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
GRID2	2895	broad.mit.edu	37	4	94006217	94006217	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:94006217C>G	ENST00000282020.4	+	3	574	c.316C>G	c.(316-318)Cag>Gag	p.Q106E	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	106					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGGATCCCTCCAGTCTTTGGC	0.532000													43	45					0	0	0.870114	0	0
ZC3H13	23091	broad.mit.edu	37	13	46559768	46559768	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr13:46559768T>A	ENST00000242848.4	-	10	1732	c.1384A>T	c.(1384-1386)Aga>Tga	p.R462*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R462*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	462	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTAGTATCTCTGGCATCTCTC	0.498000													38	83					0	0	0.827153	0	0
AASDHPPT	60496	broad.mit.edu	37	11	105948493	105948493	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:105948493G>T	ENST00000278618.4	+	1	278	c.56G>T	c.(55-57)tGg>tTg	p.W19L		NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	19					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		GGCGTGCGCTGGGCCTTTTCC	0.632000													31	75					5.71845e-15	7.8429e-15	0.812448	1	0
POM121C	100101267	broad.mit.edu	37	7	75052328	75052328	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:75052328G>C	ENST00000453279.2	-	13	2071	c.1207C>G	c.(1207-1209)Cca>Gca	p.P403A	POM121C_ENST00000257665.5_Missense_Mutation_p.P645A	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	645	Pore side (Potential).|Ser-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						ACCATGGATGGAGCAGGGATC	0.637000													20	31					0	0	0.681144	0	0
DUSP27	92235	broad.mit.edu	37	1	167095285	167095285	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:167095285G>T	ENST00000361200.2	+	6	1083	c.917G>T	c.(916-918)gGg>gTg	p.G306V	DUSP27_ENST00000271385.5_Missense_Mutation_p.G306V|DUSP27_ENST00000443333.1_Missense_Mutation_p.G306V|DUSP27_ENST00000485151.1_3'UTR			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	306					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCATGCTCGGGGCCAGAGTG	0.657000													13	20					4.36969e-10	5.22024e-10	0.435327	1	0
PRICKLE1	144165	broad.mit.edu	37	12	42862508	42862508	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:42862508A>G	ENST00000455697.1	-	5	793	c.508T>C	c.(508-510)Tat>Cat	p.Y170H	PRICKLE1_ENST00000548696.1_Missense_Mutation_p.Y170H|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.Y170H|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.Y170H|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.Y170H	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	170	LIM zinc-binding 1.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TGATAAAAATAGATGAGGTCG	0.498000													19	101					0	0	0.608945	0	0
TRIM51	84767	broad.mit.edu	37	11	55658697	55658697	+	Silent	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:55658697A>G	ENST00000449290.2	+	7	1040	c.948A>G	c.(946-948)caA>caG	p.Q316Q	TRIM51_ENST00000244891.3_Silent_p.Q173Q	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	316	B30.2/SPRY.					intracellular	zinc ion binding										GTGACCCTCAAGATGATCCCG	0.418000													58	232					0	0	0.870114	0	0
ESRRG	2104	broad.mit.edu	37	1	216850758	216850758	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:216850758G>T	ENST00000391890.3	-	4	580	c.63C>A	c.(61-63)tcC>tcA	p.S21S	ESRRG_ENST00000493748.1_Silent_p.S21S|ESRRG_ENST00000493603.1_Silent_p.S21S|ESRRG_ENST00000359162.2_Silent_p.S21S|ESRRG_ENST00000360012.3_Silent_p.S21S|ESRRG_ENST00000361395.2_Silent_p.S21S|ESRRG_ENST00000487276.1_Silent_p.S21S|ESRRG_ENST00000408911.3_Silent_p.S44S|ESRRG_ENST00000366938.2_Silent_p.S21S|ESRRG_ENST00000463665.1_Silent_p.S21S|ESRRG_ENST00000366940.2_Silent_p.S21S|ESRRG_ENST00000366937.1_Silent_p.S49S|ESRRG_ENST00000361525.3_Silent_p.S21S	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	44					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	AGGCTGGGCTGGAAGGTTCCG	0.522000													4	99					0.150653	0.151424	0.150653	1	0
TMEM14C	51522	broad.mit.edu	37	6	10728909	10728909	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:10728909G>C	ENST00000541412.1	+	5	621	c.236G>C	c.(235-237)aGg>aCg	p.R79T	TMEM14C_ENST00000229563.5_Missense_Mutation_p.R79T|TMEM14C_ENST00000467415.1_3'UTR	NM_001165258.1	NP_001158730.1	Q9P0S9	TM14C_HUMAN	transmembrane protein 14C	79					heme biosynthetic process	integral to membrane|mitochondrial membrane				large_intestine(2)|lung(3)	5	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	Epithelial(50;0.246)			ATGGGAATGAGGTTCTACCAC	0.393000													29	109					0	0	0.804634	0	0
CPA1	1357	broad.mit.edu	37	7	130025741	130025741	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:130025741A>G	ENST00000011292.3	+	9	1199	c.1049A>G	c.(1048-1050)tAt>tGt	p.Y350C	CPA1_ENST00000484324.1_Missense_Mutation_p.Y262C	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	350					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					AAGTTCAACTATGGCAGCATC	0.547000													12	39					0	0	0.500413	0	0
PTPRS	5802	broad.mit.edu	37	19	5220016	5220016	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:5220016G>A	ENST00000372412.4	-	22	3935	c.3702C>T	c.(3700-3702)aaC>aaT	p.N1234N	PTPRS_ENST00000592099.1_Silent_p.N802N|PTPRS_ENST00000588012.1_Silent_p.N1211N|PTPRS_ENST00000587303.1_Silent_p.N1233N|PTPRS_ENST00000262963.6_Silent_p.N1229N|PTPRS_ENST00000348075.2_Silent_p.N1211N|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Silent_p.N1233N|PTPRS_ENST00000353284.2_Silent_p.N802N			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1233					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CCAGGCCCCGGTTATCGAAGC	0.622000													36	48					0	0	0.819951	0	0
PLP2	5355	broad.mit.edu	37	X	49030725	49030725	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:49030725A>G	ENST00000376327.5	+	4	464	c.389A>G	c.(388-390)tAt>tGt	p.Y130C		NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	130	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						TATGATGCCTATGTCACCTTC	0.557000													33	165					0	0	0.840704	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33577084	33577084	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:33577084G>T	ENST00000504830.1	-	19	3382	c.3047C>A	c.(3046-3048)cCa>cAa	p.P1016Q	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P931Q|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1016	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1016Q(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGTGTTGGTGGGTTTTTTCC	0.537000										HNSCC(64;0.19)			36	180					5.71845e-15	7.8429e-15	0.812448	1	0
TAS2R40	259286	broad.mit.edu	37	7	142920057	142920057	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:142920057C>A	ENST00000408947.3	+	1	928	c.886C>A	c.(886-888)Ctg>Atg	p.L296M		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	296					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CTCAGTACAACTGATCTTGGG	0.493000													54	96					1.53716e-24	2.52845e-24	0.870114	1	0
WSCD2	9671	broad.mit.edu	37	12	108589972	108589972	+	Silent	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:108589972G>C	ENST00000332082.4	+	3	1181	c.363G>C	c.(361-363)cgG>cgC	p.R121R	WSCD2_ENST00000547525.1_Silent_p.R121R|WSCD2_ENST00000549903.1_Silent_p.R121R|WSCD2_ENST00000261400.3_Silent_p.R121R			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	121						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGGTTGTCCGGGAGAAGGAGG	0.567000													5	17					0	0	0.184627	0	0
MOS	4342	broad.mit.edu	37	8	57025798	57025798	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:57025798C>T	ENST00000311923.1	-	1	743	c.744G>A	c.(742-744)ccG>ccA	p.P248P		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	248	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			TCAGGAGCTCCGGGGCGCGGT	0.542000													18	54					0	0	0.654019	0	0
HTR5A	3361	broad.mit.edu	37	7	154876089	154876089	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:154876089C>T	ENST00000287907.2	+	2	1542	c.966C>T	c.(964-966)atC>atT	p.I322I	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	322						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GGAAAAGCATCTTCCTGTGGC	0.512000													30	150					0	0	0.769981	0	0
KCNK1	3775	broad.mit.edu	37	1	233750011	233750011	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:233750011C>T	ENST00000366621.3	+	1	262	c.94C>T	c.(94-96)Ctc>Ttc	p.L32F		NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	32						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	GGGCTACTTGCTCTACCTGGT	0.657000													25	16					0	0	0.706142	0	0
NEFH	4744	broad.mit.edu	37	22	29886089	29886089	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr22:29886089G>T	ENST00000310624.6	+	4	2493	c.2460G>T	c.(2458-2460)gtG>gtT	p.V820V		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	826	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGGAAGAGGTGAAGTCCCCAG	0.557000													6	57					0.000274275	0.000289611	0.307466	1	0
AFM	173	broad.mit.edu	37	4	74357672	74357672	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:74357672G>T	ENST00000226355.3	+	8	1020	c.927G>T	c.(925-927)gaG>gaT	p.E309D		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	309	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAATACCAGAGCGCGGCCAGT	0.353000													52	41					1.57914e-17	2.29058e-17	0.870114	1	0
OR4C16	219428	broad.mit.edu	37	11	55340407	55340407	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:55340407G>T	ENST00000314634.3	+	1	804	c.804G>T	c.(802-804)atG>atT	p.M268I		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGGATAAGATGATAGCTGTAT	0.408000													31	99					1.60099e-16	2.26864e-16	0.804634	1	0
ZNF263	10127	broad.mit.edu	37	16	3340375	3340375	+	Silent	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:3340375A>G	ENST00000219069.5	+	6	2745	c.1869A>G	c.(1867-1869)agA>agG	p.R623R	ZNF263_ENST00000538765.1_Silent_p.R271R	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	623					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GGCACCAGAGAATCCACACAG	0.473000													13	46					0	0	0.435327	0	0
CSMD2	114784	broad.mit.edu	37	1	34166217	34166217	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:34166217C>A	ENST00000373381.4	-	23	3809	c.3633G>T	c.(3631-3633)gaG>gaT	p.E1211D	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.E84D	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1171	Sushi 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCCCATCATCTCAGAATGGC	0.502000													38	99					2.95478e-19	4.43668e-19	0.840704	1	0
POLA1	5422	broad.mit.edu	37	X	24732763	24732763	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:24732763T>A	ENST00000379068.3	+	5	482	c.439T>A	c.(439-441)Tgt>Agt	p.C147S	POLA1_ENST00000379059.3_Missense_Mutation_p.C141S			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	141					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	GTTCATTGCTTGTGCTGGAAA	0.348000													12	9					0	0	0.500413	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53686540	53686540	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:53686540T>A	ENST00000262135.4	-	15	2152	c.2059A>T	c.(2059-2061)Agc>Tgc	p.S687C	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.S687C|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.S687C|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.S687C	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	687	C2 1.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TATTCTGTGCTATAAGCCTGG	0.328000													24	37					0	0	0.667858	0	0
RGAG1	57529	broad.mit.edu	37	X	109697338	109697338	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:109697338G>A	ENST00000465301.2	+	3	3739	c.3493G>A	c.(3493-3495)Gag>Aag	p.E1165K	RGAG1_ENST00000540313.1_Missense_Mutation_p.E1165K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1165										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						ATGCTCTGTGGAGGAAGAGAT	0.507000													23	80					0	0	0.624587	0	0
NFATC1	4772	broad.mit.edu	37	18	77170446	77170446	+	Silent	SNP	G	G	T	rs138155687	byFrequency	TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:77170446G>T	ENST00000253506.5	+	2	540	c.171G>T	c.(169-171)ccG>ccT	p.P57P	NFATC1_ENST00000542384.1_Silent_p.P57P|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000318065.5_Silent_p.P44P|NFATC1_ENST00000427363.2_Silent_p.P57P|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Silent_p.P57P|NFATC1_ENST00000329101.4_Silent_p.P44P|NFATC1_ENST00000591814.1_Silent_p.P57P|NFATC1_ENST00000592223.1_Silent_p.P44P|NFATC1_ENST00000586434.1_Silent_p.P44P	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	57					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCGCCCTGCCGCTCCCCACGG	0.632000													37	124					2.26627e-22	3.58949e-22	0.834066	1	0
MYO16	23026	broad.mit.edu	37	13	109672172	109672172	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr13:109672172G>T	ENST00000356711.2	+	23	2769	c.2643G>T	c.(2641-2643)gcG>gcT	p.A881A	MYO16_ENST00000457511.2_Silent_p.A393A|MYO16_ENST00000251041.5_Silent_p.A881A|MYO16_ENST00000357550.2_Silent_p.A881A	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	881	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)			ACACAAATGCGGTGTACTCCC	0.443000													25	75					1.75199e-13	2.30933e-13	0.717897	1	0
PCDHB7	56129	broad.mit.edu	37	5	140554009	140554009	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:140554009G>A	ENST00000231137.3	+	1	1767	c.1593G>A	c.(1591-1593)gtG>gtA	p.V531V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		531	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTCCGCGTGGGCGCCACAG	0.697000													25	48					0	0	0.654019	0	0
C8orf22	492307	broad.mit.edu	37	8	49986667	49986667	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:49986667C>A	ENST00000303202.8	+	3	278	c.105C>A	c.(103-105)aaC>aaA	p.N35K	C8orf22_ENST00000399653.4_Missense_Mutation_p.N35K|C8orf22_ENST00000522267.1_Missense_Mutation_p.N35K|C8orf22_ENST00000517663.1_Missense_Mutation_p.N35K	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22	35										large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				ATTCTGTTAACTTCATAGATG	0.313000													40	46					2.0833e-19	3.14255e-19	0.870114	1	0
BDP1	55814	broad.mit.edu	37	5	70782357	70782357	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:70782357G>T	ENST00000358731.4	+	9	1379	c.1116G>T	c.(1114-1116)caG>caT	p.Q372H	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	372	Required for phosphorylation by CSNK2A1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATTTGCTTCAGAAAGTTCTTG	0.313000													17	30					3.32936e-07	3.74935e-07	0.539581	1	0
VPS36	51028	broad.mit.edu	37	13	53008928	53008928	+	Splice_Site	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr13:53008928C>A	ENST00000378060.4	-	5	468	c.441_splice	c.e5+1	p.Q147_splice		NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	147					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		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;3.14e-08)		TTAAAAATACCTGGGGTCCTC	0.353000													37	86					6.31075e-24	1.02943e-23	0.870114	1	0
RARS	5917	broad.mit.edu	37	5	167929032	167929032	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:167929032G>T	ENST00000231572.3	+	9	1033	c.979G>T	c.(979-981)Gac>Tac	p.D327Y	RARS_ENST00000538719.1_Missense_Mutation_p.D121Y|RARS_ENST00000520421.1_3'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	327					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TGATGCATTGGACGTCTCTTT	0.313000													25	65					3.62531e-18	5.2977e-18	0.796494	1	0
FMO2	2327	broad.mit.edu	37	1	171173102	171173102	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:171173102G>A	ENST00000441535.1	+	6	843	c.726G>A	c.(724-726)atG>atA	p.M242I	RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.M242I	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	242					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCGTTCTATGCTCCGCAATG	0.473000													29	129					0	0	0.750413	0	0
KCNH5	27133	broad.mit.edu	37	14	63269214	63269214	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:63269214C>A	ENST00000322893.7	-	9	1923	c.1655G>T	c.(1654-1656)cGa>cTa	p.R552L	KCNH5_ENST00000420622.2_Missense_Mutation_p.R552L|KCNH5_ENST00000394968.1_Missense_Mutation_p.R494L	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	552					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCTGGCCAATCGAAAAGCAGG	0.498000													24	64					2.79863e-10	3.36796e-10	0.681144	1	0
UNC79	57578	broad.mit.edu	37	14	94109917	94109917	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:94109917G>T	ENST00000553484.1	+	36	6255	c.6101G>T	c.(6100-6102)gGg>gTg	p.G2034V	UNC79_ENST00000256339.4_Missense_Mutation_p.G1835V|UNC79_ENST00000555664.1_Missense_Mutation_p.G1973V|UNC79_ENST00000393151.2_Missense_Mutation_p.G2012V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2012						integral to membrane		p.G1835E(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CATGACTGTGGGGCCATTCTT	0.468000													24	77					3.65163e-15	5.02227e-15	0.706142	1	0
PDE11A	50940	broad.mit.edu	37	2	178682626	178682626	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:178682626C>A	ENST00000286063.5	-	8	1920	c.1603G>T	c.(1603-1605)Gat>Tat	p.D535Y	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000358450.4_Missense_Mutation_p.D285Y|PDE11A_ENST00000409504.1_Missense_Mutation_p.D177Y|PDE11A_ENST00000389683.3_Missense_Mutation_p.D91Y|PDE11A_ENST00000449286.2_Missense_Mutation_p.D177Y	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	535	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GGTTTCCCATCAAGTCTGTTT	0.398000									Primary Pigmented Nodular Adrenocortical Disease, Familial				12	44					9.16793e-09	1.06923e-08	0.520397	1	0
SPTA1	6708	broad.mit.edu	37	1	158646067	158646067	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:158646067T>C	ENST00000368148.3	-	8	1156	c.976A>G	c.(976-978)Aaa>Gaa	p.K326E	SPTA1_ENST00000368147.3_Missense_Mutation_p.K326E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	326					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)					TTCTCTGCTTTAGCACATAAC	0.473000													132	211					0	0	0.870114	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768904	31768904	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr21:31768904G>T	ENST00000355459.2	+	1	513	c.500G>T	c.(499-501)gGa>gTa	p.G167V		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	167						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCAACTTGTGGATCAGGCTTC	0.463000													7	27					1.76689e-08	2.05093e-08	0.335167	1	0
TMEM59L	25789	broad.mit.edu	37	19	18727819	18727819	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:18727819A>G	ENST00000600490.1	+	6	756	c.571A>G	c.(571-573)Ata>Gta	p.I191V	TMEM59L_ENST00000262817.3_Missense_Mutation_p.I191V			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	191						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GACTCAGCCCATAGTGGAGAG	0.662000													33	74					0	0	0.870114	0	0
ATRNL1	26033	broad.mit.edu	37	10	117154182	117154182	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:117154182T>A	ENST00000355044.3	+	20	3315	c.3189T>A	c.(3187-3189)agT>agA	p.S1063R	ATRNL1_ENST00000423111.2_Missense_Mutation_p.S114R|ATRNL1_ENST00000303745.7_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1063	Laminin EGF-like 2.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTACATGCAGTGGCCATGCAA	0.323000													29	46					0	0	0.769981	0	0
ZNF704	619279	broad.mit.edu	37	8	81599576	81599576	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:81599576G>A	ENST00000327835.3	-	4	674	c.443C>T	c.(442-444)cCg>cTg	p.P148L	ZNF704_ENST00000520336.1_5'UTR	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	148						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			AGCCGAGAGCGGCGGCGACGG	0.697000											OREG0018841	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	37					0	0	0.457914	0	0
KIAA0319	9856	broad.mit.edu	37	6	24576703	24576703	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:24576703G>C	ENST00000535378.1	-	11	2242	c.1600C>G	c.(1600-1602)Caa>Gaa	p.Q534E	KIAA0319_ENST00000543707.1_Missense_Mutation_p.Q543E|KIAA0319_ENST00000537886.1_Missense_Mutation_p.Q543E|KIAA0319_ENST00000430948.2_Missense_Mutation_p.Q498E|KIAA0319_ENST00000378214.3_Missense_Mutation_p.Q543E	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	543	PKD 3.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.Q543K(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ATGGAGTTTTGGGGCAAAGTT	0.498000													148	627					0	0	0.870114	0	0
ULK2	9706	broad.mit.edu	37	17	19679692	19679692	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:19679692C>A	ENST00000395544.4	-	27	3580	c.3081G>T	c.(3079-3081)tcG>tcT	p.S1027S	ULK2_ENST00000361658.2_Silent_p.S1027S	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	1027					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GGCAGAGCGCCGACAGTCTTC	0.428000													5	9					0.00116845	0.00121806	0.217242	1	0
CCDC73	493860	broad.mit.edu	37	11	32657326	32657326	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:32657326G>T	ENST00000335185.5	-	14	1144	c.1101C>A	c.(1099-1101)tcC>tcA	p.S367S	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	367										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTCTTTAAGGGATGATAATT	0.234000													6	9					2.0095e-06	2.22472e-06	0.248553	1	0
SZT2	23334	broad.mit.edu	37	1	43909091	43909091	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:43909091C>T	ENST00000562955.1	+	60	8397	c.8397C>T	c.(8395-8397)ttC>ttT	p.F2799F	SZT2_ENST00000372442.1_Silent_p.F1957F	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2856						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCATGCTCTTCGACCCAGCTG	0.612000													5	76					0	0	0.184627	0	0
OBSCN	84033	broad.mit.edu	37	1	228444447	228444447	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:228444447G>T	ENST00000570156.2	+	16	4755	c.4681G>T	c.(4681-4683)Gcc>Tcc	p.A1561S	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1469S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.A33S|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1469S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	542	Ig-like 16.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTGGCTCAGGCCCAGACGGA	0.647000													14	86					0.000422831	0.000444562	0.500413	1	0
COL11A1	1301	broad.mit.edu	37	1	103470216	103470216	+	Splice_Site	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:103470216C>T	ENST00000358392.2	-	19	2200	c.1881_splice	c.e19-1	p.G628_splice	COL11A1_ENST00000512756.1_Splice_Site_p.G500_splice|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000353414.4_Splice_Site_p.G577_splice|COL11A1_ENST00000370096.3_Splice_Site_p.G616_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	616	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTCGTTCACCCTGTTAAAT	0.343000													22	34					0	0	0.681144	0	0
MIR138-2	406930	broad.mit.edu	37	16	56892495	56892495	+	RNA	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:56892495C>T	ENST00000384916.1	+	0	66					NR_029680.1																						GGCTATTTCACGACACCAGGG	0.627000													10	20					0	0	0.387290	0	0
AKAP3	10566	broad.mit.edu	37	12	4737269	4737269	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:4737269T>C	ENST00000545990.2	-	5	1323	c.799A>G	c.(799-801)Agg>Ggg	p.R267G	AKAP3_ENST00000228850.1_Missense_Mutation_p.R267G	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	267					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CCTCGAAACCTCTTTCTCTCC	0.453000													24	16					0	0	0.639603	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48198245	48198245	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:48198245C>G	ENST00000396720.3	+	9	3178	c.2984C>G	c.(2983-2985)cCc>cGc	p.P995R	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	995							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CTCACCAGCCCCGCTGCGTCT	0.731000													6	2					0	0	0.217242	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249342	90249342	+	RNA	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:90249342C>T	ENST00000468879.1	+	0	479																											CATCAGCAGCCTGCAGCCTGA	0.468000													90	265					0	0	0.870114	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195203	18195203	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:18195203C>A	ENST00000314254.3	+	1	820	c.400C>A	c.(400-402)Cgc>Agc	p.R134S	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	134						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCGCTGCCGCCGCCCCACACA	0.587000													43	108					1.19451e-25	1.98815e-25	0.870114	1	0
KRT6A	3853	broad.mit.edu	37	12	52882289	52882289	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:52882289C>A	ENST00000330722.6	-	7	1315	c.1247G>T	c.(1246-1248)gGg>gTg	p.G416V		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	416	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCCATCTCCCCACGCTGCTC	0.577000													67	86					3.3814e-41	6.48543e-41	0.870114	1	0
CDH8	1006	broad.mit.edu	37	16	61935134	61935134	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:61935134C>G	ENST00000577390.1	-	3	1450	c.496G>C	c.(496-498)Gag>Cag	p.E166Q	CDH8_ENST00000299345.6_Missense_Mutation_p.E166Q|CDH8_ENST00000584337.1_Missense_Mutation_p.E166Q|CDH8_ENST00000577730.1_Missense_Mutation_p.E166Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	166	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTAAGAAACTCTGGTGCATTG	0.393000													28	48					0	0	0.769981	0	0
MGA	23269	broad.mit.edu	37	15	42028610	42028610	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr15:42028610G>T	ENST00000219905.7	+	13	4329	c.4148G>T	c.(4147-4149)cGg>cTg	p.R1383L	MGA_ENST00000545763.1_Missense_Mutation_p.R1383L|MGA_ENST00000570161.1_Missense_Mutation_p.R1383L|MGA_ENST00000389936.4_Missense_Mutation_p.R1383L|MGA_ENST00000566586.1_Missense_Mutation_p.R1383L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1383						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CGAAAGAGCCGGGGTGAGAAG	0.443000													21	39					5.26018e-13	6.80566e-13	0.608945	1	0
CWH43	80157	broad.mit.edu	37	4	49034730	49034730	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:49034730C>G	ENST00000226432.4	+	12	1839	c.1656C>G	c.(1654-1656)caC>caG	p.H552Q	CWH43_ENST00000513409.1_Missense_Mutation_p.H525Q	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	552					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTGGGAACCACGAGTGGGTTT	0.428000													24	76					0	0	0.693898	0	0
NALCN	259232	broad.mit.edu	37	13	101714413	101714413	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr13:101714413C>A	ENST00000251127.6	-	41	4743	c.4662G>T	c.(4660-4662)ctG>ctT	p.L1554L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1554						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTCCCTCGCCAGGAGTTCCT	0.572000													41	55					6.87076e-12	8.65011e-12	0.870114	1	0
PCDHGA8	9708	broad.mit.edu	37	5	140774406	140774406	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:140774406G>T	ENST00000398604.2	+	1	2026	c.2026G>T	c.(2026-2028)Ggc>Tgc	p.G676C	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCGAGTTGGGCAGTCTGAA	0.627000													11	35					2.68362e-12	3.4092e-12	0.411799	1	0
ENOX2	10495	broad.mit.edu	37	X	129799709	129799709	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:129799709C>T	ENST00000338144.3	-	10	1426	c.1009G>A	c.(1009-1011)Gct>Act	p.A337T	ENOX2_ENST00000394363.1_Missense_Mutation_p.A308T|ENOX2_ENST00000370935.1_Missense_Mutation_p.A308T|ENOX2_ENST00000370927.1_Missense_Mutation_p.A337T	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	337					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TGGTACACAGCCACTATCTGC	0.483000													10	25					0	0	0.457914	0	0
CLCN1	1180	broad.mit.edu	37	7	143039113	143039113	+	Silent	SNP	C	C	A	rs149015514		TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:143039113C>A	ENST00000343257.2	+	15	1761	c.1674C>A	c.(1672-1674)ccC>ccA	p.P558P		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	558					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ACATCCTGCCCATGATGGTGG	0.537000													23	101					2.44723e-14	3.30107e-14	0.681144	1	0
NUP210	23225	broad.mit.edu	37	3	13393654	13393654	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:13393654T>C	ENST00000254508.5	-	19	2741	c.2659A>G	c.(2659-2661)Ata>Gta	p.I887V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	887					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ATGAGCTCTATGGAGGCCGAC	0.592000													25	11					0	0	0.779181	0	0
TERT	7015	broad.mit.edu	37	5	1294514	1294514	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:1294514C>T	ENST00000310581.5	-	2	544	c.487G>A	c.(487-489)Gct>Act	p.A163T	TERT_ENST00000334602.6_Missense_Mutation_p.A163T|TERT_ENST00000508104.2_Missense_Mutation_p.A163T|TERT_ENST00000296820.5_Missense_Mutation_p.A163T	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	163	GQ motif.|RNA-interacting domain 1.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CAGCTGGGAGCCACCAGCACA	0.746000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				4	18					0	0	0.150653	0	0
TMEM184A	202915	broad.mit.edu	37	7	1590557	1590557	+	Missense_Mutation	SNP	A	A	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:1590557A>C	ENST00000297477.5	-	3	597	c.281T>G	c.(280-282)cTc>cGc	p.L94R		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	94						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CACGATGAGGAGCAGGCGGAT	0.622000													12	72					0	0	0.520397	0	0
MSC	9242	broad.mit.edu	37	8	72756314	72756314	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:72756314C>T	ENST00000325509.4	-	1	389	c.100G>A	c.(100-102)Gta>Ata	p.V34I	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	34					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CTGCGCTCTACGCCGCGGAGG	0.716000													6	15					0	0	0.307466	0	0
CCDC73	493860	broad.mit.edu	37	11	32657327	32657327	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:32657327G>T	ENST00000335185.5	-	14	1143	c.1100C>A	c.(1099-1101)tCc>tAc	p.S367Y	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	367										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTCTTTAAGGGATGATAATTC	0.229000													6	9					2.0095e-06	2.22472e-06	0.248553	1	0
MDGA2	161357	broad.mit.edu	37	14	47566271	47566271	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:47566271C>A	ENST00000426342.1	-	6	833	c.87G>T	c.(85-87)gaG>gaT	p.E29D	MDGA2_ENST00000399232.2_Missense_Mutation_p.E327D|MDGA2_ENST00000357362.3_Missense_Mutation_p.E29D|MDGA2_ENST00000439988.2_Missense_Mutation_p.E258D	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	258	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATGTTATGGCCTCTCCAGGAT	0.428000													28	110					2.48696e-23	4.03002e-23	0.779181	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885169	88885169	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:88885169C>A	ENST00000319675.3	-	1	1127	c.1031G>T	c.(1030-1032)cGt>cTt	p.R344L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	344										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GTGGCCATGACGGAGGCTCCA	0.602000													18	59					2.39187e-15	3.3082e-15	0.575678	1	0
DENND5B	160518	broad.mit.edu	37	12	31568372	31568372	+	Silent	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:31568372T>C	ENST00000389082.5	-	12	2745	c.2481A>G	c.(2479-2481)ggA>ggG	p.G827G	DENND5B_ENST00000536562.1_Silent_p.G862G|DENND5B_ENST00000306833.6_Silent_p.G862G	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	827	RUN 1.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTCTTTCTGGTCCGAGGGCAA	0.323000													10	6					0	0	0.411799	0	0
CALHM1	255022	broad.mit.edu	37	10	105215319	105215319	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:105215319G>T	ENST00000329905.5	-	2	877	c.741C>A	c.(739-741)atC>atA	p.I247I	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	247						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						AGAACTGCTGGATGCAGACCT	0.617000													9	27					0.000274275	0.000289611	0.307466	1	0
GPR45	11250	broad.mit.edu	37	2	105858714	105858714	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:105858714C>T	ENST00000258456.1	+	1	515	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	133						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TGGACCGCTTCCTCATCATCG	0.632000													29	25					0	0	0.769981	0	0
SMR3A	26952	broad.mit.edu	37	4	71227849	71227849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:71227849G>A	ENST00000226460.4	+	2	113	c.17G>A	c.(16-18)tGg>tAg	p.W6*		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	6						extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCACTGACTTGGATCTTGGGC	0.343000													56	105					0	0	0.870114	0	0
DLST	1743	broad.mit.edu	37	14	75360058	75360058	+	Silent	SNP	A	A	T	rs138390049		TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:75360058A>T	ENST00000334220.4	+	9	664	c.603A>T	c.(601-603)gcA>gcT	p.A201A	DLST_ENST00000334212.6_Silent_p.A115A|DLST_ENST00000555190.1_3'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	201					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		CAGTGTCTGCAGTAAAACCCA	0.463000													57	47					0	0	0.870114	0	0
FAM172A	83989	broad.mit.edu	37	5	93294615	93294615	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:93294615G>C	ENST00000395965.3	-	6	576	c.434C>G	c.(433-435)aCa>aGa	p.T145R	FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509163.1_Missense_Mutation_p.T99R|FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000509739.1_Intron	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	145						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						CTGTGGATTTGTCAAAGCATC	0.363000													34	85					0	0	0.859065	0	0
C1orf173	127254	broad.mit.edu	37	1	75038011	75038011	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:75038011T>A	ENST00000326665.5	-	14	3601	c.3383A>T	c.(3382-3384)aAc>aTc	p.N1128I	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1128	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGGTGCTTCGTTCTCAGCATC	0.463000													23	43					0	0	0.681144	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719571	140719571	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:140719571C>A	ENST00000394576.2	+	1	1033	c.1033C>A	c.(1033-1035)Cca>Aca	p.P345T	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)			TGACAATGCCCCAGAATTTTA	0.438000													44	75					1.23713e-20	1.89526e-20	0.870114	1	0
AKR1B10	57016	broad.mit.edu	37	7	134215412	134215412	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:134215412G>T	ENST00000359579.4	+	2	404	c.84G>T	c.(82-84)gtG>gtT	p.V28V	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	28					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TTGGCAAAGTGAAAGAAGCAG	0.478000													28	85					1.99505e-19	3.01406e-19	0.760397	1	0
PCDHA3	56145	broad.mit.edu	37	5	140183086	140183086	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:140183086C>A	ENST00000522353.2	+	1	2304	c.2304C>A	c.(2302-2304)gaC>gaA	p.D768E	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.D768E|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGACCGACCTCATGGCTT	0.572000													36	106					3.2641e-12	4.14128e-12	0.864702	1	0
SARDH	1757	broad.mit.edu	37	9	136532021	136532021	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr9:136532021C>A	ENST00000371868.1	-	8	1650	c.817G>T	c.(817-819)Gcc>Tcc	p.A273S	SARDH_ENST00000439388.1_Intron|SARDH_ENST00000422262.2_Intron|SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000371872.4_Intron			Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	832					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		AAAGCTGGGGCCCCAGAAACC	0.632000													12	3					3.87621e-19	5.81135e-19	0.457914	1	0
ZNF878	729747	broad.mit.edu	37	19	12155757	12155757	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:12155757C>A	ENST00000602107.1	-	5	599	c.600G>T	c.(598-600)agG>agT	p.R200S	ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron			C9JN71	ZN878_HUMAN	zinc finger protein 878	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAACCTGAATGCTT	0.423000													4	152					0.014758	0.0150024	0.184627	1	0
DDR1	780	broad.mit.edu	37	6	30858843	30858843	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:30858843G>T	ENST00000324771.8	+	7	1059	c.511G>T	c.(511-513)Gac>Tac	p.D171Y	DDR1_ENST00000446312.1_Missense_Mutation_p.D171Y|DDR1_ENST00000376568.3_Missense_Mutation_p.D171Y|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000376570.4_Missense_Mutation_p.D171Y|DDR1_ENST00000508312.1_Missense_Mutation_p.D189Y|DDR1_ENST00000418800.2_Missense_Mutation_p.D171Y|DDR1_ENST00000454612.2_Missense_Mutation_p.D171Y|DDR1_ENST00000513240.1_Missense_Mutation_p.D171Y|DDR1_ENST00000376575.3_Missense_Mutation_p.D171Y|DDR1_ENST00000376569.3_Missense_Mutation_p.D171Y|DDR1_ENST00000376567.2_Missense_Mutation_p.D171Y|DDR1_ENST00000452441.1_Missense_Mutation_p.D171Y			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	171	F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCCCCGGGCTGACCGGGTCAT	0.622000													26	72					4.74835e-14	6.3527e-14	0.750413	1	0
