_p.L47L																							ATGACTCTCTGTCCCTTACAT	0.458000													27	96					2.12542e-12	3.07922e-12	0.006320	1	0
OR2W1	26692	broad.mit.edu	37	6	29012922	29012922	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:29012922C>T	ENST00000377175.1	-	1	95	c.31G>A	c.(31-33)Ggt>Agt	p.G11S		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AGAATAAAACCATGTAAAGAA	0.403000													15	41					0	0	0.004990	0	0
SAA3P	6290	broad.mit.edu	37	11	18134287	18134287	+	RNA	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:18134287G>T	ENST00000534768.1	-	0	373					NR_026576.1															lung(2)	2						GTCTCTGGACGTTCTCTCTGG	0.562000													3	8					0.00909568	0.009788	0.009096	1	0
TBC1D25	4943	broad.mit.edu	37	X	48418232	48418232	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:48418232G>A	ENST00000376771.4	+	6	1277	c.936G>A	c.(934-936)cgG>cgA	p.R312R	TBC1D25_ENST00000537536.1_Silent_p.R58R|TBC1D25_ENST00000481090.1_3'UTR|TBC1D25_ENST00000427713.1_3'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	312	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CACATCTACGGGCGCTGCACG	0.622000													9	37					0	0	0.004482	0	0
ITSN2	50618	broad.mit.edu	37	2	24484540	24484540	+	Silent	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:24484540T>A	ENST00000355123.4	-	21	2870	c.2427A>T	c.(2425-2427)ccA>ccT	p.P809P	ITSN2_ENST00000361999.3_Silent_p.P782P|ITSN2_ENST00000406921.3_Silent_p.P809P	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	809	SH3 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATAATTGCATGGAAACCAGC	0.368000													7	37					0	0	0.001984	0	0
ATP11C	286410	broad.mit.edu	37	X	138844238	138844238	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:138844238G>T	ENST00000370557.1	-	22	3540	c.2513C>A	c.(2512-2514)gCa>gAa	p.A838E	ATP11C_ENST00000359686.2_Missense_Mutation_p.A844E|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Missense_Mutation_p.A844E|ATP11C_ENST00000361648.2_Missense_Mutation_p.A844E|ATP11C_ENST00000327569.3_Missense_Mutation_p.A844E			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	844					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATTCCTAGCTGCTTGGCGACC	0.363000													27	136					3.1745e-13	4.66503e-13	0.008361	1	0
C9orf89	84270	broad.mit.edu	37	9	95872917	95872917	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:95872917G>T	ENST00000375464.2	+	3	346	c.218G>T	c.(217-219)gGt>gTt	p.G73V	C9orf89_ENST00000488630.1_3'UTR	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	73	CARD.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						CAGCGGAGCGGTGAGCGGGAC	0.642000													46	72					1.4659e-37	2.3945e-37	0.014410	1	0
DIP2A	23181	broad.mit.edu	37	21	47931456	47931456	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr21:47931456C>T	ENST00000318711.7	+	8	1217	c.1034C>T	c.(1033-1035)aCa>aTa	p.T345I	DIP2A_ENST00000457905.3_Missense_Mutation_p.T344I|DIP2A_ENST00000435722.3_Missense_Mutation_p.T344I|DIP2A_ENST00000466639.1_Missense_Mutation_p.T301I|DIP2A_ENST00000400274.1_Missense_Mutation_p.T340I|DIP2A_ENST00000427143.2_Missense_Mutation_p.T280I|DIP2A_ENST00000417564.2_Missense_Mutation_p.T344I	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	344					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CGCTGGGGCACAACACAGCCC	0.582000													6	26					0	0	0.001984	0	0
KIAA1024	23251	broad.mit.edu	37	15	79748907	79748907	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:79748907G>A	ENST00000305428.3	+	2	493	c.418G>A	c.(418-420)Gag>Aag	p.E140K		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	140						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CCTGAACTGTGAGCTGAGTGA	0.577000													9	82					0	0	0.004482	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150529140	150529140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:150529140G>A	ENST00000271643.4	+	10	1856	c.1620G>A	c.(1618-1620)tgG>tgA	p.W540*	ADAMTSL4_ENST00000369039.5_Nonsense_Mutation_p.W563*|ADAMTSL4_ENST00000369041.5_Nonsense_Mutation_p.W540*|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Nonsense_Mutation_p.W540*	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	540					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ATGGGAACTGGGCTGTGGATC	0.612000													16	147					0	0	0.004990	0	0
ATXN7	6314	broad.mit.edu	37	3	63898838	63898838	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:63898838G>A	ENST00000398590.3	+	4	884	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	ATXN7_ENST00000487717.1_Missense_Mutation_p.E111K|ATXN7_ENST00000538065.1_Missense_Mutation_p.E111K|ATXN7_ENST00000295900.6_Missense_Mutation_p.E111K	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	111					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CCTAGGGACAGAATTGGACGA	0.572000													8	25					0	0	0.004482	0	0
RPIA	22934	broad.mit.edu	37	2	88991474	88991474	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:88991474C>T	ENST00000283646.4	+	1	313	c.258C>T	c.(256-258)ggC>ggT	p.G86G		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	86					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				AGCTGGCGGGCCGCGCGGCTG	0.672000													5	15					0	0	0.014758	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518605	113518605	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:113518605A>G	ENST00000284601.3	-	4	2610	c.2542T>C	c.(2542-2544)Tcc>Ccc	p.S848P		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	848					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACCCATGAGGATTCTTCCACA	0.373000													3	127					0	0	0.004672	0	0
FBLN2	2199	broad.mit.edu	37	3	13670762	13670762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:13670762C>T	ENST00000404922.3	+	13	2931	c.2812C>T	c.(2812-2814)Cag>Tag	p.Q938*	FBLN2_ENST00000492059.1_Nonsense_Mutation_p.Q938*|FBLN2_ENST00000295760.7_Nonsense_Mutation_p.Q891*|FBLN2_ENST00000535798.1_Nonsense_Mutation_p.Q917*	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	933	EGF-like 7; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGCCGGCTTTCAGCGGGATGC	0.642000													7	18					0	0	0.003080	0	0
SCN7A	6332	broad.mit.edu	37	2	167301445	167301445	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:167301445A>T	ENST00000409855.1	-	12	1579	c.1453T>A	c.(1453-1455)Tgg>Agg	p.W485R		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	485					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GAACAATTCCAGATCAAGAAA	0.303000													9	25					0	0	0.008291	0	0
LONRF1	91694	broad.mit.edu	37	8	12583338	12583338	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:12583338A>T	ENST00000398246.3	-	11	2130	c.2061T>A	c.(2059-2061)gtT>gtA	p.V687V	LONRF1_ENST00000533751.1_Silent_p.V330V|LONRF1_ENST00000525024.1_Silent_p.V113V	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	687	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		CTTGAGAGTAAACCAAATCAT	0.413000													4	33					0	0	0.009096	0	0
COL22A1	169044	broad.mit.edu	37	8	139601515	139601515	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:139601515C>A	ENST00000303045.6	-	65	5308	c.4862G>T	c.(4861-4863)gGt>gTt	p.G1621V	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1601V|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1621					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTCACATTACCCGGCCGGGC	0.587000										HNSCC(7;0.00092)			6	51					0.00116845	0.00129127	0.001168	1	0
CDX4	1046	broad.mit.edu	37	X	72667341	72667341	+	Silent	SNP	C	C	T	rs146093321		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:72667341C>T	ENST00000373514.2	+	1	252	c.252C>T	c.(250-252)agC>agT	p.S84S		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	84						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AAGACTGGAGCGTGTATCCTG	0.607000													8	57					0	0	0.004482	0	0
CASD1	64921	broad.mit.edu	37	7	94146967	94146967	+	Splice_Site	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:94146967A>T	ENST00000297273.4	+	2	516	c.230_splice	c.e2+1	p.S77_splice		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	77						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATACAAAATCAGGTAACATTT	0.378000													5	44					0	0	0.014758	0	0
MKI67	4288	broad.mit.edu	37	10	129906870	129906870	+	Silent	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:129906870T>A	ENST00000368654.3	-	13	3609	c.3234A>T	c.(3232-3234)ccA>ccT	p.P1078P	MKI67_ENST00000368653.3_Silent_p.P718P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1078	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CACGGGCTGCTGGGTCCAGGA	0.557000													27	199					0	0	0.004656	0	0
MROH2B	133558	broad.mit.edu	37	5	41061778	41061778	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:41061778C>A	ENST00000399564.4	-	6	959	c.509G>T	c.(508-510)aGa>aTa	p.R170I		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GGGAAAATCTCTCCAGTGGTT	0.458000													22	79					4.35082e-09	5.92636e-09	0.010504	1	0
SIRT2	22933	broad.mit.edu	37	19	39390156	39390156	+	Silent	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:39390156T>C	ENST00000249396.7	-	1	307	c.6A>G	c.(4-6)gcA>gcG	p.A2A	SIRT2_ENST00000358931.5_Silent_p.A2A|SIRT2_ENST00000481381.1_5'UTR|SIRT2_ENST00000392081.2_5'UTR	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	sirtuin 2	2					cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GGTCTGGCTCTGCCATGGGCG	0.706000													12	34					0	0	0.013537	0	0
IRS4	8471	broad.mit.edu	37	X	107978562	107978562	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:107978562G>T	ENST00000372129.2	-	1	1089	c.1013C>A	c.(1012-1014)gCc>gAc	p.A338D		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	338						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCGGCAGCGGGCTCTGTATTC	0.597000													47	275					4.21674e-32	6.86056e-32	0.014410	1	0
WWC3	55841	broad.mit.edu	37	X	10096607	10096607	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:10096607C>T	ENST00000380861.4	+	17	2682	c.2291C>T	c.(2290-2292)aCg>aTg	p.T764M	WWC3_ENST00000454666.1_Missense_Mutation_p.T764M	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	764										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GATGCGGTGACGGTGCTCCTG	0.667000													4	24					0	0	0.009096	0	0
TENM1	10178	broad.mit.edu	37	X	123805604	123805604	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:123805604C>A	ENST00000422452.2	-	6	1160	c.1097G>T	c.(1096-1098)aGg>aTg	p.R366M	TENM1_ENST00000371130.3_Missense_Mutation_p.R366M	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTCGGTCCCCCTGTTCCCTTT	0.438000													26	145					3.6726e-16	5.57691e-16	0.021523	1	0
LDHC	3948	broad.mit.edu	37	11	18451425	18451425	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:18451425C>A	ENST00000541669.1	+	4	497	c.386C>A	c.(385-387)cCt>cAt	p.P129H	LDHC_ENST00000280704.4_Missense_Mutation_p.P129H|LDHC_ENST00000544105.1_Missense_Mutation_p.P129H|LDHC_ENST00000537486.1_Missense_Mutation_p.P129H|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000536880.1_Missense_Mutation_p.P115H|LDHC_ENST00000535809.1_Missense_Mutation_p.P129H			P07864	LDHC_HUMAN	lactate dehydrogenase C	129					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	CATTATAGTCCTGATTGTAAA	0.413000													11	67					7.03913e-09	9.46243e-09	0.013537	1	0
SOX1	6656	broad.mit.edu	37	13	112722188	112722188	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:112722188G>T	ENST00000330949.1	+	1	276	c.216G>T	c.(214-216)gaG>gaT	p.E72D		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	72					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		TGGCCCAGGAGAACCCCAAGA	0.677000													8	42					3.09899e-07	3.88558e-07	0.004482	1	0
ECT2	1894	broad.mit.edu	37	3	172480522	172480522	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:172480522C>T	ENST00000417960.1	+	10	1312	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F	ECT2_ENST00000540509.1_Missense_Mutation_p.L311F|ECT2_ENST00000427830.1_Missense_Mutation_p.L280F|ECT2_ENST00000441497.2_Missense_Mutation_p.L280F|ECT2_ENST00000392692.3_Missense_Mutation_p.L311F|ECT2_ENST00000232458.5_Missense_Mutation_p.L280F	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	280	BRCT 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATGCACTCACCTTGTAGTTGA	0.348000													10	37					0	0	0.008291	0	0
ZZZ3	26009	broad.mit.edu	37	1	78098771	78098771	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:78098771G>A	ENST00000370801.3	-	5	744	c.269C>T	c.(268-270)tCt>tTt	p.S90F	ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CTTTTCTGAAGAAGAAAGTCC	0.383000													17	157					0	0	0.007413	0	0
ABCA12	26154	broad.mit.edu	37	2	215880266	215880266	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:215880266A>T	ENST00000272895.7	-	15	2123	c.1904T>A	c.(1903-1905)cTc>cAc	p.L635H	ABCA12_ENST00000389661.4_Missense_Mutation_p.L317H	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	635					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGTCCGATGAGGTAAGACTG	0.383000													5	27					0	0	0.001984	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185945	127185945	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:127185945C>A	ENST00000371124.3	-	1	437	c.241G>T	c.(241-243)Gga>Tga	p.G81*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	81						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCATCCCATCCTGTTACCAGT	0.483000													57	243					1.0442e-30	1.69218e-30	0.014410	1	0
OR5L2	26338	broad.mit.edu	37	11	55595555	55595555	+	Silent	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:55595555C>A	ENST00000378397.1	+	1	861	c.861C>A	c.(859-861)ccC>ccA	p.P287P		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGCTGAACCCCCTGATCTACA	0.443000										HNSCC(27;0.073)			10	46					1.76689e-08	2.32935e-08	0.006214	1	0
AKAP9	10142	broad.mit.edu	37	7	91671405	91671405	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:91671405G>T	ENST00000359028.2	+	20	5224	c.4999G>T	c.(4999-5001)Gtg>Ttg	p.V1667L	AKAP9_ENST00000356239.3_Missense_Mutation_p.V1655L|AKAP9_ENST00000358100.2_Missense_Mutation_p.V1667L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1667					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			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)			GAGAGAGAGGGTGCTTTTAGA	0.423000			T	BRAF	papillary thyroid								9	37					2.74318e-10	3.82552e-10	0.006214	1	0
CSMD3	114788	broad.mit.edu	37	8	113317099	113317099	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:113317099C>A	ENST00000297405.5	-	52	8361	c.8117G>T	c.(8116-8118)aGa>aTa	p.R2706I	CSMD3_ENST00000343508.3_Missense_Mutation_p.R2666I|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2636I|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2706	Sushi 16.					integral to membrane|plasma membrane				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						AATTCGCCATCTTCCATGTTC	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	28					0.00909568	0.009788	0.009096	1	0
LRCH1	23143	broad.mit.edu	37	13	47279253	47279253	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:47279253G>A	ENST00000311191.6	+	12	1680	c.1451G>A	c.(1450-1452)gGa>gAa	p.G484E	LRCH1_ENST00000389797.3_Missense_Mutation_p.G484E|LRCH1_ENST00000389798.3_Missense_Mutation_p.G484E	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	484										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TATCCTATGGGATCAGCAGAA	0.284000													8	54					0	0	0.010729	0	0
DEC1	50514	broad.mit.edu	37	9	118162697	118162697	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:118162697G>T	ENST00000374016.1	+	6	592	c.73G>T	c.(73-75)Gtg>Ttg	p.V25L		NM_017418.2	NP_059114.1	Q9P2X7	DEC1_HUMAN	deleted in esophageal cancer 1	25					negative regulation of cell proliferation					kidney(1)|large_intestine(1)|ovary(1)	3						ccttcttgccgtgttacacat	0.463000													16	75					1.15088e-07	1.47456e-07	0.004007	1	0
RFPL2	10739	broad.mit.edu	37	22	32587270	32587270	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr22:32587270C>A	ENST00000400236.3	-	5	1561	c.356G>T	c.(355-357)cGa>cTa	p.R119L	RFPL2_ENST00000248980.4_Missense_Mutation_p.R148L|RFPL2_ENST00000248983.4_Missense_Mutation_p.R119L|RFPL2_ENST00000400237.1_Missense_Mutation_p.R209L|RFPL2_ENST00000489846.1_5'UTR	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	209			A -> T (in dbSNP:rs8135276).				zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GCGCCCACTTCGGACGCTCCT	0.532000													24	94					2.21704e-12	3.17827e-12	0.016522	1	0
PLEKHA7	144100	broad.mit.edu	37	11	16847840	16847840	+	Silent	SNP	C	C	T	rs141499859		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:16847840C>T	ENST00000355661.3	-	10	1180	c.1170G>A	c.(1168-1170)cgG>cgA	p.R390R	PLEKHA7_ENST00000448080.2_Silent_p.R390R|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.R390R			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	390					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCTTCTCTGCCCGTTGGGGCT	0.597000													33	75					0	0	0.010818	0	0
FDCSP	260436	broad.mit.edu	37	4	71096932	71096932	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:71096932G>A	ENST00000317987.5	+	2	133	c.21G>A	c.(19-21)ctG>ctA	p.L7L		NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN	follicular dendritic cell secreted protein	7						extracellular region											TTCTCCTCCTGATCACAGCCA	0.348000													14	87					0	0	0.020292	0	0
RBP4	5950	broad.mit.edu	37	10	95360773	95360773	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:95360773A>G	ENST00000371467.1	-	2	332	c.13T>C	c.(13-15)Tgg>Cgg	p.W5R	RBP4_ENST00000371464.3_Missense_Mutation_p.W5R|FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371469.2_Intron			P02753	RET4_HUMAN	retinol binding protein 4, plasma	5					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	AAGAGCGCCCACACCCACTTC	0.701000													9	71					0	0	0.004482	0	0
MCTP1	79772	broad.mit.edu	37	5	94259701	94259701	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:94259701C>T	ENST00000515393.1	-	7	1237	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	MCTP1_ENST00000505208.1_Missense_Mutation_p.G192E|MCTP1_ENST00000312216.8_Missense_Mutation_p.G192E|MCTP1_ENST00000429576.2_Intron|MCTP1_ENST00000505078.1_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	413					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GAAATAAGATCCAACCACTTC	0.269000													3	25					0	0	0.004672	0	0
SLC9A4	389015	broad.mit.edu	37	2	103136343	103136343	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:103136343A>G	ENST00000295269.4	+	9	2204	c.1747A>G	c.(1747-1749)Aga>Gga	p.R583G		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	583					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGGAATCAAAAGACTTTCCCC	0.458000													10	24					0	0	0.010729	0	0
FRG2B	441581	broad.mit.edu	37	10	135438829	135438829	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:135438829C>A	ENST00000443774.1	-	4	663	c.614G>T	c.(613-615)tGt>tTt	p.C205F	FRG2B_ENST00000425520.1_Missense_Mutation_p.C204F			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	204						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CAGCTGCTCACAGGTAAGTGG	0.557000													11	74					0.000219431	0.000249908	0.020292	1	0
CDH19	28513	broad.mit.edu	37	18	64178851	64178851	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr18:64178851A>T	ENST00000262150.2	-	10	1822	c.1530T>A	c.(1528-1530)tcT>tcA	p.S510S	CDH19_ENST00000540086.1_Intron	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	510	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TGTCTTCTACAGATAGATTAA	0.308000													9	30					0	0	0.004482	0	0
POM121L12	285877	broad.mit.edu	37	7	53103954	53103954	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:53103954G>T	ENST00000408890.4	+	1	606	c.590G>T	c.(589-591)tGg>tTg	p.W197L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	197										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGCCGTTGTGGTTCGAGGTC	0.672000													15	71					0.000219431	0.000249908	0.020292	1	0
NID2	22795	broad.mit.edu	37	14	52520359	52520359	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:52520359G>A	ENST00000216286.5	-	5	1366	c.1367C>T	c.(1366-1368)aCa>aTa	p.T456I	NID2_ENST00000541773.1_Missense_Mutation_p.T403I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	456						basement membrane	calcium ion binding|collagen binding			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)					ACTTAAGGGTGTAGTGTGACC	0.498000													37	125					0	0	0.005524	0	0
MAP2	4133	broad.mit.edu	37	2	210559961	210559961	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:210559961C>T	ENST00000360351.4	+	7	3573	c.3067C>T	c.(3067-3069)Cca>Tca	p.P1023S	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.P1019S|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1023					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TAGTTCAGTGCCAGAGATAGC	0.428000													6	38					0	0	0.001168	0	0
FRK	2444	broad.mit.edu	37	6	116288845	116288845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:116288845G>A	ENST00000606080.1	-	4	1114	c.668C>T	c.(667-669)aCc>aTc	p.T223I	FRK_ENST00000538210.1_Missense_Mutation_p.T81I	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	223					negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TTGGTCCACGGTTTTATACGA	0.388000													13	53					0	0	0.016723	0	0
TCAIM	285343	broad.mit.edu	37	3	44442777	44442777	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:44442777A>G	ENST00000342649.4	+	10	1628	c.1201A>G	c.(1201-1203)Att>Gtt	p.I401V	TCAIM_ENST00000417237.1_Missense_Mutation_p.I401V	NM_173826.3	NP_776187.2			T cell activation inhibitor, mitochondrial																		CCAGTGGTTTATTCTCACCAA	0.393000													11	37					0	0	0.010729	0	0
GRM8	2918	broad.mit.edu	37	7	126173059	126173059	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:126173059T>C	ENST00000339582.2	-	9	3185	c.2377A>G	c.(2377-2379)Att>Gtt	p.I793V	GRM8_ENST00000358373.3_Missense_Mutation_p.I793V|GRM8_ENST00000444921.2_Missense_Mutation_p.I793V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	793					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCTAACCAAATGATGCAGGTG	0.398000										HNSCC(24;0.065)			6	34					0	0	0.001168	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283933	151283933	+	RNA	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:151283933C>A	ENST00000509345.2	-	0	403																		p.G27V(1)									AGCCTGCACACCCACCAGGCC	0.627000													20	115					3.51602e-12	5.00544e-12	0.008871	1	0
SYNE1	23345	broad.mit.edu	37	6	152674536	152674536	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:152674536C>T	ENST00000367255.5	-	69	11716	c.11115G>A	c.(11113-11115)caG>caA	p.Q3705Q	SYNE1_ENST00000448038.1_Silent_p.Q3690Q|SYNE1_ENST00000423061.1_Silent_p.Q3690Q|SYNE1_ENST00000265368.4_Silent_p.Q3705Q|SYNE1_ENST00000341594.5_Silent_p.Q3676Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3705					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)		CCTCCAAACTCTGAATCTCCT	0.388000										HNSCC(10;0.0054)			9	44					0	0	0.006214	0	0
PPP4R4	57718	broad.mit.edu	37	14	94640869	94640869	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:94640869G>A	ENST00000304338.3	+	1	221	c.67G>A	c.(67-69)Gac>Aac	p.D23N	PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Missense_Mutation_p.D23N	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	23						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTACATGGAGGACCTGCAGGA	0.721000													19	36					0	0	0.016522	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90121952	90121952	+	RNA	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:90121952G>T	ENST00000483379.1	+	0	351																											TATTTAGCCTGGTTTCAGCAG	0.522000													39	378					6.29468e-14	9.31704e-14	0.021022	1	0
SRPK3	26576	broad.mit.edu	37	X	153046726	153046726	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:153046726C>A	ENST00000489426.1	+	8	2682	c.316C>A	c.(316-318)Ccg>Acg	p.P106T	SRPK3_ENST00000370101.3_Missense_Mutation_p.P39T|SRPK3_ENST00000393786.3_Missense_Mutation_p.P39T|SRPK3_ENST00000370108.3_Missense_Mutation_p.P39T|SRPK3_ENST00000370104.1_Missense_Mutation_p.P39T|SRPK3_ENST00000370100.1_Intron			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	39	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGCCACACCGGTGCCTCA	0.662000													9	44					0.000274275	0.000311504	0.004482	1	0
STARD8	9754	broad.mit.edu	37	X	67942409	67942409	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:67942409T>C	ENST00000252336.6	+	11	2852	c.2480T>C	c.(2479-2481)cTg>cCg	p.L827P	STARD8_ENST00000374597.3_Missense_Mutation_p.L827P|STARD8_ENST00000374599.3_Missense_Mutation_p.L907P	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	827	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ATCCAGGACCTGCTGCGTGAT	0.647000													9	39					0	0	0.006214	0	0
LRRK2	120892	broad.mit.edu	37	12	40668693	40668693	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:40668693G>T	ENST00000298910.7	+	16	1897	c.1839G>T	c.(1837-1839)ttG>ttT	p.L613F	LRRK2_ENST00000343742.2_Missense_Mutation_p.L613F	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	613					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAGGATACTTGATTACAAAGA	0.308000													4	42					2.56e-06	3.08706e-06	0.009096	1	0
MED12	9968	broad.mit.edu	37	X	70338650	70338650	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:70338650C>G	ENST00000333646.6	+	1	245	c.46C>G	c.(46-48)Cgg>Ggg	p.R16G	MED12_ENST00000374080.3_Missense_Mutation_p.R16G|MED12_ENST00000374102.1_Missense_Mutation_p.R16G	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	16				R -> RPR (in Ref. 1; AAD22033).	androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCCCCTGAAGCGGCCGCGGCT	0.682000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						4	26					0	0	0.009096	0	0
OR56A3	390083	broad.mit.edu	37	11	5968817	5968817	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:5968817G>T	ENST00000329564.6	+	1	248	c.241G>T	c.(241-243)Gtc>Ttc	p.V81F		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCCTCACTGTCATCCCCAA	0.567000													37	135					1.60099e-16	2.44927e-16	0.021022	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140346697	140346697	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:140346697C>G	ENST00000289269.5	+	1	878	c.346C>G	c.(346-348)Cgc>Ggc	p.R116G	PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		116	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCGGCCTCGCTGCCTGCT	0.637000													13	37					0	0	0.003163	0	0
FLT1	2321	broad.mit.edu	37	13	29007977	29007977	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:29007977C>T	ENST00000282397.4	-	6	1043	c.792G>A	c.(790-792)atG>atA	p.M264I	FLT1_ENST00000541932.1_Missense_Mutation_p.M264I|FLT1_ENST00000539099.1_Missense_Mutation_p.M264I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	264	Ig-like C2-type 3.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AACTCCAGGTCATTTGAACTC	0.443000													10	43					0	0	0.006214	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	C	T	rs367060		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085																											CTCAGCCTTCCGCCGGGCCAG	0.672000													4	30					0	0	0.009096	0	0
AMPH	273	broad.mit.edu	37	7	38530673	38530673	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:38530673G>T	ENST00000356264.2	-	5	588	c.373C>A	c.(373-375)Ctg>Atg	p.L125M	AMPH_ENST00000428293.2_Missense_Mutation_p.L125M|AMPH_ENST00000325590.5_Missense_Mutation_p.L125M	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	125	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AATTGCCCCAGGTAGGTATCC	0.413000													33	155					3.76114e-14	5.58719e-14	0.019004	1	0
UBE2NL	389898	broad.mit.edu	37	X	142967601	142967601	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:142967601C>A	ENST00000370494.1	+	1	429	c.399C>A	c.(397-399)aaC>aaA	p.N133K		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	133							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGACCAACGAAGCCCAAG	0.438000													9	101					4.68919e-08	6.08407e-08	0.008291	1	0
CACNA1S	779	broad.mit.edu	37	1	201047133	201047133	+	Missense_Mutation	SNP	C	C	A	rs150590855	byFrequency	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:201047133C>A	ENST00000362061.3	-	11	1719	c.1493G>T	c.(1492-1494)cGc>cTc	p.R498L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R498L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	498					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCAGTCGAAGCGGTTGAAGAT	0.592000													39	74					5.44703e-19	8.4594e-19	0.009718	1	0
ATRX	546	broad.mit.edu	37	X	76944409	76944409	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:76944409G>T	ENST00000373344.5	-	7	710	c.496C>A	c.(496-498)Cat>Aat	p.H166N	ATRX_ENST00000395603.3_Missense_Mutation_p.H128N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	166	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.H166fs*4(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACAATCCCATGAAGCCCATCT	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						12	98					1.5842e-08	2.10201e-08	0.016723	1	0