TRPV5	56302	broad.mit.edu	37	7	142609700	142609700	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:142609700C>A	ENST00000265310.1	-	13	2084	c.1736G>T	c.(1735-1737)gGc>gTc	p.G579V		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	579					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GTGGGTGTCGCCCATCATGGC	0.532000													49	88					6.3091e-27	1.07375e-26	0.870114	1	0
CALCA	796	broad.mit.edu	37	11	14990345	14990345	+	Silent	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:14990345T>C	ENST00000331587.4	-	4	544	c.426A>G	c.(424-426)taA>taG	p.*142*	CALCA_ENST00000486207.1_Intron|CALCA_ENST00000359642.3_Intron|CALCA_ENST00000396372.2_Silent_p.*142*|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000361010.3_Intron	NM_001741.2	NP_001732.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	0					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	AGGGAGGAGTTTAGTTGGCAT	0.493000													81	171					0	0	0.870114	0	0
GRM1	2911	broad.mit.edu	37	6	146720418	146720418	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:146720418C>A	ENST00000392299.2	+	8	2713	c.2243C>A	c.(2242-2244)aCc>aAc	p.T748N	GRM1_ENST00000282753.1_Missense_Mutation_p.T748N|GRM1_ENST00000361719.2_Missense_Mutation_p.T748N|GRM1_ENST00000355289.4_Missense_Mutation_p.T748N|GRM1_ENST00000492807.2_Missense_Mutation_p.T748N|GRM1_ENST00000507907.1_Missense_Mutation_p.T748N			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	748					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ATCTGCAATACCAGCAACCTG	0.522000													51	30					1.11378e-47	2.19625e-47	0.870114	1	0
NAV1	89796	broad.mit.edu	37	1	201779198	201779198	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:201779198G>A	ENST00000367296.4	+	23	4946	c.4526G>A	c.(4525-4527)cGt>cAt	p.R1509H	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.R1462H|NAV1_ENST00000295624.6_Missense_Mutation_p.R1506H|NAV1_ENST00000367297.4_Missense_Mutation_p.R1501H|NAV1_ENST00000367295.1_Missense_Mutation_p.R1115H|NAV1_ENST00000367300.3_Missense_Mutation_p.R1449H	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1509					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCTCCTTGCCGTCGAGGTGTC	0.532000													5	171					0	0	0.248553	0	0
BAGE2	85319	broad.mit.edu	37	21	11039271	11039271	+	RNA	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr21:11039271G>A	ENST00000470054.1	-	0	932									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGTTGCTCTTGCTGCACAGTG	0.398000													16	323					0	0	0.539581	0	0
OR6K2	81448	broad.mit.edu	37	1	158669978	158669978	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:158669978G>T	ENST00000359610.2	-	1	508	c.465C>A	c.(463-465)ccC>ccA	p.P155P		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	155					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)					TCTCAGGAAGGGGTGTGATAA	0.488000													52	89					9.10829e-22	1.43109e-21	0.870114	1	0
DDX18	8886	broad.mit.edu	37	2	118579753	118579753	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:118579753C>A	ENST00000263239.2	+	7	1110	c.982C>A	c.(982-984)Cag>Aag	p.Q328K	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	328	Helicase ATP-binding.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TAAAAACCTGCAGTGTCTGGT	0.353000													20	74					9.95505e-16	1.38862e-15	0.624587	1	0
ACTN2	88	broad.mit.edu	37	1	236914775	236914775	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:236914775G>T	ENST00000366578.4	+	15	1828	c.1662G>T	c.(1660-1662)ctG>ctT	p.L554L	ACTN2_ENST00000546208.1_Silent_p.L48L|ACTN2_ENST00000542672.1_Silent_p.L554L	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	554					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGTAGAGTCTGATCACTGCGC	0.507000													12	70					1.49906e-05	1.63928e-05	0.457914	1	0
BRINP2	57795	broad.mit.edu	37	1	177247912	177247912	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:177247912C>A	ENST00000361539.4	+	7	1538	c.1226C>A	c.(1225-1227)cCc>cAc	p.P409H	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		409						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TTCCGCCTGCCCAAGGAGAGG	0.607000													14	66					3.27435e-08	3.77396e-08	0.457914	1	0
SLC5A12	159963	broad.mit.edu	37	11	26734192	26734192	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:26734192T>A	ENST00000396005.3	-	2	710	c.401A>T	c.(400-402)cAg>cTg	p.Q134L	SLC5A12_ENST00000280467.6_Missense_Mutation_p.Q134L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	134					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ACTTACCGTCTGTACAATGTA	0.423000													235	523					0	0	0.870114	0	0
LRFN5	145581	broad.mit.edu	37	14	42360541	42360541	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:42360541G>C	ENST00000298119.4	+	4	2663	c.1474G>C	c.(1474-1476)Gat>Cat	p.D492H	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	492	Fibronectin type-III.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CATATATGATGATGGCATCAC	0.443000										HNSCC(30;0.082)			61	193					0	0	0.870114	0	0
PRRC2B	84726	broad.mit.edu	37	9	134360132	134360132	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr9:134360132C>T	ENST00000357304.4	+	23	5575	c.5520C>T	c.(5518-5520)atC>atT	p.I1840I	PRRC2B_ENST00000405995.1_Silent_p.I1146I|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Silent_p.I1146I	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1840							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGAGGGCCATCGGTCTCTCCC	0.567000													7	195					0	0	0.278610	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42105173	42105173	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr15:42105173C>A	ENST00000457542.2	+	8	979	c.693C>A	c.(691-693)aaC>aaA	p.N231K	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.N231K|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.N231K|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.N119K|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.N231K	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	231										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGCTACGGAACAACCTATTCA	0.592000													45	43					7.05377e-20	1.0706e-19	0.870114	1	0
BRCA1	672	broad.mit.edu	37	17	41245945	41245945	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:41245945C>A	ENST00000309486.4	-	9	1742	c.715G>T	c.(715-717)Gga>Tga	p.G239*	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000357654.3_Nonsense_Mutation_p.G535*|BRCA1_ENST00000354071.3_Nonsense_Mutation_p.G535*|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000471181.2_Nonsense_Mutation_p.G535*|BRCA1_ENST00000346315.3_Nonsense_Mutation_p.G535*|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.G488*	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	535			H -> R.		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)		TGGTTAGTTCCCTGATTTATC	0.363000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			12	29					1.5842e-08	1.84323e-08	0.435327	1	0
GRIA3	2892	broad.mit.edu	37	X	122616715	122616715	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:122616715G>T	ENST00000264357.5	+	15	2797	c.2505G>T	c.(2503-2505)ctG>ctT	p.L835L	GRIA3_ENST00000371251.1_Silent_p.L835L|GRIA3_ENST00000371256.5_Silent_p.L835L|GRIA3_ENST00000542149.1_3'UTR	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	835					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TCGGAGGTCTGGGGCTGGCCA	0.473000													22	87					8.10497e-08	9.28714e-08	0.592651	1	0
VAV3	10451	broad.mit.edu	37	1	108247659	108247659	+	Silent	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:108247659T>A	ENST00000370056.4	-	16	1801	c.1527A>T	c.(1525-1527)gcA>gcT	p.A509A	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Silent_p.A444A|VAV3_ENST00000527011.1_Silent_p.A509A	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	509					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AATTGGAGTCTGCATAGTCTG	0.398000													36	30					0	0	0.847076	0	0
LPCAT2	54947	broad.mit.edu	37	16	55613154	55613154	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:55613154A>G	ENST00000262134.5	+	13	1632	c.1448A>G	c.(1447-1449)tAt>tGt	p.Y483C	LPCAT2_ENST00000565056.1_3'UTR	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	483					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						TCAATTTCCTATGGTGAGTAG	0.453000													9	22					0	0	0.307466	0	0
TREM2	54209	broad.mit.edu	37	6	41126749	41126749	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:41126749C>G	ENST00000373113.3	-	4	631	c.538G>C	c.(538-540)Gcc>Ccc	p.A180P	TREM2_ENST00000373122.4_Missense_Mutation_p.G193A|TREM2_ENST00000338469.3_Intron	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	180					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	p.A180T(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAGATGCAGGCCAGGAGGAGA	0.567000													5	23					0	0	0.248553	0	0
SKAP2	8935	broad.mit.edu	37	7	26766626	26766626	+	Splice_Site	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:26766626C>A	ENST00000345317.2	-	7	783		c.e7-1		SKAP2_ENST00000539623.1_Splice_Site|SKAP2_ENST00000489977.1_Splice_Site	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2						B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TGTTGTTTGTCTGTTGAAGAT	0.289000													17	67					1.28384e-07	1.46256e-07	0.608945	1	0
IPO5	3843	broad.mit.edu	37	13	98673309	98673309	+	Silent	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr13:98673309G>C	ENST00000261574.5	+	28	3363	c.3183G>C	c.(3181-3183)gcG>gcC	p.A1061A	IPO5_ENST00000539640.1_Silent_p.A918A|IPO5_ENST00000490680.1_Silent_p.A1043A	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	1043					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTATAATTGCGGAAGGAGAAA	0.388000													52	261					0	0	0.870114	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14803810	14803810	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:14803810T>A	ENST00000358984.4	+	24	2451	c.2271T>A	c.(2269-2271)agT>agA	p.S757R	ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	842										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATACCTTAAGTGGAAAATTAG	0.328000													4	23					0	0	0.217242	0	0
ANO7	50636	broad.mit.edu	37	2	242149781	242149781	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:242149781G>T	ENST00000274979.8	+	14	1696	c.1593G>T	c.(1591-1593)agG>agT	p.R531S	ANO7_ENST00000402430.3_Missense_Mutation_p.R530S	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	531						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TGGTGTCCAGGTCGGGCAACA	0.677000													12	42					2.23348e-06	2.46436e-06	0.500413	1	0
CCER1	196477	broad.mit.edu	37	12	91348329	91348329	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:91348329C>T	ENST00000358859.2	-	1	624	c.191G>A	c.(190-192)aGg>aAg	p.R64K	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		CGGCTGCTTCCTTGGGGGCCC	0.652000													11	35					0	0	0.457914	0	0
USP51	158880	broad.mit.edu	37	X	55514652	55514652	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:55514652T>A	ENST00000500968.3	-	2	803	c.721A>T	c.(721-723)Acc>Tcc	p.T241S	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	241					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						TTCATATGGGTACTACATACG	0.448000													14	91					0	0	0.500413	0	0
INHBA	3624	broad.mit.edu	37	7	41729708	41729708	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:41729708C>A	ENST00000242208.4	-	3	1067	c.821G>T	c.(820-822)gGa>gTa	p.G274V	INHBA_ENST00000442711.1_Missense_Mutation_p.G274V|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	274					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.G274V(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						accttcacctccgcccttctt	0.592000										TSP Lung(11;0.080)			16	34					2.31682e-05	2.51673e-05	0.479597	1	0
WDR59	79726	broad.mit.edu	37	16	74972089	74972089	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:74972089C>A	ENST00000262144.6	-	8	740	c.610G>T	c.(610-612)Gag>Tag	p.E204*		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	204										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AGAATGTGCTCGCTGTCTGGG	0.517000													34	181					6.04917e-29	1.05138e-28	0.827153	1	0
TENM4	26011	broad.mit.edu	37	11	78380424	78380424	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:78380424C>A	ENST00000278550.7	-	32	7428	c.6966G>T	c.(6964-6966)aaG>aaT	p.K2322N		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GGTGGGTGACCTTGGTGGGGT	0.582000													101	154					1.70186e-65	3.50362e-65	0.870114	1	0
AFM	173	broad.mit.edu	37	4	74361146	74361146	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:74361146C>T	ENST00000226355.3	+	9	1281	c.1188C>T	c.(1186-1188)taC>taT	p.Y396Y		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	396	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTTACCGTTACGCGGTAGGTT	0.383000													27	41					0	0	0.740014	0	0
SERPINA3	12	broad.mit.edu	37	14	95081008	95081008	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:95081008C>A	ENST00000553947.1	+	5	1193	c.305C>A	c.(304-306)cCa>cAa	p.P102Q	SERPINA3_ENST00000393080.4_Missense_Mutation_p.P77Q|SERPINA3_ENST00000393078.3_Missense_Mutation_p.P77Q|SERPINA3_ENST00000467132.1_Missense_Mutation_p.P77Q|SERPINA3_ENST00000556388.1_Intron			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	77					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ATCTTCTCCCCACTGAGCATC	0.547000													31	83					7.61165e-28	1.30904e-27	0.788014	1	0
TMEM156	80008	broad.mit.edu	37	4	38972700	38972700	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:38972700G>T	ENST00000381938.3	-	6	988	c.881C>A	c.(880-882)cCa>cAa	p.P294Q		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	294						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TTATAGTTCTGGAATTGGGGG	0.393000													55	28					2.10938e-32	3.77995e-32	0.870114	1	0
XIAP	331	broad.mit.edu	37	X	123019993	123019993	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:123019993T>A	ENST00000371199.3	+	2	780	c.481T>A	c.(481-483)Tat>Aat	p.Y161N	XIAP_ENST00000434753.3_Missense_Mutation_p.Y161N|XIAP_ENST00000355640.3_Missense_Mutation_p.Y161N|XIAP_ENST00000468691.1_Intron	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	161					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						CCCTGCCATGTATAGTGAAGA	0.458000									X-linked Lymphoproliferative syndrome				19	82					0	0	0.624587	0	0
SYNE2	23224	broad.mit.edu	37	14	64468754	64468754	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:64468754G>T	ENST00000358025.3	+	29	3971	c.3741G>T	c.(3739-3741)caG>caT	p.Q1247H	SYNE2_ENST00000344113.4_Missense_Mutation_p.Q1247H|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q1247H|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1247					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGGCCATCCAGGGATTTCATC	0.428000													25	127					9.78306e-22	1.52492e-21	0.740014	1	0
NCKAP5	344148	broad.mit.edu	37	2	133887622	133887622	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:133887622C>A	ENST00000409261.1	-	6	642	c.269G>T	c.(268-270)cGg>cTg	p.R90L	NCKAP5_ENST00000409213.1_Missense_Mutation_p.R90L|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R90L|NCKAP5_ENST00000405974.3_Missense_Mutation_p.R90L	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	90							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						CTCCTGCAACCGCTTCTCGCT	0.463000													19	17					1.56452e-12	1.99787e-12	0.557998	1	0
GPR111	222611	broad.mit.edu	37	6	47649299	47649299	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:47649299C>A	ENST00000398742.2	+	5	849	c.800C>A	c.(799-801)tCc>tAc	p.S267Y	GPR111_ENST00000296862.1_Missense_Mutation_p.S335Y|GPR111_ENST00000507065.1_Missense_Mutation_p.S267Y			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	335					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AAGGTGCCTTCCCCTTCTCAG	0.418000													65	150					8.87156e-34	1.61331e-33	0.870114	1	0
BIRC8	112401	broad.mit.edu	37	19	53793412	53793412	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:53793412C>A	ENST00000426466.1	-	1	1463	c.216G>T	c.(214-216)gaG>gaT	p.E72D		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	72					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		CATGTCCCTTCTCTTCTAGCA	0.428000													37	27					1.22674e-20	1.88228e-20	0.840704	1	0
MGAM	8972	broad.mit.edu	37	7	141759660	141759660	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:141759660C>G	ENST00000475668.2	+	33	4007	c.3953C>G	c.(3952-3954)cCa>cGa	p.P1318R	MGAM_ENST00000549489.2_Missense_Mutation_p.P1318R			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1318	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)	TTTCAGGATCCAGCCATTTCT	0.478000													5	13					0	0	0.217242	0	0
FOXI3	344167	broad.mit.edu	37	2	88751509	88751509	+	RNA	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:88751509G>T	ENST00000398142.3	-	0	622							A8MTJ6	FOXI3_HUMAN	forkhead box I3						epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)	2						TGCTGCGCTGGTAGAAGGGGA	0.622000													10	23					0.00621372	0.00638271	0.335167	1	0
PLA2R1	22925	broad.mit.edu	37	2	160801417	160801417	+	Splice_Site	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:160801417C>G	ENST00000283243.7	-	28	4350	c.4144_splice	c.e28+1	p.D1382_splice	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1382					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTTTACCTACCTGCCTCCATT	0.378000													67	103					0	0	0.870114	0	0
ELTD1	64123	broad.mit.edu	37	1	79402054	79402054	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:79402054A>G	ENST00000370742.3	-	7	866	c.803T>C	c.(802-804)aTt>aCt	p.I268T		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	268					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)		ATGAGGATGAATATGTTTCAT	0.269000													67	73					0	0	0.870114	0	0
ITGB8	3696	broad.mit.edu	37	7	20441523	20441523	+	Silent	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:20441523A>G	ENST00000222573.3	+	10	2145	c.1461A>G	c.(1459-1461)ctA>ctG	p.L487L	ITGB8_ENST00000537992.1_Silent_p.L352L	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	487	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AAACTTTTCTAGATTCCAAGT	0.383000													52	74					0	0	0.870114	0	0
ATRNL1	26033	broad.mit.edu	37	10	117026437	117026437	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:117026437G>T	ENST00000355044.3	+	12	2062	c.1936G>T	c.(1936-1938)Ggg>Tgg	p.G646W		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	646	PSI 1.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTGGGAATCTGGGAATACTAA	0.353000													46	77					7.92265e-33	1.42753e-32	0.870114	1	0
PGR	5241	broad.mit.edu	37	11	100922191	100922191	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:100922191T>G	ENST00000325455.5	-	5	3774	c.2321A>C	c.(2320-2322)cAg>cCg	p.Q774P	PGR_ENST00000263463.5_Missense_Mutation_p.Q672P|PGR_ENST00000534013.1_Missense_Mutation_p.Q180P	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	774	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	ATACAGCATCTGCCCACTGAC	0.338000													67	108					0	0	0.870114	0	0
CRB2	286204	broad.mit.edu	37	9	126125172	126125172	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr9:126125172C>T	ENST00000373631.3	+	2	124	c.123C>T	c.(121-123)gcC>gcT	p.A41A	CRB2_ENST00000359999.3_Silent_p.A41A	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	41						extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCCCCAGTGCCTGTGCCTCAG	0.647000													75	37					0	0	0.870114	0	0
MMP13	4322	broad.mit.edu	37	11	102825983	102825983	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:102825983G>T	ENST00000260302.3	-	2	388	c.360C>A	c.(358-360)taC>taA	p.Y120*	MMP13_ENST00000340273.4_Nonsense_Mutation_p.Y120*	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	120					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TGATTTACCTGTAGGTTAAAT	0.338000													13	81					2.61681e-11	3.23234e-11	0.457914	1	0
ERCC5	2073	broad.mit.edu	37	13	103514782	103514782	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr13:103514782G>T	ENST00000355739.4	+	8	2706	c.1283G>T	c.(1282-1284)aGt>aTt	p.S428I	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.Q853H	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACCGAGAACAGTGATGAAGGA	0.488000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				53	76					9.53615e-21	1.46549e-20	0.870114	1	0
HSPA4L	22824	broad.mit.edu	37	4	128703688	128703688	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:128703688C>A	ENST00000439123.2	+	2	315	c.76C>A	c.(76-78)Cga>Aga	p.R26R	HSPA4L_ENST00000508776.1_5'UTR|HSPA4L_ENST00000296464.3_5'UTR			O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	799					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						ACCAGCAGCCCGACCATCACG	0.587000											OREG0016319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	40					7.93312e-07	8.85264e-07	0.457914	1	0
ZNF716	441234	broad.mit.edu	37	7	57528437	57528437	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:57528437T>A	ENST00000420713.1	+	4	382	c.270T>A	c.(268-270)tgT>tgA	p.C90*		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAGTTACATGTTCTCATTTCA	0.323000													24	93					0	0	0.693898	0	0
CDH19	28513	broad.mit.edu	37	18	64239298	64239298	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:64239298G>T	ENST00000262150.2	-	2	436	c.144C>A	c.(142-144)aaC>aaA	p.N48K	CDH19_ENST00000540086.1_Missense_Mutation_p.N48K	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	48	Cadherin 1.				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)				CAAAAAATTGGTTCCACACCC	0.398000													24	62					4.74835e-14	6.3527e-14	0.750413	1	0
AGMO	392636	broad.mit.edu	37	7	15430512	15430512	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:15430512A>T	ENST00000342526.3	-	7	864	c.695T>A	c.(694-696)aTa>aAa	p.I232K		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	232					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ATTTTTGTCTATGCAATAACG	0.244000													5	28					0	0	0.278610	0	0
KRT16	3868	broad.mit.edu	37	17	39767202	39767202	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:39767202G>T	ENST00000301653.4	-	5	1027	c.963C>A	c.(961-963)tcC>tcA	p.S321S		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	321	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GTTCGCTGTTGGAGGCCACTT	0.602000													15	39					1.02788e-11	1.28257e-11	0.520397	1	0
ZNF37BP	100129482	broad.mit.edu	37	10	43046051	43046051	+	RNA	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:43046051C>A	ENST00000473592.1	-	0	2205																											CAGAGAAAACCGAGAGGGTGT	0.378000													16	9					6.49762e-13	8.35165e-13	0.539581	1	0
PPP2R2B	5521	broad.mit.edu	37	5	145969691	145969691	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:145969691G>T	ENST00000394413.3	-	9	1721	c.1151C>A	c.(1150-1152)cCc>cAc	p.P384H	PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.P384H|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.P384H|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.P450H|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.P384H|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.P387H|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.P373H|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.P373H|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.P442H|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.P390H			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	384					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATAGCCCGGGGCTTGCTGTT	0.502000													46	72					1.86277e-20	2.84928e-20	0.870114	1	0
HSD3B2	3284	broad.mit.edu	37	1	119964561	119964561	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:119964561T>A	ENST00000543831.1	+	4	686	c.437T>A	c.(436-438)cTg>cAg	p.L146Q	HSD3B2_ENST00000369416.3_Missense_Mutation_p.L146Q	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	146					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GAAGAGCCTCTGGAAAACACA	0.512000													107	115					0	0	0.870114	0	0
HEPH	9843	broad.mit.edu	37	X	65417556	65417556	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:65417556C>A	ENST00000519389.1	+	10	1874	c.1695C>A	c.(1693-1695)ccC>ccA	p.P565P	HEPH_ENST00000374727.3_Silent_p.P514P|HEPH_ENST00000343002.2_Silent_p.P511P|HEPH_ENST00000441993.2_Silent_p.P514P|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000336279.5_Silent_p.P244P			Q9BQS7	HEPH_HUMAN	hephaestin	511					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						TTGCCAAGCCCTTTGAGAAAG	0.483000													16	101					2.32416e-17	3.35636e-17	0.624587	1	0
MPDZ	8777	broad.mit.edu	37	9	13188804	13188804	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr9:13188804T>C	ENST00000319217.7	-	17	2590	c.2343A>G	c.(2341-2343)atA>atG	p.I781M	MPDZ_ENST00000381015.4_Missense_Mutation_p.I781M|MPDZ_ENST00000536827.1_Missense_Mutation_p.I781M|MPDZ_ENST00000541718.1_Missense_Mutation_p.I781M|MPDZ_ENST00000546205.1_Missense_Mutation_p.I781M|MPDZ_ENST00000447879.1_Missense_Mutation_p.I781M|MPDZ_ENST00000381022.2_Missense_Mutation_p.I781M	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	781	PDZ 5.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TAGCAACTCCTATTCTCACAG	0.413000													3	160					0	0	0.115264	0	0
DAB1	1600	broad.mit.edu	37	1	57480983	57480983	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:57480983G>T	ENST00000371236.2	-	12	1280	c.1017C>A	c.(1015-1017)atC>atA	p.I339I	DAB1_ENST00000420954.2_Silent_p.I337I|DAB1_ENST00000371231.1_Silent_p.I372I|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Silent_p.I321I|DAB1_ENST00000371234.4_Silent_p.I339I|DAB1_ENST00000439789.2_Silent_p.I253I			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	372					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGCCCCATGCGATGGGCTGAG	0.652000													22	61					1.66031e-10	2.00544e-10	0.667858	1	0
SLITRK6	84189	broad.mit.edu	37	13	86369842	86369842	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr13:86369842G>A	ENST00000400286.2	-	2	1400	c.802C>T	c.(802-804)Cct>Tct	p.P268S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	268	LRRCT 1.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GGTGGAGTAGGGCAAATAGAT	0.408000													16	86					0	0	0.500413	0	0
MLLT10	8028	broad.mit.edu	37	10	22002874	22002874	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:22002874A>G	ENST00000377072.3	+	15	2269	c.1921A>G	c.(1921-1923)Act>Gct	p.T641A	MLLT10_ENST00000446906.2_Missense_Mutation_p.T625A|MLLT10_ENST00000307729.7_Missense_Mutation_p.T625A|MLLT10_ENST00000377059.3_Missense_Mutation_p.T625A	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	641	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGTTGCTACAACTCAGGTAAG	0.468000			T	"""MLL, PICALM, CDK6"""	AL								8	45					0	0	0.278610	0	0
PAFAH2	5051	broad.mit.edu	37	1	26310484	26310484	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:26310484G>A	ENST00000374282.3	-	6	684	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	PAFAH2_ENST00000374284.1_Missense_Mutation_p.R169C|PAFAH2_ENST00000493892.1_5'UTR	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	169					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TCAACTCGACGGAAAGGGATC	0.537000													6	340					0	0	0.278610	0	0
TJP1	7082	broad.mit.edu	37	15	30024889	30024889	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr15:30024889C>A	ENST00000346128.6	-	14	2341	c.1867G>T	c.(1867-1869)Gct>Tct	p.A623S	TJP1_ENST00000356107.6_Missense_Mutation_p.A623S|TJP1_ENST00000400011.2_Missense_Mutation_p.A627S|TJP1_ENST00000545208.2_Missense_Mutation_p.A623S	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	623	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ACAGGCTGAGCGGACAAATCC	0.433000													41	20					1.51926e-22	2.41019e-22	0.870114	1	0
GNAS	2778	broad.mit.edu	37	20	57428478	57428478	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr20:57428478C>A	ENST00000371100.4	+	1	710	c.158C>A	c.(157-159)cCg>cAg	p.P53Q	GNAS_ENST00000313949.7_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.P53Q|GNAS_ENST00000371102.4_Missense_Mutation_p.P53Q|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371075.3_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GAGACCGAACCGCCTCACAAC	0.647000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			7	2					0.27861	0.279464	0.278610	1	0
C2orf71	388939	broad.mit.edu	37	2	29294463	29294463	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:29294463G>T	ENST00000331664.5	-	1	2664	c.2665C>A	c.(2665-2667)Ctg>Atg	p.L889M		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	889					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AGCAAGTCCAGGGGGCTCACA	0.667000													20	18					1.40151e-16	1.99173e-16	0.592651	1	0
HACE1	57531	broad.mit.edu	37	6	105243556	105243556	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:105243556C>A	ENST00000262903.4	-	10	1097	c.821G>T	c.(820-822)cGg>cTg	p.R274L	HACE1_ENST00000369125.2_Missense_Mutation_p.R274L	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	274					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CAGAACTTGCCGTAACTAAAT	0.313000													16	12					2.32078e-09	2.74249e-09	0.479597	1	0
SLC35E3	55508	broad.mit.edu	37	12	69145965	69145965	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:69145965G>T	ENST00000398004.2	+	3	939	c.667G>T	c.(667-669)Gct>Tct	p.A223S	SLC35E3_ENST00000538043.1_3'UTR	NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	223						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			GTCAGTTTCTGCTTTGGTAAG	0.398000													39	195					1.19451e-25	1.98815e-25	0.870114	1	0
C7orf62	219557	broad.mit.edu	37	7	88423754	88423754	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:88423754T>A	ENST00000297203.2	-	2	688	c.503A>T	c.(502-504)aAg>aTg	p.K168M	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	168										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GATGACCTCCTTTAGGGACTG	0.408000													83	136					0	0	0.870114	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29857403	29857403	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:29857403C>T	ENST00000325874.8	+	14	1942	c.1713C>T	c.(1711-1713)agC>agT	p.S571S	RAB11FIP4_ENST00000394744.2_Silent_p.S469S	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	571	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TGAGCCTCAGCCTCTACGAAG	0.542000													63	32					0	0	0.870114	0	0
FLG2	388698	broad.mit.edu	37	1	152328348	152328348	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:152328348C>A	ENST00000388718.5	-	3	1986	c.1914G>T	c.(1912-1914)caG>caT	p.Q638H	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	638	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCAGATGTCTGTCTAGACC	0.498000													181	246					1.38188e-86	2.89959e-86	0.870114	1	0
DNAH5	1767	broad.mit.edu	37	5	13866355	13866355	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:13866355C>A	ENST00000265104.4	-	26	4194	c.4090G>T	c.(4090-4092)Gcc>Tcc	p.A1364S	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1364	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGTCACTGGCTTCCTGGGGC	0.338000									Kartagener syndrome				32	27					7.61001e-30	1.33686e-29	0.812448	1	0
TMEM255A	55026	broad.mit.edu	37	X	119427897	119427897	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:119427897C>A	ENST00000371369.4	-	3	437	c.211G>T	c.(211-213)Gga>Tga	p.G71*	TMEM255A_ENST00000309720.5_Nonsense_Mutation_p.G71*|TMEM255A_ENST00000440464.1_Nonsense_Mutation_p.G71*	NM_001104544.1	NP_001098014.1			transmembrane protein 255A																		AGGAACGATCCAAAGCCGAGC	0.408000													33	85					2.42038e-35	4.45097e-35	0.834066	1	0
OR2W3	343171	broad.mit.edu	37	1	248059119	248059119	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:248059119C>A	ENST00000537741.1	+	3	488	c.231C>A	c.(229-231)tcC>tcA	p.S77S	OR2W3_ENST00000360358.3_Silent_p.S77S			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCACCAGCTCCATCCCCCAGC	0.582000													113	171					4.31759e-32	7.69486e-32	0.870114	1	0
AC007040.8	0	broad.mit.edu	37	2	71256119	71256119	+	RNA	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:71256119C>A	ENST00000434990.1	-	0	61																											CTCAGAGGATCCAGAACTGCA	0.557000													4	13					0.27861	0.279464	0.278610	1	0
PADI4	23569	broad.mit.edu	37	1	17681031	17681031	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:17681031C>A	ENST00000375448.4	+	11	1185	c.1159C>A	c.(1159-1161)Cca>Aca	p.P387T	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	387					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	ATCTCAGGGTCCAGATTTTGG	0.557000													52	158					2.22609e-26	3.76251e-26	0.870114	1	0
MGAT5B	146664	broad.mit.edu	37	17	74936813	74936813	+	Splice_Site	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:74936813G>T	ENST00000569840.2	+	15	2305		c.e15-1		MGAT5B_ENST00000301618.4_Splice_Site|MGAT5B_ENST00000428789.2_Splice_Site	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B							Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCCTTGCCAGGTGTTCTCCC	0.557000													144	96					1.29035e-83	2.696e-83	0.870114	1	0
TTN	7273	broad.mit.edu	37	2	179442794	179442794	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:179442794G>A	ENST00000589042.1	-	322	68672	c.68448C>T	c.(68446-68448)ttC>ttT	p.F22816F	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.F21175F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.F20248F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.F13751F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.F13876F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.F13943F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21175	Ig-like 117.			A -> D (in Ref. 1; CAA62188).			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)			CCATAACTCGGAATTCATATT	0.423000													19	51					0	0	0.654019	0	0
SLC34A1	6569	broad.mit.edu	37	5	176813016	176813016	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:176813016C>A	ENST00000324417.5	+	3	229	c.138C>A	c.(136-138)gcC>gcA	p.A46A	SLC34A1_ENST00000512593.1_Silent_p.A46A	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	46					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACCTCTGCCTATGCCTTCC	0.687000													19	53					1.50039e-11	1.86033e-11	0.608945	1	0
F9	2158	broad.mit.edu	37	X	138633377	138633377	+	Missense_Mutation	SNP	G	G	T	rs137852241		TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:138633377G>T	ENST00000218099.2	+	6	684	c.677G>T	c.(676-678)cGg>cTg	p.R226L	F9_ENST00000394090.2_Missense_Mutation_p.R188L	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	226		Cleavage; by factor XIa.	R -> G (in HEMB; severe; Madrid).|R -> Q (in HEMB; severe; Hilo and Novara).|R -> W (in HEMB; severe; Nagoya-1, Dernbach, Deventer, Idaho, etc.).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GACTTCACTCGGGTTGTTGGT	0.438000													75	86					5.01286e-43	9.67117e-43	0.870114	1	0
PCNXL2	80003	broad.mit.edu	37	1	233386536	233386536	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:233386536T>G	ENST00000258229.8	-	8	2405	c.2171A>C	c.(2170-2172)gAa>gCa	p.E724A	PCNXL2_ENST00000430153.1_Missense_Mutation_p.E23A	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	724						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TAAAGGGCCTTCTTTCTGATT	0.388000													12	13					0	0	0.500413	0	0
TMEM255A	55026	broad.mit.edu	37	X	119438208	119438208	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:119438208A>T	ENST00000371369.4	-	2	423	c.197T>A	c.(196-198)gTt>gAt	p.V66D	TMEM255A_ENST00000309720.5_Missense_Mutation_p.V66D|TMEM255A_ENST00000440464.1_Missense_Mutation_p.V66D	NM_001104544.1	NP_001098014.1			transmembrane protein 255A																		ACTTACAATAACTCCGGGGTA	0.458000													63	193					0	0	0.870114	0	0
PABPC3	5042	broad.mit.edu	37	13	25672141	25672141	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr13:25672141T>C	ENST00000281589.3	+	1	1842	c.1805T>C	c.(1804-1806)gTt>gCt	p.V602A		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	602	PABC.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CGTTCTAAGGTTGATGAAGCT	0.438000													41	124					0	0	0.870114	0	0
NOX4	50507	broad.mit.edu	37	11	89060019	89060019	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:89060019C>A	ENST00000535633.1	-	18	1880	c.1570G>T	c.(1570-1572)Gga>Tga	p.G524*	NOX4_ENST00000542487.1_Nonsense_Mutation_p.G524*|NOX4_ENST00000532825.1_Nonsense_Mutation_p.G484*|NOX4_ENST00000263317.4_Nonsense_Mutation_p.G548*|NOX4_ENST00000424319.1_Nonsense_Mutation_p.G524*|NOX4_ENST00000527626.1_Nonsense_Mutation_p.G361*|NOX4_ENST00000343727.5_Nonsense_Mutation_p.G524*|NOX4_ENST00000525196.1_Nonsense_Mutation_p.G312*|NOX4_ENST00000527956.1_Nonsense_Mutation_p.G524*|NOX4_ENST00000413594.2_Nonsense_Mutation_p.G569*|NOX4_ENST00000534731.1_Nonsense_Mutation_p.G508*|NOX4_ENST00000531342.1_Nonsense_Mutation_p.G201*|NOX4_ENST00000375979.3_Nonsense_Mutation_p.G241*|NOX4_ENST00000528341.1_Nonsense_Mutation_p.G523*	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	548	Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GAATTGGGTCCACAACAGAAA	0.358000													28	57					8.88839e-20	1.34698e-19	0.750413	1	0