ANK1	286	broad.mit.edu	37	8	41552254	41552254	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:41552254C>T	ENST00000396942.1	-	28	3266	c.3183G>A	c.(3181-3183)ctG>ctA	p.L1061L	ANK1_ENST00000265709.8_Silent_p.L1102L|ANK1_ENST00000352337.4_Silent_p.L1061L|ANK1_ENST00000379758.2_Silent_p.L1061L|ANK1_ENST00000289734.7_Silent_p.L1061L|ANK1_ENST00000347528.4_Silent_p.L1061L|ANK1_ENST00000396945.1_Silent_p.L1061L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1061					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCACGAAGTACAGCGGGAAGT	0.607000													8	31					0	0	0.003080	0	0
MYH8	4626	broad.mit.edu	37	17	10305003	10305003	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:10305003C>G	ENST00000403437.2	-	23	2882	c.2788G>C	c.(2788-2790)Gag>Cag	p.E930Q	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	930					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			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						TCCTCCTCCTCAGCTCTTTCA	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				38	273					0	0	0.006230	0	0
CELSR1	9620	broad.mit.edu	37	22	46790128	46790128	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr22:46790128C>A	ENST00000262738.3	-	14	5874	c.5875G>T	c.(5875-5877)Ggg>Tgg	p.G1959W		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1959	EGF-like 7; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGGGGTTCCCCCACCAGCCT	0.572000													12	35					7.03913e-09	9.46243e-09	0.013537	1	0
DUSP22	56940	broad.mit.edu	37	6	348139	348139	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:348139C>T	ENST00000419235.2	+	6	378	c.300C>T	c.(298-300)atC>atT	p.I100I	DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000344450.5_Silent_p.I100I|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	100	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I100M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CACTGGTGATCGCATACATCA	0.607000													6	238					0	0	0.001984	0	0
FANCM	57697	broad.mit.edu	37	14	45644719	45644719	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:45644719G>T	ENST00000267430.5	+	14	2847	c.2762G>T	c.(2761-2763)tGt>tTt	p.C921F	FANCM_ENST00000542564.2_Missense_Mutation_p.C895F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	921					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAAGAACCGTGTGTGTTATTA	0.303000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	86					2.80697e-09	3.8362e-09	0.010729	1	0
RNF41	10193	broad.mit.edu	37	12	56600268	56600268	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:56600268A>C	ENST00000345093.4	-	7	1286	c.917T>G	c.(916-918)cTt>cGt	p.L306R	RNF41_ENST00000552656.1_Missense_Mutation_p.L306R|RNF41_ENST00000394013.2_Missense_Mutation_p.L235R	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41	306					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TATCATGACAAGGCCTGGCTC	0.527000											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	178					0	0	0.014410	0	0
DRP2	1821	broad.mit.edu	37	X	100510189	100510189	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:100510189A>T	ENST00000395209.3	+	20	2724	c.2197A>T	c.(2197-2199)Agt>Tgt	p.S733C	DRP2_ENST00000541709.1_Missense_Mutation_p.S655C|DRP2_ENST00000538510.1_Missense_Mutation_p.S733C|DRP2_ENST00000402866.1_Missense_Mutation_p.S733C	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	733					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGAGATGGAAAGTCAAAATTG	0.453000													19	111					0	0	0.008871	0	0
MOSPD1	56180	broad.mit.edu	37	X	134033180	134033180	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:134033180G>T	ENST00000370783.3	-	3	356	c.170C>A	c.(169-171)cCa>cAa	p.P57Q	MOSPD1_ENST00000370777.1_Missense_Mutation_p.P57Q|MOSPD1_ENST00000370779.4_Missense_Mutation_p.P57Q|MOSPD1_ENST00000491609.1_Intron	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	57	MSP.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					ATACTTATTTGGAGTAGTACA	0.343000													30	119					3.65163e-15	5.48413e-15	0.006320	1	0
CDR1	1038	broad.mit.edu	37	X	139866430	139866430	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:139866430C>T	ENST00000370532.2	-	1	293	c.102G>A	c.(100-102)ttG>ttA	p.L34L		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	34	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TTGTGTCTTCCAACAAAGGTA	0.453000													33	207					0	0	0.013726	0	0
NRG3	10718	broad.mit.edu	37	10	84745309	84745309	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:84745309C>T	ENST00000372142.2	+	11	1722	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	NRG3_ENST00000404547.1_Missense_Mutation_p.A704V|NRG3_ENST00000404576.2_Missense_Mutation_p.A484V|NRG3_ENST00000372141.2_Missense_Mutation_p.A680V|NRG3_ENST00000556918.1_Missense_Mutation_p.A510V|NRG3_ENST00000537893.1_Missense_Mutation_p.A330V|NRG3_ENST00000545131.1_Missense_Mutation_p.A330V	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	704					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GAACGAGAGGCGCAATTTGTC	0.463000													5	36					0	0	0.001168	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187702117	187702117	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:187702117G>T	ENST00000295131.2	-	5	698	c.659C>A	c.(658-660)gCa>gAa	p.A220E		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	220					apoptosis		zinc ion binding			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)			TTTTTCTGCTGCAGCTACTAG	0.393000													25	58					5.45024e-15	8.12581e-15	0.018920	1	0
MGAM	8972	broad.mit.edu	37	7	141765147	141765147	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:141765147G>T	ENST00000475668.2	+	38	4551	c.4497G>T	c.(4495-4497)gaG>gaT	p.E1499D	MGAM_ENST00000549489.2_Missense_Mutation_p.E1499D			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1499	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCGTGCAGGAGGTGACGGGAC	0.612000													9	14					0.00010058	0.000115512	0.013537	1	0
AGTR2	186	broad.mit.edu	37	X	115303582	115303582	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:115303582G>T	ENST00000371906.4	+	3	239	c.49G>T	c.(49-51)Ggt>Tgt	p.G17C		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	17					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						CATTACCAGCGGTCTTCACTT	0.423000													19	60					2.94398e-08	3.85634e-08	0.007413	1	0
THSD7A	221981	broad.mit.edu	37	7	11514030	11514030	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:11514030C>A	ENST00000423059.3	-	8	2434	c.2183G>T	c.(2182-2184)tGc>tTc	p.C728F	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	728	TSP type-1 7.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCCGACAGAGCAGGAGGCCTC	0.507000										HNSCC(18;0.044)			13	57					7.03913e-09	9.46243e-09	0.013537	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803441	185803441	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:185803441C>T	ENST00000302277.6	+	4	3912	c.3318C>T	c.(3316-3318)caC>caT	p.H1106H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1106						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						tgcagcagcacgctgcagctg	0.547000													14	93					0	0	0.020292	0	0
LHX9	56956	broad.mit.edu	37	1	197898131	197898131	+	Splice_Site	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:197898131G>C	ENST00000367390.3	+	6	936		c.e6-1		LHX9_ENST00000367391.1_Intron|LHX9_ENST00000561173.1_Intron|LHX9_ENST00000367387.4_Splice_Site|LHX9_ENST00000337020.2_Intron	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9						motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TTGGTTTGCAGGTTTGGTTCC	0.413000													20	22					0	0	0.010504	0	0
GPR112	139378	broad.mit.edu	37	X	135426794	135426794	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:135426794C>A	ENST00000394143.1	+	6	1220	c.929C>A	c.(928-930)aCa>aAa	p.T310K	GPR112_ENST00000370652.1_Missense_Mutation_p.T310K|GPR112_ENST00000287534.4_Missense_Mutation_p.T247K|GPR112_ENST00000412101.1_Missense_Mutation_p.T105K|GPR112_ENST00000394141.1_Missense_Mutation_p.T105K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	310					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTAGATGAGACAGCTACATTT	0.378000													11	67					4.36969e-10	6.03223e-10	0.016723	1	0
AKAP4	8852	broad.mit.edu	37	X	49961630	49961630	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:49961630G>C	ENST00000376056.2	-	4	311	c.161C>G	c.(160-162)tCc>tGc	p.S54C	AKAP4_ENST00000358526.2_Missense_Mutation_p.S63C|AKAP4_ENST00000376064.3_Missense_Mutation_p.S54C|AKAP4_ENST00000376058.2_Missense_Mutation_p.S54C|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	63					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTCTGAGCTGGAACTAGCAGC	0.418000													15	63					0	0	0.004007	0	0
UBBP4	23666	broad.mit.edu	37	17	21730888	21730888	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:21730888G>A	ENST00000584755.1	+	2	587	c.190G>A	c.(190-192)Gag>Aag	p.E64K	UBBP4_ENST00000578713.1_Missense_Mutation_p.E64K|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CATCCAGAAAGAGTCGACCCT	0.552000													11	38					0	0	0.010729	0	0
TAF1	6872	broad.mit.edu	37	X	70614023	70614023	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:70614023A>G	ENST00000449580.1	+	22	3382	c.3331A>G	c.(3331-3333)Aag>Gag	p.K1111E	TAF1_ENST00000373790.4_Missense_Mutation_p.K1111E|TAF1_ENST00000276072.3_Missense_Mutation_p.K1132E|TAF1_ENST00000423759.1_Missense_Mutation_p.K1132E			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1111					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTTGCAGAACAAGAAAACCAG	0.458000													13	51					0	0	0.020292	0	0
PRKCG	5582	broad.mit.edu	37	19	54403990	54403990	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:54403990A>G	ENST00000263431.3	+	14	1844	c.1562A>G	c.(1561-1563)tAc>tGc	p.Y521C	PRKCG_ENST00000540413.1_Missense_Mutation_p.Y521C|PRKCG_ENST00000542049.1_Missense_Mutation_p.Y408C	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	521	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACCCCGGACTACATAGCCCCG	0.577000													68	265					0	0	0.014410	0	0
MKI67	4288	broad.mit.edu	37	10	129903439	129903439	+	Missense_Mutation	SNP	C	C	A	rs148951938		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:129903439C>A	ENST00000368654.3	-	13	7040	c.6665G>T	c.(6664-6666)aGa>aTa	p.R2222I	MKI67_ENST00000368653.3_Missense_Mutation_p.R1862I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2222	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTGTGGAGATCTGCAGGCTAT	0.493000													46	251					1.06522e-23	1.69938e-23	0.013114	1	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26236079	26236079	+	Silent	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:26236079T>G	ENST00000354667.4	-	7	804	c.636A>C	c.(634-636)tcA>tcC	p.S212S	HNRNPA2B1_ENST00000356674.7_Silent_p.S200S	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	212	Gly-rich.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CGCCACCACGTGAATCCCCAA	0.408000			T	ETV1	prostate								18	66					0	0	0.007413	0	0
TEX13B	56156	broad.mit.edu	37	X	107224687	107224687	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:107224687C>G	ENST00000302917.1	-	3	654	c.562G>C	c.(562-564)Gcg>Ccg	p.A188P		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	188										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GCAGCCACCGCCTCCTTTTCC	0.652000													47	284					0	0	0.014410	0	0
SCN7A	6332	broad.mit.edu	37	2	167279890	167279890	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:167279890T>G	ENST00000409855.1	-	18	3032	c.2906A>C	c.(2905-2907)gAa>gCa	p.E969A		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	969					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GTCAGCATATTCTAATAAAAT	0.308000													6	22					0	0	0.001168	0	0
RBM4	5936	broad.mit.edu	37	11	66411238	66411238	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:66411238T>C	ENST00000409406.1	+	2	1507	c.730T>C	c.(730-732)Tac>Cac	p.Y244H	RBM4_ENST00000503028.2_Missense_Mutation_p.Y244H|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000514361.3_Missense_Mutation_p.Y219H|RBM4_ENST00000408993.2_Missense_Mutation_p.Y244H|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000530235.1_Intron|RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.Y219H|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000310092.7_Missense_Mutation_p.Y244H					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CGTGTATAATTACGCAGAGCA	0.577000													19	74					0	0	0.007413	0	0
DACT1	51339	broad.mit.edu	37	14	59112196	59112196	+	Silent	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:59112196T>C	ENST00000395153.3	+	4	891	c.744T>C	c.(742-744)ctT>ctC	p.L248L	DACT1_ENST00000541264.2_Silent_p.L4L|DACT1_ENST00000556859.1_Silent_p.L4L|DACT1_ENST00000395151.3_Silent_p.L4L|DACT1_ENST00000335867.4_Silent_p.L285L	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	285					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TGTTTCTCCTTTGTCTGACGG	0.502000													13	67					0	0	0.013537	0	0
CDC27	996	broad.mit.edu	37	17	45219297	45219297	+	Silent	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:45219297T>G	ENST00000066544.3	-	12	1566	c.1473A>C	c.(1471-1473)ctA>ctC	p.L491L	CDC27_ENST00000531206.1_Silent_p.L497L|CDC27_ENST00000527547.1_Silent_p.L490L|CDC27_ENST00000446365.2_Silent_p.L430L	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	491					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GGTGAGAAGGTAGATGGCTCA	0.378000													4	158					0	0	0.004482	0	0
OR8I2	120586	broad.mit.edu	37	11	55860982	55860982	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:55860982G>T	ENST00000302124.2	+	1	230	c.199G>T	c.(199-201)Gca>Tca	p.A67S	OR8I2_ENST00000560768.1_Missense_Mutation_p.A67S			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GAGCAATTTAGCATTTATTGA	0.393000													27	136					2.65835e-16	4.05175e-16	0.007291	1	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159606694	159606694	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:159606694T>A	ENST00000337808.6	+	6	1857	c.1280T>A	c.(1279-1281)cTa>cAa	p.L427Q	IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.L476Q|IQCJ-SCHIP1_ENST00000460298.1_Missense_Mutation_p.L387Q|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.L414Q|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.L195Q|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.L503Q|SCHIP1_ENST00000482804.1_Missense_Mutation_p.L200Q|SCHIP1_ENST00000445224.2_Missense_Mutation_p.L184Q	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		427						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						ATTGGGCAGCTACAAGTGATA	0.383000													6	54					0	0	0.001168	0	0
GRIN3A	116443	broad.mit.edu	37	9	104448969	104448969	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:104448969T>C	ENST00000361820.3	-	2	1813	c.1213A>G	c.(1213-1215)Atg>Gtg	p.M405V		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	405					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGTTGGATCATGGTGGCTGTG	0.468000													25	27					0	0	0.016522	0	0
SPATA19	219938	broad.mit.edu	37	11	133715038	133715038	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:133715038C>A	ENST00000299140.3	-	2	180	c.126G>T	c.(124-126)tgG>tgT	p.W42C	SPATA19_ENST00000532889.1_Missense_Mutation_p.W42C	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	42					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CTTTTTTCAACCAATGATGTA	0.423000													6	36					3.59834e-05	4.22727e-05	0.001168	1	0
NCOA2	10499	broad.mit.edu	37	8	71037031	71037031	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:71037031C>A	ENST00000452400.2	-	20	4167	c.3986G>T	c.(3985-3987)cGa>cTa	p.R1329L	NCOA2_ENST00000267974.4_Missense_Mutation_p.R417L	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1329					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ATGTGCCATTCGGGGTGACAT	0.512000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								48	75					1.51926e-22	2.41432e-22	0.014410	1	0
UGGT1	56886	broad.mit.edu	37	2	128937402	128937402	+	Silent	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:128937402G>C	ENST00000375990.3	+	35	4189	c.3786G>C	c.(3784-3786)gtG>gtC	p.V1262V	UGGT1_ENST00000259253.6_Silent_p.V1286V			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1286	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGACTCCTGTGAAATTCTGGT	0.343000													11	53					0	0	0.010729	0	0
LPHN1	22859	broad.mit.edu	37	19	14262129	14262129	+	Silent	SNP	A	A	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:14262129A>C	ENST00000340736.6	-	24	4278	c.3981T>G	c.(3979-3981)ggT>ggG	p.G1327G	CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.G1322G	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1327					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCGGTCAGCACCCCCGGGCC	0.716000													6	11					0	0	0.004482	0	0
IQUB	154865	broad.mit.edu	37	7	123097469	123097469	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:123097469G>A	ENST00000466202.1	-	12	2735	c.2159C>T	c.(2158-2160)gCa>gTa	p.A720V	IQUB_ENST00000324698.6_Missense_Mutation_p.A720V|RP11-332K15.1_ENST00000419832.1_RNA			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	720										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATGAGCAGCTGCTTCATCTTT	0.403000													8	86					0	0	0.004482	0	0
RABGGTA	5875	broad.mit.edu	37	14	24736904	24736904	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:24736904C>T	ENST00000399409.3	-	13	1798	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	RABGGTA_ENST00000216840.6_Missense_Mutation_p.E439K|RABGGTA_ENST00000560777.1_Missense_Mutation_p.E48K	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	439					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		TCGGCATACTCCATCTTGAGC	0.622000													8	35					0	0	0.003080	0	0
LRRC37A16P	651250	broad.mit.edu	37	17	66131620	66131620	+	RNA	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:66131620G>A	ENST00000590019.1	-	0	298																											CCGCCTTGCTGATGACATCCA	0.567000													18	37					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179423146	179423146	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:179423146G>T	ENST00000589042.1	-	327	87264	c.87040C>A	c.(87040-87042)Cga>Aga	p.R29014R	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.R19949R|TTN-AS1_ENST00000592750.1_RNA|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_Silent_p.R27373R|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.R20074R|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.R20141R|TTN_ENST00000342992.6_Silent_p.R26446R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27373	Fibronectin type-III 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAACACTCGGAAAAAGTAT	0.423000													10	32					2.74318e-10	3.82552e-10	0.006214	1	0
KMT2D	8085	broad.mit.edu	37	12	49424105	49424105	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:49424105T>A	ENST00000301067.7	-	42	13956	c.13957A>T	c.(13957-13959)Aag>Tag	p.K4653*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCAGCATCCTTGGGGTGCTCC	0.622000													5	10					0	0	0.001168	0	0
RUNX3	864	broad.mit.edu	37	1	25228965	25228965	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:25228965G>T	ENST00000399916.1	-	6	1376	c.938C>A	c.(937-939)gCc>gAc	p.A313D	RUNX3_ENST00000308873.6_Missense_Mutation_p.A299D|RUNX3_ENST00000540420.1_Missense_Mutation_p.A206D|RUNX3_ENST00000338888.3_Missense_Mutation_p.A313D	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	299	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GCGGCTGGTGGCCGGCATGCC	0.701000													12	58					5.50884e-06	6.60416e-06	0.013537	1	0
USP51	158880	broad.mit.edu	37	X	55513447	55513447	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:55513447A>T	ENST00000500968.3	-	2	2008	c.1926T>A	c.(1924-1926)tgT>tgA	p.C642*	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	642					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CATTGGGCACACAATCTGTTG	0.443000													3	32					0	0	0.009096	0	0
DPPA2	151871	broad.mit.edu	37	3	109031510	109031510	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:109031510C>T	ENST00000478945.1	-	3	309	c.63G>A	c.(61-63)gaG>gaA	p.E21E		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	21						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCACACTTTCCTCATCATCTA	0.408000													15	79					0	0	0.003163	0	0
ATAD2	29028	broad.mit.edu	37	8	124349867	124349867	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:124349867C>T	ENST00000287394.5	-	21	3156	c.3049G>A	c.(3049-3051)Gag>Aag	p.E1017K	ATAD2_ENST00000521903.1_Missense_Mutation_p.E335K	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1017	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ACTAATACCTCATCAGGGTCA	0.363000													8	40					0	0	0.006214	0	0
SYNE1	23345	broad.mit.edu	37	6	152655143	152655143	+	Splice_Site	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:152655143C>G	ENST00000367255.5	-	77	13395	c.12794_splice	c.e77+1	p.R4265_splice	SYNE1_ENST00000448038.1_Splice_Site_p.R4194_splice|SYNE1_ENST00000423061.1_Splice_Site_p.R4194_splice|SYNE1_ENST00000265368.4_Splice_Site_p.R4265_splice|SYNE1_ENST00000341594.5_Splice_Site_p.R4130_splice	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4265					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)		TTTCTGTTACCTGGCCAAGTT	0.393000										HNSCC(10;0.0054)			16	82					0	0	0.004007	0	0
ZEB2	9839	broad.mit.edu	37	2	145156366	145156366	+	Silent	SNP	G	G	T	rs111359671		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:145156366G>T	ENST00000558170.2	-	8	3572	c.2388C>A	c.(2386-2388)tcC>tcA	p.S796S	ZEB2_ENST00000303660.4_Silent_p.S796S|ZEB2_ENST00000409487.3_Silent_p.S796S|ZEB2_ENST00000539609.3_Silent_p.S772S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	796						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			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)		AACTACTGTGGGAGTTTTTAG	0.398000													21	137					1.2644e-06	1.54748e-06	0.010504	1	0
HMHA1	23526	broad.mit.edu	37	19	1080953	1080953	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:1080953G>A	ENST00000313093.2	+	17	2311	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K	HMHA1_ENST00000539243.2_Missense_Mutation_p.E710K|HMHA1_ENST00000543365.1_Missense_Mutation_p.E577K|HMHA1_ENST00000586866.1_Missense_Mutation_p.E698K|HMHA1_ENST00000590577.1_Missense_Mutation_p.E329K|HMHA1_ENST00000590214.1_Missense_Mutation_p.E721K|HMHA1_ENST00000536472.1_Missense_Mutation_p.E562K	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	694					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		GTTCCGCCACGAGGGGCTGTC	0.692000													3	20					0	0	0.009096	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62887094	62887094	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:62887094G>T	ENST00000281156.4	-	2	493	c.215C>A	c.(214-216)cCa>cAa	p.P72Q		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	72	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TAGTACCTTTGGATACTGCTT	0.289000													5	26					0.00116845	0.00129127	0.001168	1	0
FBXO40	51725	broad.mit.edu	37	3	121345686	121345686	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:121345686C>A	ENST00000338040.4	+	4	2473	c.2059C>A	c.(2059-2061)Ccc>Acc	p.P687T		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	687					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.P687A(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CATGTGTCAGCCCCGTGAGCA	0.483000													25	91					3.08376e-08	4.02657e-08	0.018920	1	0
RELN	5649	broad.mit.edu	37	7	103179743	103179743	+	Missense_Mutation	SNP	G	G	T	rs116065504	by1000genomes	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:103179743G>T	ENST00000424685.2	-	45	7121	c.6962C>A	c.(6961-6963)aCg>aAg	p.T2321K	RELN_ENST00000343529.5_Missense_Mutation_p.T2321K|RELN_ENST00000428762.1_Missense_Mutation_p.T2321K			P78509	RELN_HUMAN	reelin	2321					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCCAAGACCGTATTACCAGA	0.393000													7	29					0.00198382	0.0021806	0.001984	1	0
SHROOM4	57477	broad.mit.edu	37	X	50376870	50376870	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:50376870G>C	ENST00000376020.2	-	4	2228	c.2203C>G	c.(2203-2205)Cag>Gag	p.Q735E	SHROOM4_ENST00000289292.7_Missense_Mutation_p.Q735E|SHROOM4_ENST00000460112.3_Missense_Mutation_p.Q619E	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	735					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.Q735*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ACAAGTGGCTGTGAATTATGC	0.542000													14	54					0	0	0.016723	0	0
ZNF615	284370	broad.mit.edu	37	19	52496489	52496489	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:52496489G>T	ENST00000602063.1	-	6	2189	c.1840C>A	c.(1840-1842)Cat>Aat	p.H614N	ZNF615_ENST00000598071.1_Missense_Mutation_p.H625N|ZNF615_ENST00000594083.1_Missense_Mutation_p.H625N|ZNF615_ENST00000391795.3_Missense_Mutation_p.H619N|ZNF615_ENST00000376716.5_Missense_Mutation_p.H614N			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GTTTGCTGATGTATACTGAGA	0.413000													13	92					1.5842e-08	2.10201e-08	0.016723	1	0
GRID1	2894	broad.mit.edu	37	10	87487719	87487719	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:87487719T>G	ENST00000327946.7	-	10	1511	c.1426A>C	c.(1426-1428)Aag>Cag	p.K476Q	GRID1_ENST00000536331.1_Missense_Mutation_p.K47Q	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	476						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCCAGAGCCTTGGCCAGTGCA	0.532000										Multiple Myeloma(13;0.14)			21	148					0	0	0.014323	0	0
CKAP2	26586	broad.mit.edu	37	13	53036054	53036054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:53036054G>T	ENST00000378037.5	+	4	1186	c.1096G>T	c.(1096-1098)Gag>Tag	p.E366*	CKAP2_ENST00000258607.5_Nonsense_Mutation_p.E365*|CKAP2_ENST00000490903.1_Nonsense_Mutation_p.E317*|CKAP2_ENST00000378034.3_Nonsense_Mutation_p.E365*	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	366					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AACCTCGGAAGAGAGAAAGTA	0.343000													11	19					6.40141e-05	7.39318e-05	0.010729	1	0
RPGRIP1	57096	broad.mit.edu	37	14	21771560	21771560	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:21771560A>T	ENST00000206660.6	+	5	658	c.658A>T	c.(658-660)Atg>Ttg	p.M220L	RPGRIP1_ENST00000557771.1_Intron|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.M220L			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	220					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGGTCTATGCATGCCTAACAG	0.403000													13	31					0	0	0.020292	0	0
EFEMP2	30008	broad.mit.edu	37	11	65634509	65634509	+	Silent	SNP	C	C	A	rs148302546	byFrequency	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:65634509C>A	ENST00000307998.6	-	11	1442	c.1212G>T	c.(1210-1212)ccG>ccT	p.P404P	EFEMP2_ENST00000528176.1_Intron|MUS81_ENST00000525006.1_Intron|EFEMP2_ENST00000532648.1_5'UTR	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	404					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GGCCCGTCACCGGCCGGGCGA	0.612000													17	62					1.15919e-05	1.37758e-05	0.008871	1	0
CHEK2P2	646096	broad.mit.edu	37	15	20496628	20496628	+	RNA	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:20496628G>C	ENST00000555186.1	+	0	681					NR_038836.1																						CCTCATGAAGGGGAAGCCGAG	0.438000													4	53					0	0	0.009096	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22785437	22785437	+	RNA	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:22785437G>T	ENST00000600260.1	+	0	1526					NR_033899.1																						AGGAAAAGGTGGACCTGAAAG	0.597000													7	71					0.000157383	0.000180243	0.003080	1	0
STAG2	10735	broad.mit.edu	37	X	123181323	123181323	+	Silent	SNP	A	A	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:123181323A>C	ENST00000371160.1	+	9	1077	c.787A>C	c.(787-789)Agg>Cgg	p.R263R	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Silent_p.R263R|STAG2_ENST00000218089.9_Silent_p.R263R|STAG2_ENST00000371145.3_Silent_p.R263R|STAG2_ENST00000371157.3_Silent_p.R263R|STAG2_ENST00000354548.5_Silent_p.R194R			Q8N3U4	STAG2_HUMAN	stromal antigen 2	263					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AGCCAATGAGAGGCTAGAACT	0.348000													10	55					0	0	0.010729	0	0
SNX12	29934	broad.mit.edu	37	X	70282792	70282792	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:70282792A>T	ENST00000374274.3	-	2	289	c.173T>A	c.(172-174)cTa>cAa	p.L58Q	SNX12_ENST00000276105.3_Missense_Mutation_p.L54Q|SNX12_ENST00000465030.1_5'UTR	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	58	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					GAAGATAGGTAGGTTTGTCTA	0.453000													5	21					0	0	0.014758	0	0