OR4B1	119765	broad.mit.edu	37	11	48238839	48238839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:48238839G>T	ENST00000309562.2	+	1	496	c.478G>T	c.(478-480)Gtt>Ttt	p.V160F		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCAGATTCTCGTTATCATCCA	0.468000													70	36					3.54697e-40	6.76335e-40	0.870114	1	0
SERPINI2	5276	broad.mit.edu	37	3	167170811	167170811	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:167170811C>G	ENST00000476257.1	-	7	1175	c.877G>C	c.(877-879)Gaa>Caa	p.E293Q	SERPINI2_ENST00000461846.1_Missense_Mutation_p.E293Q|SERPINI2_ENST00000264677.4_Missense_Mutation_p.E293Q|SERPINI2_ENST00000471111.1_Missense_Mutation_p.E293Q			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	293					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ACTTTTTGTTCTACTTTAAAT	0.299000													7	19					0	0	0.278610	0	0
DNAH10	196385	broad.mit.edu	37	12	124333381	124333381	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:124333381G>T	ENST00000409039.3	+	33	5725	c.5700G>T	c.(5698-5700)caG>caT	p.Q1900H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1900	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCTCCTCCCAGATCCAGACGA	0.532000													11	26					3.27435e-08	3.77396e-08	0.457914	1	0
PHKA1	5255	broad.mit.edu	37	X	71932665	71932665	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:71932665C>A	ENST00000373545.3	-	2	631	c.193G>T	c.(193-195)Gca>Tca	p.A65S	PHKA1_ENST00000373542.4_Missense_Mutation_p.A65S|PHKA1_ENST00000373539.3_Missense_Mutation_p.A65S|PHKA1_ENST00000339490.3_Missense_Mutation_p.A65S|PHKA1_ENST00000541944.1_Missense_Mutation_p.A65S			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	65					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.A65T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TCCCGGTCTGCATTCTTCCGA	0.488000													13	36					1.5739e-10	1.90575e-10	0.500413	1	0
CDH10	1008	broad.mit.edu	37	5	24488158	24488158	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:24488158C>A	ENST00000264463.4	-	12	2488	c.1981G>T	c.(1981-1983)Ggt>Tgt	p.G661C	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	661					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)		TCTCCACCACCCTCATCGTTA	0.458000										HNSCC(23;0.051)			70	55					3.33908e-46	6.54485e-46	0.870114	1	0
NPAP1	23742	broad.mit.edu	37	15	24922793	24922793	+	Silent	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr15:24922793A>T	ENST00000329468.2	+	1	2253	c.1779A>T	c.(1777-1779)ctA>ctT	p.L593L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CATCTTCCCTAAGCTCCAGAG	0.483000													46	27					0	0	0.870114	0	0
FAM199X	139231	broad.mit.edu	37	X	103434361	103434361	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:103434361C>G	ENST00000493442.1	+	6	1235	c.1069C>G	c.(1069-1071)Cgg>Ggg	p.R357G	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	357										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GAGGCAGGCCCGGAAGGAGAG	0.478000													38	71					0	0	0.827153	0	0
PLXNA4	91584	broad.mit.edu	37	7	131925860	131925860	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:131925860G>T	ENST00000359827.3	-	5	2531	c.1569C>A	c.(1567-1569)ggC>ggA	p.G523G	PLXNA4_ENST00000321063.4_Silent_p.G523G			Q9HCM2	PLXA4_HUMAN	plexin A4	523	PSI 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGTGGGGGTCGCCTGAGCCAA	0.592000													12	68					4.36969e-10	5.22024e-10	0.435327	1	0
ADD3	120	broad.mit.edu	37	10	111879257	111879257	+	Missense_Mutation	SNP	C	C	T	rs141823944	by1000genomes	TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:111879257C>T	ENST00000277900.8	+	8	1260	c.895C>T	c.(895-897)Ctt>Ttt	p.L299F	ADD3_ENST00000356080.4_Missense_Mutation_p.L299F|ADD3_ENST00000360162.3_Missense_Mutation_p.L299F	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	299						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TGTGGTTGCACTTGGAGAAAC	0.388000													67	181					0	0	0.870114	0	0
ZIC5	85416	broad.mit.edu	37	13	100622598	100622598	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr13:100622598G>C	ENST00000267294.4	-	1	1565	c.1332C>G	c.(1330-1332)caC>caG	p.H444Q		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	444					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCACCGTGACGTGATTCACCA	0.711000													17	24					0	0	0.575678	0	0
CSMD1	64478	broad.mit.edu	37	8	4277543	4277543	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:4277543G>T	ENST00000602557.1	-	3	902	c.347C>A	c.(346-348)tCt>tAt	p.S116Y	CSMD1_ENST00000537824.1_Missense_Mutation_p.S116Y|CSMD1_ENST00000542608.1_Missense_Mutation_p.S116Y|CSMD1_ENST00000602723.1_Missense_Mutation_p.S116Y|CSMD1_ENST00000539096.1_Missense_Mutation_p.S116Y|CSMD1_ENST00000520002.1_Missense_Mutation_p.S116Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.S116Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	116	CUB 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGTGAGGATAGATCCTGTACT	0.393000													5	5					0.000157383	0.000167262	0.278610	1	0
LILRA3	11026	broad.mit.edu	37	19	54802765	54802765	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:54802765G>T	ENST00000391745.1	-	9	1043	c.727C>A	c.(727-729)Cca>Aca	p.P243T	LILRA3_ENST00000391744.3_Missense_Mutation_p.P162T|LILRA3_ENST00000251390.3_Missense_Mutation_p.P226T					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGAGTGATGGCTTCTTAGAA	0.582000													22	18					3.01185e-09	3.54208e-09	0.667858	1	0
JAKMIP1	152789	broad.mit.edu	37	4	6042410	6042410	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:6042410C>A	ENST00000409021.3	-	18	2580	c.2131G>T	c.(2131-2133)Gag>Tag	p.E711*	JAKMIP1_ENST00000409371.3_Nonsense_Mutation_p.E526*	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	482					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCGAGCTCCTCTTCCAGGTAG	0.557000													16	14					3.5997e-14	4.8291e-14	0.624587	1	0
GH2	2689	broad.mit.edu	37	17	61958765	61958765	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:61958765C>A	ENST00000332800.7	-	2	258	c.125G>T	c.(124-126)cGc>cTc	p.R42L	GH2_ENST00000456543.2_Missense_Mutation_p.R42L|GH2_ENST00000423893.2_Missense_Mutation_p.R42L|GH2_ENST00000449787.2_Missense_Mutation_p.R42L	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	42						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GCGACGGGCGCGGAGCATAGC	0.562000													166	238					7.1496e-87	1.50341e-86	0.870114	1	0
MOGAT1	116255	broad.mit.edu	37	2	223554070	223554070	+	Silent	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:223554070G>C	ENST00000446656.3	+	3	360	c.360G>C	c.(358-360)ggG>ggC	p.G120G		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	120					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		GAGCCTTTGGGAATTTTTCTG	0.413000													21	23					0	0	0.624587	0	0
COL14A1	7373	broad.mit.edu	37	8	121228657	121228657	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:121228657G>T	ENST00000297848.3	+	14	1935	c.1665G>T	c.(1663-1665)tgG>tgT	p.W555C	COL14A1_ENST00000247781.3_Missense_Mutation_p.W460C|COL14A1_ENST00000309791.4_Missense_Mutation_p.W555C|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	555	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATTAACCTGGGACCCAACTT	0.373000													55	75					1.7104e-27	2.92615e-27	0.870114	1	0
PDLIM5	10611	broad.mit.edu	37	4	95444880	95444880	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:95444880A>T	ENST00000317968.4	+	3	238	c.102A>T	c.(100-102)aaA>aaT	p.K34N	PDLIM5_ENST00000450793.1_Missense_Mutation_p.K34N|PDLIM5_ENST00000437932.1_Missense_Mutation_p.K34N|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000508216.1_Missense_Mutation_p.K34N|PDLIM5_ENST00000538141.1_Missense_Mutation_p.K34N|PDLIM5_ENST00000514743.1_Missense_Mutation_p.K34N|PDLIM5_ENST00000380180.3_Missense_Mutation_p.K34N|PDLIM5_ENST00000318007.5_Missense_Mutation_p.K34N	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	34	PDZ.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TACAGCTAAAAGATGGCGGCA	0.348000													12	42					0	0	0.457914	0	0
RBMXL1	494115	broad.mit.edu	37	1	89449133	89449133	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:89449133C>A	ENST00000399794.2	-	3	1092	c.377G>T	c.(376-378)gGa>gTa	p.G126V	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.G126V|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000413769.1_5'UTR	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	126							nucleotide binding|RNA binding										CATGTGTCCTCCTCGTGAAGG	0.527000													85	117					1.29119e-40	2.46682e-40	0.870114	1	0
PARVB	29780	broad.mit.edu	37	22	44532399	44532399	+	Splice_Site	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr22:44532399G>T	ENST00000338758.6	+	7	755		c.e7+1		PARVB_ENST00000404989.1_Splice_Site|PARVB_ENST00000406477.3_Splice_Site	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta						cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				CAACTACAGAGTAAGTGGACC	0.587000													35	158					9.14704e-12	1.14425e-11	0.840704	1	0
ARHGAP20	57569	broad.mit.edu	37	11	110461422	110461422	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:110461422C>A	ENST00000260283.4	-	12	1539	c.1255G>T	c.(1255-1257)Gaa>Taa	p.E419*	ARHGAP20_ENST00000524756.1_Nonsense_Mutation_p.E396*|ARHGAP20_ENST00000357139.3_Nonsense_Mutation_p.E393*|ARHGAP20_ENST00000528829.1_Nonsense_Mutation_p.E383*|ARHGAP20_ENST00000533353.1_Nonsense_Mutation_p.E393*|ARHGAP20_ENST00000527598.1_Nonsense_Mutation_p.E383*	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	419	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AGGTGTACTTCGACTCCAGAA	0.398000													28	81					7.16026e-08	8.22383e-08	0.760397	1	0
CDR1	1038	broad.mit.edu	37	X	139866394	139866394	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:139866394C>A	ENST00000370532.2	-	1	329	c.138G>T	c.(136-138)atG>atT	p.M46I		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	46	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)				CCATGTCTTCCATCAAATTAA	0.438000													74	82					5.66823e-36	1.04628e-35	0.870114	1	0
DIP2C	22982	broad.mit.edu	37	10	468768	468768	+	Silent	SNP	G	G	A	rs149263097		TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:468768G>A	ENST00000280886.6	-	5	687	c.600C>T	c.(598-600)caC>caT	p.H200H	DIP2C_ENST00000381496.3_Silent_p.H93H	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	200						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCTCACCTATGTGGGTCTGAG	0.607000													27	115					0	0	0.706142	0	0
TRIM51	84767	broad.mit.edu	37	11	55653689	55653689	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:55653689T>A	ENST00000449290.2	+	3	594	c.502T>A	c.(502-504)Tgg>Agg	p.W168R	TRIM51_ENST00000244891.3_Missense_Mutation_p.W25R	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	168						intracellular	zinc ion binding										AACCAGATGCTGGAAGGTTAG	0.393000													49	55					0	0	0.870114	0	0
C20orf197	284756	broad.mit.edu	37	20	58645681	58645681	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr20:58645681C>G	ENST00000313426.1	+	4	405	c.99C>G	c.(97-99)taC>taG	p.Y33*		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	33										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			ACAGACAGTACAATGACAAAT	0.358000													59	111					0	0	0.870114	0	0
NMUR2	56923	broad.mit.edu	37	5	151771965	151771965	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:151771965G>T	ENST00000255262.3	-	4	1200	c.1035C>A	c.(1033-1035)ttC>ttA	p.F345L		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	345					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			ACTGTTTGTGGAAAGAAGAGA	0.512000													39	86					1.67211e-32	3.00185e-32	0.870114	1	0
HAVCR1	26762	broad.mit.edu	37	5	156479450	156479450	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:156479450T>C	ENST00000339252.3	-	3	1127	c.595A>G	c.(595-597)Aca>Gca	p.T199A	HAVCR1_ENST00000425854.1_Missense_Mutation_p.T199A|HAVCR1_ENST00000522693.1_Missense_Mutation_p.T199A|HAVCR1_ENST00000544197.1_Missense_Mutation_p.T199A|HAVCR1_ENST00000523175.1_Missense_Mutation_p.T199A	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	194	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACACTTGTTGTTGTTGGAATG	0.458000													104	232					0	0	0.870114	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532527	84532527	+	RNA	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr9:84532527A>T	ENST00000527857.1	+	0	2549					NR_026851.1																						ACGTTTGAGCAAGAAATTTGA	0.448000													28	45					0	0	0.750413	0	0
DIO3	1735	broad.mit.edu	37	14	102028157	102028157	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:102028157G>T	ENST00000359323.3	+	1	470	c.246G>T	c.(244-246)ctG>ctT	p.L82L	DIO3_ENST00000510508.4_Silent_p.L108L	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	82					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				ACAACCGCCTGTGCACCCTGG	0.677000													25	58					2.85442e-18	4.18364e-18	0.750413	1	0
LMOD3	56203	broad.mit.edu	37	3	69171325	69171325	+	Silent	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:69171325A>T	ENST00000420581.2	-	1	392	c.213T>A	c.(211-213)ctT>ctA	p.L71L	LMOD3_ENST00000475434.1_Silent_p.L71L|LMOD3_ENST00000489031.1_Silent_p.L71L	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	71						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TATAATCAACAAGAGATTTAT	0.458000													4	14					0	0	0.184627	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49143153	49143153	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:49143153G>T	ENST00000055335.6	+	4	2017	c.2001G>T	c.(1999-2001)ggG>ggT	p.G667G	PPP1R3F_ENST00000438316.1_Silent_p.G338G|PPP1R3F_ENST00000466508.1_Silent_p.G321G|PPP1R3F_ENST00000376188.1_Silent_p.G321G|PPP1R3F_ENST00000495799.1_Silent_p.G321G	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	667						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					AGTCCCTGGGGGAGGCCGGGA	0.587000													22	19					9.22233e-05	9.85455e-05	0.681144	1	0
PTCHD3	374308	broad.mit.edu	37	10	27702711	27702711	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:27702711G>T	ENST00000438700.3	-	1	586	c.469C>A	c.(469-471)Ctg>Atg	p.L157M		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	157					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGTAGGTACAGGAAGCCGGTG	0.667000													26	131					2.81305e-35	5.16339e-35	0.870114	1	0
CALCRL	10203	broad.mit.edu	37	2	188225460	188225460	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:188225460G>T	ENST00000409998.1	-	11	1427	c.646C>A	c.(646-648)Cag>Aag	p.Q216K	AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.Q216K|CALCRL_ENST00000410068.1_Missense_Mutation_p.Q216K|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	216						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TGAATGAACTGGGACACTTTG	0.388000													19	38					1.1804e-14	1.60103e-14	0.667858	1	0
GPA33	10223	broad.mit.edu	37	1	167023626	167023626	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:167023626C>A	ENST00000367868.3	-	7	1248	c.905G>T	c.(904-906)aGg>aTg	p.R302M	GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	302						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CTCTTCTTGCCTGTAGTCATC	0.607000													65	170					4.37588e-27	7.46027e-27	0.870114	1	0
GTF3C1	2975	broad.mit.edu	37	16	27475845	27475845	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:27475845C>A	ENST00000356183.4	-	34	5683	c.5668G>T	c.(5668-5670)Gac>Tac	p.D1890Y	GTF3C1_ENST00000561623.1_Missense_Mutation_p.D1890Y	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1890						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AAATTTGAGTCCTGGAGCGCT	0.687000													30	50					7.11191e-15	9.67298e-15	0.769981	1	0
PTPRU	10076	broad.mit.edu	37	1	29609213	29609213	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:29609213G>T	ENST00000356870.3	+	12	2004	c.1894G>T	c.(1894-1896)Gag>Tag	p.E632*	PTPRU_ENST00000345512.3_Nonsense_Mutation_p.E632*|PTPRU_ENST00000428026.2_Nonsense_Mutation_p.E632*|PTPRU_ENST00000323874.8_Nonsense_Mutation_p.E632*|PTPRU_ENST00000460170.2_Nonsense_Mutation_p.E632*|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Nonsense_Mutation_p.E632*	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	632	Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.E632K(3)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGTGGAGGAGGAGCGGGCGCG	0.652000													17	61					2.39187e-15	3.3082e-15	0.575678	1	0
KIF26B	55083	broad.mit.edu	37	1	245865834	245865834	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:245865834G>A	ENST00000366518.4	+	12	5214	c.5110G>A	c.(5110-5112)Gag>Aag	p.E1704K	KIF26B_ENST00000407071.2_Missense_Mutation_p.E2085K			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2085	Ser-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GGAGCGCCTGGAGAGCCGTGT	0.572000													27	68					0	0	0.760397	0	0
MARCH1	55016	broad.mit.edu	37	4	164506963	164506963	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:164506963G>C	ENST00000503008.1	-	6	1337	c.361C>G	c.(361-363)Cgc>Ggc	p.R121G	MARCH1_ENST00000274056.7_Missense_Mutation_p.R121G|MARCH1_ENST00000339875.5_Missense_Mutation_p.R104G|MARCH1_ENST00000514618.1_Missense_Mutation_p.R377G	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	121					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCACAGCAGCGTGTATCTGAG	0.532000													19	96					0	0	0.667858	0	0
PTCHD2	57540	broad.mit.edu	37	1	11584111	11584111	+	Splice_Site	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:11584111G>T	ENST00000294484.6	+	11	2613	c.2476_splice	c.e11+1	p.Q825_splice	PTCHD2_ENST00000389575.3_Splice_Site_p.Q825_splice	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	825					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCACCCTGCAGGGTGAGCACT	0.602000													16	17					3.41278e-10	4.09701e-10	0.520397	1	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													2	2					0	0	0.115264	0	0
ACOT4	122970	broad.mit.edu	37	14	74062121	74062121	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:74062121G>T	ENST00000326303.4	+	3	1283	c.1029G>T	c.(1027-1029)caG>caT	p.Q343H		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	343					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		AACGGTTACAGGCCCATGGAA	0.522000													28	42					4.4194e-11	5.43161e-11	0.769981	1	0
PRKD1	5587	broad.mit.edu	37	14	30100154	30100154	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:30100154G>T	ENST00000331968.5	-	10	1695	c.1466C>A	c.(1465-1467)cCt>cAt	p.P489H	PRKD1_ENST00000415220.2_Missense_Mutation_p.P497H	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	489	PH.				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)		GAAACAATGAGGATTGGCCCC	0.373000													25	87					2.65835e-16	3.75071e-16	0.717897	1	0
NAV3	89795	broad.mit.edu	37	12	78225255	78225255	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:78225255G>T	ENST00000397909.2	+	1	187	c.14G>T	c.(13-15)gGg>gTg	p.G5V	NAV3_ENST00000536525.2_Missense_Mutation_p.G5V|NAV3_ENST00000266692.7_Missense_Mutation_p.G5V|NAV3_ENST00000228327.6_Missense_Mutation_p.G5V			Q8IVL0	NAV3_HUMAN	neuron navigator 3	5						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCTGTTCTTGGGGTTGCCTCA	0.453000										HNSCC(70;0.22)			76	227					5.52927e-58	1.11953e-57	0.870114	1	0
EYA1	2138	broad.mit.edu	37	8	72211875	72211875	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:72211875G>A	ENST00000340726.3	-	8	1276	c.637C>T	c.(637-639)Cag>Tag	p.Q213*	EYA1_ENST00000388743.2_Nonsense_Mutation_p.Q212*|EYA1_ENST00000419131.1_Nonsense_Mutation_p.Q208*|EYA1_ENST00000388742.4_Nonsense_Mutation_p.Q213*|EYA1_ENST00000388740.3_Nonsense_Mutation_p.Q180*|EYA1_ENST00000388741.2_Nonsense_Mutation_p.Q179*|EYA1_ENST00000303824.7_Nonsense_Mutation_p.Q207*	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	213					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TAAATTACCTGCTGTGAACTA	0.289000													30	108					0	0	0.796494	0	0
CACNA1H	8912	broad.mit.edu	37	16	1251719	1251719	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:1251719G>T	ENST00000348261.5	+	9	1517	c.1269G>T	c.(1267-1269)tcG>tcT	p.S423S	CACNA1H_ENST00000358590.4_Silent_p.S423S|CACNA1H_ENST00000565831.1_Silent_p.S423S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	423					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGCAGTTCTCGGAGACGAAGC	0.642000													5	25					0.00307968	0.00318677	0.278610	1	0
FGD1	2245	broad.mit.edu	37	X	54497752	54497752	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:54497752G>A	ENST00000375135.3	-	2	1209	c.476C>T	c.(475-477)cCa>cTa	p.P159L		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	159	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTTACCCTGTGGCTTCGGGCC	0.607000													21	86					0	0	0.681144	0	0
HOXA3	3200	broad.mit.edu	37	7	27148082	27148082	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:27148082G>C	ENST00000396352.4	-	3	983	c.784C>G	c.(784-786)Cag>Gag	p.Q262E	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.Q262E	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	262					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CTTGGAGACTGGCCCCCCGAT	0.597000													62	105					0	0	0.870114	0	0
BRDT	676	broad.mit.edu	37	1	92446459	92446459	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:92446459A>G	ENST00000370389.2	+	10	2179	c.1255A>G	c.(1255-1257)Agg>Ggg	p.R419G	BRDT_ENST00000399546.2_Missense_Mutation_p.R492G|BRDT_ENST00000394530.3_Missense_Mutation_p.R446G|BRDT_ENST00000362005.3_Missense_Mutation_p.R492G|BRDT_ENST00000402388.1_Missense_Mutation_p.R492G	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GCCAAAGAAAAGGAAACAACA	0.299000													11	42					0	0	0.411799	0	0
PCDHA10	56139	broad.mit.edu	37	5	140235923	140235923	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:140235923G>T	ENST00000307360.5	+	1	290	c.290G>T	c.(289-291)cGg>cTg	p.R97L	PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R97L|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGCGGGCGGAGCGTGGAG	0.572000													98	225					5.87034e-48	1.16223e-47	0.870114	1	0
LMX1B	4010	broad.mit.edu	37	9	129458726	129458726	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr9:129458726C>G	ENST00000355497.5	+	8	1224	c.1217C>G	c.(1216-1218)tCc>tGc	p.S406C	LMX1B_ENST00000425646.2_Missense_Mutation_p.S372C|LMX1B_ENST00000373474.4_Missense_Mutation_p.S402C|LMX1B_ENST00000526117.1_Missense_Mutation_p.S395C|LMX1B_ENST00000561065.1_Missense_Mutation_p.S383C	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	379					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						TACTTCGCCTCCTGAGAGCCA	0.706000									Nail-Patella Syndrome				25	78					0	0	0.760397	0	0
CALB1	793	broad.mit.edu	37	8	91090664	91090664	+	Silent	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:91090664A>T	ENST00000265431.3	-	3	349	c.168T>A	c.(166-168)ccT>ccA	p.P56P	CALB1_ENST00000518457.1_5'UTR	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	56	EF-hand 2.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTTTCATTTCAGGTGATAACT	0.299000													35	114					0	0	0.827153	0	0
BPTF	2186	broad.mit.edu	37	17	65909301	65909301	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:65909301G>T	ENST00000321892.4	+	13	5740	c.5679G>T	c.(5677-5679)tgG>tgT	p.W1893C	BPTF_ENST00000335221.5_Missense_Mutation_p.W1893C|BPTF_ENST00000424123.3_Missense_Mutation_p.W1754C|BPTF_ENST00000306378.6_Missense_Mutation_p.W1767C			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1893					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCATCACTTGGAGGTATGTAC	0.343000													43	233					2.48909e-17	3.57875e-17	0.870114	1	0
PARK2	5071	broad.mit.edu	37	6	161781149	161781149	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:161781149G>A	ENST00000366898.1	-	11	1358	c.1256C>T	c.(1255-1257)cCc>cTc	p.P419L	PARK2_ENST00000366894.1_Missense_Mutation_p.P228L|PARK2_ENST00000366896.1_Missense_Mutation_p.P270L|PARK2_ENST00000366897.1_Missense_Mutation_p.P391L|PARK2_ENST00000338468.3_Missense_Mutation_p.P228L	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	419					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		ATGGCAGCGGGGACAGGGCTT	0.527000													84	45					0	0	0.870114	0	0
RHBDD1	84236	broad.mit.edu	37	2	227731941	227731941	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:227731941G>T	ENST00000392062.2	+	5	997	c.473G>T	c.(472-474)tGc>tTc	p.C158F	RHBDD1_ENST00000341329.3_Missense_Mutation_p.C158F	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	158						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		AACCATTATTGCCCTGGAGGC	0.378000													35	87					2.19358e-23	3.56049e-23	0.812448	1	0
CDKL4	344387	broad.mit.edu	37	2	39406334	39406334	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:39406334G>T	ENST00000378803.1	-	8	920	c.921C>A	c.(919-921)cgC>cgA	p.R307R	CDKL4_ENST00000395035.3_Silent_p.R307R	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	307			R -> C (in dbSNP:rs56330730).			cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				GTACCTGTTGGCGTCTTCTGT	0.388000													18	89					1.10513e-12	1.41676e-12	0.624587	1	0
ZNF780B	163131	broad.mit.edu	37	19	40540554	40540554	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:40540554T>A	ENST00000434248.1	-	5	2277	c.2212A>T	c.(2212-2214)Aca>Tca	p.T738S	ZNF780B_ENST00000221355.6_Missense_Mutation_p.T590S	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	738					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GCAAGCTGTGTCAGAAGACCA	0.418000													18	13					0	0	0.557998	0	0
NPTXR	23467	broad.mit.edu	37	22	39218742	39218742	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr22:39218742G>T	ENST00000333039.2	-	5	1498	c.1375C>A	c.(1375-1377)Ctg>Atg	p.L459M		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	459	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					GCAATGCCCAGGACCTGGGCT	0.612000													54	38					5.47352e-35	9.99071e-35	0.870114	1	0
DMBT1	1755	broad.mit.edu	37	10	124361494	124361494	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:124361494C>A	ENST00000368909.3	+	29	3631	c.3525C>A	c.(3523-3525)gcC>gcA	p.A1175A	DMBT1_ENST00000344338.3_Silent_p.A1165A|DMBT1_ENST00000338354.3_Silent_p.A1175A|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Silent_p.A676A|DMBT1_ENST00000368956.2_Silent_p.A676A|DMBT1_ENST00000368955.3_Silent_p.A1165A	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1175	SRCR 9.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CAGGAAATGCCCGGTTTGGCC	0.602000													176	162					1.8242e-84	3.81954e-84	0.870114	1	0
TMEM52B	120939	broad.mit.edu	37	12	10339129	10339129	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:10339129C>A	ENST00000298530.3	+	3	766	c.188C>A	c.(187-189)cCc>cAc	p.P63H	TMEM52B_ENST00000536952.1_Missense_Mutation_p.P83H|TMEM52B_ENST00000381923.2_Missense_Mutation_p.P83H	NM_153022.2	NP_694567.1			transmembrane protein 52B																		GGCCCACCACCCTGTGAAGTG	0.557000													37	34					3.54909e-21	5.47988e-21	0.859065	1	0
CCNI	10983	broad.mit.edu	37	4	77977478	77977478	+	Splice_Site	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:77977478T>A	ENST00000237654.4	-	4	820		c.e4-2		CCNI_ENST00000537948.1_Splice_Site|CCNI_ENST00000504697.1_Splice_Site	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I						spermatogenesis					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						TGGATGAGCCTAAAATTTTGA	0.323000													12	49					0	0	0.457914	0	0
ZNF704	619279	broad.mit.edu	37	8	81599577	81599577	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:81599577G>A	ENST00000327835.3	-	4	673	c.442C>T	c.(442-444)Ccg>Tcg	p.P148S	ZNF704_ENST00000520336.1_5'UTR	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	148						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			GCCGAGAGCGGCGGCGACGGC	0.701000											OREG0018841	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	35					0	0	0.457914	0	0
DFNA5	1687	broad.mit.edu	37	7	24758726	24758726	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:24758726C>T	ENST00000545231.1	-	6	1174	c.24G>A	c.(22-24)gaG>gaA	p.E8E	DFNA5_ENST00000409775.3_Silent_p.E172E|DFNA5_ENST00000342947.3_Silent_p.E172E|DFNA5_ENST00000409970.1_Silent_p.E8E|DFNA5_ENST00000419307.1_Silent_p.E8E|DFNA5_ENST00000559637.1_5'UTR			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	172					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CCTGCATGTGCTCAGAGATCA	0.572000													68	203					0	0	0.870114	0	0
SLC4A1	6521	broad.mit.edu	37	17	42328937	42328937	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:42328937C>A	ENST00000262418.6	-	18	2486	c.2331G>T	c.(2329-2331)gaG>gaT	p.E777D		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	777	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ACAGGATGGGCTCCATGAGGA	0.647000													46	68					1.03875e-11	1.29448e-11	0.870114	1	0
TRIM51HP	440041	broad.mit.edu	37	11	55065443	55065443	+	RNA	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:55065443C>A	ENST00000526016.1	-	0	265					NR_038174.2																						CACAGAACATCTTCTTTGTCT	0.488000													20	34					1.33834e-09	1.58917e-09	0.557998	1	0
PDE11A	50940	broad.mit.edu	37	2	178936638	178936638	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:178936638A>T	ENST00000286063.5	-	1	844	c.527T>A	c.(526-528)cTg>cAg	p.L176Q	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	176					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TCTCGATTCCAGCAGCGCACT	0.557000									Primary Pigmented Nodular Adrenocortical Disease, Familial				27	66					0	0	0.788014	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26237041	26237041	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:26237041C>A	ENST00000354667.4	-	4	362	c.194G>T	c.(193-195)gGt>gTt	p.G65V	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.G53V	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	65	RRM 1.				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						AGTTACAAAACCAAATCCTCT	0.403000			T	ETV1	prostate								6	184					5.18039e-06	5.69669e-06	0.278610	1	0
FAM155B	27112	broad.mit.edu	37	X	68725732	68725732	+	Missense_Mutation	SNP	A	A	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:68725732A>C	ENST00000252338.4	+	1	649	c.607A>C	c.(607-609)Acg>Ccg	p.T203P		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	203						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						CGACACCTACACGGTCTGGGA	0.627000													32	76					0	0	0.819951	0	0
MLXIPL	51085	broad.mit.edu	37	7	73012007	73012007	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:73012007C>T	ENST00000313375.3	-	9	1155	c.1108G>A	c.(1108-1110)Gcc>Acc	p.A370T	MLXIPL_ENST00000434326.1_Missense_Mutation_p.A277T|MLXIPL_ENST00000395189.1_Missense_Mutation_p.A277T|MLXIPL_ENST00000429400.2_Missense_Mutation_p.A370T|MLXIPL_ENST00000354613.1_Missense_Mutation_p.A370T|MLXIPL_ENST00000414749.2_Missense_Mutation_p.A370T	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	370					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTCAGGAAGGCGCTGGAGTCC	0.642000													13	46					0	0	0.539581	0	0
PANX1	24145	broad.mit.edu	37	11	93911607	93911607	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:93911607G>T	ENST00000227638.3	+	3	779	c.394G>T	c.(394-396)Gct>Tct	p.A132S	PANX1_ENST00000436171.2_Missense_Mutation_p.A132S	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	132					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTCGCAGCTGCTCCTCATAT	0.473000													40	67					1.61004e-24	2.63949e-24	0.870114	1	0
IARS	3376	broad.mit.edu	37	9	95019071	95019071	+	Silent	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr9:95019071T>A	ENST00000375643.3	-	20	2294	c.2028A>T	c.(2026-2028)atA>atT	p.I676I	IARS_ENST00000443024.2_Silent_p.I676I|IARS_ENST00000447699.2_Silent_p.I566I|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	676					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGAGAAATTCTATTTCTTCCT	0.393000													20	33					0	0	0.639603	0	0
DGKI	9162	broad.mit.edu	37	7	137330268	137330268	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:137330268G>A	ENST00000424189.2	-	6	983	c.754C>T	c.(754-756)Cac>Tac	p.H252Y	DGKI_ENST00000446122.1_Missense_Mutation_p.H252Y|DGKI_ENST00000453654.1_5'UTR|DGKI_ENST00000288490.5_Missense_Mutation_p.H252Y			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	252					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TGCACCCAGTGATGACGTACA	0.483000													15	60					0	0	0.500413	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47611012	47611012	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr20:47611012G>T	ENST00000371917.4	+	22	2998	c.2998G>T	c.(2998-3000)Gag>Tag	p.E1000*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1000					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CAGCCAGCTGGAGCTCGCTCA	0.493000													17	92					1.87028e-06	2.07527e-06	0.608945	1	0
CACNA1D	776	broad.mit.edu	37	3	53694292	53694292	+	Silent	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:53694292A>T	ENST00000288139.3	+	5	874	c.756A>T	c.(754-756)tcA>tcT	p.S252S	CACNA1D_ENST00000422281.2_Silent_p.S252S|CACNA1D_ENST00000350061.5_Silent_p.S252S	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	252					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GACTAGTGTCAGGAGTGCCCA	0.502000													12	13					0	0	0.457914	0	0
MYLK	4638	broad.mit.edu	37	3	123512524	123512524	+	Splice_Site	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:123512524C>A	ENST00000360772.3	-	5	543	c.165_splice	c.e5+1	p.R55_splice	MYLK_ENST00000359169.1_Splice_Site_p.R55_splice|MYLK_ENST00000475616.1_Splice_Site_p.R55_splice|MYLK_ENST00000360304.3_Splice_Site_p.R55_splice|MYLK_ENST00000346322.5_Splice_Site_p.R55_splice			Q15746	MYLK_HUMAN	myosin light chain kinase	55	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CACTTCTTACCCGCCCTTCGA	0.592000													11	28					1.49906e-05	1.63928e-05	0.457914	1	0
ETNPPL	64850	broad.mit.edu	37	4	109681462	109681462	+	Splice_Site	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:109681462C>A	ENST00000296486.3	-	2	211	c.56_splice	c.e2-1	p.G19_splice	ETNPPL_ENST00000512646.1_Intron|ETNPPL_ENST00000411864.2_Splice_Site_p.G19_splice|ETNPPL_ENST00000510706.1_5'UTR	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		TGCATGAGGGCCTAGAAATAA	0.423000													27	30					3.73148e-12	4.72814e-12	0.717897	1	0
NUP210P1	255330	broad.mit.edu	37	3	126385992	126385992	+	RNA	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:126385992G>T	ENST00000357061.3	+	0	444					NR_034158.1																						GAAGGAGGCAGCACAGCTTCT	0.517000													4	2					0.00024832	0.000263053	0.150653	1	0
ACSM5	54988	broad.mit.edu	37	16	20448486	20448486	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:20448486T>C	ENST00000331849.4	+	11	1568	c.1421T>C	c.(1420-1422)gTg>gCg	p.V474A		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	474					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AACGACGATGTGATCAATTCT	0.473000													51	101					0	0	0.870114	0	0
FBF1	85302	broad.mit.edu	37	17	73919584	73919584	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:73919584C>A	ENST00000586717.1	-	13	1338	c.1065G>T	c.(1063-1065)ctG>ctT	p.L355L	FBF1_ENST00000389570.4_Silent_p.L355L|FBF1_ENST00000319129.5_Silent_p.L354L			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	354										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						AGGCAGGGAACAGGTCCAAGT	0.637000													13	10					3.27435e-08	3.77396e-08	0.457914	1	0
CCSER1	401145	broad.mit.edu	37	4	91549195	91549195	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:91549195A>T	ENST00000509176.1	+	6	2032	c.1744A>T	c.(1744-1746)Aca>Tca	p.T582S	CCSER1_ENST00000432775.2_Missense_Mutation_p.T582S|CCSER1_ENST00000333691.8_Missense_Mutation_p.T582S	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		CCTGAAATTAACAAAGGACGT	0.418000													15	56					0	0	0.520397	0	0
MLH3	27030	broad.mit.edu	37	14	75515020	75515020	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:75515020C>A	ENST00000355774.2	-	2	1554	c.1339G>T	c.(1339-1341)Ggt>Tgt	p.G447C	MLH3_ENST00000556257.1_Missense_Mutation_p.G447C|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.G447C|MLH3_ENST00000556740.1_Missense_Mutation_p.G447C	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	447					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGGCCTGGACCACCTGATTCA	0.368000								Mismatch excision repair (MMR)					23	80					3.65163e-15	5.02227e-15	0.706142	1	0
FRMD4A	55691	broad.mit.edu	37	10	13698955	13698955	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:13698955C>T	ENST00000357447.2	-	22	3002	c.2634G>A	c.(2632-2634)ctG>ctA	p.L878L	FRMD4A_ENST00000358621.4_Silent_p.L863L|FRMD4A_ENST00000378503.1_Silent_p.L878L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	878						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TCTCCTTGAACAGGCCGCCCG	0.716000													10	12					0	0	0.335167	0	0