CSMD3	114788	broad.mit.edu	37	8	113364743	113364743	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:113364743G>T	ENST00000297405.5	-	39	6401	c.6157C>A	c.(6157-6159)Cct>Act	p.P2053T	CSMD3_ENST00000343508.3_Missense_Mutation_p.P2013T|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1983T|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1949T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2053	Sushi 11.					integral to membrane|plasma membrane		p.P2053S(1)|p.P2013S(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						TGTGGTTCAGGACAGGAATCC	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	68					1.3612e-06	1.65606e-06	0.003163	1	0
HEPH	9843	broad.mit.edu	37	X	65486459	65486459	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:65486459G>T	ENST00000519389.1	+	21	3763	c.3584G>T	c.(3583-3585)cGc>cTc	p.R1195L	HEPH_ENST00000441993.2_Missense_Mutation_p.R1143L|HEPH_ENST00000374727.3_Missense_Mutation_p.R1144L|HEPH_ENST00000343002.2_Missense_Mutation_p.R1141L|HEPH_ENST00000336279.5_Missense_Mutation_p.R874L|HEPH_ENST00000419594.1_Missense_Mutation_p.R952L			Q9BQS7	HEPH_HUMAN	hephaestin	1141					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AAGCTACGACGCAATAGGAGG	0.493000													16	46					4.14922e-12	5.88643e-12	0.004007	1	0
EPHA3	2042	broad.mit.edu	37	3	89480488	89480488	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:89480488A>T	ENST00000336596.2	+	13	2550	c.2325A>T	c.(2323-2325)ccA>ccT	p.P775P	EPHA3_ENST00000494014.1_Silent_p.P775P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	775	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			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)		AGGATGACCCAGAAGCTGCTT	0.393000										TSP Lung(6;0.00050)			7	37					0	0	0.003080	0	0
CFL1	1072	broad.mit.edu	37	11	65623195	65623195	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:65623195G>T	ENST00000525451.2	-	4	1033	c.318C>A	c.(316-318)ccC>ccA	p.P106P	CFL1_ENST00000524553.1_Silent_p.P89P|CFL1_ENST00000308162.5_Silent_p.P106P|CFL1_ENST00000531407.1_Silent_p.P89P|CFL1_ENST00000531413.1_Silent_p.P89P|CFL1_ENST00000527344.1_Silent_p.P89P|CFL1_ENST00000534769.1_Silent_p.P144P			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	106	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		GCGCAGACTCGGGGGCCCTGG	0.547000													6	33					0.00198382	0.0021806	0.001984	1	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													3	23					0	0	0.014758	0	0
CRX	1406	broad.mit.edu	37	19	48337742	48337742	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:48337742C>T	ENST00000221996.7	+	2	248	c.42C>T	c.(40-42)aaC>aaT	p.N14N	CRX_ENST00000539067.1_Silent_p.N14N|TPRX2P_ENST00000535362.1_Silent_p.N14N	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	14					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		ATTCTGTCAACGCCTTGGCCC	0.587000													16	50					0	0	0.004007	0	0
CSNK2A1	1457	broad.mit.edu	37	20	476380	476380	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr20:476380C>G	ENST00000217244.3	-	8	868	c.493G>C	c.(493-495)Gat>Cat	p.D165H	CSNK2A1_ENST00000349736.5_Missense_Mutation_p.D165H|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.D165H|CSNK2A1_ENST00000400217.1_Missense_Mutation_p.D29H|CSNK2A1_ENST00000460062.1_5'UTR	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	165	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TGCTCATGATCAATCATGACA	0.428000													11	72					0	0	0.013537	0	0
BAI3	577	broad.mit.edu	37	6	69349246	69349246	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:69349246G>T	ENST00000370598.1	+	3	1500	c.679G>T	c.(679-681)Gag>Tag	p.E227*		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	227					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGAGCAGACAGAGGGCTGCCT	0.532000													6	36					0.00116845	0.00129127	0.001168	1	0
FBN3	84467	broad.mit.edu	37	19	8196594	8196594	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:8196594C>G	ENST00000600128.1	-	15	2248	c.1834G>C	c.(1834-1836)Gtg>Ctg	p.V612L	FBN3_ENST00000601739.1_Missense_Mutation_p.V612L|FBN3_ENST00000270509.2_Missense_Mutation_p.V612L			Q75N90	FBN3_HUMAN	fibrillin 3	612	EGF-like 7; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGGGTGTCCACGCACACGCGG	0.687000													3	46					0	0	0.004672	0	0
TOX2	84969	broad.mit.edu	37	20	42695453	42695453	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr20:42695453G>T	ENST00000358131.5	+	7	1594	c.1386G>T	c.(1384-1386)tgG>tgT	p.W462C	TOX2_ENST00000372999.1_Missense_Mutation_p.W438C|TOX2_ENST00000423191.1_Missense_Mutation_p.W438C|TOX2_ENST00000341197.3_Missense_Mutation_p.W480C|TOX2_ENST00000435864.2_Missense_Mutation_p.W358C	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCGGGGACTGGGACAGCAGCT	0.637000													38	148					4.67007e-22	7.28391e-22	0.008740	1	0
ELTD1	64123	broad.mit.edu	37	1	79470764	79470764	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr1:79470764T>A	ENST00000370742.3	-	2	226	c.163A>T	c.(163-165)Att>Ttt	p.I55F		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	55	EGF-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CCTTCACAAATTGTGACACCA	0.373000													7	76					0	0	0.003080	0	0
LDHC	3948	broad.mit.edu	37	11	18451424	18451424	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr11:18451424C>A	ENST00000541669.1	+	4	496	c.385C>A	c.(385-387)Cct>Act	p.P129T	LDHC_ENST00000546146.1_Intron|LDHC_ENST00000544105.1_Missense_Mutation_p.P129T|LDHC_ENST00000536880.1_Missense_Mutation_p.P115T|LDHC_ENST00000535809.1_Missense_Mutation_p.P129T|LDHC_ENST00000280704.4_Missense_Mutation_p.P129T|LDHC_ENST00000537486.1_Missense_Mutation_p.P129T			P07864	LDHC_HUMAN	lactate dehydrogenase C	129					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	CCATTATAGTCCTGATTGTAA	0.413000													12	67					4.36969e-10	5.98863e-10	0.016723	1	0
MS4A12	54860	broad.mit.edu	37	11	60269478	60269478	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr11:60269478C>T	ENST00000016913.4	+	4	494	c.437C>T	c.(436-438)tCt>tTt	p.S146F	MS4A12_ENST00000537076.1_Missense_Mutation_p.S100F	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	146						integral to membrane	receptor activity	p.S146C(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						GGCTCTCTCTCTGTGTCAGCA	0.388000													19	103					0	0	0.010504	0	0
COL24A1	255631	broad.mit.edu	37	1	86289270	86289270	+	Silent	SNP	G	G	T	rs143522499	by1000genomes	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr1:86289270G>T	ENST00000370571.2	-	45	4104	c.3738C>A	c.(3736-3738)ggC>ggA	p.G1246G	COL24A1_ENST00000436319.1_Silent_p.G1246G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1246	Collagen-like 13.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CACCTGGTTCGCCCTTTAGTA	0.318000													5	56					0.000602214	0.000671268	0.014758	1	0
NMNAT2	23057	broad.mit.edu	37	1	183387391	183387391	+	Silent	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr1:183387391G>C	ENST00000287713.6	-	1	346	c.12C>G	c.(10-12)acC>acG	p.T4T		NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	4					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						GGGTCTTGGTGGTCTCGGTCA	0.567000													48	93					0	0	0.014410	0	0
PSG7	5676	broad.mit.edu	37	19	43439857	43439857	+	RNA	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:43439857T>C	ENST00000446844.3	-	0	218				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				CGGAAACTTTTGGTGGCTGGG	0.493000													27	167					0	0	0.004656	0	0
BRCA1	672	broad.mit.edu	37	17	41245558	41245558	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr17:41245558T>C	ENST00000309486.4	-	9	2129	c.1102A>G	c.(1102-1104)Aga>Gga	p.R368G	BRCA1_ENST00000471181.2_Missense_Mutation_p.R664G|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.R664G|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.R617G|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.R664G|BRCA1_ENST00000346315.3_Missense_Mutation_p.R664G	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	664					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGTAGGTTTCTGCTGTGCCTG	0.393000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			16	96					0	0	0.004007	0	0
UXT	8409	broad.mit.edu	37	X	47516687	47516687	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:47516687G>A	ENST00000335890.2	-	4	440	c.287C>T	c.(286-288)cCa>cTa	p.P96L	UXT_ENST00000333119.3_Missense_Mutation_p.P84L|UXT_ENST00000460840.1_5'UTR	NM_153477.2	NP_705582.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	84					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						TGAAGTATCTGGGCTGAGGAA	0.478000													6	14					0	0	0.001984	0	0
FAM47C	442444	broad.mit.edu	37	X	37026701	37026701	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:37026701G>T	ENST00000358047.3	+	1	270	c.218G>T	c.(217-219)cGt>cTt	p.R73L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	73										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTTTGTCGCCGTGACGAGTTT	0.527000													23	80					1.22574e-08	1.62653e-08	0.014323	1	0
PLA2G2E	30814	broad.mit.edu	37	1	20246801	20246801	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr1:20246801C>T	ENST00000375116.3	-	4	485	c.428G>A	c.(427-429)tGa>tAa	p.*143*		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	0					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCATAGCCTCAGCAGGGCGG	0.647000													7	26					0	0	0.001984	0	0
ZNF257	113835	broad.mit.edu	37	19	22271482	22271482	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:22271482T>A	ENST00000594947.1	+	4	1074	c.930T>A	c.(928-930)caT>caA	p.H310Q		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGAGAATTCATACTGGAGAGA	0.408000													4	52					0	0	0.009096	0	0
PKD1L2	114780	broad.mit.edu	37	16	81236234	81236234	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr16:81236234G>A	ENST00000599697.1	-	6	1013	c.1014C>T	c.(1012-1014)acC>acT	p.T338T	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	338					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGTCTCGCACGGTCACCTGCC	0.582000													20	60					0	0	0.007413	0	0
GNL3L	54552	broad.mit.edu	37	X	54577458	54577458	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:54577458G>T	ENST00000336470.4	+	10	977	c.838G>T	c.(838-840)Gtg>Ttg	p.V280L	GNL3L_ENST00000360845.2_Missense_Mutation_p.V280L	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	280	G.				ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						CGCATGCAGCGTGGGAGCTGT	0.557000													7	44					5.18039e-06	6.22242e-06	0.003080	1	0
UNC13C	440279	broad.mit.edu	37	15	54847645	54847645	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr15:54847645G>T	ENST00000545554.1	+	28	5893	c.5893G>T	c.(5893-5895)Gag>Tag	p.E1965*	UNC13C_ENST00000260323.11_Nonsense_Mutation_p.E1965*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E1963*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1965	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CATGATTCGAGAGGATGCCAG	0.413000													6	45					8.12818e-05	9.35973e-05	0.001984	1	0
KCNA3	3738	broad.mit.edu	37	1	111217039	111217039	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr1:111217039G>T	ENST00000369769.2	-	1	616	c.393C>A	c.(391-393)ggC>ggA	p.G131G		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	131						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTTGGGGTCGCCCAGCAGCG	0.627000													13	117					7.03913e-09	9.40049e-09	0.013537	1	0
UTRN	7402	broad.mit.edu	37	6	145157526	145157526	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr6:145157526C>G	ENST00000367545.3	+	70	9914	c.9914C>G	c.(9913-9915)cCc>cGc	p.P3305R	UTRN_ENST00000367526.4_Missense_Mutation_p.P860R	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3305					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			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)		ATTATATCTCCCCATCACACG	0.502000													29	125					0	0	0.008361	0	0
CXorf61	203413	broad.mit.edu	37	X	115593060	115593060	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:115593060G>T	ENST00000371894.4	-	2	336	c.190C>A	c.(190-192)Cgg>Agg	p.R64R		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	64						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						AAAATATCCCGAGAGAGGTCG	0.408000													10	102					3.86212e-05	4.49684e-05	0.008291	1	0
TTN	7273	broad.mit.edu	37	2	179483207	179483207	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:179483207G>T	ENST00000589042.1	-	252	47202	c.46978C>A	c.(46978-46980)Cca>Aca	p.P15660T	TTN_ENST00000342992.6_Missense_Mutation_p.P13092T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P6787T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P6720T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P6595T|TTN_ENST00000591111.1_Missense_Mutation_p.P14019T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14019	Ig-like 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACGTACTGGCCCAGGAACA	0.403000													22	67					1.28384e-07	1.63114e-07	0.012319	1	0
NTN1	9423	broad.mit.edu	37	17	8926249	8926249	+	Silent	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr17:8926249C>A	ENST00000173229.2	+	2	666	c.559C>A	c.(559-561)Cgg>Agg	p.R187R	NTN1_ENST00000546090.1_Silent_p.R187R|NTN1_ENST00000538852.1_Silent_p.R187R	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	187	Laminin N-terminal.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						GATGTACAACCGGCCGCACCG	0.667000													4	21					0.00909568	0.00977376	0.009096	1	0
NOC4L	79050	broad.mit.edu	37	12	132631856	132631856	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr12:132631856G>C	ENST00000330579.1	+	4	417	c.376G>C	c.(376-378)Gtg>Ctg	p.V126L		NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	126					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CCTGAAGTTCGTGCAGCTGGA	0.647000													3	4					0	0	0.009096	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49377451	49377451	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:49377451G>A	ENST00000200453.5	+	2	1230	c.961G>A	c.(961-963)Gag>Aag	p.E321K		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	321	Glu-rich.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GGGGGCAGCTGAGAAGGATGG	0.612000													14	60					0	0	0.020292	0	0
ASIC2	40	broad.mit.edu	37	17	31439077	31439077	+	Silent	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr17:31439077T>C	ENST00000225823.2	-	2	1589	c.717A>G	c.(715-717)acA>acG	p.T239T	ASIC2_ENST00000359872.6_Silent_p.T188T|RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	188					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TCCCATATTTTGTAAACACCT	0.527000													7	38					0	0	0.001984	0	0
MEGF8	1954	broad.mit.edu	37	19	42860263	42860263	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:42860263G>A	ENST00000334370.4	+	24	4855	c.4220G>A	c.(4219-4221)gGc>gAc	p.G1407D	MEGF8_ENST00000251268.6_Missense_Mutation_p.G1474D	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1474	EGF-like 4.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGTGCCGAGGGCTTCGGGGGC	0.672000													9	13					0	0	0.004482	0	0
DOK6	220164	broad.mit.edu	37	18	67266726	67266726	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr18:67266726G>T	ENST00000382713.5	+	3	471	c.281G>T	c.(280-282)tGt>tTt	p.C94F	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	94	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				ACATTTGCCTGTGAGTCAGGT	0.448000													5	19					5.9392e-07	7.34493e-07	0.001168	1	0
KCNH7	90134	broad.mit.edu	37	2	163695000	163695000	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:163695000G>T	ENST00000332142.5	-	1	128	c.29C>A	c.(28-30)cCa>cAa	p.P10Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.P10Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	10					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGTATTTTGTGGTGCCACATG	0.562000													14	56					2.48551e-13	3.63266e-13	0.004990	1	0
ZNF182	7569	broad.mit.edu	37	X	47836067	47836067	+	Silent	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:47836067G>C	ENST00000396965.1	-	7	1769	c.1419C>G	c.(1417-1419)ctC>ctG	p.L473L	ZNF182_ENST00000376943.3_Silent_p.L454L|ZNF182_ENST00000305127.6_Silent_p.L473L	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						GATGCAGCATGAGGTAGGACT	0.393000													9	59					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179585700	179585700	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:179585700C>A	ENST00000589042.1	-	79	23270	c.23046G>T	c.(23044-23046)gaG>gaT	p.E7682D	TTN_ENST00000342992.6_Missense_Mutation_p.E6438D|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E7365D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7365	Ig-like 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTATGAGCCTCACAAATGT	0.428000													8	74					1.12685e-05	1.34195e-05	0.004482	1	0
SH2D1A	4068	broad.mit.edu	37	X	123480493	123480493	+	Translation_Start_Site	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:123480493A>G	ENST00000371139.4	+	1	300	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SH2D1A_ENST00000470647.1_3'UTR|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000360027.4_Start_Codon_SNP_p.M1V	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	1					cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CCACCAGGCCATGGACGCAGT	0.592000													14	100					0	0	0.004007	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798378	148798378	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:148798378C>A	ENST00000355220.5	+	5	1334	c.1232C>A	c.(1231-1233)cCc>cAc	p.P411H	MAGEA11_ENST00000333104.4_Missense_Mutation_p.P382H	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	411	MAGE.					cytoplasm|nucleus	protein binding			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)					GGGAGGGATCCCACTTCTTAC	0.547000													24	168					5.45024e-15	8.05018e-15	0.018920	1	0
OR2L13	284521	broad.mit.edu	37	1	248262829	248262829	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr1:248262829A>G	ENST00000366478.2	+	3	489	c.152A>G	c.(151-153)gAt>gGt	p.D51G	OR2L13_ENST00000358120.2_Missense_Mutation_p.D51G	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			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)			ATCCACGTGGATCCTCGTCTC	0.502000													6	151					0	0	0.001984	0	0
DCHS2	54798	broad.mit.edu	37	4	155249332	155249332	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr4:155249332G>A	ENST00000357232.3	-	12	2565	c.2566C>T	c.(2566-2568)Caa>Taa	p.Q856*	DCHS2_ENST00000339452.1_Nonsense_Mutation_p.Q1311*	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	856	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTTACTGGTTGACCTTCCAGA	0.333000													20	37					0	0	0.010504	0	0
FITM2	128486	broad.mit.edu	37	20	42935681	42935681	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr20:42935681G>A	ENST00000396825.3	-	2	393	c.373C>T	c.(373-375)Cca>Tca	p.P125S		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	125					cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				endometrium(2)|lung(2)|skin(2)	6						TCCAGGGCTGGGGACTGGTAG	0.597000													9	56					0	0	0.006214	0	0
FAM83H	286077	broad.mit.edu	37	8	144812599	144812599	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr8:144812599C>T	ENST00000388913.3	-	2	279	c.154G>A	c.(154-156)Gca>Aca	p.A52T		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	52					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAGTCTGGTGCCCCCTCGGTA	0.627000													26	64					0	0	0.005443	0	0
PLCH1	23007	broad.mit.edu	37	3	155200696	155200696	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr3:155200696T>G	ENST00000460012.1	-	23	3386	c.3029A>C	c.(3028-3030)cAc>cCc	p.H1010P	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.H1010P|PLCH1_ENST00000414191.1_Missense_Mutation_p.H1010P|PLCH1_ENST00000340059.7_Missense_Mutation_p.H1048P			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1048					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GACTGACATGTGGGCAGTAGA	0.488000													24	90					0	0	0.021523	0	0
TLL1	7092	broad.mit.edu	37	4	166916211	166916211	+	Splice_Site	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr4:166916211A>G	ENST00000061240.2	+	5	1161		c.e5-1		TLL1_ENST00000513213.1_Splice_Site|TLL1_ENST00000507499.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CATTTTTTCTAGGCAGCCAGA	0.458000													26	63					0	0	0.018920	0	0
VIT	5212	broad.mit.edu	37	2	36982161	36982161	+	Translation_Start_Site	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:36982161T>G	ENST00000497382.1	+	0	560				VIT_ENST00000389975.3_Missense_Mutation_p.S125A|VIT_ENST00000404084.1_Missense_Mutation_p.S103A|VIT_ENST00000379242.3_Missense_Mutation_p.S125A|VIT_ENST00000379241.3_Missense_Mutation_p.S125A|VIT_ENST00000401530.1_Missense_Mutation_p.S125A|VIT_ENST00000457137.2_Missense_Mutation_p.S125A			Q6UXI7	VITRN_HUMAN	vitrin							proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCAATCGTTATCCCTACCACG	0.438000													5	32					0	0	0.001168	0	0
CXorf22	170063	broad.mit.edu	37	X	35990013	35990013	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:35990013T>C	ENST00000297866.5	+	13	2251	c.2185T>C	c.(2185-2187)Tcc>Ccc	p.S729P		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	729										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATCAGAACCATCCACTCCACA	0.323000													3	12					0	0	0.004672	0	0
PCNT	5116	broad.mit.edu	37	21	47773909	47773909	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr21:47773909G>A	ENST00000359568.5	+	11	1795	c.1688G>A	c.(1687-1689)tGt>tAt	p.C563Y	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	563	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGGTTGTCCTGTGTGGGTTTA	0.493000													10	22					0	0	0.006214	0	0
SUCLG2	8801	broad.mit.edu	37	3	67571002	67571002	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr3:67571002C>A	ENST00000307227.5	-	5	501	c.474G>T	c.(472-474)atG>atT	p.M158I	SUCLG2_ENST00000493112.1_Missense_Mutation_p.M158I|SUCLG2_ENST00000492795.1_Missense_Mutation_p.M158I	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	158	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	AGGACCGGTCCATCAGAATTG	0.512000													15	80					1.01871e-10	1.42415e-10	0.008871	1	0
PTPRM	5797	broad.mit.edu	37	18	7949203	7949203	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr18:7949203C>T	ENST00000332175.8	+	6	1725	c.688C>T	c.(688-690)Ctg>Ttg	p.L230L	PTPRM_ENST00000400060.4_Silent_p.L230L|PTPRM_ENST00000400053.4_Silent_p.L168L|PTPRM_ENST00000580170.1_Silent_p.L230L|PTPRM_ENST00000444013.1_Silent_p.L17L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	230	Ig-like C2-type.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGATGCTCCTCTGAAGGAAAT	0.473000													13	78					0	0	0.003163	0	0
ENPP1	5167	broad.mit.edu	37	6	132206176	132206176	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr6:132206176G>C	ENST00000360971.2	+	23	2437	c.2417G>C	c.(2416-2418)cGt>cCt	p.R806P		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	806	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TATGATGGACGTTGTGATTCC	0.398000													8	38					0	0	0.003080	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130319057	130319057	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr11:130319057C>T	ENST00000299164.2	+	1	189	c.189C>T	c.(187-189)gaC>gaT	p.D63D		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	63					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TTCAGGAGGACTTTTACCTAC	0.612000													11	90					0	0	0.008291	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043258	71043258	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:71043258C>A	ENST00000272367.2	-	4	1331	c.1255G>T	c.(1255-1257)Gcc>Tcc	p.A419S	CLEC4F_ENST00000426626.1_Missense_Mutation_p.A419S	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	419					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TGGATCTCGGCACTGGCCTTC	0.498000													9	34					7.48243e-07	9.19899e-07	0.006214	1	0
SNRPN	6638	broad.mit.edu	37	15	25222051	25222051	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr15:25222051G>T	ENST00000444203.2	+	5	1346	c.307G>T	c.(307-309)Gga>Tga	p.G103*	SNRPN_ENST00000554227.2_Nonsense_Mutation_p.G103*|SNRPN_ENST00000390687.4_Nonsense_Mutation_p.G99*|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000346403.6_Nonsense_Mutation_p.G99*|SNRPN_ENST00000577565.1_Nonsense_Mutation_p.G99*|SNRPN_ENST00000400097.1_Nonsense_Mutation_p.G99*|SNRPN_ENST00000400098.1_Nonsense_Mutation_p.G99*|SNRPN_ENST00000400100.1_Nonsense_Mutation_p.G99*			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	99					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	p.G99*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		ACCACTTGCTGGAGCTGCTGG	0.512000									Prader-Willi syndrome				13	75					6.31663e-08	8.12415e-08	0.003163	1	0
CDH19	28513	broad.mit.edu	37	18	64202257	64202257	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr18:64202257A>T	ENST00000262150.2	-	8	1594	c.1302T>A	c.(1300-1302)gcT>gcA	p.A434A	CDH19_ENST00000540086.1_Silent_p.A434A	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	434	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GGTTGTACCAAGCACTGATTT	0.323000													6	28					0	0	0.001168	0	0
USP9X	8239	broad.mit.edu	37	X	41031206	41031206	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:41031206C>G	ENST00000324545.7	+	21	3776	c.3143C>G	c.(3142-3144)cCg>cGg	p.P1048R	USP9X_ENST00000378308.2_Missense_Mutation_p.P1048R	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1048					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAACTTATGCCGCCAGGTAAG	0.388000													8	68					0	0	0.004482	0	0
CACNA1F	778	broad.mit.edu	37	X	49065125	49065125	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:49065125G>T	ENST00000376265.2	-	43	5067	c.5006C>A	c.(5005-5007)cCc>cAc	p.P1669H	CACNA1F_ENST00000376251.1_Missense_Mutation_p.P1604H|CACNA1F_ENST00000323022.5_Missense_Mutation_p.P1658H	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1669					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GCGAGCTGAGGGCTGGGAGAC	0.562000													12	65					4.36969e-10	5.98863e-10	0.016723	1	0
OR2T33	391195	broad.mit.edu	37	1	248436759	248436759	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr1:248436759G>T	ENST00000318021.2	-	1	379	c.358C>A	c.(358-360)Cgc>Agc	p.R120S		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCGCATAGCGGTCATAGGCC	0.592000													21	95					2.85442e-18	4.3705e-18	0.010818	1	0
LAMA2	3908	broad.mit.edu	37	6	129762020	129762020	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr6:129762020A>G	ENST00000421865.2	+	43	6194	c.6145A>G	c.(6145-6147)Aaa>Gaa	p.K2049E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2049	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CGACACAGCTAAAGATGTACT	0.453000													7	47					0	0	0.001984	0	0
XDH	7498	broad.mit.edu	37	2	31598336	31598336	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:31598336C>A	ENST00000379416.3	-	15	1560	c.1512G>T	c.(1510-1512)atG>atT	p.M504I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	504					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			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)	GGAAGTCCACCATGCCACCAG	0.607000													20	72					1.56452e-12	2.25507e-12	0.007413	1	0
HCFC1	3054	broad.mit.edu	37	X	153218076	153218076	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:153218076C>A	ENST00000310441.7	-	19	5797	c.4831G>T	c.(4831-4833)Gag>Tag	p.E1611*	HCFC1_ENST00000369984.4_Nonsense_Mutation_p.E1655*|HCFC1_ENST00000354233.3_Nonsense_Mutation_p.E1542*	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1611					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTGCCAGCTCCTCGGGGGTG	0.662000													11	49					1.58986e-06	1.92627e-06	0.008291	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140712526	140712526	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr5:140712526C>A	ENST00000517417.1	+	1	2275	c.2275C>A	c.(2275-2277)Ctc>Atc	p.L759I	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.L759I	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGGTCTCCCTCACTGCGGA	0.592000													38	137					1.32136e-16	2.01579e-16	0.008740	1	0
FHL1	2273	broad.mit.edu	37	X	135288651	135288651	+	Silent	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:135288651G>C	ENST00000543669.1	+	2	771	c.60G>C	c.(58-60)gtG>gtC	p.V20V	FHL1_ENST00000535737.1_Silent_p.V20V|FHL1_ENST00000539015.1_Silent_p.V49V|FHL1_ENST00000394153.2_Silent_p.V20V|FHL1_ENST00000394155.2_Silent_p.V20V|FHL1_ENST00000370683.1_Silent_p.V36V|FHL1_ENST00000370690.3_Silent_p.V20V|FHL1_ENST00000345434.3_Silent_p.V20V|FHL1_ENST00000370676.3_Silent_p.V36V|FHL1_ENST00000477080.1_3'UTR	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	20					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					AGAAGTATGTGCAAAAGGATG	0.567000													38	215					0	0	0.005524	0	0
ANK2	287	broad.mit.edu	37	4	114163318	114163318	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr4:114163318G>C	ENST00000357077.4	+	9	897	c.844G>C	c.(844-846)Gtg>Ctg	p.V282L	ANK2_ENST00000264366.6_Missense_Mutation_p.V282L|ANK2_ENST00000394537.3_Missense_Mutation_p.V282L|ANK2_ENST00000506722.1_Missense_Mutation_p.V261L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	282					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			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)		TACAAACATGGTGAAGCTCTT	0.438000													13	32					0	0	0.003163	0	0
DHX34	9704	broad.mit.edu	37	19	47863303	47863303	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:47863303G>T	ENST00000328771.4	+	5	1700	c.1351G>T	c.(1351-1353)Ggg>Tgg	p.G451W	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	451	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CACCATTGACGGGATCCGCTT	0.592000													33	100					2.08457e-15	3.11196e-15	0.010818	1	0
ZFP69B	65243	broad.mit.edu	37	1	40928732	40928732	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr1:40928732G>A	ENST00000411995.2	+	6	1451	c.1076G>A	c.(1075-1077)gGg>gAg	p.G359E	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.G257E	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		ATTCATACCGGGGAAAAGCCC	0.423000													6	43					0	0	0.001984	0	0
OR4M2	390538	broad.mit.edu	37	15	22369359	22369359	+	Missense_Mutation	SNP	C	C	G	rs145231732		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr15:22369359C>G	ENST00000332663.2	+	1	882	c.784C>G	c.(784-786)Cgc>Ggc	p.R262G	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CATTTATGCTCGCCCATTTGA	0.418000													6	141					0	0	0.001984	0	0
ZNF99	7652	broad.mit.edu	37	19	22952031	22952031	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:22952031C>G	ENST00000397104.3	-	2	161	c.162G>C	c.(160-162)atG>atC	p.M54I	ZNF99_ENST00000596209.1_Missense_Mutation_p.M33I					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGTTCTCTAACATAACATTCC	0.393000													7	78					0	0	0.003080	0	0
GPR112	139378	broad.mit.edu	37	X	135482271	135482271	+	Silent	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:135482271T>A	ENST00000394143.1	+	21	8862	c.8571T>A	c.(8569-8571)ggT>ggA	p.G2857G	GPR112_ENST00000287534.4_Silent_p.G2610G|GPR112_ENST00000412101.1_Silent_p.G2652G|GPR112_ENST00000394141.1_Silent_p.G2652G|GPR112_ENST00000370652.1_Silent_p.G2857G	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2857					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTCTAGTTGGTTGGGGTAAGT	0.333000													8	60					0	0	0.004482	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457455	110457455	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr8:110457455A>T	ENST00000378402.5	+	38	5461	c.5357A>T	c.(5356-5358)cAa>cTa	p.Q1786L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1786	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTGGAAATCAACAGTTCAGA	0.413000										HNSCC(38;0.096)			26	58					0	0	0.004656	0	0
PAX4	5078	broad.mit.edu	37	7	127253104	127253104	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:127253104C>T	ENST00000341640.2	-	6	868	c.663G>A	c.(661-663)gaG>gaA	p.E221E	PAX4_ENST00000338516.3_Silent_p.E229E|PAX4_ENST00000378740.2_Silent_p.E221E|PAX4_ENST00000463946.1_Silent_p.E219E	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	229					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACTTGAGCTTCTCTTGCCGAC	0.527000													13	68					0	0	0.020292	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720341	140720341	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr5:140720341C>T	ENST00000394576.2	+	1	1803	c.1803C>T	c.(1801-1803)aaC>aaT	p.N601N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCCAGAACGCCTGGCTGT	0.692000													26	113					0	0	0.004656	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962135	73962135	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:73962135G>T	ENST00000373468.1	-	3	2908	c.2257C>A	c.(2257-2259)Caa>Aaa	p.Q753K	KIAA2022_ENST00000055682.5_Missense_Mutation_p.Q753K			Q5QGS0	K2022_HUMAN	KIAA2022	753					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTGAGGATTGGTTTTCCAAG	0.388000													14	80					4.3838e-07	5.45366e-07	0.016723	1	0
TP53	7157	broad.mit.edu	37	17	7577556	7577556	+	Missense_Mutation	SNP	C	C	A	rs121912655		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr17:7577556C>A	ENST00000420246.2	-	7	857	c.725G>T	c.(724-726)tGc>tTc	p.C242F	TP53_ENST00000445888.2_Missense_Mutation_p.C242F|TP53_ENST00000359597.4_Missense_Mutation_p.C242F|TP53_ENST00000413465.2_Missense_Mutation_p.C242F|TP53_ENST00000455263.2_Missense_Mutation_p.C242F|TP53_ENST00000269305.4_Missense_Mutation_p.C242F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)		GCCGCCCATGCAGGAACTGTT	0.577000		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)			28	44					3.00307e-07	3.76961e-07	0.008361	1	0
HDAC6	10013	broad.mit.edu	37	X	48681334	48681334	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:48681334G>T	ENST00000334136.5	+	25	2703	c.2525G>T	c.(2524-2526)aGa>aTa	p.R842I	HDAC6_ENST00000444343.2_Missense_Mutation_p.R856I|HDAC6_ENST00000376619.2_Missense_Mutation_p.R842I			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	842					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule 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)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GTAGAAGACAGAGAAGGACCC	0.562000													5	48					1.23904e-05	1.46305e-05	0.014758	1	0
ONECUT1	3175	broad.mit.edu	37	15	53050034	53050034	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr15:53050034C>T	ENST00000560699.2	-	2	598	c.38G>A	c.(37-39)gGa>gAa	p.G13E	ONECUT1_ENST00000305901.5_Silent_p.R372R|ONECUT1_ENST00000561401.2_5'UTR			Q9UBC0	HNF6_HUMAN	one cut homeobox 1	0					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CTTGTTCTTTCCTTTTGCATG	0.423000													17	95					0	0	0.004007	0	0
MAGIX	79917	broad.mit.edu	37	X	49021378	49021378	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:49021378G>T	ENST00000376338.3	+	2	359	c.280G>T	c.(280-282)Gtg>Ttg	p.V94L	MAGIX_ENST00000425661.2_Intron|MAGIX_ENST00000412696.2_Missense_Mutation_p.V153L|MAGIX_ENST00000376339.1_Missense_Mutation_p.V94L|MAGIX_ENST00000498742.1_3'UTR			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	153																	TCCGCTGGCCGTGCGCGGGCT	0.632000													27	96					6.32553e-13	9.14904e-13	0.004656	1	0
ZSWIM2	151112	broad.mit.edu	37	2	187703819	187703819	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:187703819G>T	ENST00000295131.2	-	4	400	c.361C>A	c.(361-363)Cca>Aca	p.P121T		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	121					apoptosis		zinc ion binding			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)			TTTGTTCCTGGTTGGGGAGTT	0.403000													44	201					4.67007e-22	7.28391e-22	0.008740	1	0
HRNR	388697	broad.mit.edu	37	1	152191468	152191468	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr1:152191468G>T	ENST00000368801.2	-	3	2712	c.2637C>A	c.(2635-2637)ggC>ggA	p.G879G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	879					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCGGCCGCGGCCCGAAGCGT	0.622000													48	90					3.77016e-25	5.96942e-25	0.013114	1	0
KHDRBS2	202559	broad.mit.edu	37	6	62604606	62604606	+	Silent	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr6:62604606C>A	ENST00000281156.4	-	6	1022	c.744G>T	c.(742-744)cgG>cgT	p.R248R		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	248	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTGGTGCCCCCCGGGCTCGAG	0.552000													17	47					1.99824e-07	2.51585e-07	0.004990	1	0
SLC43A3	29015	broad.mit.edu	37	11	57175325	57175325	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr11:57175325G>A	ENST00000395123.2	-	14	1720	c.1416C>T	c.(1414-1416)caC>caT	p.H472H	SLC43A3_ENST00000529554.1_Silent_p.H472H|SLC43A3_ENST00000352187.1_Silent_p.H472H|SLC43A3_ENST00000395124.1_Silent_p.H472H|RP11-872D17.8_ENST00000529411.1_Intron|SLC43A3_ENST00000533524.1_Silent_p.H485H	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	472					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CCAGAAAGGGGTGGAAGAATG	0.463000													18	44					0	0	0.008871	0	0
SLC6A13	6540	broad.mit.edu	37	12	333259	333259	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr12:333259C>T	ENST00000343164.4	-	11	1262	c.1210G>A	c.(1210-1212)Gac>Aac	p.D404N	SLC6A13_ENST00000445055.2_Missense_Mutation_p.D312N|SLC6A13_ENST00000539668.1_5'UTR	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	404					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GGGTACATGTCCACCAGCGCT	0.557000													6	40					0	0	0.001984	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325656	79325656	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr9:79325656A>G	ENST00000428286.1	-	8	1657	c.457T>C	c.(457-459)Tct>Cct	p.S153P	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S512P			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	512					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TAGTCTGCAGAATGAGAAGAT	0.547000													20	26					0	0	0.008871	0	0
IGSF10	285313	broad.mit.edu	37	3	151163676	151163676	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr3:151163676T>A	ENST00000282466.3	-	4	4092	c.4093A>T	c.(4093-4095)Agt>Tgt	p.S1365C		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1365					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGCCAGAACTCTGGTCTGGA	0.473000													51	303					0	0	0.014410	0	0
NAA25	80018	broad.mit.edu	37	12	112528566	112528566	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr12:112528566G>C	ENST00000261745.4	-	3	495	c.247C>G	c.(247-249)Cag>Gag	p.Q83E		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	83						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GTCAGTGCCTGCAGTGAGTTG	0.423000													25	83					0	0	0.018920	0	0
RTL1	388015	broad.mit.edu	37	14	101349302	101349302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr14:101349302G>T	ENST00000534062.1	-	1	1882	c.1824C>A	c.(1822-1824)taC>taA	p.Y608*		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	608										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						AGGGACACTCGTAAAAGGTCT	0.567000													8	35					3.09899e-07	3.86679e-07	0.004482	1	0
DNM1	1759	broad.mit.edu	37	9	131001792	131001792	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr9:131001792C>T	ENST00000341179.7	+	12	1583	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A	DNM1_ENST00000475805.1_Silent_p.A497A|DNM1_ENST00000393594.3_Silent_p.A497A|DNM1_ENST00000372923.3_Silent_p.A497A|DNM1_ENST00000486160.1_Silent_p.A497A	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	497					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TAGGCTTTGCCAAGTGAGTGC	0.512000													144	202					0	0	0.014410	0	0
PMPCB	9512	broad.mit.edu	37	7	102952105	102952105	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:102952105A>T	ENST00000249269.4	+	10	1208	c.1170A>T	c.(1168-1170)acA>acT	p.T390T	PMPCB_ENST00000420236.2_Silent_p.T285T|PMPCB_ENST00000428154.1_Silent_p.T390T	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	390					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GACTCTGTACAAGTGTCACAG	0.363000													5	33					0	0	0.014758	0	0
CYP26A1	1592	broad.mit.edu	37	10	94834702	94834702	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr10:94834702T>A	ENST00000371531.1	+	3	752	c.374T>A	c.(373-375)cTg>cAg	p.L125Q	CYP26A1_ENST00000394139.1_Missense_Mutation_p.L125Q|CYP26A1_ENST00000224356.4_Missense_Mutation_p.L194Q	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	194					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				CGCATCCTACTGGGCTGCGAA	0.657000													11	87					0	0	0.013537	0	0
SPTA1	6708	broad.mit.edu	37	1	158583633	158583633	+	Silent	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr1:158583633C>G	ENST00000368148.3	-	50	7047	c.6867G>C	c.(6865-6867)ggG>ggC	p.G2289G	SPTA1_ENST00000368147.3_Silent_p.G2286G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2289	EF-hand 1.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAGTCAGGCGCCCTGTCAAAT	0.408000													14	29					0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179431634	179431634	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:179431634G>T	ENST00000589042.1	-	326	79449	c.79225C>A	c.(79225-79227)Cgt>Agt	p.R26409S	TTN_ENST00000342992.6_Missense_Mutation_p.R23841S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17536S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17469S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R17344S|TTN_ENST00000591111.1_Missense_Mutation_p.R24768S|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24768	Ig-like 127.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATCTGGACGGTTCCAACAG	0.413000													27	78					3.73808e-20	5.80862e-20	0.005443	1	0
MAGEA5	4104	broad.mit.edu	37	X	151283934	151283934	+	RNA	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:151283934C>A	ENST00000509345.2	-	0	402																											GCCTGCACACCCACCAGGCCC	0.627000													20	112					3.51602e-12	4.96519e-12	0.008871	1	0
LY96	23643	broad.mit.edu	37	8	74922334	74922334	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr8:74922334G>C	ENST00000284818.2	+	3	392	c.301G>C	c.(301-303)Gat>Cat	p.D101H	LY96_ENST00000518893.1_Missense_Mutation_p.D71H	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	101					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			ATCTGATGACGATTACTCTTT	0.313000													8	46					0	0	0.004482	0	0
GPRASP2	114928	broad.mit.edu	37	X	101970137	101970137	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:101970137G>C	ENST00000543253.1	+	5	1259	c.340G>C	c.(340-342)Gcc>Ccc	p.A114P	GPRASP2_ENST00000332262.5_Missense_Mutation_p.A114P|GPRASP2_ENST00000535209.1_Missense_Mutation_p.A114P	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TAAAACTGATGCCAAGGCAAT	0.577000													38	188					0	0	0.021022	0	0
ABCC9	10060	broad.mit.edu	37	12	21991070	21991070	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr12:21991070G>A	ENST00000261200.4	-	28	3507	c.3508C>T	c.(3508-3510)Cct>Tct	p.P1170S	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.P1170S|ABCC9_ENST00000345162.2_Missense_Mutation_p.P1134S	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1170	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGAGCAGAGGGAGCTGGGTA	0.443000													23	70					0	0	0.016522	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105446604	105446604	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr12:105446604G>T	ENST00000258494.9	-	11	1533	c.1393C>A	c.(1393-1395)Cca>Aca	p.P465T	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P465T	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	465	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			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CCATCTGTTGGGTTGATAGTG	0.383000											OREG0022073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	39					1.76689e-08	2.31524e-08	0.006214	1	0
DCAF8L2	347442	broad.mit.edu	37	X	27765882	27765882	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:27765882G>T	ENST00000451261.2	+	5	1269	c.870G>T	c.(868-870)atG>atT	p.M290I		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CTCTGGCCATGTGTGCCCGTG	0.502000													8	23					0.00307968	0.00336991	0.003080	1	0
GRIN2C	2905	broad.mit.edu	37	17	72846860	72846860	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr17:72846860C>G	ENST00000293190.5	-	5	1306	c.1160G>C	c.(1159-1161)tGg>tCg	p.W387S	GRIN2C_ENST00000347612.4_Missense_Mutation_p.W387S	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	387					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GTAGCGAGGCCACACGGGGTA	0.657000													8	19					0	0	0.004482	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262292	140262292	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr5:140262292C>A	ENST00000289272.2	+	1	439	c.439C>A	c.(439-441)Cct>Act	p.P147T	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P147T|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAATCTAGACCTCCGGAAAC	0.463000													25	74					2.21704e-12	3.15211e-12	0.016522	1	0
PRKD1	5587	broad.mit.edu	37	14	30135391	30135391	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr14:30135391G>C	ENST00000331968.5	-	3	656	c.427C>G	c.(427-429)Cag>Gag	p.Q143E	PRKD1_ENST00000415220.2_Missense_Mutation_p.Q143E	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	143					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGACGAATCTGAAAGTCTTCA	0.408000													12	43					0	0	0.016723	0	0
AC005863.1	0	broad.mit.edu	37	17	14683358	14683358	+	RNA	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr17:14683358C>T	ENST00000379640.1	-	0	162																											GGCTATGCAGCGGAAACACAC	0.557000													10	69					0	0	0.008291	0	0
OR6K2	81448	broad.mit.edu	37	1	158669539	158669539	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr1:158669539T>A	ENST00000359610.2	-	1	947	c.904A>T	c.(904-906)Ata>Tta	p.I302L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGCTTTTTTATAGCTTCTTTT	0.378000													13	25					0	0	0.013537	0	0
CCPG1	9236	broad.mit.edu	37	15	55657499	55657499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr15:55657499G>A	ENST00000310958.6	-	7	1013	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	CCPG1_ENST00000425574.3_Nonsense_Mutation_p.Q239*|CCPG1_ENST00000569205.1_Nonsense_Mutation_p.Q239*|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Nonsense_Mutation_p.Q239*	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	239	Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTCTGAATCTGAATTGTGCCt	0.269000													15	70					0	0	0.020292	0	0
XRN2	22803	broad.mit.edu	37	20	21346226	21346226	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr20:21346226A>T	ENST00000377191.3	+	26	2435	c.2340A>T	c.(2338-2340)gtA>gtT	p.V780V	XRN2_ENST00000430571.2_Silent_p.V704V|XRN2_ENST00000539513.1_Silent_p.V726V	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	780					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CAGCAGCAGTACTGAAACCTA	0.443000													19	68					0	0	0.008871	0	0
LIMA1	51474	broad.mit.edu	37	12	50594639	50594639	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr12:50594639A>G	ENST00000341247.4	-	7	1042	c.893T>C	c.(892-894)aTc>aCc	p.I298T	LIMA1_ENST00000552909.1_Missense_Mutation_p.I138T|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000552823.1_Missense_Mutation_p.I138T|LIMA1_ENST00000552783.1_Missense_Mutation_p.I138T|LIMA1_ENST00000547825.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.I298T	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	298					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						ATGAATTTTGATTTCGCCACC	0.388000													56	243					0	0	0.014410	0	0
LHX3	8022	broad.mit.edu	37	9	139090618	139090618	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr9:139090618C>A	ENST00000371746.3	-	5	788	c.670G>T	c.(670-672)Gcc>Tcc	p.A224S	LHX3_ENST00000371748.5_Missense_Mutation_p.A219S	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	219					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		TGCCGGCCGGCGTCCTTCTTC	0.706000													17	79					9.16793e-09	1.22044e-08	0.004990	1	0
SNHG14	104472715	broad.mit.edu	37	15	25231989	25231989	+	RNA	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr15:25231989G>T	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						GAGATGACACgtgtatgtgcg	0.473000													8	28					0.00307968	0.00336991	0.003080	1	0
RGL3	57139	broad.mit.edu	37	19	11527319	11527319	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:11527319C>T	ENST00000380456.3	-	4	457	c.394G>A	c.(394-396)Gta>Ata	p.V132I	RGL3_ENST00000393423.3_Missense_Mutation_p.V132I	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	132	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		p.V132L(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						AGATCTTGTACCGCTGTCTTC	0.567000													23	94					0	0	0.014323	0	0
OR52M1	119772	broad.mit.edu	37	11	4567362	4567362	+	Missense_Mutation	SNP	G	G	A	rs77669724		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr11:4567362G>A	ENST00000360213.1	+	1	942	c.942G>A	c.(940-942)atG>atA	p.M314I		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M314I(1)		endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATAGAAATGAAGATTAGAT	0.403000													7	22					0	0	0.003080	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507545	74507545	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr1:74507545G>T	ENST00000354431.4	-	7	1261	c.1070C>A	c.(1069-1071)cCc>cAc	p.P357H	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P357H	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	357								p.P357L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AGTGTATATGGGTAGTTTGAA	0.338000													4	39					2.56e-06	3.0838e-06	0.009096	1	0
ZBTB33	10009	broad.mit.edu	37	X	119389152	119389152	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:119389152G>C	ENST00000326624.2	+	2	2110	c.1882G>C	c.(1882-1884)Ggg>Cgg	p.G628R	ZBTB33_ENST00000557385.1_Missense_Mutation_p.G628R	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	628	Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACCTCCAGTAGGGACCACTAC	0.383000													13	88					0	0	0.013537	0	0
GAB3	139716	broad.mit.edu	37	X	153944560	153944560	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:153944560G>T	ENST00000369575.3	-	2	148	c.117C>A	c.(115-117)agC>agA	p.S39R	GAB3_ENST00000424127.2_Missense_Mutation_p.S39R|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	39	PH.									NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGGGTTGCCGCTCATGCGGC	0.562000													10	56					0.000442599	0.000497329	0.006214	1	0
LIFR	3977	broad.mit.edu	37	5	38486030	38486030	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr5:38486030C>T	ENST00000263409.4	-	17	2550	c.2388G>A	c.(2386-2388)ctG>ctA	p.L796L	LIFR_ENST00000453190.2_Silent_p.L796L	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	796	Fibronectin type-III 6.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CAGCAATTCTCAGTGTCTTCT	0.398000			T	PLAG1	salivary adenoma								9	44					0	0	0.004482	0	0
GIGYF1	64599	broad.mit.edu	37	7	100281723	100281723	+	Silent	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:100281723C>G	ENST00000275732.5	-	15	2997	c.1788G>C	c.(1786-1788)ccG>ccC	p.P596P		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	596	Gln-rich.|Poly-Pro.							p.P315P(1)|p.P596P(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCGGTGGTGGCGGTGTCAGGT	0.687000													11	41					0	0	0.013537	0	0
MORC4	79710	broad.mit.edu	37	X	106200165	106200165	+	Splice_Site	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:106200165C>G	ENST00000355610.4	-	12	1729		c.e12+1		MORC4_ENST00000535534.1_Splice_Site|MORC4_ENST00000255495.7_Splice_Site	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4								ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GTATACTCAACTGTTTCTTAG	0.428000													7	112					0	0	0.004482	0	0
MYO16	23026	broad.mit.edu	37	13	109707435	109707435	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr13:109707435G>A	ENST00000356711.2	+	26	3150	c.3024G>A	c.(3022-3024)ttG>ttA	p.L1008L	MYO16_ENST00000357550.2_Silent_p.L1008L|MYO16_ENST00000457511.2_Silent_p.L520L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1008	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTCAAAGATTGGAACGAGGAG	0.343000													8	30					0	0	0.004482	0	0
OTOF	9381	broad.mit.edu	37	2	26687858	26687858	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:26687858G>A	ENST00000272371.2	-	39	4965	c.4839C>T	c.(4837-4839)agC>agT	p.S1613S	OTOF_ENST00000402415.3_Silent_p.S923S|OTOF_ENST00000339598.3_Silent_p.S846S|OTOF_ENST00000338581.6_Silent_p.S846S|OTOF_ENST00000403946.3_Silent_p.S1613S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1613					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGGATCTGGCTGGGCTTCA	0.627000													8	45					0	0	0.004482	0	0
TECTB	6975	broad.mit.edu	37	10	114045943	114045943	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr10:114045943T>A	ENST00000369422.3	+	3	382	c.382T>A	c.(382-384)Ttg>Atg	p.L128M		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	128	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		CTCCACCTACTTGGTGAACCA	0.502000													19	73					0	0	0.007413	0	0
SYNJ1	8867	broad.mit.edu	37	21	34029187	34029187	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr21:34029187C>T	ENST00000382499.2	-	21	2721	c.2722G>A	c.(2722-2724)Gat>Aat	p.D908N	SYNJ1_ENST00000433931.2_Missense_Mutation_p.D908N|SYNJ1_ENST00000357345.3_Missense_Mutation_p.D869N|SYNJ1_ENST00000322229.7_Missense_Mutation_p.D869N|SYNJ1_ENST00000382491.3_Missense_Mutation_p.D864N|SYNJ1_ENST00000464778.1_5'UTR	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	869	Pro-rich.|RRM.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TCAAATATATCTATATCAATC	0.343000													6	34					0	0	0.001984	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129070697	129070697	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr5:129070697G>T	ENST00000274487.4	+	22	3512	c.3367G>T	c.(3367-3369)Gga>Tga	p.G1123*	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1123	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGGAAGACATGGAAATGAATG	0.408000													23	46					1.55469e-16	2.36314e-16	0.018920	1	0
NLRP12	91662	broad.mit.edu	37	19	54314216	54314216	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:54314216C>A	ENST00000324134.6	-	3	865	c.697G>T	c.(697-699)Gac>Tac	p.D233Y	NLRP12_ENST00000391772.1_Missense_Mutation_p.D233Y|NLRP12_ENST00000351894.4_Missense_Mutation_p.D233Y|NLRP12_ENST00000345770.5_Missense_Mutation_p.D233Y|NLRP12_ENST00000391775.3_Missense_Mutation_p.D233Y|NLRP12_ENST00000354278.3_Missense_Mutation_p.D233Y|NLRP12_ENST00000535162.1_Missense_Mutation_p.D233Y|NLRP12_ENST00000391773.1_Missense_Mutation_p.D233Y	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	233	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCGCCCAGTCCAGCATCACC	0.582000													15	55					1.3612e-06	1.65402e-06	0.003163	1	0
NLRP12	91662	broad.mit.edu	37	19	54314237	54314237	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:54314237G>C	ENST00000324134.6	-	3	844	c.676C>G	c.(676-678)Ctg>Gtg	p.L226V	NLRP12_ENST00000391772.1_Missense_Mutation_p.L226V|NLRP12_ENST00000351894.4_Missense_Mutation_p.L226V|NLRP12_ENST00000345770.5_Missense_Mutation_p.L226V|NLRP12_ENST00000391775.3_Missense_Mutation_p.L226V|NLRP12_ENST00000354278.3_Missense_Mutation_p.L226V|NLRP12_ENST00000535162.1_Missense_Mutation_p.L226V|NLRP12_ENST00000391773.1_Missense_Mutation_p.L226V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	226	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTGTGTGCCAGCATGGACTTG	0.582000													16	68					0	0	0.007413	0	0
E2F2	1870	broad.mit.edu	37	1	23850945	23850945	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr1:23850945C>G	ENST00000361729.2	-	2	714	c.288G>C	c.(286-288)agG>agC	p.R96S		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	96	Cyclin A/CDK2 binding (Potential).				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GGACGACGGGCCTCCCAATCC	0.572000													5	34					0	0	0.003080	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128958005	128958005	+	Silent	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr5:128958005T>C	ENST00000274487.4	+	10	1861	c.1716T>C	c.(1714-1716)ctT>ctC	p.L572L	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	572	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCCAGATCCTTTTTGGGCCAT	0.448000													7	25					0	0	0.001984	0	0
NFE2L3	9603	broad.mit.edu	37	7	26217588	26217588	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:26217588A>G	ENST00000056233.3	+	2	855	c.596A>G	c.(595-597)cAc>cGc	p.H199R		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	199					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AGAGAAAAGCACGAAGCTGTG	0.393000													12	58					0	0	0.016723	0	0
USP28	57646	broad.mit.edu	37	11	113683178	113683178	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr11:113683178C>A	ENST00000003302.4	-	16	1860	c.1792G>T	c.(1792-1794)Gct>Tct	p.A598S	USP28_ENST00000545540.1_Missense_Mutation_p.A473S|USP28_ENST00000544967.1_Missense_Mutation_p.A306S|USP28_ENST00000260188.5_Missense_Mutation_p.A598S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	598					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TAGTGTCCAGCATTTGCTTGT	0.433000													25	86					4.06085e-26	6.45413e-26	0.007291	1	0
MCF2	4168	broad.mit.edu	37	X	138670521	138670521	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:138670521G>T	ENST00000520602.1	-	24	2912	c.2627C>A	c.(2626-2628)aCa>aAa	p.T876K	MCF2_ENST00000370573.4_Missense_Mutation_p.T816K|MCF2_ENST00000370576.4_Missense_Mutation_p.T816K|MCF2_ENST00000338585.6_Missense_Mutation_p.T832K|MCF2_ENST00000370578.4_Missense_Mutation_p.T961K|MCF2_ENST00000519895.1_Missense_Mutation_p.T892K|MCF2_ENST00000536274.1_Missense_Mutation_p.T777K|MCF2_ENST00000414978.1_Missense_Mutation_p.T876K			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	816					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GAATTTACCTGTCAAAAGTTC	0.328000													10	39					2.17888e-05	2.56555e-05	0.006214	1	0