CD300LG	146894	broad.mit.edu	37	17	41939276	41939276	+	Silent	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:41939276G>C	ENST00000317310.4	+	7	1037	c.996G>C	c.(994-996)gcG>gcC	p.A332A		NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	332						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TTGTCTCAGCGTAGGGCAGGA	0.607000													5	15					0	0	0.248553	0	0
COL13A1	1305	broad.mit.edu	37	10	71690222	71690222	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:71690222C>T	ENST00000356340.3	+	28	2100	c.1564C>T	c.(1564-1566)Cct>Tct	p.P522S	COL13A1_ENST00000398978.3_Missense_Mutation_p.P522S|COL13A1_ENST00000398974.3_Missense_Mutation_p.P510S|COL13A1_ENST00000357811.3_Missense_Mutation_p.P500S|COL13A1_ENST00000398969.3_Missense_Mutation_p.P465S|COL13A1_ENST00000517713.1_Missense_Mutation_p.P500S|COL13A1_ENST00000398968.3_Missense_Mutation_p.P503S|COL13A1_ENST00000398966.3_Missense_Mutation_p.P500S|COL13A1_ENST00000398971.3_Missense_Mutation_p.P522S|COL13A1_ENST00000398972.3_Missense_Mutation_p.P522S|COL13A1_ENST00000354547.3_Missense_Mutation_p.P500S|COL13A1_ENST00000398964.3_Missense_Mutation_p.P493S|COL13A1_ENST00000522165.1_Missense_Mutation_p.P503S|COL13A1_ENST00000520267.1_Missense_Mutation_p.P465S|COL13A1_ENST00000520133.1_Missense_Mutation_p.P471S|COL13A1_ENST00000398973.3_Missense_Mutation_p.P522S			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	522	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AAAGGATGGACCTCCAGGAGT	0.587000													12	36					0	0	0.479597	0	0
PCSK2	5126	broad.mit.edu	37	20	17417358	17417358	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr20:17417358C>A	ENST00000262545.2	+	8	1030	c.715C>A	c.(715-717)Cgg>Agg	p.R239R	PCSK2_ENST00000377899.1_Silent_p.R220R|PCSK2_ENST00000536609.1_Silent_p.R204R	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	239	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CACAGGCATCCGGATGCTGGA	0.582000													27	97					4.34311e-12	5.48191e-12	0.779181	1	0
PTN	5764	broad.mit.edu	37	7	136938289	136938289	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:136938289G>C	ENST00000348225.2	-	3	638	c.211C>G	c.(211-213)Cgg>Ggg	p.R71G	PTN_ENST00000393083.2_Missense_Mutation_p.R71G	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	71					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						GCTCCAGTCCGAGTGCCCTCC	0.522000													54	65					0	0	0.870114	0	0
ATF7IP	55729	broad.mit.edu	37	12	14613956	14613956	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:14613956G>T	ENST00000544627.1	+	9	3030	c.2710G>T	c.(2710-2712)Gga>Tga	p.G904*	ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.G895*|ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.G895*|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.G896*|ATF7IP_ENST00000540793.1_Nonsense_Mutation_p.G896*			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	896					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GGGCCCATCAGGACTCTATAG	0.458000													23	11					1.64293e-13	2.17434e-13	0.654019	1	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959472	45959472	+	Missense_Mutation	SNP	G	G	T	rs144781408	by1000genomes	TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr21:45959472G>T	ENST00000400375.1	-	1	606	c.562C>A	c.(562-564)Cgt>Agt	p.R188S	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	188	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GGCTTGCAACGGACGGGCACG	0.632000													103	299					1.75558e-51	3.50403e-51	0.870114	1	0
TRIM33	51592	broad.mit.edu	37	1	114940607	114940607	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:114940607C>T	ENST00000358465.2	-	19	3209	c.3126G>A	c.(3124-3126)atG>atA	p.M1042I	TRIM33_ENST00000450349.2_Missense_Mutation_p.M674I|TRIM33_ENST00000369543.2_Intron	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	1042	Bromo.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAACAACTTTCATCATCTAAA	0.353000			T	RET	papillary thyroid								84	115					0	0	0.870114	0	0
CYP4F11	57834	broad.mit.edu	37	19	16033242	16033242	+	Splice_Site	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:16033242T>C	ENST00000326742.7	-	7	920		c.e7-2		CYP4F11_ENST00000402119.3_Splice_Site|CYP4F11_ENST00000248041.7_Splice_Site			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11						inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						ATCTTCATCCTGGAGAGAAGG	0.488000													33	85					0	0	0.804634	0	0
UGT2A1	10941	broad.mit.edu	37	4	70513265	70513265	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:70513265C>A	ENST00000503640.1	-	1	153	c.98G>T	c.(97-99)tGg>tTg	p.W33L	UGT2A1_ENST00000514019.1_Missense_Mutation_p.W33L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.W33L|UGT2A1_ENST00000286604.4_Missense_Mutation_p.W33L	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	33					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AACATTTAGCCAATGACTACC	0.398000													8	30					0.000274275	0.000289611	0.307466	1	0
LRRN3	54674	broad.mit.edu	37	7	110762955	110762955	+	Missense_Mutation	SNP	C	C	A	rs142475039		TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:110762955C>A	ENST00000451085.1	+	4	1173	c.127C>A	c.(127-129)Ccc>Acc	p.P43T	LRRN3_ENST00000308478.5_Missense_Mutation_p.P43T|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.P43T|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	43	LRRNT.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TTGGTTTACACCCAGATCCAT	0.413000													41	174					7.05121e-23	1.12957e-22	0.853193	1	0
SYT14	255928	broad.mit.edu	37	1	210273386	210273386	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:210273386G>T	ENST00000537238.1	+	7	1021	c.630G>T	c.(628-630)caG>caT	p.Q210H	SYT14_ENST00000367015.1_Missense_Mutation_p.Q210H|SYT14_ENST00000367019.1_Missense_Mutation_p.Q248H|SYT14_ENST00000472886.1_Missense_Mutation_p.Q248H|SYT14_ENST00000422431.1_Missense_Mutation_p.Q293H|SYT14_ENST00000399639.2_Missense_Mutation_p.Q248H|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000534859.1_Missense_Mutation_p.Q248H	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	248						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		CATCTTCGCAGCTTCCTAAAC	0.353000													13	54					1.62849e-17	2.3552e-17	0.500413	1	0
KLK5	25818	broad.mit.edu	37	19	51452265	51452265	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:51452265G>C	ENST00000336334.3	-	4	794	c.442C>G	c.(442-444)Cct>Gct	p.P148A	KLK5_ENST00000391809.2_Missense_Mutation_p.P148A|KLK5_ENST00000593428.1_Missense_Mutation_p.P148A	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	148	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GAGTGGCCAGGGTGGGAGTAG	0.532000													27	49					0	0	0.870114	0	0
TRIM68	55128	broad.mit.edu	37	11	4621699	4621699	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:4621699C>A	ENST00000300747.5	-	7	1554	c.1265G>T	c.(1264-1266)cGg>cTg	p.R422L		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	422	B30.2/SPRY.			R -> P (in Ref. 7; AAF91075).	protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GATTCCCACCCGGCGAGGAGG	0.542000													29	66					1.06647e-15	1.4855e-15	0.788014	1	0
ZNF646	9726	broad.mit.edu	37	16	31090634	31090634	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:31090634G>T	ENST00000394979.2	+	1	3412	c.2989G>T	c.(2989-2991)Ggt>Tgt	p.G997C	ZNF646_ENST00000300850.5_Missense_Mutation_p.G997C			O15015	ZN646_HUMAN	zinc finger protein 646	997					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GGGAGTGGCAGGTGATGCCAT	0.572000													59	85					7.1157e-29	1.23456e-28	0.870114	1	0
DUSP27	92235	broad.mit.edu	37	1	167096313	167096313	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:167096313G>A	ENST00000361200.2	+	6	2111	c.1945G>A	c.(1945-1947)Gac>Aac	p.D649N	DUSP27_ENST00000271385.5_Missense_Mutation_p.D649N|DUSP27_ENST00000443333.1_Missense_Mutation_p.D649N|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	649					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CTGGGAGGCGGACAGCTCCAC	0.632000													3	41					0	0	0.184627	0	0
AKR1B15	441282	broad.mit.edu	37	7	134260657	134260657	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:134260657C>A	ENST00000457545.2	+	8	981	c.721C>A	c.(721-723)Ctg>Atg	p.L241M	AKR1B15_ENST00000423958.1_Missense_Mutation_p.L213M	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	241							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CTACAGCCCCCTGGGCTCTCC	0.483000													15	93					6.94344e-10	8.2648e-10	0.539581	1	0
FAH	2184	broad.mit.edu	37	15	80460487	80460487	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr15:80460487T>G	ENST00000539156.1	+	5	2577	c.339T>G	c.(337-339)gaT>gaG	p.D113E	FAH_ENST00000407106.1_Missense_Mutation_p.D183E|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000261755.5_Missense_Mutation_p.D183E|FAH_ENST00000561421.1_Missense_Mutation_p.D183E			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	183					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGAAACCTGATGACTGTGAGT	0.562000									Tyrosinemia, type 1				11	14					0	0	0.479597	0	0
ALKBH1	8846	broad.mit.edu	37	14	78142091	78142091	+	Silent	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:78142091T>A	ENST00000216489.3	-	5	663	c.648A>T	c.(646-648)gcA>gcT	p.A216A		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	216	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TCAGGATCCCTGCTTCAGCTC	0.498000													32	59					0	0	0.769981	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	117					0	0	0.184627	0	0
OR5D14	219436	broad.mit.edu	37	11	55563816	55563816	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:55563816G>C	ENST00000335605.1	+	1	785	c.785G>C	c.(784-786)tGt>tCt	p.C262S		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTCCTTTACTGTGTACCCAAC	0.493000													24	42					0	0	0.654019	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530555	140530555	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:140530555C>A	ENST00000231136.1	+	1	717	c.717C>A	c.(715-717)ccC>ccA	p.P239P	PCDHB6_ENST00000543635.1_Silent_p.P103P	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		239	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAACGTCCCCGAGTTTGCTC	0.552000													11	18					3.86212e-05	4.14945e-05	0.361761	1	0
NAGPA	51172	broad.mit.edu	37	16	5078945	5078945	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:5078945C>G	ENST00000312251.3	-	5	875	c.856G>C	c.(856-858)Gat>Cat	p.D286H	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Missense_Mutation_p.D286H	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	286					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CCACCCCCATCCAGGTTGATG	0.607000													40	69					0	0	0.834066	0	0
IGFN1	91156	broad.mit.edu	37	1	201196047	201196047	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:201196047C>A	ENST00000335211.4	+	23	10954	c.10824C>A	c.(10822-10824)ccC>ccA	p.P3608P	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACCGGGAGCCCGACCTGAGCC	0.672000													46	233					9.10829e-22	1.43109e-21	0.870114	1	0
DCAF8	50717	broad.mit.edu	37	1	160209657	160209657	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:160209657G>A	ENST00000368073.3	-	4	987	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	DCAF8_ENST00000326837.2_Silent_p.L185L|DCAF8_ENST00000556710.1_Silent_p.L339L|DCAF8_ENST00000368074.1_Silent_p.L185L|DCAF8_ENST00000461888.1_5'UTR			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	185						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						CCATGCTGCAGGCGGAAACGC	0.612000													41	51					0	0	0.859065	0	0
PPFIA2	8499	broad.mit.edu	37	12	81657085	81657085	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:81657085C>A	ENST00000550584.2	-	30	3935	c.3640G>T	c.(3640-3642)Ggg>Tgg	p.G1214W	PPFIA2_ENST00000552948.1_Missense_Mutation_p.G1193W|PPFIA2_ENST00000333447.7_Missense_Mutation_p.G1202W|PPFIA2_ENST00000443686.3_Missense_Mutation_p.G1109W|PPFIA2_ENST00000541017.1_Missense_Mutation_p.G400W|PPFIA2_ENST00000549396.1_Missense_Mutation_p.G1214W|PPFIA2_ENST00000550359.2_Missense_Mutation_p.G1061W|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.G1113W|PPFIA2_ENST00000541570.2_Missense_Mutation_p.G750W|PPFIA2_ENST00000549325.1_Missense_Mutation_p.G1199W|PPFIA2_ENST00000548586.1_Missense_Mutation_p.G1208W	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1113										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTGAGGACCCAGGCATCATG	0.453000													11	24					0.000673444	0.000705034	0.361761	1	0
C10orf82	143379	broad.mit.edu	37	10	118424413	118424413	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:118424413C>A	ENST00000369210.3	-	4	374	c.320G>T	c.(319-321)gGc>gTc	p.G107V	C10orf82_ENST00000588184.1_Missense_Mutation_p.G107V	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	107										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		GCCTGCCCAGCCAGGGATCGG	0.488000													50	78					1.57914e-17	2.29058e-17	0.870114	1	0
ST8SIA1	6489	broad.mit.edu	37	12	22402023	22402023	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:22402023G>A	ENST00000396037.4	-	4	982	c.501C>T	c.(499-501)ctC>ctT	p.L167L	ST8SIA1_ENST00000539510.1_Silent_p.L24L	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	167					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						ACAAAGGAGGGAGATTGCATC	0.328000													30	33					0	0	0.779181	0	0
SALL1	6299	broad.mit.edu	37	16	51173942	51173942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:51173942C>A	ENST00000440970.1	-	2	2331	c.1900G>T	c.(1900-1902)Gag>Tag	p.E634*	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Nonsense_Mutation_p.E731*	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	731					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAGGGCCTCTCCCCAGTGTGT	0.537000													12	19					6.53275e-17	9.31083e-17	0.457914	1	0
ITIH5	80760	broad.mit.edu	37	10	7618975	7618975	+	Splice_Site	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:7618975C>A	ENST00000256861.6	-	10	1497	c.1418_splice	c.e10-1	p.G473_splice	ITIH5_ENST00000397146.2_Splice_Site_p.G473_splice|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Splice_Site_p.G259_splice|ITIH5_ENST00000397145.2_Splice_Site_p.G473_splice|ITIH5_ENST00000446830.2_Splice_Site_p.G255_splice	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	473	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CATCGTAGAACCTGCAGTGGA	0.577000													10	48					2.21704e-12	2.82744e-12	0.639603	1	0
RABGAP1L	9910	broad.mit.edu	37	1	174190137	174190137	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:174190137G>T	ENST00000251507.4	+	3	340	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Nonsense_Mutation_p.E19*	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	56					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TGAACAATTGGAAAAAGCCAT	0.363000													21	141					9.95505e-16	1.38862e-15	0.624587	1	0
STAB2	55576	broad.mit.edu	37	12	104081982	104081982	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:104081982C>A	ENST00000388887.2	+	28	3238	c.3034C>A	c.(3034-3036)Cga>Aga	p.R1012R		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1012	FAS1 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TATATTTAACCGATGGATAAA	0.378000													37	128					8.78508e-14	1.17055e-13	0.870114	1	0
CHL1	10752	broad.mit.edu	37	3	424284	424284	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:424284C>A	ENST00000256509.2	+	18	2748	c.2106C>A	c.(2104-2106)gtC>gtA	p.V702V	CHL1_ENST00000397491.2_Silent_p.V686V|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	686	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGTTCAGGGTCATAGCCGTGA	0.493000													32	50					4.3181e-19	6.45415e-19	0.769981	1	0
LY6D	8581	broad.mit.edu	37	8	143867040	143867040	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:143867040G>T	ENST00000301263.4	-	2	191	c.116C>A	c.(115-117)cCg>cAg	p.P39Q	RP11-706C16.8_ENST00000510610.2_RNA|LY6D_ENST00000518434.1_5'UTR	NM_003695.2	NP_003686.1	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D	39	UPAR/Ly6.				cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding			large_intestine(1)|lung(3)|prostate(1)	5	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGAGCTGGCCGGGCAGACCAC	0.652000													53	85					1.98135e-44	3.86049e-44	0.870114	1	0
ANKRD24	170961	broad.mit.edu	37	19	4217038	4217038	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:4217038C>T	ENST00000600132.1	+	18	2157	c.1881C>T	c.(1879-1881)gcC>gcT	p.A627A	ANKRD24_ENST00000318934.4_Silent_p.A627A|ANKRD24_ENST00000262970.5_Silent_p.A717A	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	627										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GAGCTCAGGCCACAGACACAG	0.552000													17	6					0	0	0.639603	0	0
DLG4	1742	broad.mit.edu	37	17	7096430	7096430	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:7096430G>T	ENST00000399510.2	-	19	2681	c.1829C>A	c.(1828-1830)aCa>aAa	p.T610K	DLG4_ENST00000302955.6_Missense_Mutation_p.T564K|DLG4_ENST00000399506.2_Missense_Mutation_p.T567K	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	567	Guanylate kinase-like.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CTTGGGCCGTGTCGTATCTGC	0.522000													81	172					1.48543e-65	3.06447e-65	0.870114	1	0
FAT2	2196	broad.mit.edu	37	5	150948240	150948240	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:150948240C>A	ENST00000261800.5	-	1	265	c.253G>T	c.(253-255)Gag>Tag	p.E85*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	85	Cadherin 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATACTCCTCAGTTTTAAAT	0.507000													65	217					8.2577e-42	1.5869e-41	0.870114	1	0
DUSP27	92235	broad.mit.edu	37	1	167097284	167097284	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:167097284G>T	ENST00000361200.2	+	6	3082	c.2916G>T	c.(2914-2916)gaG>gaT	p.E972D	DUSP27_ENST00000271385.5_Missense_Mutation_p.E972D|DUSP27_ENST00000443333.1_Missense_Mutation_p.E972D|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	972	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGGAGACAGAGTCTAAATCCT	0.507000													13	74					0.000219431	0.000232953	0.457914	1	0
AWAT2	158835	broad.mit.edu	37	X	69262038	69262038	+	Splice_Site	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:69262038G>C	ENST00000276101.3	-	6	851	c.847_splice	c.e6+1	p.I282_splice		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	282						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						CCCACTCACCGATGGTGGTTA	0.567000													6	35					0	0	0.307466	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253373	32253373	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr21:32253373G>T	ENST00000332378.4	-	1	501	c.471C>A	c.(469-471)tcC>tcA	p.S157S		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	157						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						TTCGGCAGCTGGACACGCAGG	0.582000													38	140					2.05212e-20	3.13403e-20	0.812448	1	0
INSRR	3645	broad.mit.edu	37	1	156812204	156812204	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:156812204G>A	ENST00000368195.3	-	18	3619	c.3223C>T	c.(3223-3225)Cgg>Tgg	p.R1075W	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1075	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCTCAGGCCGCAAAGATCGA	0.602000													5	288					0	0	0.248553	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73316374	73316374	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:73316374C>A	ENST00000258098.6	-	2	741	c.501G>T	c.(499-501)caG>caT	p.Q167H	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	167					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TGCGCGTGAACTGGATGGTGA	0.542000													105	418					1.75003e-54	3.52881e-54	0.870114	1	0
C7orf57	136288	broad.mit.edu	37	7	48089507	48089507	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:48089507C>G	ENST00000348904.3	+	6	750	c.538C>G	c.(538-540)Ctg>Gtg	p.L180V	C7orf57_ENST00000435376.1_Missense_Mutation_p.L58V|C7orf57_ENST00000430738.1_Missense_Mutation_p.L225V|C7orf57_ENST00000420324.1_Missense_Mutation_p.L225V|C7orf57_ENST00000539619.1_Missense_Mutation_p.L180V	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	180										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CTCAAAGTATCTGAGCAAAGC	0.502000													12	73					0	0	0.557998	0	0
LAIR1	3903	broad.mit.edu	37	19	54867009	54867009	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:54867009C>A	ENST00000391743.3	-	9	958	c.678G>T	c.(676-678)ggG>ggT	p.G226G	LAIR1_ENST00000391742.2_Silent_p.G244G|LAIR1_ENST00000313038.6_Silent_p.G237G|LAIR1_ENST00000474878.1_Silent_p.G226G|LAIR1_ENST00000434277.2_Silent_p.G243G|LAIR1_ENST00000348231.4_Silent_p.G227G			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	244						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CCTGGGAACTCCCTGCAGCCA	0.667000													16	41					2.94398e-08	3.40919e-08	0.557998	1	0
NUPL2	11097	broad.mit.edu	37	7	23224757	23224757	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:23224757T>C	ENST00000258742.5	+	2	449	c.190T>C	c.(190-192)Tcc>Ccc	p.S64P	NUPL2_ENST00000410002.3_Missense_Mutation_p.S64P|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000487595.1_3'UTR	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	64					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCAGTTTCTCCAAATCCAC	0.383000													24	87					0	0	0.779181	0	0
NLRP3	114548	broad.mit.edu	37	1	247587690	247587690	+	Silent	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:247587690A>T	ENST00000366497.2	+	4	1725	c.945A>T	c.(943-945)atA>atT	p.I315I	NLRP3_ENST00000336119.3_Silent_p.I315I|NLRP3_ENST00000366496.2_Silent_p.I315I|NLRP3_ENST00000348069.2_Silent_p.I315I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.I315I|NLRP3_ENST00000391827.2_Silent_p.I315I	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	315	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACGAGCACATAGGACCGCTCT	0.562000													62	86					0	0	0.870114	0	0
KIAA0556	23247	broad.mit.edu	37	16	27640035	27640035	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:27640035T>A	ENST00000261588.4	+	4	213	c.194T>A	c.(193-195)tTg>tAg	p.L65*		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	65										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CTGGAGCACTTGGAGCAAGGT	0.483000													36	89					0	0	0.870114	0	0
EPB41L2	2037	broad.mit.edu	37	6	131277303	131277303	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:131277303T>C	ENST00000337057.3	-	2	504	c.323A>G	c.(322-324)gAa>gGa	p.E108G	EPB41L2_ENST00000529208.1_Missense_Mutation_p.E108G|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E108G|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E108G|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E108G|EPB41L2_ENST00000525193.1_Missense_Mutation_p.E108G|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000528282.1_Missense_Mutation_p.E108G|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E108G|EPB41L2_ENST00000392427.3_Missense_Mutation_p.E108G|EPB41L2_ENST00000525271.1_Missense_Mutation_p.E108G|EPB41L2_ENST00000445890.2_Missense_Mutation_p.E108G	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	108					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GACCTGTTCTTCAACAACAGC	0.428000													28	59					0	0	0.729181	0	0
RASL12	51285	broad.mit.edu	37	15	65347468	65347468	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr15:65347468G>C	ENST00000220062.4	-	5	846	c.570C>G	c.(568-570)agC>agG	p.S190R	RASL12_ENST00000434605.2_Missense_Mutation_p.S179R|RASL12_ENST00000421977.3_Missense_Mutation_p.S171R	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	190					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						GGGTCAGGGGGCTCTTCTCCA	0.667000													7	11					0	0	0.307466	0	0
TMEM225	338661	broad.mit.edu	37	11	123756111	123756111	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:123756111T>C	ENST00000375026.2	-	1	238	c.22A>G	c.(22-24)Agt>Ggt	p.S8G		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	8						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						CCCTGGATACTTCTATTTGAA	0.388000													39	57					0	0	0.870114	0	0
MUC17	140453	broad.mit.edu	37	7	100683157	100683157	+	Silent	SNP	G	G	T	rs140072363	byFrequency	TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:100683157G>T	ENST00000306151.4	+	3	8524	c.8460G>T	c.(8458-8460)acG>acT	p.T2820T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2820	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T2820T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACCACACGCCAGTGGCCA	0.493000													123	524					3.07615e-52	6.16486e-52	0.870114	1	0
MRGPRX4	117196	broad.mit.edu	37	11	18195204	18195204	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:18195204G>A	ENST00000314254.3	+	1	821	c.401G>A	c.(400-402)cGc>cAc	p.R134H	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	134						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CGCTGCCGCCGCCCCACACAC	0.587000													41	106					0	0	0.870114	0	0
MYLK4	340156	broad.mit.edu	37	6	2689086	2689086	+	Splice_Site	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:2689086C>G	ENST00000274643.7	-	4	682	c.341_splice	c.e4+1	p.G114_splice	MYLK4_ENST00000268446.5_Splice_Site_p.G114_splice	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	114	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				CTTACTCACCCTCCTAGGATT	0.463000													73	408					0	0	0.870114	0	0
RASD2	23551	broad.mit.edu	37	22	35947590	35947590	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr22:35947590G>T	ENST00000216127.4	+	3	954	c.312G>T	c.(310-312)gaG>gaT	p.E104D		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	104					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						ATAACCGGGAGTCCTTCGATG	0.592000													186	75					2.81511e-108	5.94503e-108	0.870114	1	0
OBSCN	84033	broad.mit.edu	37	1	228444428	228444428	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:228444428C>A	ENST00000570156.2	+	16	4736	c.4662C>A	c.(4660-4662)ctC>ctA	p.L1554L	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.L1462L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.L26L|OBSCN_ENST00000284548.11_Silent_p.L1462L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	531	Ig-like 16.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCACCACACTCAGCTGCGAGG	0.637000													13	80					1.45105e-14	1.96542e-14	0.539581	1	0
CXorf22	170063	broad.mit.edu	37	X	35989775	35989775	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:35989775C>T	ENST00000297866.5	+	12	2109	c.2043C>T	c.(2041-2043)ctC>ctT	p.L681L		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	681										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						CACCCTCACTCTCAGAAGCGG	0.408000													13	22					0	0	0.457914	0	0
AGMO	392636	broad.mit.edu	37	7	15430514	15430514	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:15430514G>T	ENST00000342526.3	-	7	862	c.693C>A	c.(691-693)tgC>tgA	p.C231*		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	231					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TTTTGTCTATGCAATAACGAT	0.239000													5	27					0.0381472	0.0386192	0.278610	1	0
MYL2	4633	broad.mit.edu	37	12	111352022	111352022	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:111352022A>G	ENST00000228841.8	-	4	289	c.242T>C	c.(241-243)gTg>gCg	p.V81A	MYL2_ENST00000548438.1_Missense_Mutation_p.V67A	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	81					cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						TGTGAGGAACACAGTAAAGTT	0.468000													16	81					0	0	0.520397	0	0
PLD5	200150	broad.mit.edu	37	1	242287871	242287871	+	Silent	SNP	T	T	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:242287871T>G	ENST00000442594.2	-	7	1065	c.556A>C	c.(556-558)Aga>Cga	p.R186R	PLD5_ENST00000536534.1_Silent_p.R278R|PLD5_ENST00000427495.1_Silent_p.R216R	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	278						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TGAGGCACTCTGCTTTTGAAT	0.373000													26	56					0	0	0.717897	0	0
AFF3	3899	broad.mit.edu	37	2	100623841	100623841	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:100623841T>A	ENST00000317233.4	-	5	491	c.256A>T	c.(256-258)Aga>Tga	p.R86*	AFF3_ENST00000409579.1_Nonsense_Mutation_p.R111*|AFF3_ENST00000409236.1_Nonsense_Mutation_p.R86*|AFF3_ENST00000356421.2_Nonsense_Mutation_p.R111*	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	86					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGATTGGATCTATCAGTTAAA	0.423000													23	60					0	0	0.639603	0	0
FBN2	2201	broad.mit.edu	37	5	127681116	127681116	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:127681116C>A	ENST00000508053.1	-	30	4124	c.3150G>T	c.(3148-3150)acG>acT	p.T1050T	FBN2_ENST00000262464.4_Silent_p.T1050T|FBN2_ENST00000508989.1_Silent_p.T1017T			P35556	FBN2_HUMAN	fibrillin 2	1050	TB 5.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGGGGCACAGCGTCTCGTATT	0.617000													44	107					9.52127e-25	1.56877e-24	0.870114	1	0
PTGDR2	11251	broad.mit.edu	37	11	60620764	60620764	+	Silent	SNP	G	G	T	rs144164916		TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:60620764G>T	ENST00000332539.4	-	2	543	c.432C>A	c.(430-432)acC>acA	p.T144T		NM_004778.2	NP_004769.2	Q9Y5Y4	GPR44_HUMAN	prostaglandin D2 receptor 2	144					immune response	integral to plasma membrane	N-formyl peptide receptor activity										CCGCGGCCACGGTGCGGTGGT	0.652000													17	16					1.67942e-08	1.9517e-08	0.539581	1	0
STAU2	27067	broad.mit.edu	37	8	74507481	74507481	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:74507481C>A	ENST00000355780.5	-	10	1203	c.985G>T	c.(985-987)Gcc>Tcc	p.A329S	STAU2_ENST00000524300.1_Missense_Mutation_p.A361S|STAU2_ENST00000521210.1_Missense_Mutation_p.A257S|STAU2_ENST00000521451.1_Missense_Mutation_p.A141S|STAU2_ENST00000517542.1_Missense_Mutation_p.A323S|STAU2_ENST00000519961.1_Missense_Mutation_p.A361S|STAU2_ENST00000521727.1_Missense_Mutation_p.A341S|STAU2_ENST00000522509.1_Missense_Mutation_p.A329S|STAU2_ENST00000523558.1_Missense_Mutation_p.A189S|STAU2_ENST00000522695.1_Missense_Mutation_p.A329S	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	361	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTTTTTTTGGCTATCTTTTTA	0.318000													21	65					2.79863e-10	3.36796e-10	0.681144	1	0
KIRREL2	84063	broad.mit.edu	37	19	36349620	36349620	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:36349620C>A	ENST00000360202.5	+	4	574	c.376C>A	c.(376-378)Ccc>Acc	p.P126T	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000586102.2_Missense_Mutation_p.P126T|KIRREL2_ENST00000262625.7_Missense_Mutation_p.P126T|KIRREL2_ENST00000347900.6_Missense_Mutation_p.P76T|KIRREL2_ENST00000592409.1_Missense_Mutation_p.P126T	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	126	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCAGAAGCCCCCCAGGTGCT	0.622000													58	26					6.30617e-38	1.17731e-37	0.870114	1	0
TRIML1	339976	broad.mit.edu	37	4	189060860	189060860	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:189060860C>G	ENST00000332517.3	+	1	288	c.148C>G	c.(148-150)Cct>Gct	p.P50A		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	50					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ACATAACACACCTTTATCTTG	0.567000													48	210					0	0	0.870114	0	0
OR4C15	81309	broad.mit.edu	37	11	55322559	55322559	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:55322559C>A	ENST00000314644.2	+	1	777	c.777C>A	c.(775-777)atC>atA	p.I259I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GTGGGTTTATCTGCATCATAA	0.468000										HNSCC(20;0.049)			25	44					2.39556e-15	3.30864e-15	0.639603	1	0
ABCC3	8714	broad.mit.edu	37	17	48750848	48750848	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:48750848C>T	ENST00000285238.8	+	19	2508	c.2428C>T	c.(2428-2430)Cac>Tac	p.H810Y		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	810	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GCTGGTGACGCACGGCATTAG	0.627000													29	164					0	0	0.779181	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171773210	171773210	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:171773210T>C	ENST00000311601.5	-	12	1288	c.1118A>G	c.(1117-1119)tAt>tGt	p.Y373C	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.Y373C	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	373	SH3 3.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GATGGTGTAATACTCTTCCTC	0.582000													75	130					0	0	0.870114	0	0
EFHB	151651	broad.mit.edu	37	3	19975155	19975155	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:19975155C>A	ENST00000295824.9	-	1	517	c.356G>T	c.(355-357)gGa>gTa	p.G119V	EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	119					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ATGGGTATATCCTGCAAGAAG	0.507000													46	25					3.68337e-26	6.20424e-26	0.870114	1	0
BARHL2	343472	broad.mit.edu	37	1	91180207	91180207	+	Silent	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:91180207G>C	ENST00000370445.4	-	2	773	c.732C>G	c.(730-732)ctC>ctG	p.L244L		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	244						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CCAGTTGATTGAGCTGGTGGT	0.562000													110	161					0	0	0.870114	0	0
KLHL7	55975	broad.mit.edu	37	7	23213769	23213769	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:23213769G>T	ENST00000322231.7	+	12	2037	c.1547G>T	c.(1546-1548)gGt>gTt	p.G516V	KLHL7_ENST00000542558.1_Missense_Mutation_p.G313V|KLHL7_ENST00000409689.1_Missense_Mutation_p.G490V|KLHL7_ENST00000539124.1_Missense_Mutation_p.G462V|KLHL7_ENST00000339077.4_Missense_Mutation_p.G538V|KLHL7_ENST00000545443.1_Missense_Mutation_p.G516V|AC005082.1_ENST00000366347.4_Intron			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	538						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGTTTTCAGGGTGTTGGTCGA	0.423000													61	162					1.52378e-38	2.86657e-38	0.870114	1	0
TMEM52B	120939	broad.mit.edu	37	12	10339130	10339130	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:10339130C>A	ENST00000298530.3	+	3	767	c.189C>A	c.(187-189)ccC>ccA	p.P63P	TMEM52B_ENST00000536952.1_Silent_p.P83P|TMEM52B_ENST00000381923.2_Silent_p.P83P	NM_153022.2	NP_694567.1			transmembrane protein 52B																		GCCCACCACCCTGTGAAGTGA	0.552000													37	34					3.54909e-21	5.47988e-21	0.859065	1	0
APCDD1L	164284	broad.mit.edu	37	20	57036341	57036341	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr20:57036341G>T	ENST00000371149.3	-	4	1241	c.1011C>A	c.(1009-1011)acC>acA	p.T337T	APCDD1L_ENST00000491015.1_5'UTR|APCDD1L_ENST00000439429.1_Silent_p.T348T	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	337						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GCGTGCCCCTGGTGTAGCGGC	0.677000													39	25					2.59344e-38	4.86023e-38	0.870114	1	0
PRKAG3	53632	broad.mit.edu	37	2	219694895	219694895	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:219694895A>T	ENST00000439262.2	-	4	459	c.364T>A	c.(364-366)Tgt>Agt	p.C122S	PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000392098.3_Missense_Mutation_p.C147S|PRKAG3_ENST00000529249.1_Missense_Mutation_p.C147S	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	147					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTAGCTCACACTCCCAGGCC	0.642000													8	22					0	0	0.278610	0	0
NOL4	8715	broad.mit.edu	37	18	31673492	31673492	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:31673492C>G	ENST00000261592.5	-	5	1006	c.709G>C	c.(709-711)Gat>Cat	p.D237H	NOL4_ENST00000269185.4_Missense_Mutation_p.D123H|NOL4_ENST00000538587.1_Missense_Mutation_p.D163H|NOL4_ENST00000589544.1_Missense_Mutation_p.D237H|NOL4_ENST00000535475.1_Missense_Mutation_p.D82H	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	237						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GAGCTAAGATCAGAGTTCACA	0.363000													23	78					0	0	0.667858	0	0
PALM	5064	broad.mit.edu	37	19	746537	746537	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:746537C>A	ENST00000264560.7	+	8	949	c.755C>A	c.(754-756)cCc>cAc	p.P252H	PALM_ENST00000338448.5_Missense_Mutation_p.P296H|PALM_ENST00000606643.1_3'UTR	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	296					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|Lung(535;0.201)		GGCCAGGAGCCCCCGGTCACA	0.677000													38	7					1.51926e-22	2.41019e-22	0.870114	1	0
FOXP1	27086	broad.mit.edu	37	3	71008410	71008410	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:71008410C>A	ENST00000318789.4	-	21	2547	c.2022G>T	c.(2020-2022)gaG>gaT	p.E674D	FOXP1_ENST00000468577.1_Missense_Mutation_p.E610D|FOXP1_ENST00000498215.1_Missense_Mutation_p.E674D|FOXP1_ENST00000491238.1_Missense_Mutation_p.E676D|FOXP1_ENST00000493089.1_Missense_Mutation_p.E673D|FOXP1_ENST00000484350.1_Missense_Mutation_p.E598D|FOXP1_ENST00000475937.1_Missense_Mutation_p.E674D	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	674					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ACTCCATGTCCTCGTTTACTG	0.458000			T	PAX5	ALL								70	49					1.46924e-35	2.70693e-35	0.870114	1	0