SNRPN	6638	broad.mit.edu	37	15	25222052	25222052	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr15:25222052G>T	ENST00000444203.2	+	5	1347	c.308G>T	c.(307-309)gGa>gTa	p.G103V	SNRPN_ENST00000554227.2_Missense_Mutation_p.G103V|SNRPN_ENST00000390687.4_Missense_Mutation_p.G99V|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000346403.6_Missense_Mutation_p.G99V|SNRPN_ENST00000577565.1_Missense_Mutation_p.G99V|SNRPN_ENST00000400097.1_Missense_Mutation_p.G99V|SNRPN_ENST00000400098.1_Missense_Mutation_p.G99V|SNRPN_ENST00000400100.1_Missense_Mutation_p.G99V			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	99					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CCACTTGCTGGAGCTGCTGGA	0.512000									Prader-Willi syndrome				14	75					1.99824e-07	2.51585e-07	0.004990	1	0
ALPK1	80216	broad.mit.edu	37	4	113356374	113356374	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr4:113356374G>T	ENST00000458497.1	+	12	3384	c.3105G>T	c.(3103-3105)ggG>ggT	p.G1035G	ALPK1_ENST00000177648.9_Silent_p.G1035G|ALPK1_ENST00000504176.2_Silent_p.G957G	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1035	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TCTATTTGGGGGACTACTTGA	0.348000													42	127					6.33695e-27	1.01101e-26	0.007835	1	0
ABCB7	22	broad.mit.edu	37	X	74282246	74282246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:74282246C>T	ENST00000253577.3	-	14	1879	c.1855G>A	c.(1855-1857)Gca>Aca	p.A619T	ABCB7_ENST00000339447.4_Missense_Mutation_p.A578T|ABCB7_ENST00000373394.3_Missense_Mutation_p.A618T	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	618	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CTTGCAATTGCTACTCTTTGC	0.353000													8	49					0	0	0.004482	0	0
SORCS1	114815	broad.mit.edu	37	10	108389130	108389130	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr10:108389130G>C	ENST00000263054.6	-	19	2499	c.2492C>G	c.(2491-2493)aCa>aGa	p.T831R	SORCS1_ENST00000344440.6_Missense_Mutation_p.T831R|SORCS1_ENST00000369698.1_Missense_Mutation_p.T366R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	831	PKD.					integral to membrane	neuropeptide receptor activity|protein binding			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)		TTGGATGAGTGTCCGCTGAAC	0.507000													5	25					0	0	0.001984	0	0
C7orf62	219557	broad.mit.edu	37	7	88423800	88423800	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:88423800C>A	ENST00000297203.2	-	2	642	c.457G>T	c.(457-459)Gtt>Ttt	p.V153F	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	153										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						ATAACTGGAACTTTTATCACT	0.348000													12	58					6.40141e-05	7.39168e-05	0.010729	1	0
CUL4B	8450	broad.mit.edu	37	X	119694442	119694442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:119694442G>A	ENST00000371322.5	-	1	113	c.52C>T	c.(52-54)Cag>Tag	p.Q18*	CUL4B_ENST00000336592.6_Nonsense_Mutation_p.Q23*|CUL4B_ENST00000404115.3_Nonsense_Mutation_p.Q36*	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	36	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGACCTCCTGAGCAGCAGCA	0.507000													5	16					0	0	0.014758	0	0
UNC93A	54346	broad.mit.edu	37	6	167708043	167708043	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr6:167708043G>T	ENST00000230256.3	+	2	301	c.126G>T	c.(124-126)gcG>gcT	p.A42A	UNC93A_ENST00000366829.2_Silent_p.A42A|UNC93A_ENST00000366830.2_3'UTR	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	42						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GTGTCACAGCGCTCAGCACCC	0.617000													102	114					3.71036e-49	6.01136e-49	0.014410	1	0
NRBP1	29959	broad.mit.edu	37	2	27663754	27663754	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:27663754C>T	ENST00000233557.3	+	15	2108	c.1276C>T	c.(1276-1278)Ccc>Tcc	p.P426S	NRBP1_ENST00000379852.3_Missense_Mutation_p.P426S|NRBP1_ENST00000379863.3_Missense_Mutation_p.P434S			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	426					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ACCTGTCGTGCCCCCCTCTGT	0.602000													12	76					0	0	0.010729	0	0
SGCZ	137868	broad.mit.edu	37	8	14095184	14095184	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr8:14095184C>A	ENST00000382080.1	-	4	1056	c.341G>T	c.(340-342)aGt>aTt	p.S114I	SGCZ_ENST00000421524.2_Missense_Mutation_p.S67I	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	101					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GACCAGCGGACTATCCTGGGA	0.353000													56	162					1.51943e-15	2.27642e-15	0.014410	1	0
LPAR5	57121	broad.mit.edu	37	12	6729716	6729716	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr12:6729716C>T	ENST00000329858.4	-	2	1455	c.699G>A	c.(697-699)gtG>gtA	p.V233V	LPAR5_ENST00000431922.1_Silent_p.V233V|LPAR5_ENST00000540335.1_5'UTR	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	233						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						GCAGGAGGCGCACGGTCTTCC	0.697000													4	5					0	0	0.009096	0	0
UPRT	139596	broad.mit.edu	37	X	74494242	74494242	+	Silent	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:74494242C>A	ENST00000373379.1	+	1	318	c.153C>A	c.(151-153)ctC>ctA	p.L51L	UPRT_ENST00000373383.4_Silent_p.L51L|UPRT_ENST00000531704.1_3'UTR			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	51					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						AGGTGATTCTCCTCACGGGGT	0.632000													6	32					5.9392e-07	7.34493e-07	0.001168	1	0
PCLO	27445	broad.mit.edu	37	7	82585852	82585852	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:82585852C>T	ENST00000423517.2	-	5	4754	c.4417G>A	c.(4417-4419)Gaa>Aaa	p.E1473K	PCLO_ENST00000333891.8_Missense_Mutation_p.E1473K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1404					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCCTTTCTTCTTGACTCTCT	0.363000													9	47					0	0	0.006214	0	0
SNHG14	104472715	broad.mit.edu	37	15	25307570	25307570	+	RNA	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr15:25307570G>A	ENST00000549804.2	+	0	397				SNORD116-5_ENST00000384462.1_RNA																							TCAGAACTGAGGTCCAGCACG	0.507000													12	93					0	0	0.020292	0	0
ZNF157	7712	broad.mit.edu	37	X	47272115	47272115	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:47272115G>C	ENST00000377073.3	+	4	729	c.643G>C	c.(643-645)Gag>Cag	p.E215Q		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	215					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TCACACAGGGGAGAGGCCCTT	0.443000													13	38					0	0	0.013537	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161609	90161609	+	RNA	SNP	A	A	G	rs139928438	by1000genomes	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr16:90161609A>G	ENST00000564451.1	+	0	962				TUBB8P7_ENST00000567960.1_RNA																							TGATGGAGTCAGTGATGGACG	0.617000													3	60					0	0	0.009096	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70523356	70523356	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:70523356G>A	ENST00000538820.1	+	5	744	c.404G>A	c.(403-405)gGa>gAa	p.G135E	ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.G153E			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	153					muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					CAGAACCCAGGATGTGATGCT	0.512000													19	89					0	0	0.012319	0	0
OR4C6	219432	broad.mit.edu	37	11	55432837	55432837	+	Silent	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr11:55432837C>A	ENST00000314259.3	+	1	224	c.195C>A	c.(193-195)tcC>tcA	p.S65S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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						CCTTCTTGTCCCTTTTGGATG	0.448000													21	93					2.4624e-09	3.35271e-09	0.008871	1	0
FAM47B	170062	broad.mit.edu	37	X	34962805	34962805	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:34962805C>G	ENST00000329357.5	+	1	1893	c.1857C>G	c.(1855-1857)gaC>gaG	p.D619E		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	619										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGACTTACGACTCTGTTAAGA	0.403000													29	162					0	0	0.007291	0	0
TCERG1	10915	broad.mit.edu	37	5	145838779	145838779	+	Silent	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr5:145838779A>G	ENST00000296702.5	+	4	809	c.771A>G	c.(769-771)ggA>ggG	p.G257G	TCERG1_ENST00000394421.2_Silent_p.G257G	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	257	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCAGTTGGAGCTTCCACCC	0.587000													3	115					0	0	0.004672	0	0
ZNF528	84436	broad.mit.edu	37	19	52919017	52919017	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:52919017G>T	ENST00000360465.3	+	7	1338	c.912G>T	c.(910-912)aaG>aaT	p.K304N	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AATGTGACAAGGTCTTCAATC	0.383000													11	61					3.86212e-05	4.49684e-05	0.008291	1	0
EHD3	30845	broad.mit.edu	37	2	31483477	31483477	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:31483477G>T	ENST00000322054.5	+	4	889	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	202					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TGAGTTCTCAGAAGTCATCAA	0.537000													17	39					1.99824e-07	2.51585e-07	0.004990	1	0
LRRK2	120892	broad.mit.edu	37	12	40740560	40740560	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr12:40740560C>T	ENST00000298910.7	+	42	6173	c.6115C>T	c.(6115-6117)Cgt>Tgt	p.R2039C		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2039	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCAGGGTTTCGTGCACCTGA	0.383000													4	26					0	0	0.009096	0	0
EYS	346007	broad.mit.edu	37	6	66094281	66094281	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr6:66094281T>C	ENST00000503581.1	-	8	1834	c.1297A>G	c.(1297-1299)Aaa>Gaa	p.K433E	EYS_ENST00000370616.2_Missense_Mutation_p.K433E|EYS_ENST00000370621.3_Missense_Mutation_p.K433E|EYS_ENST00000342421.5_Missense_Mutation_p.K433E|EYS_ENST00000370618.3_Missense_Mutation_p.K433E|EYS_ENST00000393380.2_Missense_Mutation_p.K433E	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	433					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTACTTACTTTGAATCTTCCA	0.318000													8	32					0	0	0.003080	0	0
MRC1	4360	broad.mit.edu	37	10	17865310	17865310	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr10:17865310G>A	ENST00000331429.2	+	2	402	c.299G>A	c.(298-300)tGg>tAg	p.W100*	MRC1L1_ENST00000457317.1_Nonsense_Mutation_p.W100*																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTTCAGAAATGGGAGTGCAAA	0.388000													19	93					0	0	0.006999	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890950	32890950	+	RNA	SNP	A	A	G	rs151263854	by1000genomes	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr16:32890950A>G	ENST00000330048.5	-	0	3016					NR_003083.2																						ATACACCCAGACCACCACCAC	0.637000													4	32					0	0	0.004482	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134503939	134503939	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr9:134503939C>T	ENST00000372195.1	-	8	1257	c.1014G>A	c.(1012-1014)agG>agA	p.R338R	RAPGEF1_ENST00000372189.3_Silent_p.R321R|RAPGEF1_ENST00000372190.3_Silent_p.R339R|RAPGEF1_ENST00000481260.1_5'UTR			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	321					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCATTACCTGCCTATTGATTC	0.612000													13	31					0	0	0.013537	0	0
CUX1	1523	broad.mit.edu	37	7	101813749	101813749	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:101813749G>A	ENST00000360264.3	+	10	800	c.780G>A	c.(778-780)gaG>gaA	p.E260E	CUX1_ENST00000549414.2_Silent_p.E249E|CUX1_ENST00000556210.1_Silent_p.E249E|CUX1_ENST00000437600.4_Silent_p.E260E|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292538.4_Silent_p.E260E|CUX1_ENST00000425244.2_Silent_p.E214E|CUX1_ENST00000550008.2_Silent_p.E249E|CUX1_ENST00000547394.2_Silent_p.E244E|CUX1_ENST00000546411.2_Silent_p.E249E|CUX1_ENST00000292535.7_Silent_p.E249E|CUX1_ENST00000393824.3_Silent_p.E223E	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	249					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CTCAGAGAGAGGCGGAGACCT	0.517000													3	4					0	0	0.004672	0	0
SRPK3	26576	broad.mit.edu	37	X	153049747	153049747	+	Splice_Site	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:153049747A>T	ENST00000489426.1	+	17	3714		c.e17-1		SRPK3_ENST00000370104.1_Splice_Site|SRPK3_ENST00000370108.3_Splice_Site|SRPK3_ENST00000370100.1_Splice_Site|SRPK3_ENST00000370101.3_Splice_Site|SRPK3_ENST00000393786.3_Splice_Site			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3						cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCCTTCCCCAGCACCATTCG	0.612000													12	56					0	0	0.010729	0	0
GRM3	2913	broad.mit.edu	37	7	86468529	86468529	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:86468529G>T	ENST00000361669.2	+	4	2798	c.1699G>T	c.(1699-1701)Gag>Tag	p.E567*	GRM3_ENST00000546348.1_Nonsense_Mutation_p.E159*|GRM3_ENST00000536043.1_Nonsense_Mutation_p.E439*|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	567					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGACCTTCCTGAGGACTACAT	0.498000													15	91					7.93312e-07	9.72447e-07	0.020292	1	0
IL13RA1	3597	broad.mit.edu	37	X	117880977	117880977	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:117880977C>A	ENST00000371666.3	+	3	356	c.289C>A	c.(289-291)Caa>Aaa	p.Q97K	IL13RA1_ENST00000371642.1_Missense_Mutation_p.Q97K	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	97						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						GATTTGTCTGCAAGTGGGGTC	0.438000													16	85					1.15088e-07	1.46667e-07	0.004007	1	0
C11orf82	220042	broad.mit.edu	37	11	82644765	82644765	+	Silent	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr11:82644765T>A	ENST00000533655.1	+	6	2597	c.2385T>A	c.(2383-2385)ccT>ccA	p.P795P	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Silent_p.P795P|C11orf82_ENST00000329143.3_Silent_p.P494P|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	795			P -> R (in dbSNP:rs11826199).		apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TCAAAAAACCTGTATTTTATT	0.343000													9	33					0	0	0.004482	0	0
EHMT1	79813	broad.mit.edu	37	9	140611505	140611505	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr9:140611505G>A	ENST00000460843.1	+	3	540	c.513G>A	c.(511-513)acG>acA	p.T171T	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Silent_p.T171T|EHMT1_ENST00000334856.6_Silent_p.T140T	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	171					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TTCCCCAGACGCCAGCCGCCC	0.662000													36	47					0	0	0.017118	0	0
GP6	51206	broad.mit.edu	37	19	55538970	55538970	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:55538970C>A	ENST00000310373.3	-	4	613	c.586G>T	c.(586-588)Gac>Tac	p.D196Y	CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|GP6_ENST00000417454.1_Missense_Mutation_p.D196Y|GP6_ENST00000333884.2_Missense_Mutation_p.D196Y	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	196	Ig-like C2-type 2.				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		TCCAGGGGGTCGCTGGGGGCT	0.587000													7	98					1.06961e-07	1.37147e-07	0.003080	1	0
ZCCHC12	170261	broad.mit.edu	37	X	117959998	117959998	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:117959998T>C	ENST00000310164.2	+	4	1298	c.791T>C	c.(790-792)aTa>aCa	p.I264T		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						TGCAATGTGATAGAGATAGAT	0.567000													12	82					0	0	0.016723	0	0
RRAGB	10325	broad.mit.edu	37	X	55784705	55784705	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:55784705C>A	ENST00000374941.4	+	10	1559	c.970C>A	c.(970-972)Cgc>Agc	p.R324S	RRAGB_ENST00000262850.7_Missense_Mutation_p.R352S	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	352					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GATCAACATCCGCAATGCCAG	0.443000													9	38					0.000442599	0.000497329	0.006214	1	0
PHKA2	5256	broad.mit.edu	37	X	18919705	18919705	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:18919705G>T	ENST00000379942.4	-	27	3590	c.2925C>A	c.(2923-2925)tcC>tcA	p.S975S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	975					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGGATGTGGAGGAGTGGATAG	0.557000													11	41					4.68919e-08	6.04963e-08	0.008291	1	0
FNDC3A	22862	broad.mit.edu	37	13	49777296	49777296	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr13:49777296C>T	ENST00000492622.2	+	25	3463	c.3158C>T	c.(3157-3159)cCc>cTc	p.P1053L	FNDC3A_ENST00000541916.1_Missense_Mutation_p.P1053L|FNDC3A_ENST00000398316.3_Missense_Mutation_p.P997L	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1053	Fibronectin type-III 9.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CCTACAGCCCCCAAAATAGAG	0.303000													5	24					0	0	0.014758	0	0
CABP1	9478	broad.mit.edu	37	12	121093779	121093779	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr12:121093779C>T	ENST00000453000.1	+	1	678	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	CABP1_ENST00000316803.3_Intron|CABP1_ENST00000288616.3_Intron|CABP1_ENST00000351200.2_Intron			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	31						cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCTGAACCCCGCTCCTTGAC	0.592000													3	6					0	0	0.004672	0	0
PHEX	5251	broad.mit.edu	37	X	22129609	22129609	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:22129609G>C	ENST00000379374.4	+	10	1669	c.1104G>C	c.(1102-1104)tgG>tgC	p.W368C	PHEX_ENST00000418858.3_Missense_Mutation_p.W71C|PHEX_ENST00000535894.1_Missense_Mutation_p.W271C|PHEX_ENST00000537599.1_Missense_Mutation_p.W368C	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	368					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						ATTTGGTGTGGAGAATGGTTT	0.398000													42	201					0	0	0.010771	0	0
AHNAK	79026	broad.mit.edu	37	11	62297865	62297865	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr11:62297865C>A	ENST00000378024.4	-	5	4298	c.4024G>T	c.(4024-4026)Gat>Tat	p.D1342Y	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1342					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAGGACACATCCACATCTCCC	0.478000													55	233					5.39261e-20	8.34856e-20	0.014410	1	0
PMS1	5378	broad.mit.edu	37	2	190718963	190718963	+	Splice_Site	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:190718963A>G	ENST00000441310.2	+	9	1199		c.e9-1		PMS1_ENST00000418224.3_Splice_Site|PMS1_ENST00000409823.3_Splice_Site|PMS1_ENST00000421722.1_Splice_Site|PMS1_ENST00000447232.2_Splice_Site|PMS1_ENST00000432292.3_Splice_Site	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)						mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TTGTATTTTTAGGAATCTGTT	0.234000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					4	30					0	0	0.009096	0	0
TRIP10	9322	broad.mit.edu	37	19	6746509	6746509	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:6746509G>A	ENST00000600428.1	+	10	1353	c.707G>A	c.(706-708)cGa>cAa	p.R236Q	TRIP10_ENST00000313244.9_Missense_Mutation_p.R400Q|TRIP10_ENST00000596758.1_Missense_Mutation_p.R344Q|TRIP10_ENST00000313285.8_Missense_Mutation_p.R344Q			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	354	Induction of membrane tubulation.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GAGCAGCAGCGAAAACGGCTT	0.547000													10	75					0	0	0.013537	0	0
C10orf12	26148	broad.mit.edu	37	10	98743264	98743264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr10:98743264C>T	ENST00000286067.2	+	1	2224	c.2117C>T	c.(2116-2118)tCg>tTg	p.S706L		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	706										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CTTGGGTTGTCGAGTAGTGGA	0.507000													12	48					0	0	0.013537	0	0
NKX6-1	4825	broad.mit.edu	37	4	85414622	85414622	+	Silent	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr4:85414622C>G	ENST00000295886.4	-	3	1145	c.924G>C	c.(922-924)tcG>tcC	p.S308S	NKX6-1_ENST00000515820.2_Silent_p.S34S	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	308	Involved in DNA-binding (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		GCTCTGTCTCCGAGTCCTGCT	0.597000													40	67					0	0	0.007835	0	0
SYT16	83851	broad.mit.edu	37	14	62547851	62547851	+	Silent	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr14:62547851T>C	ENST00000430451.2	+	4	1490	c.1293T>C	c.(1291-1293)tgT>tgC	p.C431C	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	431	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGGCTGCCTGTGCTGTCCGCT	0.572000													6	23					0	0	0.001168	0	0
OR10A7	121364	broad.mit.edu	37	12	55615641	55615641	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr12:55615641A>G	ENST00000326258.1	+	1	833	c.833A>G	c.(832-834)tAc>tGc	p.Y278C		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCATTGTCCTACACTGTCATC	0.493000													19	54					0	0	0.007413	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20495403	20495403	+	RNA	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr15:20495403G>T	ENST00000555186.1	+	0	606					NR_038836.1																						GATCTTCTGTGTGAGGAAAAT	0.398000													9	78					0.00448238	0.004892	0.004482	1	0
CHP2	63928	broad.mit.edu	37	16	23767219	23767219	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr16:23767219C>T	ENST00000300113.2	+	3	615	c.192C>T	c.(190-192)gaC>gaT	p.D64D		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	64							calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		CCCTGGGAGACCGAATTATAG	0.592000													4	46					0	0	0.014758	0	0
RGAG1	57529	broad.mit.edu	37	X	109695144	109695144	+	Silent	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:109695144C>G	ENST00000465301.2	+	3	1545	c.1299C>G	c.(1297-1299)gcC>gcG	p.A433A	RGAG1_ENST00000540313.1_Silent_p.A433A	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	433										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CAGTTCCAGCCTCTGGAGCCA	0.512000													34	227					0	0	0.013726	0	0
DPPA2	151871	broad.mit.edu	37	3	109031461	109031461	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr3:109031461C>T	ENST00000478945.1	-	3	358	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	38						nucleus	nucleic acid binding	p.E38K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCATTTGTTCCATATTTGCG	0.418000													23	83					0	0	0.012319	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158752	26158752	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr6:26158752G>T	ENST00000289316.2	+	1	379	c.355G>T	c.(355-357)Gtc>Ttc	p.V119F	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.V119F	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	119					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						CACCAAGGCCGTCACCAAGTA	0.552000													23	68					2.21704e-12	3.15211e-12	0.016522	1	0
KEAP1	9817	broad.mit.edu	37	19	10602622	10602622	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:10602622C>A	ENST00000171111.5	-	3	1503	c.956G>T	c.(955-957)tGc>tTc	p.C319F	KEAP1_ENST00000393623.2_Missense_Mutation_p.C319F|KEAP1_ENST00000588024.1_Intron	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GGGCGCCCGGCAGGGCATCAC	0.642000													14	34					9.31168e-06	1.11208e-05	0.016723	1	0
PIKFYVE	200576	broad.mit.edu	37	2	209207340	209207340	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:209207340A>G	ENST00000264380.4	+	32	5152	c.4994A>G	c.(4993-4995)aAg>aGg	p.K1665R		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1665					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			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						GTCTGCGAGAAGGAACCCAGC	0.343000													10	51					0	0	0.008291	0	0
COL6A3	1293	broad.mit.edu	37	2	238242141	238242141	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:238242141T>C	ENST00000295550.4	-	42	9732	c.9280A>G	c.(9280-9282)Acc>Gcc	p.T3094A	COL6A3_ENST00000347401.3_Missense_Mutation_p.T2893A|COL6A3_ENST00000409809.1_Missense_Mutation_p.T2888A|COL6A3_ENST00000346358.4_Missense_Mutation_p.T2894A|COL6A3_ENST00000472056.1_Missense_Mutation_p.T2487A|COL6A3_ENST00000353578.4_Missense_Mutation_p.T2888A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3094	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			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)		AGATTGATGGTTGAACTAGAA	0.423000													13	65					0	0	0.004007	0	0
SMPD3	55512	broad.mit.edu	37	16	68395622	68395622	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr16:68395622A>T	ENST00000219334.5	-	8	2353	c.1750T>A	c.(1750-1752)Ttt>Att	p.F584I	SMPD3_ENST00000568373.1_Intron|SMPD3_ENST00000563226.1_Missense_Mutation_p.F576I	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	584					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CTGGTGGGAAACGCCAGGTAC	0.682000													20	57					0	0	0.007413	0	0
VPS13C	54832	broad.mit.edu	37	15	62217667	62217667	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr15:62217667T>G	ENST00000261517.5	-	53	6670	c.6597A>C	c.(6595-6597)gaA>gaC	p.E2199D	VPS13C_ENST00000249837.3_Missense_Mutation_p.E2156D|VPS13C_ENST00000395898.3_Missense_Mutation_p.E2156D|VPS13C_ENST00000395896.4_Missense_Mutation_p.E2199D	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2199					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TAATTATAAATTCTTTAACCA	0.294000													3	5					0	0	0.004672	0	0
ZNF114	163071	broad.mit.edu	37	19	48785741	48785741	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:48785741C>T	ENST00000595607.1	+	5	617	c.123C>T	c.(121-123)aaC>aaT	p.N41N	ZNF114_ENST00000600687.1_Silent_p.N41N|ZNF114_ENST00000315849.1_Silent_p.N41N|ZNF114_ENST00000597695.1_Silent_p.N7N			Q8NC26	ZN114_HUMAN	zinc finger protein 114	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		ATTCTAGGAACTTGGCATTCA	0.527000													13	113					0	0	0.016723	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507088	74507088	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr1:74507088G>T	ENST00000354431.4	-	7	1718	c.1527C>A	c.(1525-1527)tcC>tcA	p.S509S	LRRIQ3_ENST00000395089.1_Silent_p.S509S	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	509										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AAGCCTTTTGGGATTTTTCTT	0.363000													7	96					2.7689e-08	3.61687e-08	0.001984	1	0
BAI3	577	broad.mit.edu	37	6	69684742	69684742	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr6:69684742C>T	ENST00000370598.1	+	9	2434	c.1613C>T	c.(1612-1614)cCc>cTc	p.P538L		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	538					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATCAATGTCCCCTGAATGCC	0.443000													13	33					0	0	0.016723	0	0
PMFBP1	83449	broad.mit.edu	37	16	72188257	72188257	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr16:72188257T>A	ENST00000537465.1	-	4	425	c.267A>T	c.(265-267)aaA>aaT	p.K89N	PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000237353.10_Missense_Mutation_p.K89N|PMFBP1_ENST00000543746.1_5'UTR			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	89										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GGACCAGCAATTTTTTCTTCA	0.453000													17	88					0	0	0.004007	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206646	142206646	+	RNA	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:142206646G>T	ENST00000426318.2	-	0	259																											AATATCAGCAGCTGCTGAGTA	0.507000													35	128					1.56738e-10	2.18388e-10	0.019004	1	0
EYS	346007	broad.mit.edu	37	6	66044934	66044934	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr6:66044934C>T	ENST00000503581.1	-	11	2242	c.1705G>A	c.(1705-1707)Gat>Aat	p.D569N	EYS_ENST00000370616.2_Missense_Mutation_p.D569N|EYS_ENST00000370621.3_Missense_Mutation_p.D569N|EYS_ENST00000342421.5_Missense_Mutation_p.D569N|EYS_ENST00000370618.3_Missense_Mutation_p.D569N|EYS_ENST00000393380.2_Missense_Mutation_p.D569N	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	569	EGF-like 6.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCTTGATCATCAGTTGTATTT	0.353000													5	58					0	0	0.001168	0	0
KANSL3	55683	broad.mit.edu	37	2	97278597	97278597	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:97278597G>A	ENST00000599854.1	-	7	1076	c.609C>T	c.(607-609)cgC>cgT	p.R203R	KANSL3_ENST00000431828.1_Silent_p.R290R|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000441706.2_Silent_p.R203R|KANSL3_ENST00000440133.1_Silent_p.R84R	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	290																	AGCGGTGGCGGCGTGAAGTGG	0.552000													3	4					0	0	0.014758	0	0
NR0B1	190	broad.mit.edu	37	X	30327463	30327463	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:30327463G>A	ENST00000378970.4	-	1	252	c.18C>T	c.(16-18)caC>caT	p.H6H	NR0B1_ENST00000453287.1_Silent_p.H6H	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	6	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CCTGCCACTGGTGGTTCTCGC	0.662000													6	14					0	0	0.001168	0	0