CCDC74B	91409	broad.mit.edu	37	2	130897828	130897828	+	Missense_Mutation	SNP	C	C	G	rs140048183	byFrequency	TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:130897828C>G	ENST00000392984.3	-	4	1849	c.1106G>C	c.(1105-1107)cGa>cCa	p.R369P	CCDC74B_ENST00000310463.6_Missense_Mutation_p.R267P|CCDC74B_ENST00000409943.3_Missense_Mutation_p.R201P			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	267										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GGTGGGCTTTCGCAGGGGAAG	0.647000													44	125					0	0	0.870114	0	0
COL6A2	1292	broad.mit.edu	37	21	47531946	47531946	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr21:47531946G>T	ENST00000300527.4	+	3	273	c.169G>T	c.(169-171)Gtc>Ttc	p.V57F	COL6A2_ENST00000310645.5_Missense_Mutation_p.V57F|COL6A2_ENST00000397763.1_Missense_Mutation_p.V57F|COL6A2_ENST00000357838.4_Missense_Mutation_p.V57F|COL6A2_ENST00000409416.1_Missense_Mutation_p.V57F	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	57	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTCGGAGAGCGTCACCATGCA	0.602000													63	66					7.25294e-45	1.41598e-44	0.870114	1	0
HEATR1	55127	broad.mit.edu	37	1	236737628	236737628	+	Silent	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:236737628T>A	ENST00000366582.3	-	24	3447	c.3333A>T	c.(3331-3333)acA>acT	p.T1111T	HEATR1_ENST00000366581.2_Silent_p.T1030T	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1111					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AAAATGGTTTTGTAATCTAGA	0.318000													67	56					0	0	0.870114	0	0
MC2R	4158	broad.mit.edu	37	18	13884795	13884795	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:13884795C>T	ENST00000327606.3	-	2	903	c.723G>A	c.(721-723)ttG>ttA	p.L241L		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	241					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGAATGTCATCAAGAGGACAT	0.547000													13	88					0	0	0.479597	0	0
MAGEC3	139081	broad.mit.edu	37	X	140983095	140983095	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:140983095G>T	ENST00000298296.1	+	5	950	c.950G>T	c.(949-951)cGa>cTa	p.R317L	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000448920.1_Missense_Mutation_p.R69L|MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	317	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCTTTCCCGACTTGCACTG	0.597000													13	103					1.11378e-47	2.19625e-47	0.870114	1	0
GRM7	2917	broad.mit.edu	37	3	7620479	7620479	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:7620479G>T	ENST00000486284.1	+	8	2160	c.1886G>T	c.(1885-1887)aGc>aTc	p.S629I	GRM7_ENST00000403881.1_Missense_Mutation_p.S629I|GRM7_ENST00000389336.4_Missense_Mutation_p.S629I|GRM7_ENST00000402647.2_Missense_Mutation_p.S629I|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Missense_Mutation_p.S629I	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	629					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CGGGAACTCAGCTATGTTCTT	0.493000													83	68					3.24273e-39	6.12377e-39	0.870114	1	0
CEP192	55125	broad.mit.edu	37	18	13049294	13049294	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:13049294G>A	ENST00000506447.1	+	16	2584	c.2504G>A	c.(2503-2505)aGg>aAg	p.R835K	CEP192_ENST00000325971.8_Missense_Mutation_p.R239K|CEP192_ENST00000430049.2_Missense_Mutation_p.R360K	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	430										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTAAGTGTGAGGGCACCAGAA	0.393000													32	149					0	0	0.812448	0	0
CPXM1	56265	broad.mit.edu	37	20	2774957	2774957	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr20:2774957G>T	ENST00000380605.2	-	14	2148	c.2084C>A	c.(2083-2085)cCc>cAc	p.P695H		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	695					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GAAATTGCAGGGGAAGGGGCC	0.642000													17	21					1.50039e-11	1.86033e-11	0.608945	1	0
GPR45	11250	broad.mit.edu	37	2	105859054	105859054	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:105859054C>A	ENST00000258456.1	+	1	855	c.739C>A	c.(739-741)Cgg>Agg	p.R247R		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	247						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.R247W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GGCGGGCCTGCGGCGCCTGCA	0.642000													33	101					6.90743e-12	8.67403e-12	0.788014	1	0
TTN	7273	broad.mit.edu	37	2	179424827	179424827	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:179424827C>T	ENST00000589042.1	-	326	86256	c.86032G>A	c.(86032-86034)Gat>Aat	p.D28678N	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D27037N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D26110N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D19613N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D19738N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D19805N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27037							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)			GCCCCACCATCAAACAGCGGC	0.448000													8	41					0	0	0.278610	0	0
CLDN17	26285	broad.mit.edu	37	21	31538266	31538266	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr21:31538266C>A	ENST00000286808.3	-	1	705	c.670G>T	c.(670-672)Gtc>Ttc	p.V224F		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	224					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						AGGCATTAGACATAACTGGTG	0.428000													16	78					2.94398e-08	3.40919e-08	0.557998	1	0
KCNH1	3756	broad.mit.edu	37	1	211192330	211192330	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:211192330G>C	ENST00000367007.4	-	6	996	c.827C>G	c.(826-828)cCa>cGa	p.P276R	KCNH1_ENST00000271751.4_Missense_Mutation_p.P276R	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	276					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTCCCCTGCTGGTCCAACAAA	0.458000													39	153					0	0	0.870114	0	0
SYT9	143425	broad.mit.edu	37	11	7437375	7437375	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:7437375G>T	ENST00000318881.6	+	4	1384	c.1147G>T	c.(1147-1149)Gac>Tac	p.D383Y		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	383	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		AAAGGCAATGGACATAACAGG	0.418000													55	24					7.46257e-40	1.41745e-39	0.870114	1	0
OR5L2	26338	broad.mit.edu	37	11	55594895	55594895	+	Silent	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:55594895C>G	ENST00000378397.1	+	1	201	c.201C>G	c.(199-201)tcC>tcG	p.S67S		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	67					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)				GCCACTTGTCCTTTGTAGATT	0.468000										HNSCC(27;0.073)			124	239					0	0	0.870114	0	0
GRIA3	2892	broad.mit.edu	37	X	122616714	122616714	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:122616714T>C	ENST00000264357.5	+	15	2796	c.2504T>C	c.(2503-2505)cTg>cCg	p.L835P	GRIA3_ENST00000371251.1_Missense_Mutation_p.L835P|GRIA3_ENST00000371256.5_Missense_Mutation_p.L835P|GRIA3_ENST00000542149.1_3'UTR	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	835					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GTCGGAGGTCTGGGGCTGGCC	0.468000													22	87					0	0	0.592651	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730561	140730561	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:140730561G>T	ENST00000523390.1	+	1	734	c.734G>T	c.(733-735)aGg>aTg	p.R245M	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTATACAGGGTTAGCCTC	0.557000													28	75					3.03874e-20	4.63361e-20	0.779181	1	0
ZNF407	55628	broad.mit.edu	37	18	72775371	72775371	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:72775371G>T	ENST00000299687.5	+	8	5694	c.5694G>T	c.(5692-5694)caG>caT	p.Q1898H		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGGCCGGCCAGGTGGCCCGGG	0.687000													11	4					6.81908e-15	9.3134e-15	0.457914	1	0
EIF4E2	9470	broad.mit.edu	37	2	233422637	233422637	+	Missense_Mutation	SNP	A	A	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:233422637A>C	ENST00000409514.1	+	3	221	c.179A>C	c.(178-180)tAc>tCc	p.Y60S	EIF4E2_ENST00000258416.3_Missense_Mutation_p.Y60S|EIF4E2_ENST00000409394.1_Intron|EIF4E2_ENST00000409167.3_Intron|EIF4E2_ENST00000409495.1_Missense_Mutation_p.Y60S|EIF4E2_ENST00000409098.1_Missense_Mutation_p.Y60S|EIF4E2_ENST00000409322.1_Intron			O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	60					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CAGTACAACTACACTTTTTGG	0.522000													54	108					0	0	0.870114	0	0
NLRP14	338323	broad.mit.edu	37	11	7070924	7070924	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:7070924G>T	ENST00000299481.4	+	6	2492	c.2146G>T	c.(2146-2148)Gat>Tat	p.D716Y		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	716					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CACTTTCCCTGATGGTTGTCA	0.358000													46	33					2.14674e-31	3.81902e-31	0.870114	1	0
CCM2L	140706	broad.mit.edu	37	20	30602736	30602736	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr20:30602736G>T	ENST00000300415.8	+	2	73	c.60G>T	c.(58-60)gtG>gtT	p.V20V	CCM2L_ENST00000262659.8_Silent_p.V20V					cerebral cavernous malformation 2-like																		GAAGGCTGGTGTTCCCCAAGG	0.597000													63	138					4.09166e-32	7.30547e-32	0.870114	1	0
NLRP4	147945	broad.mit.edu	37	19	56369428	56369428	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:56369428G>T	ENST00000301295.6	+	3	1091	c.669G>T	c.(667-669)ccG>ccT	p.P223P	NLRP4_ENST00000587891.1_Silent_p.P148P|NLRP4_ENST00000346986.5_Silent_p.P223P	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	223	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGTCTCAACCGGAGAGACTCT	0.557000													47	25					4.25531e-23	6.86161e-23	0.870114	1	0
DRC1	92749	broad.mit.edu	37	2	26676352	26676352	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:26676352G>T	ENST00000288710.2	+	14	1928	c.1854G>T	c.(1852-1854)tgG>tgT	p.W618C		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		CCTCCCCCTGGGTCATCCACC	0.582000													20	26					3.5997e-14	4.8291e-14	0.624587	1	0
SERPINB12	89777	broad.mit.edu	37	18	61228330	61228330	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:61228330G>T	ENST00000382768.1	+	4	457	c.457G>T	c.(457-459)Ggt>Tgt	p.G153C	SERPINB12_ENST00000269491.1_Missense_Mutation_p.G133C			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	133					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						ATACTTAGATGGTGTGATTCA	0.388000													81	115					1.04275e-50	2.07703e-50	0.870114	1	0
GABRQ	55879	broad.mit.edu	37	X	151818238	151818238	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:151818238G>T	ENST00000370306.2	+	6	664	c.644G>T	c.(643-645)tGg>tTg	p.W215L		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	215						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ATATTATTCTGGGATGACAAT	0.433000													29	166					2.87052e-16	4.03847e-16	0.812448	1	0
PLD4	122618	broad.mit.edu	37	14	105397232	105397232	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:105397232C>A	ENST00000540372.1	+	7	1084	c.892C>A	c.(892-894)Ccc>Acc	p.P298T	PLD4_ENST00000392593.4_Missense_Mutation_p.P291T			Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	291					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	CCGTTTCCAGCCCTTCCACGG	0.587000													22	117					4.43304e-23	7.13646e-23	0.706142	1	0
CDK15	65061	broad.mit.edu	37	2	202737050	202737050	+	Splice_Site	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:202737050G>T	ENST00000450471.2	+	11	1144		c.e11+1		CDK15_ENST00000374598.4_Splice_Site|CDK15_ENST00000410091.3_Splice_Site|CDK15_ENST00000434439.1_Splice_Site|CDK15_ENST00000260967.2_Splice_Site	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15								ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TCTGGAACAGGTGAGTACTAC	0.498000													25	36					5.45727e-16	7.65577e-16	0.729181	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973																											CTAGGTAAAGTGGGGAAGCAG	0.483000													4	80					0	0	0.184627	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115609137	115609137	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:115609137C>G	ENST00000361384.2	-	2	2644	c.1727G>C	c.(1726-1728)gGg>gCg	p.G576A	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.G576A	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	576	Nuclear focus formation.				cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TGCACTTTCCCCTAGCAATTT	0.383000								Other identified genes with known or suspected DNA repair function					31	143					0	0	0.769981	0	0
DDX10	1662	broad.mit.edu	37	11	108712202	108712202	+	Splice_Site	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:108712202G>T	ENST00000526794.1	+	15	2278	c.2247_splice	c.e15+1	p.R749_splice	DDX10_ENST00000322536.3_Splice_Site_p.R749_splice			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	749							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GCAAAGCATCGGGTAAGCTTT	0.313000			T	NUP98	AML*								10	52					5.16669e-11	6.33419e-11	0.387290	1	0
L3MBTL3	84456	broad.mit.edu	37	6	130399766	130399766	+	Silent	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:130399766T>C	ENST00000529410.1	+	16	1787	c.1308T>C	c.(1306-1308)ctT>ctC	p.L436L	L3MBTL3_ENST00000533560.1_Silent_p.L411L|L3MBTL3_ENST00000368136.2_Silent_p.L436L|L3MBTL3_ENST00000526019.1_Silent_p.L411L|L3MBTL3_ENST00000368139.2_Silent_p.L411L|L3MBTL3_ENST00000361794.2_Silent_p.L436L			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	436					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GAAGAACCCTTATTACTCCAC	0.363000													22	73					0	0	0.729181	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424217	69424217	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:69424217C>A	ENST00000333026.3	+	6	810	c.710C>A	c.(709-711)cCt>cAt	p.P237H		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	237					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GAGACCTTCCCTGAGGGCACG	0.483000													6	25					0.0381472	0.0386192	0.278610	1	0
KIAA1644	85352	broad.mit.edu	37	22	44681617	44681617	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr22:44681617G>T	ENST00000381176.4	-	4	422	c.290C>A	c.(289-291)aCc>aAc	p.T97N		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	97						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				CAACAAGGCGGTGTAATTGCT	0.507000													42	280					2.24059e-37	4.16716e-37	0.870114	1	0
UBN2	254048	broad.mit.edu	37	7	138968235	138968235	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:138968235A>G	ENST00000288561.8	+	15	2584	c.2335A>G	c.(2335-2337)Att>Gtt	p.I779V	UBN2_ENST00000473989.2_Missense_Mutation_p.I862V	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	862										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TGGTTCTTCCATTCAGAACCC	0.458000													36	49					0	0	0.796494	0	0
GFPT1	2673	broad.mit.edu	37	2	69601245	69601245	+	Splice_Site	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:69601245C>A	ENST00000357308.4	-	2	186	c.7_splice	c.e2-1	p.G3_splice	GFPT1_ENST00000361060.4_Splice_Site_p.G3_splice|GFPT1_ENST00000494201.1_5'UTR	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	3	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						AGCAAATATACCTGCAAATAA	0.328000													15	39					6.94344e-10	8.2648e-10	0.539581	1	0
OR51T1	401665	broad.mit.edu	37	11	4903660	4903660	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:4903660C>T	ENST00000380378.1	+	1	612	c.612C>T	c.(610-612)tcC>tcT	p.S204S	OR51T1_ENST00000322049.1_Silent_p.S177S|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACGAGCTTTCCCATCCATTTT	0.453000													31	73					0	0	0.750413	0	0
GIP	2695	broad.mit.edu	37	17	47044562	47044562	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:47044562C>A	ENST00000357424.2	-	2	133	c.33G>T	c.(31-33)ctG>ctT	p.L11L		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	11					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			lung(2)|skin(1)|stomach(1)	4						ACAGGGACAGCAGCAGCAGAG	0.537000													26	167					6.00712e-18	8.75222e-18	0.760397	1	0
ZNF208	7757	broad.mit.edu	37	19	22156570	22156570	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:22156570C>A	ENST00000397126.4	-	4	1414	c.1266G>T	c.(1264-1266)gaG>gaT	p.E422D	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGGGTTTCTCTCCAGTAT	0.383000													28	11					3.21987e-24	5.26986e-24	0.870114	1	0
GSPT2	23708	broad.mit.edu	37	X	51488470	51488470	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:51488470T>A	ENST00000340438.4	+	1	1990	c.1748T>A	c.(1747-1749)aTt>aAt	p.I583N		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	583					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CAAGTATGCATTGCTCGTTTA	0.428000													34	49					0	0	0.819951	0	0
LPHN2	23266	broad.mit.edu	37	1	82437596	82437596	+	Silent	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:82437596T>C	ENST00000370728.1	+	19	3648	c.3003T>C	c.(3001-3003)atT>atC	p.I1001I	LPHN2_ENST00000271029.4_Silent_p.I1001I|LPHN2_ENST00000370717.2_Silent_p.I1001I|LPHN2_ENST00000370727.1_Silent_p.I1001I|LPHN2_ENST00000370715.1_Silent_p.I988I|LPHN2_ENST00000319517.6_Silent_p.I988I|LPHN2_ENST00000370721.1_Silent_p.I926I|LPHN2_ENST00000370723.1_Silent_p.I988I|LPHN2_ENST00000394879.1_Silent_p.I988I|LPHN2_ENST00000370725.1_Silent_p.I1001I|LPHN2_ENST00000335786.5_Silent_p.I1001I|LPHN2_ENST00000370730.1_Silent_p.I1001I|LPHN2_ENST00000359929.3_Silent_p.I988I|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Silent_p.I988I			O95490	LPHN2_HUMAN	latrophilin 2	1001					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTACCTTCATTATTCTGGTAA	0.333000													13	49					0	0	0.557998	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73973201	73973201	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:73973201G>C	ENST00000476977.1	+	21	3809	c.2118G>C	c.(2116-2118)ttG>ttC	p.L706F	GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.L721F|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.L706F|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.L738F			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	721						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGGAAGCCTTGGGCATCAAGT	0.622000													8	45					0	0	0.335167	0	0
FIBP	9158	broad.mit.edu	37	11	65653136	65653136	+	Splice_Site	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:65653136T>C	ENST00000338369.2	-	5	625		c.e5-2		FIBP_ENST00000357519.4_Splice_Site|FIBP_ENST00000533045.1_Splice_Site	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein						fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		GCATAGTCCCTGCACAGACGA	0.527000											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	68	102					0	0	0.870114	0	0
RXRG	6258	broad.mit.edu	37	1	165397989	165397989	+	Silent	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:165397989T>A	ENST00000359842.5	-	2	566	c.264A>T	c.(262-264)ccA>ccT	p.P88P		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	88	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	AGTTGATTCCTGGAGGCGCTG	0.587000													12	104					0	0	0.457914	0	0
OR6K3	391114	broad.mit.edu	37	1	158687537	158687537	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:158687537G>A	ENST00000368146.1	-	1	416	c.417C>T	c.(415-417)taC>taT	p.Y139Y	OR6K3_ENST00000368145.1_Silent_p.Y123Y			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGATGGCAACGTATCTGTCAA	0.507000													32	206					0	0	0.834066	0	0
SERGEF	26297	broad.mit.edu	37	11	17809940	17809940	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:17809940C>A	ENST00000265965.5	-	11	1220	c.1069G>T	c.(1069-1071)Ggc>Tgc	p.G357C	SERGEF_ENST00000528200.1_3'UTR	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	357					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						TCATTCCAGCCCCAAGAGTAA	0.547000													16	15					1.99824e-07	2.27114e-07	0.520397	1	0
SH3RF3	344558	broad.mit.edu	37	2	109988086	109988086	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:109988086G>A	ENST00000309415.6	+	3	894	c.894G>A	c.(892-894)gcG>gcA	p.A298A		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	298	SH3 2.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AGAACTGGGCGGAAGGCATGC	0.577000													36	31					0	0	0.864702	0	0
C7orf63	79846	broad.mit.edu	37	7	89900941	89900941	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:89900941G>T	ENST00000389297.4	+	7	885	c.634G>T	c.(634-636)Gtt>Ttt	p.V212F	C7orf63_ENST00000497910.1_Missense_Mutation_p.V194F|C7orf63_ENST00000316089.8_Missense_Mutation_p.V212F|C7orf63_ENST00000463311.1_3'UTR	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	212							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AAATCAACTTGTTGAGAAACT	0.353000													31	167					4.11147e-13	5.36897e-13	0.788014	1	0
SETBP1	26040	broad.mit.edu	37	18	42449243	42449243	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:42449243C>A	ENST00000282030.5	+	3	831	c.535C>A	c.(535-537)Cca>Aca	p.P179T	SETBP1_ENST00000426838.4_Missense_Mutation_p.P179T	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	179						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGGATTTCAGCCACAGGTAAG	0.443000									Schinzel-Giedion syndrome				18	87					9.39395e-14	1.24829e-13	0.706142	1	0
TRBV6-9	28598	broad.mit.edu	37	7	142104336	142104336	+	RNA	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:142104336G>T	ENST00000390379.1	-	0	128																											TCATATCCTGGGCACACTGCA	0.507000													48	193					1.46357e-32	2.63229e-32	0.870114	1	0
C11orf63	79864	broad.mit.edu	37	11	122827243	122827243	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:122827243C>G	ENST00000227349.2	+	7	2266	c.1969C>G	c.(1969-1971)Ctt>Gtt	p.L657V	C11orf63_ENST00000531316.1_Missense_Mutation_p.L657V	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	657										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AGACGTGAAGCTTGGAGGCCT	0.458000													46	64					0	0	0.870114	0	0
FSTL5	56884	broad.mit.edu	37	4	162841556	162841556	+	Splice_Site	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:162841556C>A	ENST00000306100.5	-	4	845	c.409_splice	c.e4+1	p.G137_splice	FSTL5_ENST00000427802.2_Splice_Site_p.G136_splice|FSTL5_ENST00000379164.4_Splice_Site_p.G136_splice|FSTL5_ENST00000536695.1_Splice_Site_p.G136_splice	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	137						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTTCATTTACCTTTAAAGAAG	0.378000													10	38					2.27111e-07	2.57235e-07	0.411799	1	0
PDGFRA	5156	broad.mit.edu	37	4	55133749	55133749	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:55133749T>A	ENST00000257290.5	+	7	1293	c.962T>A	c.(961-963)tTc>tAc	p.F321Y	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	321	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AAACCCACCTTCAGCCAGTTG	0.453000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			28	104					0	0	0.819951	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22863646	22863646	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:22863646G>T	ENST00000251822.6	+	4	1007	c.470G>T	c.(469-471)cGa>cTa	p.R157L	RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.R164L|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.R179L	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	157	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AGGGCTAGGCGACCCTTGGCT	0.607000													50	51					7.10663e-31	1.26197e-30	0.870114	1	0
RRN3P1	730092	broad.mit.edu	37	16	21809090	21809090	+	RNA	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:21809090A>G	ENST00000546471.1	-	0	2105																											GCAGCAAAAAAGTTAACCACT	0.348000													3	58					0	0	0.150653	0	0
LOC401242	401242	broad.mit.edu	37	6	28829674	28829674	+	RNA	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:28829674C>A	ENST00000440244.1	-	0	185					NR_033379.1																						GGAGAAAGCCCGAGTCATCAC	0.552000													4	8					0.00909568	0.00929444	0.150653	1	0
PRKCG	5582	broad.mit.edu	37	19	54385842	54385842	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:54385842G>A	ENST00000263431.3	+	1	376	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	PRKCG_ENST00000536044.1_Missense_Mutation_p.E32K|PRKCG_ENST00000540413.1_Missense_Mutation_p.E32K	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	32					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)		GGTGGTCCACGAAGTCAAGAG	0.642000													39	79					0	0	0.870114	0	0
PDZRN3	23024	broad.mit.edu	37	3	73673772	73673772	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:73673772G>T	ENST00000263666.4	-	1	319	c.205C>A	c.(205-207)Ctg>Atg	p.L69M	PDZRN3_ENST00000308537.4_Missense_Mutation_p.L69M|PDZRN3-AS1_ENST00000478988.1_RNA	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	69							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTGAGCGGCAGGACGTGGTTG	0.701000													3	7					3.59834e-05	3.87878e-05	0.217242	1	0
LOC647264	647264	broad.mit.edu	37	13	64321006	64321006	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr13:64321006G>T	ENST00000453638.2	+	1	73	c.73G>T	c.(73-75)Ggc>Tgc	p.G25C																	endometrium(2)|lung(1)|urinary_tract(1)	4						ctctggttatggctatggcta	0.532000													8	16					2.17888e-05	2.3774e-05	0.335167	1	0
SHROOM4	57477	broad.mit.edu	37	X	50351178	50351178	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:50351178C>A	ENST00000376020.2	-	6	2989	c.2964G>T	c.(2962-2964)atG>atT	p.M988I	SHROOM4_ENST00000289292.7_Missense_Mutation_p.M988I|SHROOM4_ENST00000460112.3_Missense_Mutation_p.M872I	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	988					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			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)					TGGAATGAGCCATTTCCCTGC	0.413000													22	44					1.06801e-11	1.32758e-11	0.740014	1	0
DNAI1	27019	broad.mit.edu	37	9	34506794	34506794	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr9:34506794C>T	ENST00000242317.4	+	13	1404	c.1233C>T	c.(1231-1233)taC>taT	p.Y411Y		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	411					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TGGCCATTTACAACCTCAAGA	0.597000									Kartagener syndrome				12	34					0	0	0.500413	0	0
CXXC11	285093	broad.mit.edu	37	2	242814102	242814102	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:242814102C>A	ENST00000343216.3	+	2	423	c.395C>A	c.(394-396)cCa>cAa	p.P132Q		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	132						integral to membrane											GGCCCCGGCCCAGCCCGGCAC	0.711000													4	4					8.12818e-05	8.69486e-05	0.248553	1	0
HNRNPU	3192	broad.mit.edu	37	1	245022670	245022670	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:245022670C>A	ENST00000444376.2	-	5	1201	c.967G>T	c.(967-969)Gag>Tag	p.E323*	HNRNPU_ENST00000283179.9_Nonsense_Mutation_p.E342*	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	342	B30.2/SPRY.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			GGGATCTTCTCTGTAACCTGA	0.368000													30	65					1.61788e-16	2.28928e-16	0.760397	1	0
PTN	5764	broad.mit.edu	37	7	136938270	136938270	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:136938270T>A	ENST00000348225.2	-	3	657	c.230A>T	c.(229-231)aAg>aTg	p.K77M	PTN_ENST00000393083.2_Missense_Mutation_p.K77M	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	77					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						CATGGTTTGCTTGCACTCAGC	0.532000													66	80					0	0	0.870114	0	0
CMSS1	84319	broad.mit.edu	37	3	99879332	99879332	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:99879332G>T	ENST00000421999.2	+	3	358	c.212G>T	c.(211-213)aGg>aTg	p.R71M	CMSS1_ENST00000489081.1_Missense_Mutation_p.R53M	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)																		ACCAAGACCAGGAAAAGAAGA	0.294000													8	3					5.16669e-11	6.33419e-11	0.387290	1	0
MEI1	150365	broad.mit.edu	37	22	42139192	42139192	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr22:42139192G>T	ENST00000401548.3	+	12	1480	c.1440G>T	c.(1438-1440)agG>agT	p.R480S	MEI1_ENST00000540833.1_Missense_Mutation_p.R220S|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	480							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGAGCAGGAGGCCCCTGGTCA	0.478000													11	14					2.32078e-09	2.74249e-09	0.479597	1	0
SAMD4B	55095	broad.mit.edu	37	19	39860574	39860574	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:39860574G>T	ENST00000314471.6	+	6	1511	c.476G>T	c.(475-477)cGc>cTc	p.R159L	SAMD4B_ENST00000598913.1_Missense_Mutation_p.R159L|SAMD4B_ENST00000596368.1_Missense_Mutation_p.R159L	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	159							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AGTGGCTTCCGCTCCCGGCCA	0.662000													10	17					0.000673444	0.000705034	0.361761	1	0
SPG20	23111	broad.mit.edu	37	13	36909550	36909550	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr13:36909550C>A	ENST00000451493.1	-	2	635	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	SPG20_ENST00000494062.2_Nonsense_Mutation_p.E140*|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000438666.2_Nonsense_Mutation_p.E140*|SPG20_ENST00000355182.4_Nonsense_Mutation_p.E140*	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	140					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CCATTTACTTCAGCATGCTGA	0.468000													8	16					0.00307968	0.00318677	0.278610	1	0
RANGAP1	5905	broad.mit.edu	37	22	41650402	41650402	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr22:41650402C>T	ENST00000455915.2	-	10	2639	c.1170G>A	c.(1168-1170)gaG>gaA	p.E390E	RANGAP1_ENST00000407260.4_Silent_p.E335E|RANGAP1_ENST00000356244.3_Silent_p.E390E|RANGAP1_ENST00000405486.1_Silent_p.E390E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	390	Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	p.E390E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						cctcctcctcctcttcttcct	0.562000													4	22					0	0	0.150653	0	0
LTN1	26046	broad.mit.edu	37	21	30315659	30315659	+	Splice_Site	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr21:30315659C>A	ENST00000361371.4	-	24	4371		c.e24-1		LTN1_ENST00000389194.2_Splice_Site	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1								ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AGGCATCAATCTAGAAATTAG	0.294000													39	39					2.77807e-22	4.39302e-22	0.864702	1	0
BDP1	55814	broad.mit.edu	37	5	70805561	70805561	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:70805561C>T	ENST00000358731.4	+	17	2905	c.2642C>T	c.(2641-2643)gCc>gTc	p.A881V	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	881	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.			A -> T (in Ref. 9; AAG09268).	regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GGAAGAAGAGCCATTTCTCCC	0.408000													29	24					0	0	0.750413	0	0
MYBPH	4608	broad.mit.edu	37	1	203140658	203140658	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:203140658C>G	ENST00000255416.4	-	5	703	c.646G>C	c.(646-648)Gac>Cac	p.D216H		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	216	Ig-like C2-type 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		CGCTGGCTGTCCAGGGCATGG	0.672000													8	45					0	0	0.335167	0	0
ATP11C	286410	broad.mit.edu	37	X	138878615	138878615	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:138878615G>T	ENST00000370557.1	-	12	2050	c.1023C>A	c.(1021-1023)ttC>ttA	p.F341L	ATP11C_ENST00000370543.1_Missense_Mutation_p.F344L|ATP11C_ENST00000361648.2_Missense_Mutation_p.F344L|ATP11C_ENST00000359686.2_Missense_Mutation_p.F344L|ATP11C_ENST00000327569.3_Missense_Mutation_p.F344L|ATP11C_ENST00000460773.1_5'UTR			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	344					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)					GGAAGTCGGTGAACATTTTTA	0.308000													12	71					0.00316338	0.00326994	0.479597	1	0
PNMA5	114824	broad.mit.edu	37	X	152159231	152159231	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:152159231G>T	ENST00000439251.1	-	2	1350	c.912C>A	c.(910-912)ggC>ggA	p.G304G	PNMA5_ENST00000452693.1_Silent_p.G304G|PNMA5_ENST00000361887.5_Silent_p.G304G|PNMA5_ENST00000535214.1_Silent_p.G304G	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	304					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCAGCTTGCCCCTGAGGG	0.542000													8	77					5.68852e-11	6.95658e-11	0.307466	1	0
ATP8B4	79895	broad.mit.edu	37	15	50336854	50336854	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr15:50336854G>A	ENST00000284509.6	-	5	378	c.237C>T	c.(235-237)acC>acT	p.T79T	ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Silent_p.T79T	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	79					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GCACAATGGTGGTAAACCAGG	0.383000													16	44					0	0	0.557998	0	0
RCVRN	5957	broad.mit.edu	37	17	9808423	9808423	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:9808423C>A	ENST00000226193.5	-	1	515	c.75G>T	c.(73-75)gaG>gaT	p.E25D		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	25	EF-hand 1.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						ACAGCTCCTCCTCCGAGAACT	0.602000													4	2					0.00909568	0.00929444	0.150653	1	0
MUC4	4585	broad.mit.edu	37	3	195515641	195515641	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:195515641G>T	ENST00000463781.3	-	2	3269	c.2810C>A	c.(2809-2811)cCc>cAc	p.P937H	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P937H	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	942	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGAGGTGTGGGTGGGACTGT	0.567000													10	49					4.14922e-12	5.25068e-12	0.500413	1	0
CD28	940	broad.mit.edu	37	2	204591649	204591649	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:204591649G>T	ENST00000324106.7	+	2	495	c.346G>T	c.(346-348)Gtt>Ttt	p.V116F	CD28_ENST00000374478.4_Intron|CD28_ENST00000458610.2_Missense_Mutation_p.V130F|CD28_ENST00000374481.3_Intron	NM_006139.3	NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	116	Ig-like V-type.				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CAAAATTGAAGTTATGTATCC	0.383000													18	54					1.01871e-10	1.23809e-10	0.575678	1	0
FZD10	11211	broad.mit.edu	37	12	130648287	130648287	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:130648287C>A	ENST00000229030.4	+	1	1284	c.800C>A	c.(799-801)tCc>tAc	p.S267Y	FZD10_ENST00000539839.1_Silent_p.L234L			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	267					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		ATCTTCCTCTCCATGTGCTAC	0.652000													47	152					4.33383e-22	6.83118e-22	0.870114	1	0
ACE	1636	broad.mit.edu	37	17	61564382	61564382	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:61564382C>T	ENST00000577647.1	+	4	576	c.531C>T	c.(529-531)taC>taT	p.Y177Y	ACE_ENST00000421982.2_Silent_p.Y61Y|ACE_ENST00000290863.6_Silent_p.Y177Y|ACE_ENST00000413513.3_Silent_p.Y177Y|ACE_ENST00000290866.4_Silent_p.Y751Y|ACE_ENST00000428043.1_Silent_p.Y751Y|ACE_ENST00000490216.2_Silent_p.Y177Y			P12821	ACE_HUMAN	angiotensin I converting enzyme	751	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AAACCACCTACAGCGTGGCCA	0.587000													21	147					0	0	0.693898	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521642	125521642	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:125521642C>T	ENST00000431078.1	+	16	2812	c.2448C>T	c.(2446-2448)tcC>tcT	p.S816S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	816	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCGATATTTCCTTCTTTTTTA	0.413000													40	42					0	0	0.853193	0	0
TRHDE	29953	broad.mit.edu	37	12	72667058	72667058	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:72667058T>C	ENST00000261180.4	+	1	596	c.500T>C	c.(499-501)gTc>gCc	p.V167A	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	167					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TCCGGGGAGGTCAACGTGGAG	0.647000													25	97					0	0	0.729181	0	0
NOBOX	135935	broad.mit.edu	37	7	144098666	144098666	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:144098666A>T	ENST00000467773.1	-	4	316	c.317T>A	c.(316-318)cTg>cAg	p.L106Q	NOBOX_ENST00000483238.1_Missense_Mutation_p.L106Q|NOBOX_ENST00000223140.5_Missense_Mutation_p.L21Q	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	106					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TCCTGCAGCCAGGGGCTTCTC	0.607000													11	41					0	0	0.457914	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746096	77746096	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:77746096C>A	ENST00000409088.3	-	3	1313	c.899G>T	c.(898-900)tGg>tTg	p.W300L	LRRTM4_ENST00000409093.1_Missense_Mutation_p.W300L|LRRTM4_ENST00000409282.1_Missense_Mutation_p.W301L|LRRTM4_ENST00000409911.1_Missense_Mutation_p.W301L|LRRTM4_ENST00000409884.1_Missense_Mutation_p.W300L	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	300						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TAATGATATCCACGCATTGAC	0.373000													7	22					2.80697e-09	3.30906e-09	0.387290	1	0
ELMOD2	255520	broad.mit.edu	37	4	141461453	141461453	+	Silent	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:141461453T>C	ENST00000323570.3	+	6	663	c.531T>C	c.(529-531)ctT>ctC	p.L177L		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	177	ELMO.				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					TAATCAATCTTGTGTAAGTGA	0.363000													3	130					0	0	0.184627	0	0