PSME4	23198	broad.mit.edu	37	2	54117299	54117299	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:54117299A>T	ENST00000404125.1	-	37	4293	c.4238T>A	c.(4237-4239)cTg>cAg	p.L1413Q	PSME4_ENST00000421748.2_Missense_Mutation_p.L557Q	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1413					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AATATTGGACAGTGCTGTTCT	0.388000													26	119					0	0	0.006320	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090898	91090898	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:91090898T>C	ENST00000373094.1	+	1	1240	c.395T>C	c.(394-396)aTa>aCa	p.I132T	PCDH11X_ENST00000361724.1_Missense_Mutation_p.I132T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.I132T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.I132T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.I132T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.I132T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.I132T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.I132T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.I132T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	132	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			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						ATAGAAGATATAAATGATAAT	0.388000													13	51					0	0	0.007413	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650773	75650773	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:75650773G>T	ENST00000361470.2	+	1	2728	c.2450G>T	c.(2449-2451)cGa>cTa	p.R817L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	817	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGTACAACCGAAGGGAGATG	0.488000													10	52					6.40141e-05	7.39168e-05	0.010729	1	0
TACC1	6867	broad.mit.edu	37	8	38688648	38688648	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr8:38688648G>A	ENST00000379931.3	+	7	2081	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	TACC1_ENST00000520611.1_5'UTR|TACC1_ENST00000520973.1_Missense_Mutation_p.E332K|TACC1_ENST00000519416.1_Missense_Mutation_p.E360K|TACC1_ENST00000348567.4_Missense_Mutation_p.E118K|TACC1_ENST00000443286.2_Missense_Mutation_p.E543K|TACC1_ENST00000520615.1_Missense_Mutation_p.E361K|TACC1_ENST00000276520.8_Missense_Mutation_p.E146K|TACC1_ENST00000520340.1_Missense_Mutation_p.E491K|TACC1_ENST00000330691.6_Missense_Mutation_p.E130K|TACC1_ENST00000518415.1_Missense_Mutation_p.E482K|TACC1_ENST00000522752.1_3'UTR|TACC1_ENST00000317827.4_Missense_Mutation_p.E556K			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	556					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CTTAGGCATAGAGAAGGAGAC	0.483000													9	29					0	0	0.006214	0	0
ABCB1	5243	broad.mit.edu	37	7	87135257	87135257	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:87135257G>C	ENST00000265724.3	-	28	4009	c.3592C>G	c.(3592-3594)Ctt>Gtt	p.L1198V	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.L1134V	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1198	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TCATCCAAAAGCAAAATATGA	0.418000													10	36					0	0	0.006214	0	0
CDCA7L	55536	broad.mit.edu	37	7	21942677	21942677	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:21942677C>A	ENST00000406877.3	-	9	1532	c.1253G>T	c.(1252-1254)cGt>cTt	p.R418L	CDCA7L_ENST00000373934.4_Missense_Mutation_p.R372L|CDCA7L_ENST00000356195.5_Missense_Mutation_p.R384L	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	418					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GCGGCCGTCACGCTTCCGACA	0.493000													9	39					0.000442599	0.000497329	0.006214	1	0
FOXJ2	55810	broad.mit.edu	37	12	8192621	8192621	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr12:8192621G>T	ENST00000162391.3	+	2	1338	c.193G>T	c.(193-195)Ggc>Tgc	p.G65C	FOXJ2_ENST00000428177.2_Missense_Mutation_p.G65C	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	65					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GCACCAGGACGGCAAGCCACG	0.582000													18	73					1.78486e-19	2.75304e-19	0.007413	1	0
ZNF280A	129025	broad.mit.edu	37	22	22868532	22868532	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr22:22868532G>C	ENST00000302097.3	-	2	1675	c.1423C>G	c.(1423-1425)Caa>Gaa	p.Q475E		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTAAATGTTTGATGGTCCTTG	0.458000													27	83					0	0	0.005443	0	0
WNT5A	7474	broad.mit.edu	37	3	55513456	55513456	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr3:55513456T>C	ENST00000474267.1	-	4	798	c.277A>G	c.(277-279)Atc>Gtc	p.I93V	WNT5A_ENST00000497027.1_Missense_Mutation_p.I78V|WNT5A_ENST00000264634.4_Missense_Mutation_p.I93V			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	93					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CCTTCTCCGATGTACTGCATG	0.483000													31	81					0	0	0.012213	0	0
CNOT1	23019	broad.mit.edu	37	16	58612676	58612676	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr16:58612676G>C	ENST00000317147.5	-	13	1843	c.1511C>G	c.(1510-1512)tCc>tGc	p.S504C	CNOT1_ENST00000569240.1_Missense_Mutation_p.S504C|CNOT1_ENST00000441024.2_Missense_Mutation_p.S504C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	504					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CATCAGAGTGGAGATAAGTTC	0.448000													9	65					0	0	0.004482	0	0
CDH10	1008	broad.mit.edu	37	5	24511436	24511436	+	Splice_Site	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr5:24511436C>A	ENST00000264463.4	-	6	1509	c.1002_splice	c.e6+1	p.K334_splice		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	334	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGCTGTGCACCTTTTTCACAG	0.403000										HNSCC(23;0.051)			21	78					5.26018e-13	7.63456e-13	0.012319	1	0
AQP6	363	broad.mit.edu	37	12	50367220	50367220	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr12:50367220C>T	ENST00000315520.5	+	1	601	c.264C>T	c.(262-264)gcC>gcT	p.A88A	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	88					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						TGACGCTGGCCTTCCTCGTAG	0.657000													15	82					0	0	0.006320	0	0
MUC16	94025	broad.mit.edu	37	19	9010683	9010683	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:9010683G>C	ENST00000397910.4	-	38	39181	c.38978C>G	c.(38977-38979)aCc>aGc	p.T12993S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12995					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCCCTGAGGTCCCAAGGTC	0.512000													6	26					0	0	0.001168	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147259327	147259327	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:147259327G>T	ENST00000361727.3	+	12	2391	c.1875G>T	c.(1873-1875)ctG>ctT	p.L625L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	625	Fibrinogen C-terminal.				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			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)			TGGGGCCTCTGAAAGTTTACT	0.408000										HNSCC(39;0.1)			6	56					6.5536e-12	9.19263e-12	0.003080	1	0
GABRB1	2560	broad.mit.edu	37	4	47163453	47163453	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr4:47163453T>C	ENST00000295454.3	+	4	720	c.428T>C	c.(427-429)cTg>cCg	p.L143P	GABRB1_ENST00000538619.1_Missense_Mutation_p.L73P	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	143					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATGATTCGACTGCATCCTGAT	0.388000													18	92					0	0	0.006122	0	0
PTCHD4	442213	broad.mit.edu	37	6	48036085	48036085	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr6:48036085A>T	ENST00000543600.1	-	1	295	c.256T>A	c.(256-258)Tcg>Acg	p.S86T	PTCHD4_ENST00000339488.4_Missense_Mutation_p.S103T			Q6ZW05	CF138_HUMAN	patched domain containing 4	103						integral to membrane	hedgehog receptor activity										TGTAAGTCCGAATAGAGCTGG	0.627000													22	87					0	0	0.014323	0	0
ACAN	176	broad.mit.edu	37	15	89417692	89417692	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr15:89417692C>A	ENST00000439576.2	+	18	7947	c.7573C>A	c.(7573-7575)Cgc>Agc	p.R2525S	ACAN_ENST00000559004.1_Missense_Mutation_p.R2487S|ACAN_ENST00000561243.1_Missense_Mutation_p.R2525S|ACAN_ENST00000352105.7_Missense_Mutation_p.R2426S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2525					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCGGAGGAGCCGCCCCAGCAC	0.617000													4	13					0.00909568	0.00977376	0.009096	1	0
MED24	9862	broad.mit.edu	37	17	38184186	38184186	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr17:38184186T>A	ENST00000394126.1	-	14	1916	c.1498A>T	c.(1498-1500)Aca>Tca	p.T500S	MED24_ENST00000394127.2_Missense_Mutation_p.T462S|MED24_ENST00000501516.3_Missense_Mutation_p.T494S|MED24_ENST00000356271.3_Missense_Mutation_p.T462S|MED24_ENST00000394128.2_Missense_Mutation_p.T475S			O75448	MED24_HUMAN	mediator complex subunit 24	475					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CCATAGGTTGTGAATTCATTC	0.577000													4	130					0	0	0.009096	0	0
DNAH7	56171	broad.mit.edu	37	2	196825534	196825534	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:196825534T>C	ENST00000312428.6	-	18	2441	c.2341A>G	c.(2341-2343)Aga>Gga	p.R781G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	781	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTCCATGCTCTATAGTTGCTG	0.383000													32	122					0	0	0.010818	0	0
REG3G	130120	broad.mit.edu	37	2	79255021	79255021	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:79255021T>A	ENST00000272324.5	+	5	606	c.422T>A	c.(421-423)tTa>tAa	p.L141*	REG3G_ENST00000393897.2_Nonsense_Mutation_p.L141*|REG3G_ENST00000409471.1_Nonsense_Mutation_p.L95*	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	141	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCACCATCTTAAACCCTGGC	0.498000													20	94					0	0	0.008871	0	0
SLC5A1	6523	broad.mit.edu	37	22	32479071	32479071	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr22:32479071G>A	ENST00000266088.4	+	7	844	c.594G>A	c.(592-594)gcG>gcA	p.A198A	SLC5A1_ENST00000543737.1_Silent_p.A71A	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	198					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.A198A(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GGGGCCTGGCGGCGGTGATTT	0.572000													7	45					0	0	0.001984	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7506611	7506611	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:7506611G>T	ENST00000593531.1	+	5	488	c.488G>T	c.(487-489)tGt>tTt	p.C163F	ARHGEF18_ENST00000319670.9_Silent_p.L47L|ARHGEF18_ENST00000359920.6_Silent_p.L205L																							ATGACTCTCTGTCCCTTACAT	0.458000													27	96					2.12542e-12	3.053e-12	0.006320	1	0
OR2W1	26692	broad.mit.edu	37	6	29012922	29012922	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr6:29012922C>T	ENST00000377175.1	-	1	95	c.31G>A	c.(31-33)Ggt>Agt	p.G11S		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AGAATAAAACCATGTAAAGAA	0.403000													15	41					0	0	0.004990	0	0
SAA3P	6290	broad.mit.edu	37	11	18134287	18134287	+	RNA	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr11:18134287G>T	ENST00000534768.1	-	0	373					NR_026576.1															lung(2)	2						GTCTCTGGACGTTCTCTCTGG	0.562000													3	8					0.00909568	0.00977376	0.009096	1	0
TBC1D25	4943	broad.mit.edu	37	X	48418232	48418232	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:48418232G>A	ENST00000376771.4	+	6	1277	c.936G>A	c.(934-936)cgG>cgA	p.R312R	TBC1D25_ENST00000537536.1_Silent_p.R58R|TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000481090.1_3'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	312	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CACATCTACGGGCGCTGCACG	0.622000													9	37					0	0	0.004482	0	0
ITSN2	50618	broad.mit.edu	37	2	24484540	24484540	+	Silent	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:24484540T>A	ENST00000355123.4	-	21	2870	c.2427A>T	c.(2425-2427)ccA>ccT	p.P809P	ITSN2_ENST00000406921.3_Silent_p.P809P|ITSN2_ENST00000361999.3_Silent_p.P782P	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	809	SH3 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATAATTGCATGGAAACCAGC	0.368000													7	37					0	0	0.001984	0	0
ATP11C	286410	broad.mit.edu	37	X	138844238	138844238	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:138844238G>T	ENST00000370557.1	-	22	3540	c.2513C>A	c.(2512-2514)gCa>gAa	p.A838E	ATP11C_ENST00000370543.1_Missense_Mutation_p.A844E|ATP11C_ENST00000361648.2_Missense_Mutation_p.A844E|ATP11C_ENST00000359686.2_Missense_Mutation_p.A844E|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.A844E			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	844					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATTCCTAGCTGCTTGGCGACC	0.363000													27	136					3.1745e-13	4.62348e-13	0.008361	1	0
C9orf89	84270	broad.mit.edu	37	9	95872917	95872917	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr9:95872917G>T	ENST00000375464.2	+	3	346	c.218G>T	c.(217-219)gGt>gTt	p.G73V	C9orf89_ENST00000488630.1_3'UTR	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	73	CARD.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						CAGCGGAGCGGTGAGCGGGAC	0.642000													46	72					1.4659e-37	2.36582e-37	0.014410	1	0
DIP2A	23181	broad.mit.edu	37	21	47931456	47931456	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr21:47931456C>T	ENST00000318711.7	+	8	1217	c.1034C>T	c.(1033-1035)aCa>aTa	p.T345I	DIP2A_ENST00000417564.2_Missense_Mutation_p.T344I|DIP2A_ENST00000435722.3_Missense_Mutation_p.T344I|DIP2A_ENST00000400274.1_Missense_Mutation_p.T340I|DIP2A_ENST00000427143.2_Missense_Mutation_p.T280I|DIP2A_ENST00000466639.1_Missense_Mutation_p.T301I|DIP2A_ENST00000457905.3_Missense_Mutation_p.T344I	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	344					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CGCTGGGGCACAACACAGCCC	0.582000													6	26					0	0	0.001984	0	0
KIAA1024	23251	broad.mit.edu	37	15	79748907	79748907	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr15:79748907G>A	ENST00000305428.3	+	2	493	c.418G>A	c.(418-420)Gag>Aag	p.E140K		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	140						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CCTGAACTGTGAGCTGAGTGA	0.577000													9	82					0	0	0.004482	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150529140	150529140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr1:150529140G>A	ENST00000271643.4	+	10	1856	c.1620G>A	c.(1618-1620)tgG>tgA	p.W540*	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Nonsense_Mutation_p.W563*|ADAMTSL4_ENST00000369038.2_Nonsense_Mutation_p.W540*|ADAMTSL4_ENST00000369041.5_Nonsense_Mutation_p.W540*	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	540					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ATGGGAACTGGGCTGTGGATC	0.612000													16	147					0	0	0.004990	0	0
ATXN7	6314	broad.mit.edu	37	3	63898838	63898838	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr3:63898838G>A	ENST00000398590.3	+	4	884	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	ATXN7_ENST00000487717.1_Missense_Mutation_p.E111K|ATXN7_ENST00000295900.6_Missense_Mutation_p.E111K|ATXN7_ENST00000538065.1_Missense_Mutation_p.E111K	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	111					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CCTAGGGACAGAATTGGACGA	0.572000													8	25					0	0	0.004482	0	0
RPIA	22934	broad.mit.edu	37	2	88991474	88991474	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:88991474C>T	ENST00000283646.4	+	1	313	c.258C>T	c.(256-258)ggC>ggT	p.G86G		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	86					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				AGCTGGCGGGCCGCGCGGCTG	0.672000													5	15					0	0	0.014758	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518605	113518605	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:113518605A>G	ENST00000284601.3	-	4	2610	c.2542T>C	c.(2542-2544)Tcc>Ccc	p.S848P		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	848					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACCCATGAGGATTCTTCCACA	0.373000													3	127					0	0	0.004672	0	0
FBLN2	2199	broad.mit.edu	37	3	13670762	13670762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr3:13670762C>T	ENST00000404922.3	+	13	2931	c.2812C>T	c.(2812-2814)Cag>Tag	p.Q938*	FBLN2_ENST00000535798.1_Nonsense_Mutation_p.Q917*|FBLN2_ENST00000492059.1_Nonsense_Mutation_p.Q938*|FBLN2_ENST00000295760.7_Nonsense_Mutation_p.Q891*	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	933	EGF-like 7; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGCCGGCTTTCAGCGGGATGC	0.642000													7	18					0	0	0.003080	0	0
SCN7A	6332	broad.mit.edu	37	2	167301445	167301445	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:167301445A>T	ENST00000409855.1	-	12	1579	c.1453T>A	c.(1453-1455)Tgg>Agg	p.W485R		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	485					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GAACAATTCCAGATCAAGAAA	0.303000													9	25					0	0	0.008291	0	0
LONRF1	91694	broad.mit.edu	37	8	12583338	12583338	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr8:12583338A>T	ENST00000398246.3	-	11	2130	c.2061T>A	c.(2059-2061)gtT>gtA	p.V687V	LONRF1_ENST00000533751.1_Silent_p.V330V|LONRF1_ENST00000525024.1_Silent_p.V113V	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	687	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		CTTGAGAGTAAACCAAATCAT	0.413000													4	33					0	0	0.009096	0	0
COL22A1	169044	broad.mit.edu	37	8	139601515	139601515	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr8:139601515C>A	ENST00000303045.6	-	65	5308	c.4862G>T	c.(4861-4863)gGt>gTt	p.G1621V	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1601V	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1621					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTCACATTACCCGGCCGGGC	0.587000										HNSCC(7;0.00092)			6	51					0.00116845	0.00129209	0.001168	1	0
CDX4	1046	broad.mit.edu	37	X	72667341	72667341	+	Silent	SNP	C	C	T	rs146093321		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:72667341C>T	ENST00000373514.2	+	1	252	c.252C>T	c.(250-252)agC>agT	p.S84S		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	84						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AAGACTGGAGCGTGTATCCTG	0.607000													8	57					0	0	0.004482	0	0
CASD1	64921	broad.mit.edu	37	7	94146967	94146967	+	Splice_Site	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:94146967A>T	ENST00000297273.4	+	2	516	c.230_splice	c.e2+1	p.S77_splice		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	77						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATACAAAATCAGGTAACATTT	0.378000													5	44					0	0	0.014758	0	0
MKI67	4288	broad.mit.edu	37	10	129906870	129906870	+	Silent	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr10:129906870T>A	ENST00000368654.3	-	13	3609	c.3234A>T	c.(3232-3234)ccA>ccT	p.P1078P	MKI67_ENST00000368653.3_Silent_p.P718P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1078	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CACGGGCTGCTGGGTCCAGGA	0.557000													27	199					0	0	0.004656	0	0
CYP8B1	1582	broad.mit.edu	37	3	42917227	42917227	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr3:42917227G>A	ENST00000316161.4	-	1	406	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.R28C	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	28					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	p.R28C(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CATGGCCTGCGTTGTCGGAGC	0.582000													4	51					0	0	0.009096	0	0
MROH2B	133558	broad.mit.edu	37	5	41061778	41061778	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr5:41061778C>A	ENST00000399564.4	-	6	959	c.509G>T	c.(508-510)aGa>aTa	p.R170I		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GGGAAAATCTCTCCAGTGGTT	0.458000													22	79					4.35082e-09	5.88557e-09	0.010504	1	0
SIRT2	22933	broad.mit.edu	37	19	39390156	39390156	+	Silent	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:39390156T>C	ENST00000249396.7	-	1	307	c.6A>G	c.(4-6)gcA>gcG	p.A2A	SIRT2_ENST00000358931.5_Silent_p.A2A|SIRT2_ENST00000481381.1_5'UTR|SIRT2_ENST00000392081.2_5'UTR	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	sirtuin 2	2					cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GGTCTGGCTCTGCCATGGGCG	0.706000													12	34					0	0	0.013537	0	0
IRS4	8471	broad.mit.edu	37	X	107978562	107978562	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:107978562G>T	ENST00000372129.2	-	1	1089	c.1013C>A	c.(1012-1014)gCc>gAc	p.A338D		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	338						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCGGCAGCGGGCTCTGTATTC	0.597000													47	275					4.21674e-32	6.77922e-32	0.014410	1	0
WWC3	55841	broad.mit.edu	37	X	10096607	10096607	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:10096607C>T	ENST00000380861.4	+	17	2682	c.2291C>T	c.(2290-2292)aCg>aTg	p.T764M	WWC3_ENST00000454666.1_Missense_Mutation_p.T764M	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	764										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GATGCGGTGACGGTGCTCCTG	0.667000													4	24					0	0	0.009096	0	0
TENM1	10178	broad.mit.edu	37	X	123805604	123805604	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:123805604C>A	ENST00000422452.2	-	6	1160	c.1097G>T	c.(1096-1098)aGg>aTg	p.R366M	TENM1_ENST00000371130.3_Missense_Mutation_p.R366M	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTCGGTCCCCCTGTTCCCTTT	0.438000													26	145					3.6726e-16	5.52211e-16	0.021523	1	0
LDHC	3948	broad.mit.edu	37	11	18451425	18451425	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr11:18451425C>A	ENST00000541669.1	+	4	497	c.386C>A	c.(385-387)cCt>cAt	p.P129H	LDHC_ENST00000546146.1_Intron|LDHC_ENST00000544105.1_Missense_Mutation_p.P129H|LDHC_ENST00000536880.1_Missense_Mutation_p.P115H|LDHC_ENST00000535809.1_Missense_Mutation_p.P129H|LDHC_ENST00000280704.4_Missense_Mutation_p.P129H|LDHC_ENST00000537486.1_Missense_Mutation_p.P129H			P07864	LDHC_HUMAN	lactate dehydrogenase C	129					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	CATTATAGTCCTGATTGTAAA	0.413000													11	67					7.03913e-09	9.40049e-09	0.013537	1	0
SOX1	6656	broad.mit.edu	37	13	112722188	112722188	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr13:112722188G>T	ENST00000330949.1	+	1	276	c.216G>T	c.(214-216)gaG>gaT	p.E72D		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	72					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		TGGCCCAGGAGAACCCCAAGA	0.677000													8	42					3.09899e-07	3.86679e-07	0.004482	1	0
ECT2	1894	broad.mit.edu	37	3	172480522	172480522	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr3:172480522C>T	ENST00000417960.1	+	10	1312	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F	ECT2_ENST00000427830.1_Missense_Mutation_p.L280F|ECT2_ENST00000441497.2_Missense_Mutation_p.L280F|ECT2_ENST00000540509.1_Missense_Mutation_p.L311F|ECT2_ENST00000232458.5_Missense_Mutation_p.L280F|ECT2_ENST00000392692.3_Missense_Mutation_p.L311F	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	280	BRCT 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATGCACTCACCTTGTAGTTGA	0.348000													10	37					0	0	0.008291	0	0
ZZZ3	26009	broad.mit.edu	37	1	78098771	78098771	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr1:78098771G>A	ENST00000370801.3	-	5	744	c.269C>T	c.(268-270)tCt>tTt	p.S90F	ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CTTTTCTGAAGAAGAAAGTCC	0.383000													17	157					0	0	0.007413	0	0
ABCA12	26154	broad.mit.edu	37	2	215880266	215880266	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:215880266A>T	ENST00000272895.7	-	15	2123	c.1904T>A	c.(1903-1905)cTc>cAc	p.L635H	ABCA12_ENST00000389661.4_Missense_Mutation_p.L317H	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	635					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGTCCGATGAGGTAAGACTG	0.383000													5	27					0	0	0.001984	0	0
SYT3	84258	broad.mit.edu	37	19	51133412	51133412	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:51133412G>A	ENST00000338916.4	-	3	1324	c.691C>T	c.(691-693)Cga>Tga	p.R231*	SYT3_ENST00000593901.1_Nonsense_Mutation_p.R231*|SYT3_ENST00000544769.1_Nonsense_Mutation_p.R231*|SYT3_ENST00000600079.1_Nonsense_Mutation_p.R231*	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	231						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GTGAGGGGTCGGGGCAGGGCT	0.657000													18	16					0	0	0.004990	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185945	127185945	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:127185945C>A	ENST00000371124.3	-	1	437	c.241G>T	c.(241-243)Gga>Tga	p.G81*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	81						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCATCCCATCCTGTTACCAGT	0.483000													57	243					1.0442e-30	1.67232e-30	0.014410	1	0
OR5L2	26338	broad.mit.edu	37	11	55595555	55595555	+	Silent	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr11:55595555C>A	ENST00000378397.1	+	1	861	c.861C>A	c.(859-861)ccC>ccA	p.P287P		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGCTGAACCCCCTGATCTACA	0.443000										HNSCC(27;0.073)			10	46					1.76689e-08	2.31524e-08	0.006214	1	0
AKAP9	10142	broad.mit.edu	37	7	91671405	91671405	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:91671405G>T	ENST00000359028.2	+	20	5224	c.4999G>T	c.(4999-5001)Gtg>Ttg	p.V1667L	AKAP9_ENST00000358100.2_Missense_Mutation_p.V1667L|AKAP9_ENST00000356239.3_Missense_Mutation_p.V1655L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1667					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			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)			GAGAGAGAGGGTGCTTTTAGA	0.423000			T	BRAF	papillary thyroid								9	37					2.74318e-10	3.79685e-10	0.006214	1	0
CSMD3	114788	broad.mit.edu	37	8	113317099	113317099	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr8:113317099C>A	ENST00000297405.5	-	52	8361	c.8117G>T	c.(8116-8118)aGa>aTa	p.R2706I	CSMD3_ENST00000352409.3_Missense_Mutation_p.R2636I|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2666I|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2706	Sushi 16.					integral to membrane|plasma membrane				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						AATTCGCCATCTTCCATGTTC	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	28					0.00909568	0.00977376	0.009096	1	0
LRCH1	23143	broad.mit.edu	37	13	47279253	47279253	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr13:47279253G>A	ENST00000311191.6	+	12	1680	c.1451G>A	c.(1450-1452)gGa>gAa	p.G484E	LRCH1_ENST00000389798.3_Missense_Mutation_p.G484E|LRCH1_ENST00000389797.3_Missense_Mutation_p.G484E	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	484										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TATCCTATGGGATCAGCAGAA	0.284000													8	54					0	0	0.010729	0	0
DEC1	50514	broad.mit.edu	37	9	118162697	118162697	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr9:118162697G>T	ENST00000374016.1	+	6	592	c.73G>T	c.(73-75)Gtg>Ttg	p.V25L		NM_017418.2	NP_059114.1	Q9P2X7	DEC1_HUMAN	deleted in esophageal cancer 1	25					negative regulation of cell proliferation					kidney(1)|large_intestine(1)|ovary(1)	3						ccttcttgccgtgttacacat	0.463000													16	75					1.15088e-07	1.46667e-07	0.004007	1	0
RFPL2	10739	broad.mit.edu	37	22	32587270	32587270	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr22:32587270C>A	ENST00000400236.3	-	5	1561	c.356G>T	c.(355-357)cGa>cTa	p.R119L	RFPL2_ENST00000400237.1_Missense_Mutation_p.R209L|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248980.4_Missense_Mutation_p.R148L|RFPL2_ENST00000248983.4_Missense_Mutation_p.R119L	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	209			A -> T (in dbSNP:rs8135276).				zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GCGCCCACTTCGGACGCTCCT	0.532000													24	94					2.21704e-12	3.15211e-12	0.016522	1	0
PLEKHA7	144100	broad.mit.edu	37	11	16847840	16847840	+	Silent	SNP	C	C	T	rs141499859		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr11:16847840C>T	ENST00000355661.3	-	10	1180	c.1170G>A	c.(1168-1170)cgG>cgA	p.R390R	PLEKHA7_ENST00000531066.1_Silent_p.R390R|PLEKHA7_ENST00000448080.2_Silent_p.R390R|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	390					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCTTCTCTGCCCGTTGGGGCT	0.597000													33	75					0	0	0.010818	0	0
FDCSP	260436	broad.mit.edu	37	4	71096932	71096932	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr4:71096932G>A	ENST00000317987.5	+	2	133	c.21G>A	c.(19-21)ctG>ctA	p.L7L		NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN	follicular dendritic cell secreted protein	7						extracellular region											TTCTCCTCCTGATCACAGCCA	0.348000													14	87					0	0	0.020292	0	0
RBP4	5950	broad.mit.edu	37	10	95360773	95360773	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr10:95360773A>G	ENST00000371467.1	-	2	332	c.13T>C	c.(13-15)Tgg>Cgg	p.W5R	RBP4_ENST00000371464.3_Missense_Mutation_p.W5R|RBP4_ENST00000371469.2_Intron|FFAR4_ENST00000604414.1_Intron			P02753	RET4_HUMAN	retinol binding protein 4, plasma	5					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	AAGAGCGCCCACACCCACTTC	0.701000													9	71					0	0	0.004482	0	0