SLC39A12	221074	broad.mit.edu	37	10	18266929	18266929	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:18266929C>A	ENST00000377369.2	+	5	1123	c.850C>A	c.(850-852)Cat>Aat	p.H284N	SLC39A12_ENST00000377374.4_Missense_Mutation_p.H284N|SLC39A12_ENST00000377371.3_Missense_Mutation_p.H284N|SLC39A12_ENST00000539911.1_Missense_Mutation_p.H150N	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	284					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CATAATAACCCATGATCAGGA	0.373000													49	83					4.44712e-29	7.75679e-29	0.870114	1	0
DENND2A	27147	broad.mit.edu	37	7	140301255	140301255	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:140301255A>T	ENST00000275884.6	-	2	1360	c.943T>A	c.(943-945)Tct>Act	p.S315T	DENND2A_ENST00000492720.1_Missense_Mutation_p.S315T|DENND2A_ENST00000496613.1_Missense_Mutation_p.S315T|DENND2A_ENST00000537639.1_Missense_Mutation_p.S315T			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	315										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CTGTTCACagaggaaggtggg	0.592000													14	47					0	0	0.457914	0	0
MAPK4	5596	broad.mit.edu	37	18	48252513	48252513	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:48252513C>G	ENST00000400384.2	+	5	2071	c.1035C>G	c.(1033-1035)agC>agG	p.S345R	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.S134R	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	345					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CTAACCAGAGCCAGCTGTCCA	0.582000													14	73					0	0	0.557998	0	0
LY9	4063	broad.mit.edu	37	1	160769811	160769811	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:160769811C>A	ENST00000263285.5	+	2	423	c.393C>A	c.(391-393)gcC>gcA	p.A131A	LY9_ENST00000368041.2_Silent_p.A91A|LY9_ENST00000368039.2_Silent_p.A131A|LY9_ENST00000341032.4_Silent_p.A131A|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	131	Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCTACAAAGCCCAGATAAACC	0.448000													96	132					6.29542e-64	1.28526e-63	0.870114	1	0
C10orf82	143379	broad.mit.edu	37	10	118424414	118424414	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:118424414C>A	ENST00000369210.3	-	4	373	c.319G>T	c.(319-321)Ggc>Tgc	p.G107C	C10orf82_ENST00000588184.1_Missense_Mutation_p.G107C	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	107										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CCTGCCCAGCCAGGGATCGGG	0.488000													50	79					1.57914e-17	2.29058e-17	0.870114	1	0
PTPN14	5784	broad.mit.edu	37	1	214560255	214560255	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:214560255T>G	ENST00000366956.5	-	12	1192	c.998A>C	c.(997-999)cAg>cCg	p.Q333P	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	333					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATGTACGGCTGCTGCCTGGG	0.622000													6	25					0	0	0.217242	0	0
NR5A2	2494	broad.mit.edu	37	1	200017460	200017460	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:200017460C>T	ENST00000367362.3	+	5	870	c.624C>T	c.(622-624)acC>acT	p.T208T	NR5A2_ENST00000236914.3_Silent_p.T162T|NR5A2_ENST00000544748.1_Silent_p.T136T	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	208					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CTGACCTGACCATTTCCTCTG	0.498000													54	236					0	0	0.870114	0	0
KIF5A	3798	broad.mit.edu	37	12	57965894	57965894	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:57965894C>A	ENST00000455537.2	+	14	1687	c.1413C>A	c.(1411-1413)agC>agA	p.S471R	KIF5A_ENST00000286452.5_Missense_Mutation_p.S382R	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	471					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GGGAGCTGAGCCACCTGCAAT	0.577000													10	35					4.36969e-10	5.22024e-10	0.435327	1	0
KLHL28	54813	broad.mit.edu	37	14	45398340	45398340	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:45398340C>A	ENST00000396128.4	-	5	1726	c.1607G>T	c.(1606-1608)gGg>gTg	p.G536V	KLHL28_ENST00000355081.2_Missense_Mutation_p.G550V	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	536										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATAGGAAGACCCTGAGTGACC	0.428000													49	124					2.84144e-21	4.40804e-21	0.870114	1	0
NEU3	10825	broad.mit.edu	37	11	74717077	74717077	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:74717077C>G	ENST00000294064.4	+	3	1853	c.926C>G	c.(925-927)cCa>cGa	p.P309R	NEU3_ENST00000545272.1_Missense_Mutation_p.P200R|NEU3_ENST00000544263.1_Missense_Mutation_p.P276R|NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000531509.1_Missense_Mutation_p.P309R|NEU3_ENST00000529024.1_Intron	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	309										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						TGTGAGCCCCCACATGGTTGC	0.597000													39	43					0	0	0.840704	0	0
DLGAP4	22839	broad.mit.edu	37	20	35068259	35068259	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr20:35068259C>G	ENST00000373913.3	+	5	1824	c.1344C>G	c.(1342-1344)agC>agG	p.S448R	DLGAP4_ENST00000339266.5_Missense_Mutation_p.S448R|DLGAP4_ENST00000401952.2_Missense_Mutation_p.S448R|DLGAP4_ENST00000373907.2_Missense_Mutation_p.S448R			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	448					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACGACTCCAGCTGCATCAGCC	0.637000											OREG0025903	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	67					0	0	0.520397	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685303	125685303	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:125685303G>T	ENST00000371126.1	-	1	1531	c.1289C>A	c.(1288-1290)gCg>gAg	p.A430E		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	430										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GGTGTAGAGCGCATTGGGAAA	0.567000													87	131					1.29253e-56	2.61166e-56	0.870114	1	0
FRS3	10817	broad.mit.edu	37	6	41738534	41738534	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:41738534C>A	ENST00000373018.3	-	7	1553	c.1302G>T	c.(1300-1302)caG>caT	p.Q434H	FRS3_ENST00000259748.2_Missense_Mutation_p.Q434H	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	434					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCGAGGGGTTCTGGGGCCCCT	0.642000													25	54					3.1745e-13	4.16202e-13	0.729181	1	0
STS	412	broad.mit.edu	37	X	7252074	7252074	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:7252074A>T	ENST00000217961.4	+	9	1524	c.1304A>T	c.(1303-1305)cAa>cTa	p.Q435L		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	435					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	GGAAAAAGCCAACGCTCCGAT	0.488000									Ichthyosis				15	21					0	0	0.500413	0	0
BOLL	66037	broad.mit.edu	37	2	198641836	198641836	+	Splice_Site	SNP	A	A	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:198641836A>C	ENST00000321801.7	-	4	829	c.257_splice	c.e4-1	p.Y87_splice	BOLL_ENST00000433157.1_Splice_Site_p.Y75_splice|BOLL_ENST00000430004.1_Splice_Site_p.Y75_splice|BOLL_ENST00000282278.8_Intron|BOLL_ENST00000392296.4_Splice_Site_p.Y75_splice	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	75	RRM.				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						ACGAAACCATACCTAAATAAA	0.229000													10	40					0	0	0.479597	0	0
CLCA4	22802	broad.mit.edu	37	1	87038380	87038380	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:87038380G>A	ENST00000370563.3	+	9	1486	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N	CLCA4_ENST00000496322.1_3'UTR|RP4-651E10.4_ENST00000456587.1_RNA|CLCA4_ENST00000263723.5_Missense_Mutation_p.D195N	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	482						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AGGAAATACTGATCTCTCCCA	0.388000													42	72					0	0	0.870114	0	0
PTPN18	26469	broad.mit.edu	37	2	131116539	131116539	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:131116539G>T	ENST00000175756.5	+	2	294	c.193G>T	c.(193-195)Gtg>Ttg	p.V65L	PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	65	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					CTACAAAGACGTGCTGCCTTG	0.652000													21	42					6.21321e-17	8.86828e-17	0.639603	1	0
TLN2	83660	broad.mit.edu	37	15	63092602	63092602	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr15:63092602G>T	ENST00000561311.1	+	48	6500	c.6270G>T	c.(6268-6270)aaG>aaT	p.K2090N	TLN2_ENST00000306829.6_Missense_Mutation_p.K2090N			Q9Y4G6	TLN2_HUMAN	talin 2	2090					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ATGTGGCCAAGGCCCTTTCTG	0.547000													45	81					9.22156e-22	1.44658e-21	0.870114	1	0
EMCN	51705	broad.mit.edu	37	4	101439137	101439137	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:101439137C>A	ENST00000296420.4	-	0	113				EMCN_ENST00000502327.1_5'UTR|EMCN_ENST00000305864.3_De_novo_Start_OutOfFrame|EMCN_ENST00000511970.1_De_novo_Start_OutOfFrame	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin							extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		CCCTCCCAGCCTGGCAGGGCC	0.468000													24	15					1.10513e-12	1.41676e-12	0.624587	1	0
NPAP1	23742	broad.mit.edu	37	15	24922795	24922795	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr15:24922795G>T	ENST00000329468.2	+	1	2255	c.1781G>T	c.(1780-1782)aGc>aTc	p.S594I		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCTTCCCTAAGCTCCAGAGTG	0.478000													48	27					5.66675e-16	7.9383e-16	0.870114	1	0
FNBP1L	54874	broad.mit.edu	37	1	93965084	93965084	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:93965084T>A	ENST00000260506.8	+	2	235	c.84T>A	c.(82-84)taT>taA	p.Y28*	FNBP1L_ENST00000370256.4_Nonsense_Mutation_p.Y28*|FNBP1L_ENST00000370253.2_Nonsense_Mutation_p.Y28*|FNBP1L_ENST00000271234.7_Nonsense_Mutation_p.Y28*|FNBP1L_ENST00000604705.1_Nonsense_Mutation_p.Y28*	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	28	FCH.|Induction of membrane tubulation (By similarity).				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TGGAAAGATATGCCAAATTTG	0.308000													7	26					0	0	0.307466	0	0
ULK2	9706	broad.mit.edu	37	17	19748649	19748649	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:19748649C>A	ENST00000395544.4	-	7	1010	c.511G>T	c.(511-513)Gct>Tct	p.A171S	ULK2_ENST00000361658.2_Missense_Mutation_p.A171S	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	171	Protein kinase.				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					AGTGTTGCAGCCATCATGTTA	0.378000													29	87					7.53189e-24	1.22659e-23	0.834066	1	0
CCDC178	374864	broad.mit.edu	37	18	30672802	30672802	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:30672802A>T	ENST00000383096.3	-	21	2493	c.2311T>A	c.(2311-2313)Tta>Ata	p.L771I	CCDC178_ENST00000583930.1_Missense_Mutation_p.L771I|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.L771I|CCDC178_ENST00000300227.8_Missense_Mutation_p.L733I|CCDC178_ENST00000403303.1_Missense_Mutation_p.L771I|CCDC178_ENST00000402325.1_Intron|CCDC178_ENST00000581852.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.L771I					coiled-coil domain containing 178																		TTTTCTTTTAAGAATGTAATC	0.264000													45	35					0	0	0.870114	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128990005	128990005	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:128990005C>A	ENST00000274487.4	+	14	2310	c.2165C>A	c.(2164-2166)cCa>cAa	p.P722Q	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	722	Cys-rich.				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)		GTAGAAAAACCATGTGCCTTG	0.323000													18	30					1.01871e-10	1.23809e-10	0.575678	1	0
TAF2	6873	broad.mit.edu	37	8	120831711	120831711	+	Silent	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:120831711T>C	ENST00000378164.2	-	3	472	c.174A>G	c.(172-174)gcA>gcG	p.A58A		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	58					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TATTCAAGTTTGCAACTGTGG	0.328000													68	83					0	0	0.870114	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132778	91132778	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:91132778C>G	ENST00000373094.1	+	2	2384	c.1539C>G	c.(1537-1539)ttC>ttG	p.F513L	PCDH11X_ENST00000361655.2_Missense_Mutation_p.F513L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.F513L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.F513L|PCDH11X_ENST00000504220.1_Missense_Mutation_p.F513L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.F513L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.F513L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.F513L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.F513L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	513	Cadherin 5.				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						CACCTGAATTCAGCCTGGATT	0.443000													11	47					0	0	0.361761	0	0
ADCK2	90956	broad.mit.edu	37	7	140373976	140373976	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:140373976C>A	ENST00000072869.4	+	1	1024	c.846C>A	c.(844-846)gaC>gaA	p.D282E	ADCK2_ENST00000476491.1_Missense_Mutation_p.D282E	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	282	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CTAAAGCTGACCTGGTTGGAT	0.542000													22	94					3.1745e-13	4.16202e-13	0.729181	1	0
RBP3	5949	broad.mit.edu	37	10	48388538	48388538	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:48388538G>T	ENST00000224600.4	-	1	2453	c.2340C>A	c.(2338-2340)atC>atA	p.I780I		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	780	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGCGCAGGTCGATCACCAGCG	0.612000													4	21					0.150653	0.151424	0.150653	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17699575	17699575	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:17699575G>T	ENST00000399080.2	-	1	131	c.108C>A	c.(106-108)ctC>ctA	p.L36L		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	36										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCTCAAGACAGAGCCGCTTGC	0.607000													26	87					1.7367e-05	1.89704e-05	0.706142	1	0
LRGUK	136332	broad.mit.edu	37	7	133932382	133932382	+	Silent	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:133932382A>T	ENST00000285928.2	+	17	2127	c.2058A>T	c.(2056-2058)acA>acT	p.T686T		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	686							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CTGATCACACACTCCTATTTC	0.388000													29	118					0	0	0.740014	0	0
LRRC4	64101	broad.mit.edu	37	7	127669219	127669219	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:127669219G>T	ENST00000249363.3	-	2	1732	c.1475C>A	c.(1474-1476)aCg>aAg	p.T492K	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	492	Thr-rich.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		AATGAGCACCGTGGTAGAGGT	0.567000													32	164					2.75727e-19	4.14647e-19	0.804634	1	0
TTN	7273	broad.mit.edu	37	2	179592033	179592033	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:179592033G>T	ENST00000589042.1	-	69	20283	c.20059C>A	c.(20059-20061)Ctt>Att	p.L6687I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L6370I|TTN_ENST00000342992.6_Missense_Mutation_p.L5443I|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6370	Ig-like 48.						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)			TTGCATTCAAGTCGTGAAGAG	0.413000													7	13					3.09899e-07	3.49793e-07	0.307466	1	0
TNN	63923	broad.mit.edu	37	1	175097170	175097170	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:175097170G>A	ENST00000239462.4	+	14	3161	c.3048G>A	c.(3046-3048)gaG>gaA	p.E1016E		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1016	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TTTGGTAGGAGATGCAGCTGG	0.552000													83	93					0	0	0.870114	0	0
XIRP2	129446	broad.mit.edu	37	2	168110665	168110665	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:168110665A>G	ENST00000409728.1	+	10	1488	c.1399A>G	c.(1399-1401)Agt>Ggt	p.S467G	XIRP2_ENST00000420519.1_Missense_Mutation_p.S467G|XIRP2_ENST00000409605.1_Missense_Mutation_p.S212G|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.S434G|XIRP2_ENST00000409043.1_Missense_Mutation_p.S434G	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCATTGCAACAGTAAACTAAG	0.388000													3	20					0	0	0.115264	0	0
KPRP	448834	broad.mit.edu	37	1	152732863	152732863	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:152732863C>T	ENST00000368773.1	+	2	857	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	KPRP_ENST00000606109.1_Missense_Mutation_p.R267C	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	267	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTTTTCCCCCGCAGCTGTTC	0.622000													29	72					0	0	0.717897	0	0
IMPG2	50939	broad.mit.edu	37	3	100994515	100994515	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:100994515C>A	ENST00000193391.7	-	6	845	c.658G>T	c.(658-660)Gag>Tag	p.E220*		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	220					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ACACTCTCCTCTGGCCTTTCC	0.443000													40	19					8.00217e-19	1.18703e-18	0.870114	1	0
RASAL2	9462	broad.mit.edu	37	1	178252803	178252803	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:178252803G>T	ENST00000448150.3	+	2	1071	c.253G>T	c.(253-255)Gta>Tta	p.V85L	RASAL2_ENST00000367649.3_Missense_Mutation_p.V103L|RASAL2_ENST00000465723.1_3'UTR	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CAGCCAGTTGGTATTGCTCAA	0.453000													39	273					2.59344e-38	4.86023e-38	0.870114	1	0
KRT3	3850	broad.mit.edu	37	12	53187934	53187934	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:53187934A>T	ENST00000417996.2	-	2	901	c.827T>A	c.(826-828)cTg>cAg	p.L276Q	KRT3_ENST00000309505.3_Missense_Mutation_p.L276Q	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	276	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CATGTTCTTCAGCTCAGAGTC	0.552000													47	155					0	0	0.870114	0	0
NOS1	4842	broad.mit.edu	37	12	117768316	117768316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:117768316G>T	ENST00000317775.6	-	2	1244	c.559C>A	c.(559-561)Ccc>Acc	p.P187T	NOS1_ENST00000338101.4_Missense_Mutation_p.P187T|NOS1_ENST00000344089.3_Missense_Mutation_p.P187T	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	187	Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTCTTCGCGGGGTCCTGGCCT	0.637000													36	122					2.45108e-15	3.38056e-15	0.840704	1	0
FCRL4	83417	broad.mit.edu	37	1	157559052	157559052	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:157559052G>C	ENST00000271532.1	-	3	384	c.249C>G	c.(247-249)taC>taG	p.Y83*		NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	83	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CCTGGCATCTGTACAGTCCAG	0.488000													77	82					0	0	0.870114	0	0
IGKV2-30	28919	broad.mit.edu	37	2	89544404	89544404	+	RNA	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:89544404A>G	ENST00000468494.1	-	0	249																											GAAACCTTATAAATTAGGCGC	0.512000													43	128					0	0	0.870114	0	0
IPCEF1	26034	broad.mit.edu	37	6	154567771	154567771	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:154567771C>A	ENST00000265198.4	-	5	352	c.197G>T	c.(196-198)tGg>tTg	p.W66L	IPCEF1_ENST00000367220.4_Missense_Mutation_p.W67L|IPCEF1_ENST00000519344.1_Missense_Mutation_p.W38L|IPCEF1_ENST00000422970.2_Missense_Mutation_p.W67L|OPRM1_ENST00000337049.4_Intron	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						CAGTATCACCCAGAACTTTTT	0.438000													102	68					7.8029e-68	1.61315e-67	0.870114	1	0
NME8	51314	broad.mit.edu	37	7	37903979	37903979	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:37903979C>G	ENST00000199447.4	+	9	856	c.484C>G	c.(484-486)Ccg>Gcg	p.P162A	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.P162A	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	162	NDK 1.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TATTATCAAACCGGATGCTGT	0.284000													6	31					0	0	0.217242	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62489758	62489758	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:62489758C>G	ENST00000301785.5	-	7	1382	c.1190G>C	c.(1189-1191)cGg>cCg	p.R397P	RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.R397P	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	397	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TAGAAGGGCCCGGTCTGCCAG	0.468000													62	109					0	0	0.870114	0	0
PDE4B	5142	broad.mit.edu	37	1	66458592	66458592	+	Translation_Start_Site	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:66458592G>C	ENST00000423207.2	+	1	488	c.3G>C	c.(1-3)atG>atC	p.M1I	PDE4B_ENST00000371049.3_Intron|PDE4B_ENST00000329654.4_Intron	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TACAAGACATGACAGCAAAAG	0.403000													9	43					0	0	0.307466	0	0
GRIK2	2898	broad.mit.edu	37	6	102074281	102074281	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:102074281G>A	ENST00000369138.1	+	3	800	c.310G>A	c.(310-312)Gct>Act	p.A104T	GRIK2_ENST00000358361.3_Missense_Mutation_p.A104T|GRIK2_ENST00000413795.1_Missense_Mutation_p.A104T|GRIK2_ENST00000369134.4_Missense_Mutation_p.A55T|GRIK2_ENST00000318991.6_Missense_Mutation_p.A104T|GRIK2_ENST00000421544.1_Missense_Mutation_p.A104T|GRIK2_ENST00000369137.3_Missense_Mutation_p.A104T	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	104					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TCTTGGGGTGGCTGCCATCTT	0.517000													111	237					0	0	0.870114	0	0
FLJ36000	284124	broad.mit.edu	37	17	21911016	21911016	+	RNA	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:21911016C>T	ENST00000581223.2	+	0	1741					NR_027084.1																						accaggatgacgaaaccacag	0.667000													4	2					0	0	0.150653	0	0
COL21A1	81578	broad.mit.edu	37	6	56044915	56044915	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:56044915G>A	ENST00000244728.5	-	3	498	c.101C>T	c.(100-102)gCt>gTt	p.A34V	COL21A1_ENST00000370819.1_Missense_Mutation_p.A34V|COL21A1_ENST00000535941.1_Missense_Mutation_p.A34V	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	34					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATCTGTCGGAGCAGTACGACA	0.328000													5	15					0	0	0.278610	0	0
MTMR8	55613	broad.mit.edu	37	X	63488883	63488883	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:63488883G>T	ENST00000374852.3	-	14	1716	c.1649C>A	c.(1648-1650)aCc>aAc	p.T550N	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	550						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TTGAGAGCAGGTACAGATCTC	0.438000													28	75					4.62619e-21	7.13174e-21	0.796494	1	0
KIF13A	63971	broad.mit.edu	37	6	17764467	17764467	+	Silent	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:17764467T>C	ENST00000378814.5	-	37	5147	c.5148A>G	c.(5146-5148)ctA>ctG	p.L1716L	KIF13A_ENST00000378826.2_Silent_p.L1729L|KIF13A_ENST00000378843.2_Silent_p.L1716L|KIF13A_ENST00000378816.5_Silent_p.L1729L|KIF13A_ENST00000259711.6_Silent_p.L1764L	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1764					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTTATTTGGTAGACTCCTCC	0.468000													20	26					0	0	0.608945	0	0
TRBV11-1	28582	broad.mit.edu	37	7	142224260	142224260	+	RNA	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:142224260G>A	ENST00000390367.3	-	0	24																											GAGAAGCCTGGTGCTCATGGC	0.532000													23	40					0	0	0.740014	0	0
GBP6	163351	broad.mit.edu	37	1	89843662	89843662	+	Splice_Site	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:89843662G>C	ENST00000370456.4	+	4	412	c.318_splice	c.e4-1	p.G107_splice	GBP6_ENST00000535065.1_5'UTR	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	107							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TGCTTTTTAGGGTGACCCTAA	0.443000													58	191					0	0	0.870114	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661420	113661420	+	RNA	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:113661420C>A	ENST00000393544.2	+	0	1468																											CCCCCCTAGTCCAGGAGACTA	0.498000													115	201					6.95862e-65	1.42957e-64	0.870114	1	0
ABCB11	8647	broad.mit.edu	37	2	169780291	169780291	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:169780291G>T	ENST00000263817.6	-	28	3931	c.3807C>A	c.(3805-3807)acC>acA	p.T1269T		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1269	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TGACAATGCAGGTCCGACCCT	0.522000													18	58					1.55469e-16	2.20623e-16	0.654019	1	0
ADAMTS2	9509	broad.mit.edu	37	5	178634682	178634682	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:178634682G>A	ENST00000251582.7	-	4	824	c.723C>T	c.(721-723)cgC>cgT	p.R241R	ADAMTS2_ENST00000274609.5_Silent_p.R241R	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	241			R -> H (in dbSNP:rs11750821).		collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGCCCAGGGCGCGGCTGAGGC	0.672000													33	56					0	0	0.796494	0	0
EEPD1	80820	broad.mit.edu	37	7	36194548	36194548	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:36194548C>A	ENST00000242108.4	+	2	1333	c.615C>A	c.(613-615)acC>acA	p.T205T	EEPD1_ENST00000534978.1_Silent_p.T205T	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	205					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CCCCATCCACCCACACGAACG	0.647000													40	68					8.01111e-26	1.34019e-25	0.853193	1	0
NPY1R	4886	broad.mit.edu	37	4	164247596	164247596	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:164247596C>A	ENST00000296533.2	-	2	642	c.111G>T	c.(109-111)ttG>ttT	p.L37F	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	37					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATATCATGGCCAAGGGCAGAT	0.403000													43	29					3.77016e-25	6.23282e-25	0.864702	1	0
OR6N2	81442	broad.mit.edu	37	1	158747354	158747354	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:158747354C>A	ENST00000339258.1	-	1	71	c.72G>T	c.(70-72)agG>agT	p.R24S		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AAAGCCAGCCCCTGACATAGC	0.493000													42	147					3.05275e-18	4.46766e-18	0.864702	1	0
TRPC5	7224	broad.mit.edu	37	X	111155630	111155630	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:111155630C>A	ENST00000262839.2	-	3	1707	c.789G>T	c.(787-789)agG>agT	p.R263S		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	263					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCTCCAGTTCCCTGGAGCTCC	0.522000													62	198					2.80266e-47	5.50442e-47	0.870114	1	0
FAM47A	158724	broad.mit.edu	37	X	34148618	34148618	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:34148618T>A	ENST00000346193.3	-	1	1829	c.1778A>T	c.(1777-1779)gAg>gTg	p.E593V		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	593										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGAAACGCACTCTTTTGTGCT	0.468000													12	44					0	0	0.387290	0	0
OR4C6	219432	broad.mit.edu	37	11	55433368	55433368	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:55433368C>A	ENST00000314259.3	+	1	755	c.726C>A	c.(724-726)ctC>ctA	p.L242L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	242					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						GCTCCCACCTCACGGTGGTTG	0.493000													33	208					2.87052e-16	4.03847e-16	0.812448	1	0
SRPR	6734	broad.mit.edu	37	11	126136725	126136725	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:126136725C>G	ENST00000332118.6	-	5	773	c.619G>C	c.(619-621)Gag>Cag	p.E207Q	SRPR_ENST00000532259.1_Missense_Mutation_p.E179Q	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	207					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		ATCAGCTCCTCTTTGGAAAGT	0.512000													33	160					0	0	0.788014	0	0
CXorf67	340602	broad.mit.edu	37	X	51150588	51150588	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:51150588C>A	ENST00000342995.2	+	1	822	c.720C>A	c.(718-720)gcC>gcA	p.A240A						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						GCTGCACCGCCCAGCCAGGCC	0.657000													9	24					0.000673444	0.000705034	0.361761	1	0
RGPD3	653489	broad.mit.edu	37	2	107040316	107040316	+	Silent	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:107040316T>C	ENST00000409886.3	-	20	4194	c.4107A>G	c.(4105-4107)aaA>aaG	p.K1369K	RGPD3_ENST00000304514.7_Silent_p.K1369K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1369	RanBD1 2.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GACCAACATCTTTATCATATC	0.363000													129	288					0	0	0.870114	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139786	142139786	+	RNA	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:142139786G>C	ENST00000390374.3	-	0	29																											GGTCAGGCCAGGATGAGGGCT	0.532000													32	61					0	0	0.870114	0	0
SFMBT2	57713	broad.mit.edu	37	10	7285575	7285575	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:7285575C>A	ENST00000361972.4	-	9	1155	c.1065G>T	c.(1063-1065)ggG>ggT	p.G355G	SFMBT2_ENST00000397167.1_Silent_p.G355G	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	355					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTGGCAAAATCCCCAAAGAAT	0.428000													52	99					2.91325e-39	5.51216e-39	0.870114	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125299403	125299403	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:125299403C>A	ENST00000538699.1	-	2	585	c.505G>T	c.(505-507)Gaa>Taa	p.E169*	DCAF12L2_ENST00000360028.2_Nonsense_Mutation_p.E169*	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	169										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TTGGGGTTTTCGCCGCCGGTG	0.677000													32	83					4.92203e-23	7.91069e-23	0.819951	1	0
POM121L12	285877	broad.mit.edu	37	7	53104070	53104070	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:53104070C>G	ENST00000408890.4	+	1	722	c.706C>G	c.(706-708)Ctg>Gtg	p.L236V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	236										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCCAGGGCCTCTGAAGCCGAG	0.647000													12	61					0	0	0.387290	0	0
RPL17-C18orf32	100526842	broad.mit.edu	37	18	47010030	47010030	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:47010030G>A	ENST00000584895.1	-	6	633	c.619C>T	c.(619-621)Cct>Tct	p.P207S	RPL17-C18orf32_ENST00000332968.6_Missense_Mutation_p.P169S|C18orf32_ENST00000582392.1_Missense_Mutation_p.P30L|C18orf32_ENST00000318240.3_Missense_Mutation_p.P30L|C18orf32_ENST00000579820.1_Missense_Mutation_p.P30L	NM_001199355.1|NM_001199356.1	NP_001186284.1|NP_001186285.1																					ACTAACGAAGGGGGAAACCAG	0.393000													77	64					0	0	0.870114	0	0
PLA2G2A	5320	broad.mit.edu	37	1	20304610	20304610	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:20304610A>G	ENST00000375111.3	-	5	461	c.190T>C	c.(190-192)Tgt>Cgt	p.C64R	PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Missense_Mutation_p.C64R	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	64					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		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;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGTGACACAGCAGCTGTGA	0.562000													11	49					0	0	0.411799	0	0
HERC6	55008	broad.mit.edu	37	4	89352391	89352391	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:89352391G>T	ENST00000380265.5	+	16	2259	c.2076G>T	c.(2074-2076)atG>atT	p.M692I	HERC6_ENST00000264346.7_Missense_Mutation_p.M728I	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	728					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TTGAAGAGATGACCAAGCCAG	0.398000													26	108					4.3181e-19	6.45415e-19	0.769981	1	0
ZNF804B	219578	broad.mit.edu	37	7	88963839	88963839	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:88963839C>A	ENST00000333190.4	+	4	2152	c.1543C>A	c.(1543-1545)Caa>Aaa	p.Q515K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	515						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGAGAGAGCCAAGTCTCAGG	0.373000										HNSCC(36;0.09)			27	31					1.38854e-25	2.30719e-25	0.729181	1	0
CASQ1	844	broad.mit.edu	37	1	160165728	160165728	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:160165728C>T	ENST00000368079.3	+	6	950	c.675C>T	c.(673-675)ttC>ttT	p.F225F	CASQ1_ENST00000368078.3_Silent_p.F231F	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	231						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGATTGATTTCTACGAGGCCT	0.547000													98	88					0	0	0.870114	0	0
SERPINB8	5271	broad.mit.edu	37	18	61654322	61654322	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:61654322A>T	ENST00000397985.2	+	7	1191	c.935A>T	c.(934-936)aAg>aTg	p.K312M	SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.K130M|SERPINB8_ENST00000353706.2_Missense_Mutation_p.K312M	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	312					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CCTCTGTCCAAGGTTGCCCAC	0.522000													6	38					0	0	0.248553	0	0
LRFN1	57622	broad.mit.edu	37	19	39804836	39804836	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:39804836C>T	ENST00000248668.4	-	1	1140	c.1141G>A	c.(1141-1143)Gcg>Acg	p.A381T		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	381	Ig-like.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TCCACGGGCGCCGTCGCTTCC	0.692000													5	30					0	0	0.248553	0	0
CENPE	1062	broad.mit.edu	37	4	104067201	104067201	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:104067201T>C	ENST00000265148.3	-	30	4287	c.4198A>G	c.(4198-4200)Acc>Gcc	p.T1400A	CENPE_ENST00000380026.3_Missense_Mutation_p.T1375A	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1400					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ACGATTTTGGTAGTTTCATTG	0.358000													14	93					0	0	0.500413	0	0
LRP1B	53353	broad.mit.edu	37	2	141113986	141113986	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:141113986T>A	ENST00000389484.3	-	75	12426	c.11455A>T	c.(11455-11457)Aat>Tat	p.N3819Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3819	EGF-like 8.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTATTTGATTACAATATGCA	0.318000										TSP Lung(27;0.18)			31	74					0	0	0.769981	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212410	26212410	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:26212410G>A	ENST00000379034.1	+	2	596	c.447G>A	c.(445-447)caG>caA	p.Q149Q		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	149	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AGGAGTCTCAGGGAGCTTCAC	0.517000													14	75					0	0	0.575678	0	0
CCDC34	91057	broad.mit.edu	37	11	27379046	27379046	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:27379046C>T	ENST00000317945.6	-	2	441	c.402G>A	c.(400-402)caG>caA	p.Q134Q	CCDC34_ENST00000328697.6_Silent_p.Q134Q	NM_080654.2	NP_542385.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	134										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						GTAAGCGCACCTGTTTCTGTT	0.443000													24	78					0	0	0.729181	0	0
GRIK2	2898	broad.mit.edu	37	6	102074282	102074282	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:102074282C>G	ENST00000369138.1	+	3	801	c.311C>G	c.(310-312)gCt>gGt	p.A104G	GRIK2_ENST00000358361.3_Missense_Mutation_p.A104G|GRIK2_ENST00000413795.1_Missense_Mutation_p.A104G|GRIK2_ENST00000369134.4_Missense_Mutation_p.A55G|GRIK2_ENST00000318991.6_Missense_Mutation_p.A104G|GRIK2_ENST00000421544.1_Missense_Mutation_p.A104G|GRIK2_ENST00000369137.3_Missense_Mutation_p.A104G	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	104					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CTTGGGGTGGCTGCCATCTTC	0.522000													111	235					0	0	0.870114	0	0
HSD11B1	3290	broad.mit.edu	37	1	209907803	209907803	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:209907803C>A	ENST00000367028.2	+	7	985	c.816C>A	c.(814-816)tgC>tgA	p.C272*	HSD11B1_ENST00000367027.3_Nonsense_Mutation_p.C272*|HSD11B1_ENST00000261465.1_Nonsense_Mutation_p.C272*	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	272					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GAAATCCATGCAGGAAGATCC	0.473000													111	103					1.89775e-83	3.95666e-83	0.870114	1	0
PKP2	5318	broad.mit.edu	37	12	33031063	33031063	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:33031063T>A	ENST00000340811.4	-	3	859	c.751A>T	c.(751-753)Agc>Tgc	p.S251C	PKP2_ENST00000070846.6_Missense_Mutation_p.S251C	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	251					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TTGCCCATGCTGCGGCTGGTC	0.632000													18	26					0	0	0.693898	0	0
HTR2C	3358	broad.mit.edu	37	X	114141328	114141328	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:114141328C>A	ENST00000371950.3	+	6	1356	c.632C>A	c.(631-633)cCg>cAg	p.P211Q	HTR2C_ENST00000276198.1_Silent_p.R243R|HTR2C_ENST00000371951.1_Silent_p.R243R	NM_001256761.1	NP_001243690.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	0					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CGTTCTGCGCCGACAAGCTTT	0.498000													150	475					3.98455e-89	8.39662e-89	0.870114	1	0
LINGO1	84894	broad.mit.edu	37	15	77906996	77906996	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr15:77906996T>C	ENST00000355300.6	-	2	1427	c.1253A>G	c.(1252-1254)tAc>tGc	p.Y418C	LINGO1_ENST00000561030.1_Missense_Mutation_p.Y412C	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	418	Ig-like C2-type.|LRRCT.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GCAGGTGAAGTAGTTGGGCAG	0.652000													5	10					0	0	0.217242	0	0
TRIM67	440730	broad.mit.edu	37	1	231349600	231349600	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:231349600G>A	ENST00000444294.3	+	9	3015	c.2157G>A	c.(2155-2157)gtG>gtA	p.V719V	TRIM67_ENST00000449018.3_Silent_p.V659V|TRIM67_ENST00000366652.2_Silent_p.V721V|TRIM67_ENST00000366653.5_Silent_p.V721V	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	721	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CCGTGGGCGTGCTGCTGGACC	0.617000													126	93					0	0	0.870114	0	0
FAT3	120114	broad.mit.edu	37	11	92533554	92533554	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:92533554C>A	ENST00000298047.6	+	9	7392	c.7375C>A	c.(7375-7377)Cag>Aag	p.Q2459K	FAT3_ENST00000409404.2_Missense_Mutation_p.Q2459K|FAT3_ENST00000525166.1_Missense_Mutation_p.Q2309K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2459	Cadherin 22.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCATCGGAAGCAGCGGATGGA	0.478000										TCGA Ovarian(4;0.039)			33	109					4.17593e-13	5.43148e-13	0.834066	1	0
GNA15	2769	broad.mit.edu	37	19	3151776	3151776	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:3151776G>A	ENST00000262958.3	+	4	815	c.557G>A	c.(556-558)cGc>cAc	p.R186H	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	186					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.R186H(1)		large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CTCCGCAGCCGCATGCCCACC	0.647000													5	172					0	0	0.278610	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217280185	217280185	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:217280185G>T	ENST00000357276.4	+	3	1088	c.758G>T	c.(757-759)gGg>gTg	p.G253V	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.G253V	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	253	HARP 1.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GTGTTGATTGGGTACAATGCG	0.423000									Schimke Immuno-Osseous Dysplasia				47	86					1.12612e-26	1.90663e-26	0.870114	1	0
RELN	5649	broad.mit.edu	37	7	103138672	103138672	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:103138672C>A	ENST00000424685.2	-	54	8854	c.8695G>T	c.(8695-8697)Gaa>Taa	p.E2899*	RELN_ENST00000428762.1_Nonsense_Mutation_p.E2899*|RELN_ENST00000343529.5_Nonsense_Mutation_p.E2899*|CTB-107G13.1_ENST00000422488.1_RNA			P78509	RELN_HUMAN	reelin	2899					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)		TTGATTTCTTCACTGTCAAAG	0.383000													22	103					4.31634e-10	5.17539e-10	0.760397	1	0
TCEB3B	51224	broad.mit.edu	37	18	44561610	44561610	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:44561610T>C	ENST00000332567.4	-	1	378	c.26A>G	c.(25-27)cAc>cGc	p.H9R	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	9	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTCCACTGCGTGCAGCGTAGT	0.607000													46	51					0	0	0.870114	0	0
TMEM31	203562	broad.mit.edu	37	X	102968696	102968696	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:102968696C>T	ENST00000319560.6	+	3	468	c.277C>T	c.(277-279)Ctt>Ttt	p.L93F	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	93						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TCTTTTTGAGCTTTATCCTGA	0.453000													44	104					0	0	0.864702	0	0
SNX8	29886	broad.mit.edu	37	7	2302898	2302898	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:2302898T>A	ENST00000222990.3	-	7	924	c.882A>T	c.(880-882)gaA>gaT	p.E294D		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	294					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GCAGCGCGAATTCCACAGACA	0.617000													30	45					0	0	0.812448	0	0
EPHA5	2044	broad.mit.edu	37	4	66213908	66213908	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:66213908G>A	ENST00000273854.3	-	15	3122	c.2522C>T	c.(2521-2523)cCa>cTa	p.P841L	EPHA5_ENST00000432638.2_Missense_Mutation_p.P678L|EPHA5_ENST00000354839.4_Missense_Mutation_p.P819L|EPHA5_ENST00000511294.1_Missense_Mutation_p.P842L	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	841	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCATCTGATTGGAATTTTTCC	0.388000										TSP Lung(17;0.13)			16	75					0	0	0.557998	0	0
SORCS1	114815	broad.mit.edu	37	10	108367013	108367013	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:108367013G>T	ENST00000263054.6	-	23	3083	c.3076C>A	c.(3076-3078)Cct>Act	p.P1026T	SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000369698.1_Missense_Mutation_p.P561T|SORCS1_ENST00000344440.6_Missense_Mutation_p.P1026T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1026						integral to membrane	neuropeptide receptor activity|protein binding	p.P1026A(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GGTAAGCCAGGGAGCACCGCC	0.562000													10	39					2.27111e-07	2.57235e-07	0.411799	1	0
SLC26A3	1811	broad.mit.edu	37	7	107431676	107431676	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:107431676C>T	ENST00000340010.5	-	5	571	c.387G>A	c.(385-387)ccG>ccA	p.P129P	SLC26A3_ENST00000422236.2_Silent_p.P94P	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	129					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GAATCGGAAACGGACCTAATT	0.433000													6	199					0	0	0.217242	0	0
VCAN	1462	broad.mit.edu	37	5	82779396	82779396	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:82779396C>A	ENST00000265077.3	+	2	624	c.59C>A	c.(58-60)gCg>gAg	p.A20E	VCAN_ENST00000502527.2_Missense_Mutation_p.A20E|VCAN_ENST00000342785.4_Missense_Mutation_p.A20E|VCAN_ENST00000512590.2_5'UTR|VCAN_ENST00000513984.1_Missense_Mutation_p.A20E|VCAN_ENST00000343200.5_Missense_Mutation_p.A20E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	20					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GTAACCCATGCGCTACATAAA	0.343000													24	40					1.12875e-08	1.31487e-08	0.706142	1	0
RPS6KA6	27330	broad.mit.edu	37	X	83320046	83320046	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:83320046C>A	ENST00000262752.2	-	21	2052	c.2045G>T	c.(2044-2046)tGg>tTg	p.W682L	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.W682L	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	682	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GTGAGTTATCCATGAGTGCTT	0.363000													49	120					4.33383e-22	6.83118e-22	0.870114	1	0
ST8SIA2	8128	broad.mit.edu	37	15	92988069	92988069	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr15:92988069G>T	ENST00000268164.3	+	5	989	c.752G>T	c.(751-753)cGt>cTt	p.R251L	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.R230L	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	251					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GGCAAGGAGCGTGTTGAGTGG	0.647000													47	29					3.70713e-34	6.75399e-34	0.870114	1	0
UBQLN2	29978	broad.mit.edu	37	X	56591011	56591011	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:56591011C>A	ENST00000338222.5	+	1	986	c.705C>A	c.(703-705)ctC>ctA	p.L235L		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	235			L -> H (in dbSNP:rs17002693).			cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GGCAGACACTCGAAATTGCCA	0.453000													6	56					8.12818e-05	8.69486e-05	0.248553	1	0
MIB2	142678	broad.mit.edu	37	1	1558937	1558937	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:1558937G>T	ENST00000357210.4	+	3	495	c.279G>T	c.(277-279)acG>acT	p.T93T	MIB2_ENST00000355826.5_Silent_p.T136T|MIB2_ENST00000520777.1_Silent_p.T150T|MIB2_ENST00000504599.1_Silent_p.T49T|MIB2_ENST00000512004.1_Intron|MIB2_ENST00000378708.1_Silent_p.T35T|MIB2_ENST00000505820.2_Silent_p.T150T|MIB2_ENST00000378710.3_Silent_p.T93T|MIB2_ENST00000378712.1_Silent_p.T35T|MIB2_ENST00000518681.1_Silent_p.T150T|MIB2_ENST00000360522.4_Silent_p.T93T	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	93	MIB/HERC2 1.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCGTGGGCACGGTGGTGGAGC	0.746000													3	6					0.004672	0.00480912	0.115264	1	0
TUB	7275	broad.mit.edu	37	11	8117188	8117188	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:8117188C>T	ENST00000305253.4	+	6	947	c.706C>T	c.(706-708)Ctc>Ttc	p.L236F	TUB_ENST00000534099.1_Missense_Mutation_p.L187F|TUB_ENST00000299506.2_Missense_Mutation_p.L181F	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	181					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CGGGCAGGATCTCCGTGCCAC	0.637000													4	5					0	0	0.184627	0	0
IGHV4-28	28400	broad.mit.edu	37	14	106780678	106780678	+	RNA	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:106780678C>A	ENST00000390612.2	-	0	257																											CCAGTCCCTTCCCTGGGGGCT	0.562000													90	82					4.98208e-43	9.63071e-43	0.870114	1	0
CD101	9398	broad.mit.edu	37	1	117554557	117554557	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:117554557C>T	ENST00000256652.4	+	3	868	c.810C>T	c.(808-810)acC>acT	p.T270T	CD101_ENST00000369470.1_Silent_p.T270T	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	270					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAAAGCAGACCGATCAAACCA	0.433000													9	67					0	0	0.387290	0	0
OR10G9	219870	broad.mit.edu	37	11	123894340	123894340	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:123894340G>T	ENST00000375024.1	+	1	621	c.621G>T	c.(619-621)tcG>tcT	p.S207S		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TAGTGGCCTCGGGCTGCTTTC	0.547000													72	121					1.76847e-28	3.05209e-28	0.870114	1	0
NUP210P1	255330	broad.mit.edu	37	3	126385991	126385991	+	RNA	SNP	A	A	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:126385991A>C	ENST00000357061.3	+	0	443					NR_034158.1																						TGAAGGAGGCAGCACAGCTTC	0.517000													4	2					0	0	0.150653	0	0
ZHX3	23051	broad.mit.edu	37	20	39832588	39832588	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr20:39832588G>A	ENST00000309060.3	-	4	1384	c.969C>T	c.(967-969)ttC>ttT	p.F323F	ZHX3_ENST00000560361.1_Silent_p.F323F|ZHX3_ENST00000559234.1_Silent_p.F323F|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Silent_p.F323F|ZHX3_ENST00000432768.2_Silent_p.F323F|ZHX3_ENST00000540170.1_Silent_p.F323F			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	323	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GGAACTTGTGGAAGGAGTTCT	0.532000													19	94					0	0	0.592651	0	0
DAB1	1600	broad.mit.edu	37	1	57499107	57499107	+	Splice_Site	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:57499107C>A	ENST00000420954.2	-	8	705		c.e8-1		DAB1_ENST00000371231.1_Splice_Site|DAB1_ENST00000371236.2_Intron|DAB1_ENST00000485760.1_Intron|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000371234.4_Intron|DAB1_ENST00000439789.2_Splice_Site			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)						cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGTTTCTGTTCTGTAACCACA	0.433000													64	74					2.17402e-21	3.38334e-21	0.870114	1	0
DUOX2	50506	broad.mit.edu	37	15	45387160	45387160	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr15:45387160T>A	ENST00000389039.6	-	32	4754	c.4369A>T	c.(4369-4371)Aag>Tag	p.K1457*	DUOX2_ENST00000603300.1_Nonsense_Mutation_p.K1457*			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1457					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGGTCGAACTTCTCAGCCAGC	0.592000													50	27					0	0	0.870114	0	0
MC2R	4158	broad.mit.edu	37	18	13884741	13884741	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:13884741C>A	ENST00000327606.3	-	2	957	c.777G>T	c.(775-777)caG>caT	p.Q259H		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	259					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGCCGTTCACCTGGAAGAGAG	0.512000													52	88					2.02796e-37	3.77885e-37	0.870114	1	0
GLI3	2737	broad.mit.edu	37	7	42007450	42007450	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:42007450G>T	ENST00000395925.3	-	14	2259	c.2175C>A	c.(2173-2175)aaC>aaA	p.N725K	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	725					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CGAGCCCACTGTTGGAATAGT	0.517000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				36	197					5.44703e-19	8.09226e-19	0.847076	1	0
PDE10A	10846	broad.mit.edu	37	6	165809914	165809914	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:165809914T>A	ENST00000366882.1	-	15	1437	c.1283A>T	c.(1282-1284)tAc>tTc	p.Y428F	PDE10A_ENST00000539869.2_Missense_Mutation_p.Y438F|PDE10A_ENST00000354448.4_Missense_Mutation_p.Y428F			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	428					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CGTTACCCGGTAAATGCACTC	0.408000													26	99					0	0	0.760397	0	0
FRS3	10817	broad.mit.edu	37	6	41738694	41738694	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:41738694C>T	ENST00000373018.3	-	7	1393	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	FRS3_ENST00000259748.2_Missense_Mutation_p.R381H	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	381					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCGTGGCTGCGGATGGCGGC	0.677000													22	87					0	0	0.706142	0	0
DMD	1756	broad.mit.edu	37	X	31200875	31200875	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:31200875C>A	ENST00000357033.4	-	68	10160	c.9954G>T	c.(9952-9954)gaG>gaT	p.E3318D	DMD_ENST00000378680.2_Missense_Mutation_p.E250D|DMD_ENST00000378707.3_Missense_Mutation_p.E858D|DMD_ENST00000378677.2_Missense_Mutation_p.E3314D|DMD_ENST00000541735.1_Missense_Mutation_p.E858D|DMD_ENST00000359836.1_Missense_Mutation_p.E858D|DMD_ENST00000474231.1_Missense_Mutation_p.E858D|DMD_ENST00000343523.2_Missense_Mutation_p.E858D|DMD_ENST00000378702.4_Missense_Mutation_p.E250D|DMD_ENST00000361471.4_Missense_Mutation_p.E250D|DMD_ENST00000378723.3_Missense_Mutation_p.E250D	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3318	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGATTGGACACTCTTTGCAGA	0.428000													77	122					6.38486e-60	1.29544e-59	0.870114	1	0
PCDHA8	56140	broad.mit.edu	37	5	140222983	140222983	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:140222983C>T	ENST00000531613.1	+	1	2077	c.2077C>T	c.(2077-2079)Ctg>Ttg	p.L693L	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.L693L|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGCGGCGCTGGTGGATGT	0.642000													31	72					0	0	0.796494	0	0
NRSN1	140767	broad.mit.edu	37	6	24145986	24145986	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:24145986C>A	ENST00000378491.4	+	4	701	c.400C>A	c.(400-402)Ctg>Atg	p.L134M		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	134					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GGCAGGGTGCCTGCTGATGTC	0.502000													44	24					4.74273e-12	5.97864e-12	0.870114	1	0
AGMO	392636	broad.mit.edu	37	7	15470712	15470712	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:15470712C>A	ENST00000342526.3	-	4	600	c.431G>T	c.(430-432)gGa>gTa	p.G144V		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	144					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TGTTTGGTGTCCGGCCCACAT	0.393000													29	128					9.93527e-08	1.13711e-07	0.769981	1	0
HLA-F	3134	broad.mit.edu	37	6	29691472	29691472	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:29691472G>A	ENST00000376861.1	+	3	486	c.102G>A	c.(100-102)tcG>tcA	p.S34S	HLA-F_ENST00000259951.7_Silent_p.S34S|HLA-F_ENST00000440587.2_5'UTR|HLA-F_ENST00000434407.2_Silent_p.S34S|HLA-F_ENST00000334668.4_Silent_p.S34S			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	34	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CCGCTGTGTCGCGGCCCGGCC	0.687000													9	22					0	0	0.435327	0	0
TSNAX	7257	broad.mit.edu	37	1	231700528	231700528	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:231700528G>A	ENST00000366639.4	+	6	908	c.750G>A	c.(748-750)ttG>ttA	p.L250L	TRAX_ENST00000602962.1_Intron	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	250					cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				AACAAAGTTTGGCCAAAGTGG	0.388000													57	97					0	0	0.870114	0	0
EGLN3	112399	broad.mit.edu	37	14	34419800	34419800	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:34419800G>A	ENST00000547327.2	-	1	487	c.159C>T	c.(157-159)acC>acT	p.T53T	EGLN3_ENST00000250457.3_Silent_p.T53T|EGLN3_ENST00000553215.1_Intron			Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	53					apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	GCAGGGCCCCGGTGCAGTGCA	0.711000													13	21					0	0	0.435327	0	0
CKM	1158	broad.mit.edu	37	19	45810791	45810791	+	Silent	SNP	G	G	A	rs150271912		TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:45810791G>A	ENST00000221476.3	-	7	1069	c.895C>T	c.(895-897)Ctg>Ttg	p.L299L		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	299	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	AGGTGCGCCAGCTTCACATGC	0.627000													17	32					0	0	0.557998	0	0
PKP1	5317	broad.mit.edu	37	1	201291196	201291196	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:201291196G>A	ENST00000263946.3	+	9	1752	c.1501G>A	c.(1501-1503)Gcc>Acc	p.A501T	PKP1_ENST00000367324.3_Missense_Mutation_p.A480T|PKP1_ENST00000352845.3_Missense_Mutation_p.A501T	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	501					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GGAGTATAACGCCCGCAACGC	0.612000													12	89					0	0	0.435327	0	0
HYOU1	10525	broad.mit.edu	37	11	118918745	118918745	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:118918745C>A	ENST00000404233.3	-	21	2548	c.2424G>T	c.(2422-2424)ctG>ctT	p.L808L	HYOU1_ENST00000525859.1_Silent_p.L746L|HYOU1_ENST00000529972.1_Silent_p.L746L	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	808						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CCCGAAAAAACAGCCCTTGGC	0.572000													18	47					5.26018e-13	6.80566e-13	0.608945	1	0
NBEAL1	65065	broad.mit.edu	37	2	204003370	204003370	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:204003370G>T	ENST00000449802.1	+	30	4993	c.4660G>T	c.(4660-4662)Gac>Tac	p.D1554Y		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1554							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GCTGCTCTTTGACTGTCTGTC	0.353000													30	69					2.1956e-27	3.7497e-27	0.796494	1	0
ABCA1	19	broad.mit.edu	37	9	107579636	107579636	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr9:107579636T>C	ENST00000374736.3	-	24	3906	c.3512A>G	c.(3511-3513)cAt>cGt	p.H1171R		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1171					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTCACTCTCATGGTCGCTGCC	0.582000													29	54					0	0	0.796494	0	0
KANK4	163782	broad.mit.edu	37	1	62718808	62718808	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:62718808C>T	ENST00000371153.4	-	8	2991	c.2613G>A	c.(2611-2613)gaG>gaA	p.E871E	KANK4_ENST00000317477.4_Silent_p.E9E|KANK4_ENST00000371150.1_Silent_p.E227E|KANK4_ENST00000354381.3_Silent_p.E243E	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	871										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTTCATTGGTCTCTGCGGAAG	0.493000													34	133					0	0	0.847076	0	0
ARHGAP1	392	broad.mit.edu	37	11	46701321	46701321	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:46701321G>A	ENST00000311956.4	-	11	1001	c.904C>T	c.(904-906)Cct>Tct	p.P302S		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	302	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		AAATCCACAGGCAGCCCTGGG	0.627000													54	42					0	0	0.870114	0	0
TRIM10	10107	broad.mit.edu	37	6	30128393	30128393	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:30128393G>T	ENST00000449742.2	-	1	318	c.243C>A	c.(241-243)aaC>aaA	p.N81K	TRIM10_ENST00000376704.3_Missense_Mutation_p.N81K	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	81						cytoplasm	zinc ion binding			ovary(1)	1						GGCGCTCAATGTTCTCCACCA	0.577000													57	205					4.83814e-26	8.13536e-26	0.870114	1	0
CD81	975	broad.mit.edu	37	11	2415357	2415357	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:2415357A>G	ENST00000263645.5	+	3	470	c.214A>G	c.(214-216)Atg>Gtg	p.M72V	CD81_ENST00000524805.1_3'UTR|CD81_ENST00000481687.1_Missense_Mutation_p.M78V|CD81_ENST00000381036.3_Missense_Mutation_p.M110V|CD81_ENST00000492627.1_Start_Codon_SNP_p.M1V|CD81_ENST00000526072.1_Start_Codon_SNP_p.M1V	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	72					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGGCGCTGTCATGATGTTCGT	0.657000													53	19					0	0	0.870114	0	0
DSTYK	25778	broad.mit.edu	37	1	205156769	205156769	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:205156769C>T	ENST00000367162.3	-	2	461	c.431G>A	c.(430-432)aGt>aAt	p.S144N	DSTYK_ENST00000367161.3_Missense_Mutation_p.S144N|DSTYK_ENST00000367160.4_Missense_Mutation_p.S144N	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	144						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GCTCTCCTCACTGCCCAGCTT	0.587000													10	80					0	0	0.387290	0	0
B3GALT2	8707	broad.mit.edu	37	1	193150382	193150382	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:193150382A>T	ENST00000367434.4	-	2	1066	c.311T>A	c.(310-312)cTg>cAg	p.L104Q	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	104					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						TTGTGGTGACAGGTCTGTGTT	0.418000													37	159					0	0	0.812448	0	0
ZNF860	344787	broad.mit.edu	37	3	32032046	32032046	+	Missense_Mutation	SNP	G	G	A	rs143925165	by1000genomes	TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:32032046G>A	ENST00000360311.4	+	2	2024	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCGTCACAATTCA	0.403000													4	149					0	0	0.184627	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138447660	138447660	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:138447660G>T	ENST00000310018.2	-	6	684	c.402C>A	c.(400-402)acC>acA	p.T134T	ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000353492.4_Silent_p.T134T|ATP6V0A4_ENST00000393054.1_Silent_p.T134T	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	134					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGAAGTCTTGGGTTTTCTTCA	0.473000													86	133					2.84368e-68	5.89133e-68	0.870114	1	0
GRIK1	2897	broad.mit.edu	37	21	31023488	31023488	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr21:31023488G>T	ENST00000399914.1	-	6	1425	c.904C>A	c.(904-906)Ctg>Atg	p.L302M	GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399907.1_Missense_Mutation_p.L302M|GRIK1_ENST00000389125.3_Missense_Mutation_p.L302M|GRIK1_ENST00000327783.4_Missense_Mutation_p.L302M|GRIK1_ENST00000309434.7_Missense_Mutation_p.L302M|GRIK1_ENST00000399909.1_Missense_Mutation_p.L302M|GRIK1_ENST00000399913.1_Missense_Mutation_p.L302M|GRIK1_ENST00000535441.1_Missense_Mutation_p.L302M|GRIK1_ENST00000389124.2_Missense_Mutation_p.L302M			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	302					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GGGGCCTGCAGTCTCTCCATG	0.468000													70	75					2.75442e-36	5.10347e-36	0.870114	1	0
SPTB	6710	broad.mit.edu	37	14	65216153	65216153	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:65216153G>T	ENST00000389722.3	-	35	6911	c.6858C>A	c.(6856-6858)gcC>gcA	p.A2286A	SPTB_ENST00000556626.1_Silent_p.A2286A|SPTB_ENST00000342835.4_5'UTR	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACTCGTTGATGGCGGTGCTCA	0.692000													15	21					0.00152264	0.00158561	0.592651	1	0
AASDHPPT	60496	broad.mit.edu	37	11	105948494	105948494	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:105948494G>T	ENST00000278618.4	+	1	279	c.57G>T	c.(55-57)tgG>tgT	p.W19C		NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	19					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		GCGTGCGCTGGGCCTTTTCCT	0.627000													30	74					6.29468e-14	8.41004e-14	0.804634	1	0
HCFC2	29915	broad.mit.edu	37	12	104473248	104473248	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:104473248G>T	ENST00000229330.4	+	4	603	c.499G>T	c.(499-501)Gag>Tag	p.E167*		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	167					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TTATGAGTTGGAGCTACAGCA	0.333000													22	53					1.74197e-06	1.93728e-06	0.706142	1	0
SLITRK6	84189	broad.mit.edu	37	13	86368821	86368821	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr13:86368821G>A	ENST00000400286.2	-	2	2421	c.1823C>T	c.(1822-1824)tCt>tTt	p.S608F		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	608						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TATTAGAACAGACAGTGGCAC	0.423000													79	81					0	0	0.870114	0	0
PPM1B	5495	broad.mit.edu	37	2	44428948	44428948	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:44428948G>T	ENST00000378551.2	+	2	1022	c.610G>T	c.(610-612)Gac>Tac	p.D204Y	PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409895.4_Missense_Mutation_p.D204Y|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409432.3_Missense_Mutation_p.D204Y|PPM1B_ENST00000282412.4_Missense_Mutation_p.D204Y	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	204					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGCTCTGGGGGACTATGATTA	0.443000													32	46					1.96642e-18	2.88643e-18	0.827153	1	0
OSBP	5007	broad.mit.edu	37	11	59382832	59382832	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:59382832G>A	ENST00000263847.1	-	1	785	c.306C>T	c.(304-306)atC>atT	p.I102I		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	102	PH.				lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGTAGCCTTTGATATAATTGG	0.662000													6	14					0	0	0.217242	0	0
NALCN	259232	broad.mit.edu	37	13	101795469	101795469	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr13:101795469G>A	ENST00000251127.6	-	17	2161	c.2080C>T	c.(2080-2082)Cgc>Tgc	p.R694C		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	694						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.R694C(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATTGCTGAGCGTTTGGAGTGG	0.458000													38	109					0	0	0.859065	0	0
ZBTB33	10009	broad.mit.edu	37	X	119387931	119387931	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:119387931C>A	ENST00000326624.2	+	2	889	c.661C>A	c.(661-663)Cca>Aca	p.P221T	ZBTB33_ENST00000557385.1_Missense_Mutation_p.P221T	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	221					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						CCAATCTAACCCAGGCCCTGT	0.443000													28	91					9.78306e-22	1.52492e-21	0.740014	1	0
RP1L1	94137	broad.mit.edu	37	8	10470408	10470408	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:10470408C>A	ENST00000382483.3	-	4	1423	c.1200G>T	c.(1198-1200)caG>caT	p.Q400H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	400					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGGGCCCTGGCTGCCCGCCTC	0.662000													20	22					2.89027e-11	3.56116e-11	0.624587	1	0
CPXM1	56265	broad.mit.edu	37	20	2777742	2777742	+	Splice_Site	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr20:2777742T>C	ENST00000380605.2	-	7	897		c.e7-2			NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1						cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CATTGGGGTCTGGTGGAGGTT	0.542000													21	23					0	0	0.639603	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105484119	105484119	+	Splice_Site	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:105484119C>G	ENST00000369774.4	-	5	583	c.306_splice	c.e5-1	p.A103_splice	SH3PXD2A_ENST00000355946.2_Splice_Site_p.A103_splice			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	103	PX.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGGACAAGTGCCTGTGGAGAG	0.517000													12	33					0	0	0.479597	0	0
SELP	6403	broad.mit.edu	37	1	169578892	169578892	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:169578892C>G	ENST00000263686.6	-	8	1220	c.1183G>C	c.(1183-1185)Gga>Cga	p.G395R	SELP_ENST00000367786.2_Missense_Mutation_p.G333R|SELP_ENST00000367794.2_Missense_Mutation_p.G333R|SELP_ENST00000367791.2_Intron|SELP_ENST00000458599.2_Missense_Mutation_p.G333R|SELP_ENST00000367793.2_Missense_Mutation_p.G333R|SELP_ENST00000367788.2_Missense_Mutation_p.G333R|SELP_ENST00000367792.2_Missense_Mutation_p.G333R	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	395	Sushi 4.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TCCATGCTTCCGTGGACAGGA	0.488000													13	80					0	0	0.435327	0	0
CLK1	1195	broad.mit.edu	37	2	201722455	201722455	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:201722455C>A	ENST00000434813.2	-	7	1278	c.944G>T	c.(943-945)tGc>tTc	p.C315F	CLK1_ENST00000321356.4_Missense_Mutation_p.C273F|CLK1_ENST00000409769.2_Missense_Mutation_p.C96F	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	273	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CACAGACTTGCATATCTGATA	0.328000													10	24					4.68919e-08	5.39834e-08	0.361761	1	0
IQSEC2	23096	broad.mit.edu	37	X	53277966	53277966	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:53277966C>A	ENST00000396435.3	-	6	2596	c.2396G>T	c.(2395-2397)aGc>aTc	p.S799I	IQSEC2_ENST00000375368.5_Missense_Mutation_p.S789I|IQSEC2_ENST00000375365.2_Missense_Mutation_p.S594I	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	789	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CATCTGCCGGCTGAGGCCTTT	0.592000													50	84					9.86064e-34	1.78656e-33	0.870114	1	0
CDC42BPG	55561	broad.mit.edu	37	11	64595176	64595176	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:64595176C>G	ENST00000342711.5	-	31	4046	c.4047G>C	c.(4045-4047)caG>caC	p.Q1349H		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1349	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GCGGCACGGTCTGCACCCATT	0.672000													40	52					0	0	0.870114	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110448623	110448623	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:110448623G>T	ENST00000378402.5	+	30	3666	c.3562G>T	c.(3562-3564)Gtt>Ttt	p.V1188F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1188	IPT/TIG 5.				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)			AAAGGTATTAGTTGGAAATGA	0.363000										HNSCC(38;0.096)			15	58					3.32936e-07	3.74935e-07	0.539581	1	0
DCAF8L1	139425	broad.mit.edu	37	X	27999418	27999418	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:27999418G>C	ENST00000441525.1	-	1	148	c.34C>G	c.(34-36)Cca>Gca	p.P12A		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	12										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ACTAAGTCTGGTAAGCCACCT	0.547000													15	69					0	0	0.608945	0	0
OR4K1	79544	broad.mit.edu	37	14	20404240	20404240	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:20404240A>G	ENST00000285600.4	+	1	474	c.415A>G	c.(415-417)Agg>Ggg	p.R139G		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TATGAACCGGAGGCTCTGTGT	0.453000													26	123					0	0	0.729181	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409810	56409810	+	Silent	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:56409810A>G	ENST00000544374.1	-	1	137	c.109T>C	c.(109-111)Ttg>Ctg	p.L37L	OR5AP2_ENST00000302981.1_Silent_p.L36L			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AACAGAAACAATGCAAAGAGG	0.398000													54	84					0	0	0.870114	0	0
TG	7038	broad.mit.edu	37	8	134107322	134107322	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:134107322G>T	ENST00000220616.4	+	42	7314	c.7274G>T	c.(7273-7275)aGc>aTc	p.S2425I	TG_ENST00000519543.1_Missense_Mutation_p.S558I|SLA_ENST00000524345.1_Intron|SLA_ENST00000517648.1_Intron|SLA_ENST00000518565.1_Intron|TG_ENST00000542445.1_Missense_Mutation_p.S795I|SLA_ENST00000338087.5_Intron|SLA_ENST00000395352.3_Intron|TG_ENST00000377869.1_Missense_Mutation_p.S2368I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2425					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCCGTCATCAGCCATGAGAGG	0.602000													40	153					5.78141e-17	8.27602e-17	0.864702	1	0
SLC8A1	6546	broad.mit.edu	37	2	40342531	40342531	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:40342531C>A	ENST00000406785.1	-	8	2865	c.2676G>T	c.(2674-2676)cgG>cgT	p.R892R	SLC8A1_ENST00000542756.1_Silent_p.R923R|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.R892R|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.R920R|SLC8A1_ENST00000406391.2_Silent_p.R892R|SLC8A1_ENST00000405901.3_Silent_p.R923R|SLC8A1_ENST00000405269.1_Silent_p.R892R|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000403092.1_Silent_p.R928R|SLC8A1_ENST00000402441.1_Silent_p.R892R|SLC8A1_ENST00000332839.4_Silent_p.R928R|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	928					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTGGCCTCCGCCGATACAGCA	0.532000													15	61					8.00594e-06	8.794e-06	0.557998	1	0
MESP1	55897	broad.mit.edu	37	15	90294072	90294072	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr15:90294072G>A	ENST00000300057.4	-	1	469	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	MESP1_ENST00000559894.1_Intron	NM_018670.3	NP_061140.1	Q9BRJ9	MESP1_HUMAN	mesoderm posterior 1 homolog (mouse)	131	Helix-loop-helix motif.				cardiac atrium formation|cardiac cell fate determination|cardiac vascular smooth muscle cell differentiation|cardiac ventricle formation|cardioblast anterior-lateral migration|cardioblast migration to the midline involved in heart field formation|endothelial cell differentiation|gastrulation|growth involved in heart morphogenesis|heart looping|lateral mesoderm development|negative regulation of endodermal cell fate specification|negative regulation of mesodermal cell fate specification|negative regulation of transcription, DNA-dependent|neurogenesis|Notch signaling pathway|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|positive regulation of hepatocyte differentiation|positive regulation of Notch signaling pathway|positive regulation of striated muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|secondary heart field specification|sinoatrial node cell differentiation|sinus venosus morphogenesis		sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|kidney(1)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			CCGATATAGCGGATAGCCAGG	0.736000													14	3					0	0	0.557998	0	0
LY75	4065	broad.mit.edu	37	2	160735149	160735149	+	Silent	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:160735149A>G	ENST00000263636.4	-	10	1626	c.1599T>C	c.(1597-1599)acT>acC	p.T533T	LY75_ENST00000554112.1_Silent_p.T533T|LY75-CD302_ENST00000504764.1_Silent_p.T533T|LY75_ENST00000553424.1_Silent_p.T533T|LY75-CD302_ENST00000505052.1_Silent_p.T533T	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CACACCTGCTAGTGATAGTCA	0.393000													5	108					0	0	0.248553	0	0
CRISP3	10321	broad.mit.edu	37	6	49696491	49696491	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:49696491G>T	ENST00000433368.2	-	8	828	c.759C>A	c.(757-759)gtC>gtA	p.V253V	CRISP3_ENST00000393666.1_Silent_p.V230V|CRISP3_ENST00000263045.4_Silent_p.V243V|CRISP3_ENST00000423399.2_Silent_p.V140V|CRISP3_ENST00000371159.4_Silent_p.V261V	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	230					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AACTGTCCCTGACCAACTGAT	0.388000													32	114					1.57351e-24	2.58393e-24	0.788014	1	0
KLK5	25818	broad.mit.edu	37	19	51452266	51452266	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:51452266G>T	ENST00000336334.3	-	4	793	c.441C>A	c.(439-441)caC>caA	p.H147Q	KLK5_ENST00000391809.2_Missense_Mutation_p.H147Q|KLK5_ENST00000593428.1_Missense_Mutation_p.H147Q	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	147	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		AGTGGCCAGGGTGGGAGTAGC	0.527000													30	53					6.30617e-38	1.17731e-37	0.870114	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125671743	125671743	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:125671743C>T	ENST00000431078.1	+	24	4163	c.3799C>T	c.(3799-3801)Cag>Tag	p.Q1267*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1267					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCAGCACAAGCAGTCACATCG	0.458000													36	184					0	0	0.834066	0	0
ZNF367	195828	broad.mit.edu	37	9	99157136	99157136	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr9:99157136G>T	ENST00000375256.4	-	3	956	c.660C>A	c.(658-660)acC>acA	p.T220T		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	220					regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				GTTTCTCTCCGGTGTGAAGAC	0.403000													34	13					7.61165e-28	1.30904e-27	0.788014	1	0
ABCA13	154664	broad.mit.edu	37	7	48313048	48313048	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:48313048C>A	ENST00000435803.1	+	17	3809	c.3785C>A	c.(3784-3786)gCt>gAt	p.A1262D		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1262					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACCATGGAAGCTGCCCTGCAT	0.383000													10	13					1.61879e-10	1.9577e-10	0.411799	1	0
TIMP3	7078	broad.mit.edu	37	22	33245471	33245471	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr22:33245471G>T	ENST00000266085.6	+	2	455	c.154G>T	c.(154-156)Gta>Tta	p.V52L	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	52	NTR.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						GAAGAAGCTGGTAAAGGAGGG	0.537000													27	12					3.1745e-13	4.16202e-13	0.729181	1	0
HCN4	10021	broad.mit.edu	37	15	73615857	73615857	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr15:73615857G>C	ENST00000261917.3	-	8	3570	c.2577C>G	c.(2575-2577)atC>atG	p.I859M		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	859					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CCAGCTGTTGGATGTGGAAGG	0.682000													29	79					0	0	0.812448	0	0