MCTP1	79772	broad.mit.edu	37	5	94259701	94259701	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr5:94259701C>T	ENST00000515393.1	-	7	1237	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	MCTP1_ENST00000312216.8_Missense_Mutation_p.G192E|MCTP1_ENST00000505208.1_Missense_Mutation_p.G192E|MCTP1_ENST00000505078.1_Intron|MCTP1_ENST00000429576.2_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	413					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GAAATAAGATCCAACCACTTC	0.269000													3	25					0	0	0.004672	0	0
SLC9A4	389015	broad.mit.edu	37	2	103136343	103136343	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:103136343A>G	ENST00000295269.4	+	9	2204	c.1747A>G	c.(1747-1749)Aga>Gga	p.R583G		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	583					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGGAATCAAAAGACTTTCCCC	0.458000													10	24					0	0	0.010729	0	0
FRG2B	441581	broad.mit.edu	37	10	135438829	135438829	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr10:135438829C>A	ENST00000443774.1	-	4	663	c.614G>T	c.(613-615)tGt>tTt	p.C205F	FRG2B_ENST00000425520.1_Missense_Mutation_p.C204F			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	204						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CAGCTGCTCACAGGTAAGTGG	0.557000													11	74					0.000219431	0.000249925	0.020292	1	0
CDH19	28513	broad.mit.edu	37	18	64178851	64178851	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr18:64178851A>T	ENST00000262150.2	-	10	1822	c.1530T>A	c.(1528-1530)tcT>tcA	p.S510S	CDH19_ENST00000540086.1_Intron	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	510	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TGTCTTCTACAGATAGATTAA	0.308000													9	30					0	0	0.004482	0	0
POM121L12	285877	broad.mit.edu	37	7	53103954	53103954	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:53103954G>T	ENST00000408890.4	+	1	606	c.590G>T	c.(589-591)tGg>tTg	p.W197L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	197										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGCCGTTGTGGTTCGAGGTC	0.672000													15	71					0.000219431	0.000249925	0.020292	1	0
NID2	22795	broad.mit.edu	37	14	52520359	52520359	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr14:52520359G>A	ENST00000216286.5	-	5	1366	c.1367C>T	c.(1366-1368)aCa>aTa	p.T456I	NID2_ENST00000541773.1_Missense_Mutation_p.T403I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	456						basement membrane	calcium ion binding|collagen binding			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)					ACTTAAGGGTGTAGTGTGACC	0.498000													37	125					0	0	0.005524	0	0
MAP2	4133	broad.mit.edu	37	2	210559961	210559961	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:210559961C>T	ENST00000360351.4	+	7	3573	c.3067C>T	c.(3067-3069)Cca>Tca	p.P1023S	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.P1019S	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1023					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TAGTTCAGTGCCAGAGATAGC	0.428000													6	38					0	0	0.001168	0	0
FRK	2444	broad.mit.edu	37	6	116288845	116288845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr6:116288845G>A	ENST00000606080.1	-	4	1114	c.668C>T	c.(667-669)aCc>aTc	p.T223I	FRK_ENST00000538210.1_Missense_Mutation_p.T81I	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	223					negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TTGGTCCACGGTTTTATACGA	0.388000													13	53					0	0	0.016723	0	0
TCAIM	285343	broad.mit.edu	37	3	44442777	44442777	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr3:44442777A>G	ENST00000342649.4	+	10	1628	c.1201A>G	c.(1201-1203)Att>Gtt	p.I401V	TCAIM_ENST00000417237.1_Missense_Mutation_p.I401V	NM_173826.3	NP_776187.2			T cell activation inhibitor, mitochondrial																		CCAGTGGTTTATTCTCACCAA	0.393000													11	37					0	0	0.010729	0	0
GRM8	2918	broad.mit.edu	37	7	126173059	126173059	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:126173059T>C	ENST00000339582.2	-	9	3185	c.2377A>G	c.(2377-2379)Att>Gtt	p.I793V	GRM8_ENST00000358373.3_Missense_Mutation_p.I793V|GRM8_ENST00000444921.2_Missense_Mutation_p.I793V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	793					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCTAACCAAATGATGCAGGTG	0.398000										HNSCC(24;0.065)			6	34					0	0	0.001168	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283933	151283933	+	RNA	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:151283933C>A	ENST00000509345.2	-	0	403																		p.G27V(1)									AGCCTGCACACCCACCAGGCC	0.627000													20	115					3.51602e-12	4.96519e-12	0.008871	1	0
SYNE1	23345	broad.mit.edu	37	6	152674536	152674536	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr6:152674536C>T	ENST00000367255.5	-	69	11716	c.11115G>A	c.(11113-11115)caG>caA	p.Q3705Q	SYNE1_ENST00000265368.4_Silent_p.Q3705Q|SYNE1_ENST00000341594.5_Silent_p.Q3676Q|SYNE1_ENST00000423061.1_Silent_p.Q3690Q|SYNE1_ENST00000448038.1_Silent_p.Q3690Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3705					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)		CCTCCAAACTCTGAATCTCCT	0.388000										HNSCC(10;0.0054)			9	44					0	0	0.006214	0	0
PPP4R4	57718	broad.mit.edu	37	14	94640869	94640869	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr14:94640869G>A	ENST00000304338.3	+	1	221	c.67G>A	c.(67-69)Gac>Aac	p.D23N	PPP4R4_ENST00000328839.3_Missense_Mutation_p.D23N|PPP4R4_ENST00000555690.1_3'UTR	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	23						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTACATGGAGGACCTGCAGGA	0.721000													19	36					0	0	0.016522	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90121952	90121952	+	RNA	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:90121952G>T	ENST00000483379.1	+	0	351																											TATTTAGCCTGGTTTCAGCAG	0.522000													39	378					6.29468e-14	9.2322e-14	0.021022	1	0
SRPK3	26576	broad.mit.edu	37	X	153046726	153046726	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:153046726C>A	ENST00000489426.1	+	8	2682	c.316C>A	c.(316-318)Ccg>Acg	p.P106T	SRPK3_ENST00000370104.1_Missense_Mutation_p.P39T|SRPK3_ENST00000370108.3_Missense_Mutation_p.P39T|SRPK3_ENST00000370100.1_Intron|SRPK3_ENST00000370101.3_Missense_Mutation_p.P39T|SRPK3_ENST00000393786.3_Missense_Mutation_p.P39T			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	39	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGCCACACCGGTGCCTCA	0.662000													9	44					0.000274275	0.000311541	0.004482	1	0
STARD8	9754	broad.mit.edu	37	X	67942409	67942409	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:67942409T>C	ENST00000252336.6	+	11	2852	c.2480T>C	c.(2479-2481)cTg>cCg	p.L827P	STARD8_ENST00000374599.3_Missense_Mutation_p.L907P|STARD8_ENST00000374597.3_Missense_Mutation_p.L827P	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	827	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ATCCAGGACCTGCTGCGTGAT	0.647000													9	39					0	0	0.006214	0	0
LRRK2	120892	broad.mit.edu	37	12	40668693	40668693	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr12:40668693G>T	ENST00000298910.7	+	16	1897	c.1839G>T	c.(1837-1839)ttG>ttT	p.L613F	LRRK2_ENST00000343742.2_Missense_Mutation_p.L613F	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	613					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAGGATACTTGATTACAAAGA	0.308000													4	42					2.56e-06	3.0838e-06	0.009096	1	0
MED12	9968	broad.mit.edu	37	X	70338650	70338650	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:70338650C>G	ENST00000333646.6	+	1	245	c.46C>G	c.(46-48)Cgg>Ggg	p.R16G	MED12_ENST00000374080.3_Missense_Mutation_p.R16G|MED12_ENST00000374102.1_Missense_Mutation_p.R16G	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	16				R -> RPR (in Ref. 1; AAD22033).	androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCCCCTGAAGCGGCCGCGGCT	0.682000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						4	26					0	0	0.009096	0	0
OR56A3	390083	broad.mit.edu	37	11	5968817	5968817	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr11:5968817G>T	ENST00000329564.6	+	1	248	c.241G>T	c.(241-243)Gtc>Ttc	p.V81F		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCCTCACTGTCATCCCCAA	0.567000													37	135					1.60099e-16	2.42468e-16	0.021022	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140346697	140346697	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr5:140346697C>G	ENST00000289269.5	+	1	878	c.346C>G	c.(346-348)Cgc>Ggc	p.R116G	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		116	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCGGCCTCGCTGCCTGCT	0.637000													13	37					0	0	0.003163	0	0
FLT1	2321	broad.mit.edu	37	13	29007977	29007977	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr13:29007977C>T	ENST00000282397.4	-	6	1043	c.792G>A	c.(790-792)atG>atA	p.M264I	FLT1_ENST00000541932.1_Missense_Mutation_p.M264I|FLT1_ENST00000539099.1_Missense_Mutation_p.M264I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	264	Ig-like C2-type 3.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AACTCCAGGTCATTTGAACTC	0.443000													10	43					0	0	0.006214	0	0
AMPH	273	broad.mit.edu	37	7	38530673	38530673	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:38530673G>T	ENST00000356264.2	-	5	588	c.373C>A	c.(373-375)Ctg>Atg	p.L125M	AMPH_ENST00000428293.2_Missense_Mutation_p.L125M|AMPH_ENST00000325590.5_Missense_Mutation_p.L125M	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	125	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AATTGCCCCAGGTAGGTATCC	0.413000													33	155					3.76114e-14	5.53576e-14	0.019004	1	0
UBE2NL	389898	broad.mit.edu	37	X	142967601	142967601	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:142967601C>A	ENST00000370494.1	+	1	429	c.399C>A	c.(397-399)aaC>aaA	p.N133K		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	133							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGACCAACGAAGCCCAAG	0.438000													9	101					4.68919e-08	6.04963e-08	0.008291	1	0
CACNA1S	779	broad.mit.edu	37	1	201047133	201047133	+	Missense_Mutation	SNP	C	C	A	rs150590855	byFrequency	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr1:201047133C>A	ENST00000362061.3	-	11	1719	c.1493G>T	c.(1492-1494)cGc>cTc	p.R498L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R498L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	498					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCAGTCGAAGCGGTTGAAGAT	0.592000													39	74					5.44703e-19	8.3708e-19	0.009718	1	0
ATRX	546	broad.mit.edu	37	X	76944409	76944409	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:76944409G>T	ENST00000373344.5	-	7	710	c.496C>A	c.(496-498)Cat>Aat	p.H166N	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.H128N	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	166	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.H166fs*4(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACAATCCCATGAAGCCCATCT	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						12	98					1.5842e-08	2.08895e-08	0.016723	1	0
ANK1	286	broad.mit.edu	37	8	41552254	41552254	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr8:41552254C>T	ENST00000396942.1	-	28	3266	c.3183G>A	c.(3181-3183)ctG>ctA	p.L1061L	ANK1_ENST00000289734.7_Silent_p.L1061L|ANK1_ENST00000379758.2_Silent_p.L1061L|ANK1_ENST00000265709.8_Silent_p.L1102L|ANK1_ENST00000352337.4_Silent_p.L1061L|ANK1_ENST00000396945.1_Silent_p.L1061L|ANK1_ENST00000347528.4_Silent_p.L1061L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1061					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCACGAAGTACAGCGGGAAGT	0.607000													8	31					0	0	0.003080	0	0
MYH8	4626	broad.mit.edu	37	17	10305003	10305003	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr17:10305003C>G	ENST00000403437.2	-	23	2882	c.2788G>C	c.(2788-2790)Gag>Cag	p.E930Q	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	930					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			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						TCCTCCTCCTCAGCTCTTTCA	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				38	273					0	0	0.006230	0	0
CELSR1	9620	broad.mit.edu	37	22	46790128	46790128	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr22:46790128C>A	ENST00000262738.3	-	14	5874	c.5875G>T	c.(5875-5877)Ggg>Tgg	p.G1959W		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1959	EGF-like 7; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGGGGTTCCCCCACCAGCCT	0.572000													12	35					7.03913e-09	9.40049e-09	0.013537	1	0
TTYH1	57348	broad.mit.edu	37	19	54932552	54932552	+	Missense_Mutation	SNP	T	T	C	rs141084064	byFrequency	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:54932552T>C	ENST00000301194.4	+	3	529	c.407T>C	c.(406-408)aTt>aCt	p.I136T	TTYH1_ENST00000391739.3_Missense_Mutation_p.I185T|TTYH1_ENST00000376530.3_Missense_Mutation_p.I136T|TTYH1_ENST00000376531.3_Missense_Mutation_p.I136T			Q9H313	TTYH1_HUMAN	tweety family member 1	136					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CTCAGCACCATTGACCACCTG	0.597000													6	73					0	0	0.001168	0	0
DUSP22	56940	broad.mit.edu	37	6	348139	348139	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr6:348139C>T	ENST00000419235.2	+	6	378	c.300C>T	c.(298-300)atC>atT	p.I100I	DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000344450.5_Silent_p.I100I			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	100	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I100M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CACTGGTGATCGCATACATCA	0.607000													6	238					0	0	0.001984	0	0
FANCM	57697	broad.mit.edu	37	14	45644719	45644719	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr14:45644719G>T	ENST00000267430.5	+	14	2847	c.2762G>T	c.(2761-2763)tGt>tTt	p.C921F	FANCM_ENST00000542564.2_Missense_Mutation_p.C895F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	921					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAAGAACCGTGTGTGTTATTA	0.303000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	86					2.80697e-09	3.80947e-09	0.010729	1	0
RNF41	10193	broad.mit.edu	37	12	56600268	56600268	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr12:56600268A>C	ENST00000345093.4	-	7	1286	c.917T>G	c.(916-918)cTt>cGt	p.L306R	RNF41_ENST00000394013.2_Missense_Mutation_p.L235R|RNF41_ENST00000552656.1_Missense_Mutation_p.L306R	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41	306					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TATCATGACAAGGCCTGGCTC	0.527000											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	178					0	0	0.014410	0	0
DRP2	1821	broad.mit.edu	37	X	100510189	100510189	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:100510189A>T	ENST00000395209.3	+	20	2724	c.2197A>T	c.(2197-2199)Agt>Tgt	p.S733C	DRP2_ENST00000402866.1_Missense_Mutation_p.S733C|DRP2_ENST00000541709.1_Missense_Mutation_p.S655C|DRP2_ENST00000538510.1_Missense_Mutation_p.S733C	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	733					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGAGATGGAAAGTCAAAATTG	0.453000													19	111					0	0	0.008871	0	0
MOSPD1	56180	broad.mit.edu	37	X	134033180	134033180	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:134033180G>T	ENST00000370783.3	-	3	356	c.170C>A	c.(169-171)cCa>cAa	p.P57Q	MOSPD1_ENST00000370777.1_Missense_Mutation_p.P57Q|MOSPD1_ENST00000370779.4_Missense_Mutation_p.P57Q|MOSPD1_ENST00000491609.1_Intron	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	57	MSP.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					ATACTTATTTGGAGTAGTACA	0.343000													30	119					3.65163e-15	5.43196e-15	0.006320	1	0
CDR1	1038	broad.mit.edu	37	X	139866430	139866430	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:139866430C>T	ENST00000370532.2	-	1	293	c.102G>A	c.(100-102)ttG>ttA	p.L34L		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	34	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TTGTGTCTTCCAACAAAGGTA	0.453000													33	207					0	0	0.013726	0	0
NRG3	10718	broad.mit.edu	37	10	84745309	84745309	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr10:84745309C>T	ENST00000372142.2	+	11	1722	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	NRG3_ENST00000556918.1_Missense_Mutation_p.A510V|NRG3_ENST00000545131.1_Missense_Mutation_p.A330V|NRG3_ENST00000404576.2_Missense_Mutation_p.A484V|NRG3_ENST00000537893.1_Missense_Mutation_p.A330V|NRG3_ENST00000372141.2_Missense_Mutation_p.A680V|NRG3_ENST00000404547.1_Missense_Mutation_p.A704V	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	704					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GAACGAGAGGCGCAATTTGTC	0.463000													5	36					0	0	0.001168	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187702117	187702117	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:187702117G>T	ENST00000295131.2	-	5	698	c.659C>A	c.(658-660)gCa>gAa	p.A220E		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	220					apoptosis		zinc ion binding			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)			TTTTTCTGCTGCAGCTACTAG	0.393000													25	58					5.45024e-15	8.05018e-15	0.018920	1	0
MGAM	8972	broad.mit.edu	37	7	141765147	141765147	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:141765147G>T	ENST00000475668.2	+	38	4551	c.4497G>T	c.(4495-4497)gaG>gaT	p.E1499D	MGAM_ENST00000549489.2_Missense_Mutation_p.E1499D			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1499	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCGTGCAGGAGGTGACGGGAC	0.612000													9	14					0.00010058	0.000115501	0.013537	1	0
AGTR2	186	broad.mit.edu	37	X	115303582	115303582	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:115303582G>T	ENST00000371906.4	+	3	239	c.49G>T	c.(49-51)Ggt>Tgt	p.G17C		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	17					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						CATTACCAGCGGTCTTCACTT	0.423000													19	60					2.94398e-08	3.8336e-08	0.007413	1	0
THSD7A	221981	broad.mit.edu	37	7	11514030	11514030	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:11514030C>A	ENST00000423059.3	-	8	2434	c.2183G>T	c.(2182-2184)tGc>tTc	p.C728F	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	728	TSP type-1 7.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCCGACAGAGCAGGAGGCCTC	0.507000										HNSCC(18;0.044)			13	57					7.03913e-09	9.40049e-09	0.013537	1	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													5	40					0	0	0.014758	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803441	185803441	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:185803441C>T	ENST00000302277.6	+	4	3912	c.3318C>T	c.(3316-3318)caC>caT	p.H1106H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1106						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						tgcagcagcacgctgcagctg	0.547000													14	93					0	0	0.020292	0	0
LHX9	56956	broad.mit.edu	37	1	197898131	197898131	+	Splice_Site	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr1:197898131G>C	ENST00000367390.3	+	6	936		c.e6-1		LHX9_ENST00000561173.1_Intron|LHX9_ENST00000367387.4_Splice_Site|LHX9_ENST00000337020.2_Intron|LHX9_ENST00000367391.1_Intron	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9						motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TTGGTTTGCAGGTTTGGTTCC	0.413000													20	22					0	0	0.010504	0	0
GPR112	139378	broad.mit.edu	37	X	135426794	135426794	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:135426794C>A	ENST00000394143.1	+	6	1220	c.929C>A	c.(928-930)aCa>aAa	p.T310K	GPR112_ENST00000287534.4_Missense_Mutation_p.T247K|GPR112_ENST00000412101.1_Missense_Mutation_p.T105K|GPR112_ENST00000394141.1_Missense_Mutation_p.T105K|GPR112_ENST00000370652.1_Missense_Mutation_p.T310K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	310					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTAGATGAGACAGCTACATTT	0.378000													11	67					4.36969e-10	5.98863e-10	0.016723	1	0
AKAP4	8852	broad.mit.edu	37	X	49961630	49961630	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:49961630G>C	ENST00000376056.2	-	4	311	c.161C>G	c.(160-162)tCc>tGc	p.S54C	AKAP4_ENST00000376058.2_Missense_Mutation_p.S54C|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.S54C|AKAP4_ENST00000358526.2_Missense_Mutation_p.S63C			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	63					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTCTGAGCTGGAACTAGCAGC	0.418000													15	63					0	0	0.004007	0	0
UBBP4	23666	broad.mit.edu	37	17	21730888	21730888	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr17:21730888G>A	ENST00000584755.1	+	2	587	c.190G>A	c.(190-192)Gag>Aag	p.E64K	UBBP4_ENST00000578713.1_Missense_Mutation_p.E64K|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CATCCAGAAAGAGTCGACCCT	0.552000													11	38					0	0	0.010729	0	0
TAF1	6872	broad.mit.edu	37	X	70614023	70614023	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:70614023A>G	ENST00000449580.1	+	22	3382	c.3331A>G	c.(3331-3333)Aag>Gag	p.K1111E	TAF1_ENST00000373790.4_Missense_Mutation_p.K1111E|TAF1_ENST00000423759.1_Missense_Mutation_p.K1132E|TAF1_ENST00000276072.3_Missense_Mutation_p.K1132E			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1111					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTTGCAGAACAAGAAAACCAG	0.458000													13	51					0	0	0.020292	0	0
PRKCG	5582	broad.mit.edu	37	19	54403990	54403990	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:54403990A>G	ENST00000263431.3	+	14	1844	c.1562A>G	c.(1561-1563)tAc>tGc	p.Y521C	PRKCG_ENST00000542049.1_Missense_Mutation_p.Y408C|PRKCG_ENST00000540413.1_Missense_Mutation_p.Y521C	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	521	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACCCCGGACTACATAGCCCCG	0.577000													68	265					0	0	0.014410	0	0
MKI67	4288	broad.mit.edu	37	10	129903439	129903439	+	Missense_Mutation	SNP	C	C	A	rs148951938		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr10:129903439C>A	ENST00000368654.3	-	13	7040	c.6665G>T	c.(6664-6666)aGa>aTa	p.R2222I	MKI67_ENST00000368653.3_Missense_Mutation_p.R1862I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2222	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTGTGGAGATCTGCAGGCTAT	0.493000													46	251					1.06522e-23	1.68023e-23	0.013114	1	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26236079	26236079	+	Silent	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:26236079T>G	ENST00000354667.4	-	7	804	c.636A>C	c.(634-636)tcA>tcC	p.S212S	HNRNPA2B1_ENST00000356674.7_Silent_p.S200S	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	212	Gly-rich.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CGCCACCACGTGAATCCCCAA	0.408000			T	ETV1	prostate								18	66					0	0	0.007413	0	0
TEX13B	56156	broad.mit.edu	37	X	107224687	107224687	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:107224687C>G	ENST00000302917.1	-	3	654	c.562G>C	c.(562-564)Gcg>Ccg	p.A188P		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	188										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GCAGCCACCGCCTCCTTTTCC	0.652000													47	284					0	0	0.014410	0	0
SCN7A	6332	broad.mit.edu	37	2	167279890	167279890	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:167279890T>G	ENST00000409855.1	-	18	3032	c.2906A>C	c.(2905-2907)gAa>gCa	p.E969A		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	969					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GTCAGCATATTCTAATAAAAT	0.308000													6	22					0	0	0.001168	0	0
RBM4	5936	broad.mit.edu	37	11	66411238	66411238	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr11:66411238T>C	ENST00000409406.1	+	2	1507	c.730T>C	c.(730-732)Tac>Cac	p.Y244H	RBM4_ENST00000530235.1_Intron|RBM4_ENST00000310092.7_Missense_Mutation_p.Y244H|RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.Y219H|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_Missense_Mutation_p.Y219H|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_Missense_Mutation_p.Y244H|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000408993.2_Missense_Mutation_p.Y244H|RBM4_ENST00000396053.4_Intron					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CGTGTATAATTACGCAGAGCA	0.577000													19	74					0	0	0.007413	0	0
DACT1	51339	broad.mit.edu	37	14	59112196	59112196	+	Silent	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr14:59112196T>C	ENST00000395153.3	+	4	891	c.744T>C	c.(742-744)ctT>ctC	p.L248L	DACT1_ENST00000556859.1_Silent_p.L4L|DACT1_ENST00000335867.4_Silent_p.L285L|DACT1_ENST00000395151.3_Silent_p.L4L|DACT1_ENST00000541264.2_Silent_p.L4L	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	285					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TGTTTCTCCTTTGTCTGACGG	0.502000													13	67					0	0	0.013537	0	0
CDC27	996	broad.mit.edu	37	17	45219297	45219297	+	Silent	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr17:45219297T>G	ENST00000066544.3	-	12	1566	c.1473A>C	c.(1471-1473)ctA>ctC	p.L491L	CDC27_ENST00000531206.1_Silent_p.L497L|CDC27_ENST00000527547.1_Silent_p.L490L|CDC27_ENST00000446365.2_Silent_p.L430L	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	491					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GGTGAGAAGGTAGATGGCTCA	0.378000													4	158					0	0	0.004482	0	0
OR8I2	120586	broad.mit.edu	37	11	55860982	55860982	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr11:55860982G>T	ENST00000302124.2	+	1	230	c.199G>T	c.(199-201)Gca>Tca	p.A67S	OR8I2_ENST00000560768.1_Missense_Mutation_p.A67S			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GAGCAATTTAGCATTTATTGA	0.393000													27	136					2.65835e-16	4.01151e-16	0.007291	1	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159606694	159606694	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr3:159606694T>A	ENST00000337808.6	+	6	1857	c.1280T>A	c.(1279-1281)cTa>cAa	p.L427Q	IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.L195Q|SCHIP1_ENST00000445224.2_Missense_Mutation_p.L184Q|IQCJ-SCHIP1_ENST00000460298.1_Missense_Mutation_p.L387Q|SCHIP1_ENST00000482804.1_Missense_Mutation_p.L200Q|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.L476Q|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.L414Q|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.L503Q	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		427						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						ATTGGGCAGCTACAAGTGATA	0.383000													6	54					0	0	0.001168	0	0
GRIN3A	116443	broad.mit.edu	37	9	104448969	104448969	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr9:104448969T>C	ENST00000361820.3	-	2	1813	c.1213A>G	c.(1213-1215)Atg>Gtg	p.M405V		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	405					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGTTGGATCATGGTGGCTGTG	0.468000													25	27					0	0	0.016522	0	0
SPATA19	219938	broad.mit.edu	37	11	133715038	133715038	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr11:133715038C>A	ENST00000299140.3	-	2	180	c.126G>T	c.(124-126)tgG>tgT	p.W42C	SPATA19_ENST00000532889.1_Missense_Mutation_p.W42C	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	42					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CTTTTTTCAACCAATGATGTA	0.423000													6	36					3.59834e-05	4.22501e-05	0.001168	1	0
NCOA2	10499	broad.mit.edu	37	8	71037031	71037031	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr8:71037031C>A	ENST00000452400.2	-	20	4167	c.3986G>T	c.(3985-3987)cGa>cTa	p.R1329L	NCOA2_ENST00000267974.4_Missense_Mutation_p.R417L	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1329					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ATGTGCCATTCGGGGTGACAT	0.512000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								48	75					1.51926e-22	2.3874e-22	0.014410	1	0
UGGT1	56886	broad.mit.edu	37	2	128937402	128937402	+	Silent	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:128937402G>C	ENST00000375990.3	+	35	4189	c.3786G>C	c.(3784-3786)gtG>gtC	p.V1262V	UGGT1_ENST00000259253.6_Silent_p.V1286V			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1286	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGACTCCTGTGAAATTCTGGT	0.343000													11	53					0	0	0.010729	0	0
LPHN1	22859	broad.mit.edu	37	19	14262129	14262129	+	Silent	SNP	A	A	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:14262129A>C	ENST00000340736.6	-	24	4278	c.3981T>G	c.(3979-3981)ggT>ggG	p.G1327G	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.G1322G|CTB-55O6.12_ENST00000588658.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1327					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCGGTCAGCACCCCCGGGCC	0.716000													6	11					0	0	0.004482	0	0
IQUB	154865	broad.mit.edu	37	7	123097469	123097469	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:123097469G>A	ENST00000466202.1	-	12	2735	c.2159C>T	c.(2158-2160)gCa>gTa	p.A720V	RP11-332K15.1_ENST00000419832.1_RNA|IQUB_ENST00000324698.6_Missense_Mutation_p.A720V			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	720										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATGAGCAGCTGCTTCATCTTT	0.403000													8	86					0	0	0.004482	0	0
LRRC37A16P	651250	broad.mit.edu	37	17	66131620	66131620	+	RNA	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr17:66131620G>A	ENST00000590019.1	-	0	298																											CCGCCTTGCTGATGACATCCA	0.567000													18	37					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179423146	179423146	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:179423146G>T	ENST00000589042.1	-	327	87264	c.87040C>A	c.(87040-87042)Cga>Aga	p.R29014R	TTN_ENST00000342992.6_Silent_p.R26446R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.R20141R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.R20074R|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.R19949R|TTN_ENST00000591111.1_Silent_p.R27373R|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27373	Fibronectin type-III 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAACACTCGGAAAAAGTAT	0.423000													10	32					2.74318e-10	3.79685e-10	0.006214	1	0
KMT2D	8085	broad.mit.edu	37	12	49424105	49424105	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr12:49424105T>A	ENST00000301067.7	-	42	13956	c.13957A>T	c.(13957-13959)Aag>Tag	p.K4653*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCAGCATCCTTGGGGTGCTCC	0.622000													5	10					0	0	0.001168	0	0
RUNX3	864	broad.mit.edu	37	1	25228965	25228965	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr1:25228965G>T	ENST00000399916.1	-	6	1376	c.938C>A	c.(937-939)gCc>gAc	p.A313D	RUNX3_ENST00000308873.6_Missense_Mutation_p.A299D|RUNX3_ENST00000540420.1_Missense_Mutation_p.A206D|RUNX3_ENST00000338888.3_Missense_Mutation_p.A313D	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	299	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GCGGCTGGTGGCCGGCATGCC	0.701000													12	58					5.50884e-06	6.59798e-06	0.013537	1	0
KCNK5	8645	broad.mit.edu	37	6	39159385	39159385	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr6:39159385G>A	ENST00000359534.3	-	5	1119	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	261					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TTCCGTCGCCGCCGCCGCTTC	0.572000													10	99					0	0	0.010729	0	0
USP51	158880	broad.mit.edu	37	X	55513447	55513447	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:55513447A>T	ENST00000500968.3	-	2	2008	c.1926T>A	c.(1924-1926)tgT>tgA	p.C642*	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	642					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CATTGGGCACACAATCTGTTG	0.443000													3	32					0	0	0.009096	0	0
DPPA2	151871	broad.mit.edu	37	3	109031510	109031510	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr3:109031510C>T	ENST00000478945.1	-	3	309	c.63G>A	c.(61-63)gaG>gaA	p.E21E		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	21						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCACACTTTCCTCATCATCTA	0.408000													15	79					0	0	0.003163	0	0
ATAD2	29028	broad.mit.edu	37	8	124349867	124349867	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr8:124349867C>T	ENST00000287394.5	-	21	3156	c.3049G>A	c.(3049-3051)Gag>Aag	p.E1017K	ATAD2_ENST00000521903.1_Missense_Mutation_p.E335K	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1017	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ACTAATACCTCATCAGGGTCA	0.363000													8	40					0	0	0.006214	0	0
SYNE1	23345	broad.mit.edu	37	6	152655143	152655143	+	Splice_Site	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr6:152655143C>G	ENST00000367255.5	-	77	13395	c.12794_splice	c.e77+1	p.R4265_splice	SYNE1_ENST00000265368.4_Splice_Site_p.R4265_splice|SYNE1_ENST00000341594.5_Splice_Site_p.R4130_splice|SYNE1_ENST00000423061.1_Splice_Site_p.R4194_splice|SYNE1_ENST00000448038.1_Splice_Site_p.R4194_splice	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4265					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)		TTTCTGTTACCTGGCCAAGTT	0.393000										HNSCC(10;0.0054)			16	82					0	0	0.004007	0	0
ZEB2	9839	broad.mit.edu	37	2	145156366	145156366	+	Silent	SNP	G	G	T	rs111359671		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:145156366G>T	ENST00000558170.2	-	8	3572	c.2388C>A	c.(2386-2388)tcC>tcA	p.S796S	ZEB2_ENST00000539609.3_Silent_p.S772S|ZEB2_ENST00000303660.4_Silent_p.S796S|ZEB2_ENST00000409487.3_Silent_p.S796S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	796						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			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)		AACTACTGTGGGAGTTTTTAG	0.398000													21	137					1.2644e-06	1.54538e-06	0.010504	1	0
HMHA1	23526	broad.mit.edu	37	19	1080953	1080953	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:1080953G>A	ENST00000313093.2	+	17	2311	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K	HMHA1_ENST00000586866.1_Missense_Mutation_p.E698K|HMHA1_ENST00000590577.1_Missense_Mutation_p.E329K|HMHA1_ENST00000590214.1_Missense_Mutation_p.E721K|HMHA1_ENST00000536472.1_Missense_Mutation_p.E562K|HMHA1_ENST00000539243.2_Missense_Mutation_p.E710K|HMHA1_ENST00000543365.1_Missense_Mutation_p.E577K	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	694					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		GTTCCGCCACGAGGGGCTGTC	0.692000													3	20					0	0	0.009096	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62887094	62887094	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr6:62887094G>T	ENST00000281156.4	-	2	493	c.215C>A	c.(214-216)cCa>cAa	p.P72Q		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	72	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TAGTACCTTTGGATACTGCTT	0.289000													5	26					0.00116845	0.00129209	0.001168	1	0
FBXO40	51725	broad.mit.edu	37	3	121345686	121345686	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr3:121345686C>A	ENST00000338040.4	+	4	2473	c.2059C>A	c.(2059-2061)Ccc>Acc	p.P687T		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	687					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.P687A(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CATGTGTCAGCCCCGTGAGCA	0.483000													25	91					3.08376e-08	4.00314e-08	0.018920	1	0
PIM3	415116	broad.mit.edu	37	22	50354606	50354606	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr22:50354606C>G	ENST00000360612.4	+	1	446	c.11C>G	c.(10-12)tCc>tGc	p.S4C		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	pim-3 oncogene	4					cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		ATGCTGCTCTCCAAGTTCGGC	0.796000													2	4					0	0	0.004672	0	0
RELN	5649	broad.mit.edu	37	7	103179743	103179743	+	Missense_Mutation	SNP	G	G	T	rs116065504	by1000genomes	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:103179743G>T	ENST00000424685.2	-	45	7121	c.6962C>A	c.(6961-6963)aCg>aAg	p.T2321K	RELN_ENST00000343529.5_Missense_Mutation_p.T2321K|RELN_ENST00000428762.1_Missense_Mutation_p.T2321K			P78509	RELN_HUMAN	reelin	2321					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCCAAGACCGTATTACCAGA	0.393000													7	29					0.00198382	0.0021822	0.001984	1	0
SHROOM4	57477	broad.mit.edu	37	X	50376870	50376870	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:50376870G>C	ENST00000376020.2	-	4	2228	c.2203C>G	c.(2203-2205)Cag>Gag	p.Q735E	SHROOM4_ENST00000460112.3_Missense_Mutation_p.Q619E|SHROOM4_ENST00000289292.7_Missense_Mutation_p.Q735E	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	735					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.Q735*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ACAAGTGGCTGTGAATTATGC	0.542000													14	54					0	0	0.016723	0	0
ZNF615	284370	broad.mit.edu	37	19	52496489	52496489	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:52496489G>T	ENST00000602063.1	-	6	2189	c.1840C>A	c.(1840-1842)Cat>Aat	p.H614N	ZNF615_ENST00000598071.1_Missense_Mutation_p.H625N|ZNF615_ENST00000391795.3_Missense_Mutation_p.H619N|ZNF615_ENST00000594083.1_Missense_Mutation_p.H625N|ZNF615_ENST00000376716.5_Missense_Mutation_p.H614N			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GTTTGCTGATGTATACTGAGA	0.413000													13	92					1.5842e-08	2.08895e-08	0.016723	1	0
GRID1	2894	broad.mit.edu	37	10	87487719	87487719	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr10:87487719T>G	ENST00000327946.7	-	10	1511	c.1426A>C	c.(1426-1428)Aag>Cag	p.K476Q	GRID1_ENST00000536331.1_Missense_Mutation_p.K47Q	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	476						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCCAGAGCCTTGGCCAGTGCA	0.532000										Multiple Myeloma(13;0.14)			21	148					0	0	0.014323	0	0
CKAP2	26586	broad.mit.edu	37	13	53036054	53036054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr13:53036054G>T	ENST00000378037.5	+	4	1186	c.1096G>T	c.(1096-1098)Gag>Tag	p.E366*	CKAP2_ENST00000378034.3_Nonsense_Mutation_p.E365*|CKAP2_ENST00000258607.5_Nonsense_Mutation_p.E365*|CKAP2_ENST00000490903.1_Nonsense_Mutation_p.E317*	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	366					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AACCTCGGAAGAGAGAAAGTA	0.343000													11	19					6.40141e-05	7.39168e-05	0.010729	1	0
RPGRIP1	57096	broad.mit.edu	37	14	21771560	21771560	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr14:21771560A>T	ENST00000206660.6	+	5	658	c.658A>T	c.(658-660)Atg>Ttg	p.M220L	RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Intron|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.M220L			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	220					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGGTCTATGCATGCCTAACAG	0.403000													13	31					0	0	0.020292	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	84					0	0	0.014758	0	0
EFEMP2	30008	broad.mit.edu	37	11	65634509	65634509	+	Silent	SNP	C	C	A	rs148302546	byFrequency	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr11:65634509C>A	ENST00000307998.6	-	11	1442	c.1212G>T	c.(1210-1212)ccG>ccT	p.P404P	MUS81_ENST00000525006.1_Intron|EFEMP2_ENST00000528176.1_Intron|EFEMP2_ENST00000532648.1_5'UTR	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	404					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GGCCCGTCACCGGCCGGGCGA	0.612000													17	62					1.15919e-05	1.37653e-05	0.008871	1	0
CHEK2P2	646096	broad.mit.edu	37	15	20496628	20496628	+	RNA	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr15:20496628G>C	ENST00000555186.1	+	0	681					NR_038836.1																						CCTCATGAAGGGGAAGCCGAG	0.438000													4	53					0	0	0.009096	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22785437	22785437	+	RNA	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:22785437G>T	ENST00000600260.1	+	0	1526					NR_033899.1																						AGGAAAAGGTGGACCTGAAAG	0.597000													7	71					0.000157383	0.000180236	0.003080	1	0
STAG2	10735	broad.mit.edu	37	X	123181323	123181323	+	Silent	SNP	A	A	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:123181323A>C	ENST00000371160.1	+	9	1077	c.787A>C	c.(787-789)Agg>Cgg	p.R263R	STAG2_ENST00000371157.3_Silent_p.R263R|STAG2_ENST00000354548.5_Silent_p.R194R|STAG2_ENST00000218089.9_Silent_p.R263R|STAG2_ENST00000371144.3_Silent_p.R263R|STAG2_ENST00000371145.3_Silent_p.R263R|STAG2_ENST00000469481.1_Intron			Q8N3U4	STAG2_HUMAN	stromal antigen 2	263					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AGCCAATGAGAGGCTAGAACT	0.348000													10	55					0	0	0.010729	0	0
SNX12	29934	broad.mit.edu	37	X	70282792	70282792	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:70282792A>T	ENST00000374274.3	-	2	289	c.173T>A	c.(172-174)cTa>cAa	p.L58Q	SNX12_ENST00000465030.1_5'UTR|SNX12_ENST00000276105.3_Missense_Mutation_p.L54Q	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	58	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					GAAGATAGGTAGGTTTGTCTA	0.453000													5	21					0	0	0.014758	0	0
CSMD3	114788	broad.mit.edu	37	8	113364743	113364743	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr8:113364743G>T	ENST00000297405.5	-	39	6401	c.6157C>A	c.(6157-6159)Cct>Act	p.P2053T	CSMD3_ENST00000352409.3_Missense_Mutation_p.P1983T|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2013T|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1949T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2053	Sushi 11.					integral to membrane|plasma membrane		p.P2053S(1)|p.P2013S(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						TGTGGTTCAGGACAGGAATCC	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	68					1.3612e-06	1.65402e-06	0.003163	1	0
HEPH	9843	broad.mit.edu	37	X	65486459	65486459	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chrX:65486459G>T	ENST00000519389.1	+	21	3763	c.3584G>T	c.(3583-3585)cGc>cTc	p.R1195L	HEPH_ENST00000374727.3_Missense_Mutation_p.R1144L|HEPH_ENST00000441993.2_Missense_Mutation_p.R1143L|HEPH_ENST00000343002.2_Missense_Mutation_p.R1141L|HEPH_ENST00000419594.1_Missense_Mutation_p.R952L|HEPH_ENST00000336279.5_Missense_Mutation_p.R874L			Q9BQS7	HEPH_HUMAN	hephaestin	1141					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AAGCTACGACGCAATAGGAGG	0.493000													16	46					4.14922e-12	5.83964e-12	0.004007	1	0
EPHA3	2042	broad.mit.edu	37	3	89480488	89480488	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr3:89480488A>T	ENST00000336596.2	+	13	2550	c.2325A>T	c.(2323-2325)ccA>ccT	p.P775P	EPHA3_ENST00000494014.1_Silent_p.P775P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	775	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			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)		AGGATGACCCAGAAGCTGCTT	0.393000										TSP Lung(6;0.00050)			7	37					0	0	0.003080	0	0
CFL1	1072	broad.mit.edu	37	11	65623195	65623195	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr11:65623195G>T	ENST00000525451.2	-	4	1033	c.318C>A	c.(316-318)ccC>ccA	p.P106P	CFL1_ENST00000534769.1_Silent_p.P144P|CFL1_ENST00000308162.5_Silent_p.P106P|CFL1_ENST00000531407.1_Silent_p.P89P|CFL1_ENST00000531413.1_Silent_p.P89P|CFL1_ENST00000524553.1_Silent_p.P89P|CFL1_ENST00000527344.1_Silent_p.P89P			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	106	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		GCGCAGACTCGGGGGCCCTGG	0.547000													6	33					0.00198382	0.0021822	0.001984	1	0
RABGGTA	5875	broad.mit.edu	37	14	24736904	24736904	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr14:24736904C>T	ENST00000399409.3	-	13	1798	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	RABGGTA_ENST00000560777.1_Missense_Mutation_p.E48K|RABGGTA_ENST00000216840.6_Missense_Mutation_p.E439K	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	439					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		TCGGCATACTCCATCTTGAGC	0.622000													8	35					0	0	0.003080	0	0
CRX	1406	broad.mit.edu	37	19	48337742	48337742	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:48337742C>T	ENST00000221996.7	+	2	248	c.42C>T	c.(40-42)aaC>aaT	p.N14N	CRX_ENST00000539067.1_Silent_p.N14N|TPRX2P_ENST00000535362.1_Silent_p.N14N	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	14					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		ATTCTGTCAACGCCTTGGCCC	0.587000													16	50					0	0	0.004007	0	0
CSNK2A1	1457	broad.mit.edu	37	20	476380	476380	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr20:476380C>G	ENST00000217244.3	-	8	868	c.493G>C	c.(493-495)Gat>Cat	p.D165H	CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000400217.1_Missense_Mutation_p.D29H|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.D165H|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.D165H	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	165	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TGCTCATGATCAATCATGACA	0.428000													11	72					0	0	0.013537	0	0
BAI3	577	broad.mit.edu	37	6	69349246	69349246	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr6:69349246G>T	ENST00000370598.1	+	3	1500	c.679G>T	c.(679-681)Gag>Tag	p.E227*		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	227					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGAGCAGACAGAGGGCTGCCT	0.532000													6	36					0.00116845	0.00129209	0.001168	1	0
NCKAP5	344148	broad.mit.edu	37	2	133541907	133541907	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:133541907delG	ENST00000409261.1	-	14	2850	c.2477delC	c.(2476-2478)ctfs	p.P826fs	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.P826fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	826							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCCAGATGAAGGGAGTAGTGT	0.473													43	199	---	---	---	---					
FARP2	9855	broad.mit.edu	37	2	242373725	242373726	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:242373725_242373726insT	ENST00000264042.3	+	10	1190_1191	c.1020_1021insT	c.(1018-1023)tctcagfs	p.Q341fs	FARP2_ENST00000545004.1_Frame_Shift_Ins_p.Q341fs|FARP2_ENST00000373287.4_Frame_Shift_Ins_p.Q341fs	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	341					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GGGGCTCCTCCTTCAGATACAG	0.460													10	56	---	---	---	---					
APC	324	broad.mit.edu	37	5	112175846	112175846	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:112175846delG	ENST00000457016.1	+	16	4935	c.4555delG	c.(4555-4557)atfs	p.D1519fs	APC_ENST00000257430.4_Frame_Shift_Del_p.D1519fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Frame_Shift_Del_p.D1519fs			P25054	APC_HUMAN	adenomatous polyposis coli	1519	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.D1519N(1)|p.K1454fs*3(1)|p.D1519fs*2(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TATACAGAAAGATGTGGAATT	0.388		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			13	37	---	---	---	---					
AMPH	273	broad.mit.edu	37	7	38471788	38471788	+	Splice_Site	DEL	C	C	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:38471788delC	ENST00000356264.2	-	13	1374		c.e13+1		AMPH_ENST00000428293.2_Splice_Site|AMPH_ENST00000325590.5_Splice_Site	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin						endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TAGTGGCTTACCGTCCATAGG	0.328													18	60	---	---	---	---					
MGAM	8972	broad.mit.edu	37	7	141752606	141752607	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:141752606_141752607insT	ENST00000475668.2	+	26	3035_3036	c.2981_2982insT	c.(2980-2982)cttfs	p.L994fs	MGAM_ENST00000549489.2_Frame_Shift_Ins_p.L994fs			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	994	P-type 2.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTGGAGTCCCTTTTTGCTATT	0.421													26	123	---	---	---	---					
PCMTD1	115294	broad.mit.edu	37	8	52733128	52733128	+	Frame_Shift_Del	DEL	T	T	-	rs62506083	by1000genomes	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:52733128delT	ENST00000360540.5	-	7	1263	c.857delA	c.(856-858)acfs	p.N286fs	PCMTD1_ENST00000522514.1_Frame_Shift_Del_p.N286fs|PCMTD1_ENST00000544451.1_Frame_Shift_Del_p.N210fs|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	286						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TACGTAAGTGTTAATTCTCTG	0.398													11	180	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21974720	21974721	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:21974720_21974721insC	ENST00000304494.5	-	1	376_377	c.106_107insG	c.(106-108)gctfs	p.A36fs	CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.A36fs|CDKN2A_ENST00000498628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.A36fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.A36fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	36					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.L32_L37del(5)|p.G35fs*13(1)|p.A36T(1)|p.0(1)|p.V28_V51del(1)|p.E33fs*8(1)|p.L37fs*6(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTTGGGCAGCGCCCCCGCCTCC	0.728		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			32	113	---	---	---	---					
ORM2	5005	broad.mit.edu	37	9	117092249	117092250	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:117092249_117092250delTG	ENST00000412657.1	+	1	98_99	c.65_66delTG	c.(64-66)tfs	p.L22fs	ORM2_ENST00000431067.2_Frame_Shift_Del_p.L22fs					orosomucoid 2											breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)				CAGATCCCATTGTGTGCCAACC	0.624													6	13	---	---	---	---					
RMST	196475	broad.mit.edu	37	12	97885730	97885730	+	RNA	DEL	G	G	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:97885730delG	ENST00000538559.2	+	0	953				MIR1251_ENST00000408552.2_RNA																							TGAACAGAGCGCTTTGCTCAG	0.463													25	80	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													21	88	---	---	---	---					
IGHV3-21	28444	broad.mit.edu	37	14	106691997	106691997	+	RNA	DEL	G	G	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:106691997delG	ENST00000390607.2	-	0	125																											GAGAGACATTGGTCAGAAACT	0.507													36	89	---	---	---	---					
LYZL6	57151	broad.mit.edu	37	17	34263770	34263770	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:34263770delC	ENST00000585556.1	-	4	700	c.366delG	c.(364-366)ggfs	p.G122fs	LYZL6_ENST00000293274.4_Frame_Shift_Del_p.G122fs|LYZL6_ENST00000394523.3_Frame_Shift_Del_p.G122fs			O75951	LYZL6_HUMAN	lysozyme-like 6	122					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTTGTTCATCCCCCGTGCTC	0.572													31	139	---	---	---	---					
STRADA	92335	broad.mit.edu	37	17	61791420	61791420	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:61791420delC	ENST00000392950.4	-	3	334	c.61delG	c.(61-63)tcfs	p.V21fs	STRADA_ENST00000580039.1_Intron|STRADA_ENST00000336174.6_Frame_Shift_Del_p.V58fs|STRADA_ENST00000579340.1_5'UTR|STRADA_ENST00000447001.3_Intron|STRADA_ENST00000245865.5_5'UTR|STRADA_ENST00000582137.1_Frame_Shift_Del_p.V29fs|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000375840.4_5'UTR	NM_001003786.2|NM_001165969.1|NM_153335.5	NP_001003786.1|NP_001159441.1|NP_699166.2	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	58					activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						CTACTCATGACCTCCTGTTTA	0.488													19	62	---	---	---	---					
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	CGG	-	rs63544660		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr20:278688_278690delCGG	ENST00000382352.3	+	1	952_954	c.461_463delCGG	c.(460-465)ccg>c	p.PA154del		NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	154							nucleic acid binding|zinc ion binding	p.A159delA(3)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768													6	7	---	---	---	---					
ZDHHC8P1	150244	broad.mit.edu	37	22	23740207	23740207	+	RNA	DEL	G	G	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr22:23740207delG	ENST00000255890.4	-	0	1263																											AGAGGGCCCTGGGGGGCCTGT	0.612													31	95	---	---	---	---					
NCKAP5	344148	broad.mit.edu	37	2	133541907	133541907	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:133541907delG	ENST00000409261.1	-	14	2850	c.2477delC	c.(2476-2478)ctfs	p.P826fs	NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.P826fs|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	826							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCCAGATGAAGGGAGTAGTGT	0.473													43	199	---	---	---	---					
FARP2	9855	broad.mit.edu	37	2	242373725	242373726	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr2:242373725_242373726insT	ENST00000264042.3	+	10	1190_1191	c.1020_1021insT	c.(1018-1023)tctcagfs	p.Q341fs	FARP2_ENST00000545004.1_Frame_Shift_Ins_p.Q341fs|FARP2_ENST00000373287.4_Frame_Shift_Ins_p.Q341fs	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	341					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GGGGCTCCTCCTTCAGATACAG	0.460													10	56	---	---	---	---					
APC	324	broad.mit.edu	37	5	112175846	112175846	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr5:112175846delG	ENST00000457016.1	+	16	4935	c.4555delG	c.(4555-4557)atfs	p.D1519fs	APC_ENST00000257430.4_Frame_Shift_Del_p.D1519fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Frame_Shift_Del_p.D1519fs			P25054	APC_HUMAN	adenomatous polyposis coli	1519	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.D1519N(1)|p.K1454fs*3(1)|p.D1519fs*2(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TATACAGAAAGATGTGGAATT	0.388		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			13	37	---	---	---	---					
AMPH	273	broad.mit.edu	37	7	38471788	38471788	+	Splice_Site	DEL	C	C	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:38471788delC	ENST00000356264.2	-	13	1374		c.e13+1		AMPH_ENST00000428293.2_Splice_Site|AMPH_ENST00000325590.5_Splice_Site	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin						endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TAGTGGCTTACCGTCCATAGG	0.328													18	60	---	---	---	---					
MGAM	8972	broad.mit.edu	37	7	141752606	141752607	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr7:141752606_141752607insT	ENST00000475668.2	+	26	3035_3036	c.2981_2982insT	c.(2980-2982)cttfs	p.L994fs	MGAM_ENST00000549489.2_Frame_Shift_Ins_p.L994fs			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	994	P-type 2.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTGGAGTCCCTTTTTGCTATT	0.421													26	123	---	---	---	---					
PCMTD1	115294	broad.mit.edu	37	8	52733128	52733128	+	Frame_Shift_Del	DEL	T	T	-	rs62506083	by1000genomes	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr8:52733128delT	ENST00000360540.5	-	7	1263	c.857delA	c.(856-858)acfs	p.N286fs	PCMTD1_ENST00000522514.1_Frame_Shift_Del_p.N286fs|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Frame_Shift_Del_p.N210fs	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	286						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TACGTAAGTGTTAATTCTCTG	0.398													11	180	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21974720	21974721	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr9:21974720_21974721insC	ENST00000304494.5	-	1	376_377	c.106_107insG	c.(106-108)gctfs	p.A36fs	CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.A36fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.A36fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.A36fs|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	36					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.L32_L37del(5)|p.G35fs*13(1)|p.A36T(1)|p.0(1)|p.V28_V51del(1)|p.E33fs*8(1)|p.L37fs*6(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTTGGGCAGCGCCCCCGCCTCC	0.728		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			32	113	---	---	---	---					
ORM2	5005	broad.mit.edu	37	9	117092249	117092250	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr9:117092249_117092250delTG	ENST00000412657.1	+	1	98_99	c.65_66delTG	c.(64-66)tfs	p.L22fs	ORM2_ENST00000431067.2_Frame_Shift_Del_p.L22fs					orosomucoid 2											breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)				CAGATCCCATTGTGTGCCAACC	0.624													6	13	---	---	---	---					
RMST	196475	broad.mit.edu	37	12	97885730	97885730	+	RNA	DEL	G	G	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr12:97885730delG	ENST00000538559.2	+	0	953				MIR1251_ENST00000408552.2_RNA																							TGAACAGAGCGCTTTGCTCAG	0.463													25	80	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													21	88	---	---	---	---					
IGHV3-21	28444	broad.mit.edu	37	14	106691997	106691997	+	RNA	DEL	G	G	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr14:106691997delG	ENST00000390607.2	-	0	125																											GAGAGACATTGGTCAGAAACT	0.507													36	89	---	---	---	---					
LYZL6	57151	broad.mit.edu	37	17	34263770	34263770	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr17:34263770delC	ENST00000585556.1	-	4	700	c.366delG	c.(364-366)ggfs	p.G122fs	LYZL6_ENST00000394523.3_Frame_Shift_Del_p.G122fs|LYZL6_ENST00000293274.4_Frame_Shift_Del_p.G122fs			O75951	LYZL6_HUMAN	lysozyme-like 6	122					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTTGTTCATCCCCCGTGCTC	0.572													31	139	---	---	---	---					
STRADA	92335	broad.mit.edu	37	17	61791420	61791420	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr17:61791420delC	ENST00000392950.4	-	3	334	c.61delG	c.(61-63)tcfs	p.V21fs	STRADA_ENST00000447001.3_Intron|STRADA_ENST00000580039.1_Intron|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000579340.1_5'UTR|STRADA_ENST00000582137.1_Frame_Shift_Del_p.V29fs|STRADA_ENST00000336174.6_Frame_Shift_Del_p.V58fs|STRADA_ENST00000375840.4_5'UTR|STRADA_ENST00000245865.5_5'UTR	NM_001003786.2|NM_001165969.1|NM_153335.5	NP_001003786.1|NP_001159441.1|NP_699166.2	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	58					activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						CTACTCATGACCTCCTGTTTA	0.488													19	62	---	---	---	---					
NLRP8	126205	broad.mit.edu	37	19	56485092	56485092	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ffc7f9d-16da-4cff-b845-f2ff8df87569	6075d925-abdf-40d0-8705-47d971008ae3	g.chr19:56485092delC	ENST00000291971.3	+	7	2680	c.2609delC	c.(2608-2610)acfs	p.T870fs	NLRP8_ENST00000590542.1_Frame_Shift_Del_p.T851fs	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	870						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AAGATGCTGACCCACCTGAGC	0.507													39	154	---	---	---	---