RASGRF2	5924	broad.mit.edu	37	5	80419553	80419553	+	Missense_Mutation	SNP	A	A	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:80419553A>C	ENST00000265080.4	+	16	2630	c.2563A>C	c.(2563-2565)Act>Cct	p.T855P		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	855					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATCCCCCTCAACTCCTCGGCA	0.532000													14	56					0	0	0.557998	0	0
SMC2	10592	broad.mit.edu	37	9	106876317	106876317	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr9:106876317A>G	ENST00000286398.7	+	12	1775	c.1487A>G	c.(1486-1488)tAt>tGt	p.Y496C	SMC2_ENST00000374793.3_Missense_Mutation_p.Y496C|SMC2_ENST00000303219.8_Missense_Mutation_p.Y496C|SMC2_ENST00000374787.3_Missense_Mutation_p.Y496C	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	496					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AAAGAAACATATGAAGCTCTA	0.313000													90	45					0	0	0.870114	0	0
ZNF587	84914	broad.mit.edu	37	19	58361416	58361416	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:58361416G>T	ENST00000339656.5	+	1	192	c.10G>T	c.(10-12)Gct>Tct	p.A4S	CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000316462.4_Intron|ZNF814_ENST00000597652.1_5'UTR|ZNF587_ENST00000423137.1_Missense_Mutation_p.A4S	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GATGGCAGCGGCTGTGCCGAG	0.662000													31	33					4.17593e-13	5.43148e-13	0.834066	1	0
RAB20	55647	broad.mit.edu	37	13	111176505	111176505	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr13:111176505C>A	ENST00000267328.3	-	2	425	c.212G>T	c.(211-213)cGg>cTg	p.R71L		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	71					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			GGCCGCCCCCCGGCAGTACAT	0.607000													48	49					2.23044e-30	3.93937e-30	0.870114	1	0
DMD	1756	broad.mit.edu	37	X	32382813	32382813	+	Missense_Mutation	SNP	G	G	T	rs72468632		TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:32382813G>T	ENST00000357033.4	-	36	5246	c.5040C>A	c.(5038-5040)caC>caA	p.H1680Q	DMD_ENST00000378677.2_Missense_Mutation_p.H1676Q	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1680	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAGTTTCCATGTGTTTCTGGT	0.348000													23	82					3.73808e-20	5.69116e-20	0.693898	1	0
CFHR5	81494	broad.mit.edu	37	1	196963386	196963386	+	Splice_Site	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:196963386G>T	ENST00000367414.5	+	4	735	c.679_splice	c.e4+1	p.G227_splice	CFHR5_ENST00000256785.4_Splice_Site_p.G203_splice	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	203	Sushi 4.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AACATGCAAAGGTCAGTATTT	0.308000													81	63					6.15735e-50	1.22399e-49	0.870114	1	0
ASAH2	56624	broad.mit.edu	37	10	52003012	52003012	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:52003012C>A	ENST00000395526.3	-	3	459	c.460G>T	c.(460-462)Gtg>Ttg	p.V154L	ASAH2_ENST00000329428.6_Missense_Mutation_p.V135L|ASAH2_ENST00000447815.1_Missense_Mutation_p.V154L	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	154					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						CTGACAAACACTGTTCGATTG	0.478000													123	106					3.58661e-63	7.30716e-63	0.870114	1	0
FAM3B	54097	broad.mit.edu	37	21	42729094	42729094	+	Silent	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr21:42729094A>T	ENST00000398652.3	+	9	861	c.795A>T	c.(793-795)atA>atT	p.I265I	FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Silent_p.I249I|FAM3B_ENST00000398647.3_Silent_p.I178I|FAM3B_ENST00000357985.2_Silent_p.I226I			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	226					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				AGATCCAGATAGAAGGCTGCA	0.398000													101	111					0	0	0.870114	0	0
DFNA5	1687	broad.mit.edu	37	7	24784260	24784260	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:24784260C>T	ENST00000342947.3	-	3	750	c.325G>A	c.(325-327)Gta>Ata	p.V109I	DFNA5_ENST00000409775.3_Missense_Mutation_p.V109I|DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000545231.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	109					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TGGCTCTCTACGCGGCTGCTG	0.547000													29	92					0	0	0.717897	0	0
ECEL1	9427	broad.mit.edu	37	2	233348873	233348873	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:233348873C>A	ENST00000304546.1	-	7	1455	c.1245G>T	c.(1243-1245)ccG>ccT	p.P415P	ECEL1_ENST00000409941.1_Silent_p.P415P	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	415					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CACGGAATGGCGGGGACAGGT	0.647000													14	28					2.32078e-09	2.74249e-09	0.479597	1	0
NLGN1	22871	broad.mit.edu	37	3	173997119	173997119	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:173997119G>A	ENST00000457714.1	+	6	1757	c.1328G>A	c.(1327-1329)tGg>tAg	p.W443*	NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Nonsense_Mutation_p.W483*|NLGN1_ENST00000361589.4_Nonsense_Mutation_p.W443*|NLGN1_ENST00000545397.1_Nonsense_Mutation_p.W443*	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	460					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TATACTGACTGGGCTGACCGT	0.413000													41	31					0	0	0.870114	0	0
SHROOM2	357	broad.mit.edu	37	X	9863530	9863530	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:9863530G>T	ENST00000380913.3	+	4	1672	c.1582G>T	c.(1582-1584)Gat>Tat	p.D528Y		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	528					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGGTCCTCCGGATGCCCGCGA	0.682000													9	8					0.010729	0.0109521	0.387290	1	0
MGAT5	4249	broad.mit.edu	37	2	135170566	135170566	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:135170566G>T	ENST00000409645.1	+	13	1909	c.1657G>T	c.(1657-1659)Ggc>Tgc	p.G553C	MGAT5_ENST00000281923.2_Missense_Mutation_p.G553C			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	553					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CTTTTTCATTGGCAAGCCAAC	0.398000													41	33					6.3008e-33	1.13739e-32	0.870114	1	0
JAM2	58494	broad.mit.edu	37	21	27066140	27066140	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr21:27066140G>A	ENST00000480456.1	+	4	864	c.314G>A	c.(313-315)gGg>gAg	p.G105E	JAM2_ENST00000400532.1_Missense_Mutation_p.G105E|JAM2_ENST00000425221.2_Missense_Mutation_p.G69E|JAM2_ENST00000312957.5_Missense_Mutation_p.G105E	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	105	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGTGATGCGGGGAAATATCGT	0.393000													41	112					0	0	0.870114	0	0
STAB2	55576	broad.mit.edu	37	12	104144428	104144428	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:104144428C>A	ENST00000388887.2	+	60	6714	c.6510C>A	c.(6508-6510)ccC>ccA	p.P2170P	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2170					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGCAGCTGCCCATTGACCGCT	0.552000													18	35					0.00074312	0.00077715	0.539581	1	0
ZNF676	163223	broad.mit.edu	37	19	22363839	22363839	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:22363839C>A	ENST00000397121.2	-	3	997	c.680G>T	c.(679-681)tGt>tTt	p.C227F		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACATTCTTCACATTTGTAGGG	0.358000													25	28					9.39395e-14	1.24829e-13	0.706142	1	0
KRT2	3849	broad.mit.edu	37	12	53045523	53045523	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:53045523A>T	ENST00000309680.3	-	1	425	c.404T>A	c.(403-405)tTa>tAa	p.L135*		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	135	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		AGGACCCCCTAAacctccaac	0.602000													11	30					0	0	0.435327	0	0
NASP	4678	broad.mit.edu	37	1	46073451	46073451	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:46073451G>T	ENST00000350030.3	+	6	955	c.868G>T	c.(868-870)Ggc>Tgc	p.G290C	NASP_ENST00000351223.3_Intron|NASP_ENST00000372052.4_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.G292C|NASP_ENST00000537798.1_Missense_Mutation_p.G226C	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	290	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGAAAAGCAGGGCACTGCAGT	0.507000													26	14					6.32553e-13	8.1518e-13	0.681144	1	0
POTEF	728378	broad.mit.edu	37	2	130877930	130877930	+	Silent	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:130877930A>T	ENST00000357462.5	-	1	252	c.159T>A	c.(157-159)gcT>gcA	p.A53A	POTEF_ENST00000409914.2_Silent_p.A53A|POTEF_ENST00000360967.5_Silent_p.A53A|POTEF_ENST00000361163.4_Silent_p.A53A			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	53						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GTGTCTTCATAGCAGAGTCGT	0.617000													80	323					0	0	0.870114	0	0
TNN	63923	broad.mit.edu	37	1	175066810	175066810	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:175066810G>T	ENST00000239462.4	+	8	1959	c.1846G>T	c.(1846-1848)Gcc>Tcc	p.A616S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	616	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGACACCAACGCCCCGACAGG	0.517000													61	73					1.17597e-53	2.36156e-53	0.870114	1	0
SMARCA4	6597	broad.mit.edu	37	19	11106926	11106926	+	Missense_Mutation	SNP	A	A	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:11106926A>C	ENST00000358026.2	+	10	1915	c.1631A>C	c.(1630-1632)cAg>cCg	p.Q544P	SMARCA4_ENST00000541122.2_Missense_Mutation_p.Q544P|SMARCA4_ENST00000589677.1_Missense_Mutation_p.Q544P|SMARCA4_ENST00000450717.3_Missense_Mutation_p.Q544P|SMARCA4_ENST00000444061.3_Missense_Mutation_p.Q544P|SMARCA4_ENST00000429416.3_Missense_Mutation_p.Q544P|SMARCA4_ENST00000590574.1_Missense_Mutation_p.Q544P|SMARCA4_ENST00000344626.4_Missense_Mutation_p.Q544P|SMARCA4_ENST00000413806.3_Missense_Mutation_p.Q544P	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	544					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCATCGACCAGAAGAAGGAC	0.582000			"""F, N, Mis"""		NSCLC								33	95					0	0	0.804634	0	0
GRID2	2895	broad.mit.edu	37	4	94006216	94006216	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:94006216C>A	ENST00000282020.4	+	3	573	c.315C>A	c.(313-315)ctC>ctA	p.L105L	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	105					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CAGGATCCCTCCAGTCTTTGG	0.537000													42	44					8.04919e-23	1.28525e-22	0.870114	1	0
SPATS2	65244	broad.mit.edu	37	12	49890777	49890777	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:49890777A>T	ENST00000553127.1	+	9	1201	c.688A>T	c.(688-690)Acc>Tcc	p.T230S	SPATS2_ENST00000552557.1_3'UTR|SPATS2_ENST00000321898.6_Missense_Mutation_p.T230S|SPATS2_ENST00000552918.1_Missense_Mutation_p.T230S			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	230						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						TCCCCTCGCCACCAGTAAAAA	0.418000													21	55					0	0	0.608945	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182026	57182026	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:57182026C>A	ENST00000504228.1	+	6	2463	c.2358C>A	c.(2356-2358)acC>acA	p.T786T	KIAA1211_ENST00000541073.1_Silent_p.T779T|KIAA1211_ENST00000264229.6_Silent_p.T786T			Q6ZU35	K1211_HUMAN	KIAA1211	786										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAGACACCACCGAGGGATGCA	0.617000													17	73					5.26018e-13	6.80566e-13	0.608945	1	0
GABRG2	2566	broad.mit.edu	37	5	161580172	161580172	+	Missense_Mutation	SNP	A	A	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:161580172A>C	ENST00000356592.3	+	10	1686	c.1226A>C	c.(1225-1227)gAt>gCt	p.D409A	GABRG2_ENST00000361925.4_Missense_Mutation_p.D401A|GABRG2_ENST00000414552.2_Missense_Mutation_p.D449A|GABRG2_ENST00000393933.4_Missense_Mutation_p.D306A	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	401					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CAAGAGAGAGATGAAGAGTAC	0.493000													17	45					0	0	0.539581	0	0
ARPP21	10777	broad.mit.edu	37	3	35780974	35780974	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:35780974G>A	ENST00000187397.4	+	17	2266	c.1810G>A	c.(1810-1812)Gga>Aga	p.G604R	ARPP21_ENST00000444190.1_Missense_Mutation_p.G585R|ARPP21_ENST00000458225.1_Missense_Mutation_p.G605R|ARPP21_ENST00000337271.5_Missense_Mutation_p.G585R|ARPP21_ENST00000417925.1_Missense_Mutation_p.G605R	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	604	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCTTCCTACAGGAGGATTCTC	0.617000													14	21					0	0	0.500413	0	0
USH2A	7399	broad.mit.edu	37	1	216062018	216062018	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:216062018G>T	ENST00000366943.2	-	41	8359	c.7973C>A	c.(7972-7974)aCa>aAa	p.T2658K	USH2A_ENST00000307340.3_Missense_Mutation_p.T2658K|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2658	Fibronectin type-III 13.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTCTCAATTGTGAAATTCTC	0.468000										HNSCC(13;0.011)			24	106					5.60225e-13	7.2387e-13	0.740014	1	0
USH2A	7399	broad.mit.edu	37	1	216251555	216251555	+	Silent	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:216251555C>G	ENST00000366943.2	-	27	5834	c.5448G>C	c.(5446-5448)gtG>gtC	p.V1816V	RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Silent_p.V1816V|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1816	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCAGTCCATTCACACTTGCTG	0.443000										HNSCC(13;0.011)			51	248					0	0	0.870114	0	0
BDH1	622	broad.mit.edu	37	3	197239157	197239157	+	Missense_Mutation	SNP	C	C	A	rs144830970	byFrequency	TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:197239157C>A	ENST00000392379.1	-	8	1042	c.641G>T	c.(640-642)gGg>gTg	p.G214V	BDH1_ENST00000392378.2_Missense_Mutation_p.G214V|BDH1_ENST00000358186.2_Missense_Mutation_p.G214V|BDH1_ENST00000441275.1_Missense_Mutation_p.G127V	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	214					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	AGCCTCTACCCCGAACTTGGT	0.627000													42	20					2.43468e-25	4.0318e-25	0.870114	1	0
TCL1B	9623	broad.mit.edu	37	14	96152926	96152926	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:96152926C>T	ENST00000340722.7	+	1	173	c.122C>T	c.(121-123)cCc>cTc	p.P41L	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	41										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CGGTTCAATCCCTCGCGTAGG	0.667000													9	29					0	0	0.435327	0	0
INHBE	83729	broad.mit.edu	37	12	57849326	57849326	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:57849326C>A	ENST00000266646.2	+	1	223	c.7C>A	c.(7-9)Ctc>Atc	p.L3I	INHBE_ENST00000551553.1_Intron	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	3					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						GAGCATGCGGCTCCCTGATGT	0.627000													18	53					4.96729e-08	5.7118e-08	0.575678	1	0
ATP8B4	79895	broad.mit.edu	37	15	50158585	50158585	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr15:50158585T>A	ENST00000284509.6	-	26	3265	c.3124A>T	c.(3124-3126)Aat>Tat	p.N1042Y	ATP8B4_ENST00000559829.1_Missense_Mutation_p.N1042Y	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1042					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AAGATGCCATTACTGTGCATT	0.403000													43	33					0	0	0.870114	0	0
MYO7A	4647	broad.mit.edu	37	11	76872055	76872055	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:76872055A>T	ENST00000409709.3	+	12	1509	c.1237A>T	c.(1237-1239)Aag>Tag	p.K413*	MYO7A_ENST00000458637.2_Nonsense_Mutation_p.K413*|MYO7A_ENST00000409893.1_Nonsense_Mutation_p.K413*|MYO7A_ENST00000409619.2_Nonsense_Mutation_p.K402*	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	413	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GATTGTGGACAAGATCAACGC	0.582000													8	17					0	0	0.307466	0	0
SMOC1	64093	broad.mit.edu	37	14	70480182	70480182	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:70480182C>A	ENST00000381280.4	+	10	1273	c.1020C>A	c.(1018-1020)aaC>aaA	p.N340K	SMOC1_ENST00000361956.3_Missense_Mutation_p.N340K	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	340					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AGGCCATTAACTCAGCAGCGC	0.498000											OREG0022771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	70					5.44703e-19	8.09226e-19	0.847076	1	0
SLC30A10	55532	broad.mit.edu	37	1	220089204	220089204	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:220089204G>T	ENST00000366926.3	-	4	1206	c.1045C>A	c.(1045-1047)Ctg>Atg	p.L349M	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.L104M	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	349					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TTGATGTGCAGGGTGGCAATA	0.443000													109	69					6.44133e-54	1.29619e-53	0.870114	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19732104	19732104	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr21:19732104C>A	ENST00000284885.3	-	8	883	c.850G>T	c.(850-852)Gaa>Taa	p.E284*		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	284	CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CCTACACCTTCATAAATATCT	0.264000													15	63					3.45872e-05	3.74472e-05	0.500413	1	0
GRAMD1B	57476	broad.mit.edu	37	11	123476161	123476161	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:123476161C>A	ENST00000529750.1	+	9	1196	c.869C>A	c.(868-870)aCa>aAa	p.T290K	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.T290K|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.T297K	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	290						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CTAACATCCACAGGGAGCAGT	0.552000													78	179					1.17342e-72	2.44131e-72	0.870114	1	0
ABCB5	340273	broad.mit.edu	37	7	20795083	20795083	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:20795083G>T	ENST00000404938.2	+	28	4262	c.3610G>T	c.(3610-3612)Gga>Tga	p.G1204*	ABCB5_ENST00000258738.6_Nonsense_Mutation_p.G759*	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	759					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGCCAGGACGGGAAGGACATG	0.443000													26	65					1.30897e-18	1.93586e-18	0.740014	1	0
KCNV1	27012	broad.mit.edu	37	8	110984898	110984898	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:110984898G>T	ENST00000524391.1	-	3	1612	c.580C>A	c.(580-582)Cag>Aag	p.Q194K	KCNV1_ENST00000297404.1_Missense_Mutation_p.Q194K			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	194						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CAGAGCTTCTGGCGAACAGTG	0.478000													6	56					0.0215528	0.0218645	0.217242	1	0
PCDHB3	56132	broad.mit.edu	37	5	140482345	140482345	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:140482345G>T	ENST00000231130.2	+	1	2112	c.2112G>T	c.(2110-2112)tcG>tcT	p.S704S		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		704					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTCTTTTCGGTGCTCCTGT	0.692000													57	127					7.46257e-40	1.41745e-39	0.870114	1	0
RABL2A	11159	broad.mit.edu	37	2	114392672	114392672	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:114392672G>T	ENST00000409875.1	+	6	564	c.262G>T	c.(262-264)Gcc>Tcc	p.A88S	RABL2A_ENST00000393166.3_Missense_Mutation_p.A88S|RABL2A_ENST00000393165.3_Missense_Mutation_p.A88S|RABL2A_ENST00000393167.3_Missense_Mutation_p.A88S|RABL2A_ENST00000409842.1_Intron|RABL2A_ENST00000376439.3_Intron			Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	88					small GTPase mediated signal transduction		GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						GAGCATGCATGCCTCCTACTA	0.577000													38	107					5.7616e-29	1.00317e-28	0.870114	1	0
FAM188B	84182	broad.mit.edu	37	7	30890076	30890076	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:30890076G>A	ENST00000265299.6	+	10	1529	c.1452G>A	c.(1450-1452)ctG>ctA	p.L484L	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	484										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCAGGGGACTGCAGCCTTCAG	0.602000													4	24					0	0	0.217242	0	0
GRIA3	2892	broad.mit.edu	37	X	122387162	122387162	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:122387162C>A	ENST00000264357.5	+	3	569	c.277C>A	c.(277-279)Cag>Aag	p.Q93K	GRIA3_ENST00000371251.1_Missense_Mutation_p.Q93K|GRIA3_ENST00000371256.5_Missense_Mutation_p.Q93K|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000542149.1_Missense_Mutation_p.Q93K|GRIA3_ENST00000541091.1_Missense_Mutation_p.Q77K	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	93					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AGTCTGCTCCCAGTTCTCGAG	0.458000													30	142					1.17962e-10	1.43188e-10	0.840704	1	0
EBF3	253738	broad.mit.edu	37	10	131671816	131671816	+	Silent	SNP	G	G	T	rs150383257		TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:131671816G>T	ENST00000368648.3	-	8	753	c.681C>A	c.(679-681)gcC>gcA	p.A227A	EBF3_ENST00000355311.5_Silent_p.A227A	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	227					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.A227A(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGTCTGACACGGCCAGCACGT	0.522000													15	43					1.62849e-17	2.3552e-17	0.500413	1	0
PRUNE2	158471	broad.mit.edu	37	9	79325372	79325372	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr9:79325372C>T	ENST00000428286.1	-	8	1941	c.741G>A	c.(739-741)aaG>aaA	p.K247K	PRUNE2_ENST00000376718.3_Silent_p.K606K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	606					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTGGGATCCTCTTTCCAGTAT	0.438000													13	20					0	0	0.520397	0	0
POTEH	23784	broad.mit.edu	37	22	16287776	16287776	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr22:16287776C>T	ENST00000343518.6	-	1	161	c.110G>A	c.(109-111)gGg>gAg	p.G37E		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	37										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTTGCCGCTCCCCCTGCACCA	0.592000													11	755					0	0	0.779181	0	0
COL11A1	1301	broad.mit.edu	37	1	103544317	103544317	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:103544317C>A	ENST00000358392.2	-	3	702	c.385G>T	c.(385-387)Gtt>Ttt	p.V129F	COL11A1_ENST00000512756.1_Missense_Mutation_p.V129F|COL11A1_ENST00000353414.4_Missense_Mutation_p.V129F|COL11A1_ENST00000370096.3_Missense_Mutation_p.V129F	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	129	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCAACCTCAACACCAATTTGC	0.393000													36	54					1.47197e-15	2.04452e-15	0.834066	1	0
C16orf71	146562	broad.mit.edu	37	16	4787847	4787847	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:4787847C>T	ENST00000299320.5	+	3	654	c.176C>T	c.(175-177)aCc>aTc	p.T59I	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.T59I	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	59										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CGAAACCAAACCTCCCTGATT	0.587000													28	47					0	0	0.750413	0	0
CCDC54	84692	broad.mit.edu	37	3	107096825	107096825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:107096825G>T	ENST00000261058.1	+	1	638	c.391G>T	c.(391-393)Gaa>Taa	p.E131*		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	131										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CTCTATGAAAGAAGACATCAA	0.398000													12	26					0.00010058	0.000107358	0.411799	1	0
IGSF1	3547	broad.mit.edu	37	X	130411034	130411034	+	Silent	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:130411034G>C	ENST00000370904.1	-	20	3370	c.2460C>G	c.(2458-2460)gcC>gcG	p.A820A	IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000361420.3_Silent_p.A829A|IGSF1_ENST00000370903.3_Silent_p.A834A|IGSF1_ENST00000370910.1_Silent_p.A820A			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	829	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GAGCTGCACTGGCCCCCGGAC	0.493000													134	543					0	0	0.870114	0	0
SRGAP3	9901	broad.mit.edu	37	3	9027361	9027361	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:9027361C>A	ENST00000383836.3	-	22	3569	c.3142G>T	c.(3142-3144)Gct>Tct	p.A1048S	SRGAP3_ENST00000360413.3_Missense_Mutation_p.A1024S	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	1048					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TGGGCGCCAGCCAGGCGGGCG	0.741000			T	RAF1	pilocytic astrocytoma								11	3					7.01153e-11	8.54259e-11	0.717897	1	0
RAB11FIP4	84440	broad.mit.edu	37	17	29857402	29857402	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:29857402G>T	ENST00000325874.8	+	14	1941	c.1712G>T	c.(1711-1713)aGc>aTc	p.S571I	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.S469I	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	571	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TTGAGCCTCAGCCTCTACGAA	0.537000													63	32					3.13743e-37	5.82411e-37	0.870114	1	0
RXFP3	51289	broad.mit.edu	37	5	33937926	33937926	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:33937926C>A	ENST00000330120.3	+	1	1436	c.1081C>A	c.(1081-1083)Cag>Aag	p.Q361K		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	361						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GCCCTTCAGCCAGGAGTATTT	0.597000													63	140					5.89852e-23	9.46461e-23	0.870114	1	0
SAA2	6289	broad.mit.edu	37	11	18267479	18267479	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:18267479C>A	ENST00000414546.2	-	3	252	c.208G>T	c.(208-210)Gcc>Tcc	p.A70S	SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000529528.1_Missense_Mutation_p.A70S|SAA2_ENST00000526900.1_Missense_Mutation_p.A70S|SAA2_ENST00000528349.1_Missense_Mutation_p.A70S|SAA2_ENST00000530400.1_Missense_Mutation_p.A70S|SAA2_ENST00000256733.4_Missense_Mutation_p.A70S	NM_001127380.2	NP_001120852.1			serum amyloid A2											central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						GCAGCCCAGGCACCCCCAGGT	0.567000													15	33					6.21321e-17	8.86828e-17	0.639603	1	0
DSP	1832	broad.mit.edu	37	6	7565606	7565606	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:7565606G>T	ENST00000379802.3	+	7	1133	c.792G>T	c.(790-792)gaG>gaT	p.E264D	DSP_ENST00000418664.2_Missense_Mutation_p.E264D	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	264	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CGTCCTTTGAGAGGATGGATC	0.488000													57	103					1.62914e-18	2.40213e-18	0.870114	1	0
CRTAM	56253	broad.mit.edu	37	11	122738751	122738751	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:122738751G>A	ENST00000227348.4	+	9	1042	c.995G>A	c.(994-996)aGt>aAt	p.S332N	CRTAM_ENST00000533709.1_Missense_Mutation_p.S133N	NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	332					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		ACACTAGAAAGTTACAGATCA	0.328000													21	36					0	0	0.624587	0	0
OBSL1	23363	broad.mit.edu	37	2	220419218	220419218	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:220419218G>A	ENST00000404537.1	-	15	4910	c.4854C>T	c.(4852-4854)tgC>tgT	p.C1618C	OBSL1_ENST00000265318.4_3'UTR|OBSL1_ENST00000373876.1_Silent_p.C1526C	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1618					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GTCTGGCTGCGCAGCGCAGGG	0.622000													20	36					0	0	0.654019	0	0
RP1L1	94137	broad.mit.edu	37	8	10470478	10470478	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:10470478G>C	ENST00000382483.3	-	4	1353	c.1130C>G	c.(1129-1131)tCa>tGa	p.S377*		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	377					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCAGGCTCTGAGAAGCCCCA	0.672000													24	33					0	0	0.750413	0	0
VPS36	51028	broad.mit.edu	37	13	53008927	53008927	+	Splice_Site	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr13:53008927C>A	ENST00000378060.4	-	5	469		c.e5+1			NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)						cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		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;3.14e-08)		TTTAAAAATACCTGGGGTCCT	0.353000													37	84					8.04919e-23	1.28525e-22	0.870114	1	0
PKD1	5310	broad.mit.edu	37	16	2161848	2161848	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:2161848G>A	ENST00000262304.4	-	15	3528	c.3320C>T	c.(3319-3321)gCa>gTa	p.A1107V	PKD1_ENST00000423118.1_Missense_Mutation_p.A1107V	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1107	PKD 5.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGCATTAGATGCCAGCACGGT	0.706000													13	25					0	0	0.500413	0	0
CDH23	64072	broad.mit.edu	37	10	73326639	73326639	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:73326639C>A	ENST00000224721.6	+	6	590	c.585C>A	c.(583-585)atC>atA	p.I195I	CDH23_ENST00000398809.4_Silent_p.I190I|CDH23_ENST00000398842.3_Silent_p.I190I|CDH23_ENST00000461841.3_Silent_p.I235I|CDH23_ENST00000299366.7_Silent_p.I235I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	190	Cadherin 2.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCACAGTGATCCGGGAGCTGG	0.657000													27	93					1.836e-18	2.70308e-18	0.788014	1	0
ZNF713	349075	broad.mit.edu	37	7	56006807	56006807	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:56006807G>T	ENST00000429591.2	+	4	439	c.401G>T	c.(400-402)tGg>tTg	p.W134L	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGAGGACTCTGGGATTTTGAT	0.418000													31	36					7.11191e-15	9.67298e-15	0.769981	1	0
KIF5A	3798	broad.mit.edu	37	12	57957263	57957263	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:57957263G>A	ENST00000455537.2	+	2	445	c.171G>A	c.(169-171)acG>acA	p.T57T	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	57	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCCCAAACACGACTCAAGAGC	0.418000													15	65					0	0	0.539581	0	0
SNAPC3	6619	broad.mit.edu	37	9	15423971	15423971	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr9:15423971C>A	ENST00000380821.3	+	2	555	c.379C>A	c.(379-381)Ctg>Atg	p.L127M	SNAPC3_ENST00000461041.1_3'UTR	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	127					regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		GAATACTGACCTGGTGACTTT	0.363000													32	35					1.96642e-18	2.88643e-18	0.827153	1	0
RYR2	6262	broad.mit.edu	37	1	237947774	237947774	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:237947774C>A	ENST00000366574.2	+	90	13079	c.12762C>A	c.(12760-12762)acC>acA	p.T4254T	RYR2_ENST00000360064.6_Silent_p.T4260T|RYR2_ENST00000542537.1_Silent_p.T4238T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4254					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATATCTTGACCCTTATGCGAA	0.507000													10	7					3.86212e-05	4.14945e-05	0.361761	1	0
DCUN1D4	23142	broad.mit.edu	37	4	52752797	52752797	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:52752797C>T	ENST00000334635.5	+	6	587	c.407C>T	c.(406-408)cCa>cTa	p.P136L	DCUN1D4_ENST00000381441.3_Missense_Mutation_p.P136L|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.P180L|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.P76L	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	136	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			GGTGTTGAACCAGAAAACGTG	0.328000													76	35					0	0	0.870114	0	0
KCNF1	3754	broad.mit.edu	37	2	11053758	11053758	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:11053758C>A	ENST00000295082.1	+	1	1696	c.1206C>A	c.(1204-1206)atC>atA	p.I402I		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	402						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCCTGCCCATCCACCCCATCA	0.597000													26	31					3.69281e-35	6.76556e-35	0.760397	1	0
MYOCD	93649	broad.mit.edu	37	17	12639542	12639542	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:12639542T>A	ENST00000425538.1	+	6	680	c.480T>A	c.(478-480)gaT>gaA	p.D160E	MYOCD_ENST00000395988.1_Missense_Mutation_p.D64E|MYOCD_ENST00000343344.4_Missense_Mutation_p.D160E	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	160	HDAC5-binding (By similarity).				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCAGCAGCGATGGGCTTTCTC	0.547000													85	172					0	0	0.870114	0	0
CD34	947	broad.mit.edu	37	1	208062810	208062810	+	Splice_Site	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:208062810C>A	ENST00000356522.4	-	5	1075	c.754_splice	c.e5+1	p.E252_splice	CD34_ENST00000485761.1_5'UTR|CD34_ENST00000310833.7_Splice_Site_p.E252_splice|CD34_ENST00000537704.1_Splice_Site_p.E117_splice|CD34_ENST00000367036.3_Splice_Site_p.E94_splice	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	252					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						TGCACCTTACCTGTTCTGTTG	0.587000													24	19					2.80507e-11	3.46053e-11	0.760397	1	0
OR14K1	343170	broad.mit.edu	37	1	247902502	247902502	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:247902502G>T	ENST00000283225.2	+	1	586	c.586G>T	c.(586-588)Gtc>Ttc	p.V196F	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						CATCATTAGTGTCAGTGTGGC	0.408000													59	270					1.20869e-33	2.18588e-33	0.870114	1	0
UNCX	340260	broad.mit.edu	37	7	1273195	1273195	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:1273195G>C	ENST00000316333.8	+	2	425	c.314G>C	c.(313-315)cGg>cCg	p.R105P		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	105					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGCTGCAAGCGGCGGCGCACC	0.711000													11	31					0	0	0.435327	0	0
KIAA1210	57481	broad.mit.edu	37	X	118222746	118222746	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:118222746G>T	ENST00000402510.2	-	11	2446	c.2447C>A	c.(2446-2448)tCa>tAa	p.S816*		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	816										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTTGATTCTGAGAAGACTTC	0.488000													9	23					5.4927e-09	6.42889e-09	0.307466	1	0
F9	2158	broad.mit.edu	37	X	138643681	138643681	+	Splice_Site	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:138643681A>T	ENST00000218099.2	+	8	845		c.e8-1		F9_ENST00000394090.2_Splice_Site	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX						blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TATTTTTAATAGGTGAACATA	0.328000													40	41					0	0	0.870114	0	0
MYLK	4638	broad.mit.edu	37	3	123418942	123418942	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:123418942G>T	ENST00000360772.3	-	19	3751	c.3373C>A	c.(3373-3375)Ccc>Acc	p.P1125T	MYLK_ENST00000346322.5_Missense_Mutation_p.P1056T|MYLK_ENST00000359169.1_Missense_Mutation_p.P1125T|MYLK_ENST00000360304.3_Missense_Mutation_p.P1125T|MYLK_ENST00000475616.1_Missense_Mutation_p.P1125T			Q15746	MYLK_HUMAN	myosin light chain kinase	1125	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 7.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTGGCTGGGGGGTCAGAAGAC	0.567000													22	62					1.36565e-18	2.01664e-18	0.639603	1	0
HNRNPD	3184	broad.mit.edu	37	4	83276523	83276523	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:83276523C>A	ENST00000313899.7	-	8	1309	c.1032G>T	c.(1030-1032)agG>agT	p.R344S	HNRNPD_ENST00000541060.1_Missense_Mutation_p.R190S|HNRNPD_ENST00000543098.1_Missense_Mutation_p.R292S|HNRNPD_ENST00000352301.4_Missense_Mutation_p.R325S|HNRNPD_ENST00000353341.4_Missense_Mutation_p.R295S|HNRNPD_ENST00000508119.1_5'UTR	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	344	Gly-rich.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						GACCACCTCGCCTGGATACCT	0.348000													15	83					2.70639e-06	2.9828e-06	0.624587	1	0
FLG2	388698	broad.mit.edu	37	1	152328646	152328646	+	Missense_Mutation	SNP	C	C	A	rs146826451	by1000genomes	TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:152328646C>A	ENST00000388718.5	-	3	1688	c.1616G>T	c.(1615-1617)cGt>cTt	p.R539L	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	539	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTAGACTGACGTGATCTAGA	0.493000													326	343					3.07754e-139	6.51325e-139	0.870114	1	0
TRBV11-2	28581	broad.mit.edu	37	7	142197981	142197981	+	RNA	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:142197981C>T	ENST00000471935.1	-	0	88																											AGACAGAGGGCCGCCTAGCAG	0.517000													46	70					0	0	0.870114	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810332	106810332	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:106810332T>C	ENST00000526355.1	-	4	1528	c.1060A>G	c.(1060-1062)Act>Gct	p.T354A	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.T354A|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.T354A	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	354					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		ACTTTGTGAGTGTCACATCGA	0.488000													34	52					0	0	0.812448	0	0
CPS1	1373	broad.mit.edu	37	2	211455590	211455590	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:211455590G>T	ENST00000233072.5	+	9	1103	c.907G>T	c.(907-909)Gct>Tct	p.A303S	CPS1_ENST00000430249.2_Missense_Mutation_p.A309S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	303	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.A303P(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AACAGGATTGGCTGCTGGTGC	0.383000													19	40					3.83957e-06	4.22697e-06	0.639603	1	0
MNDA	4332	broad.mit.edu	37	1	158813837	158813837	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:158813837C>G	ENST00000368141.4	+	4	756	c.495C>G	c.(493-495)agC>agG	p.S165R		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	165					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CAGGAGCCAGCACATCTGCAG	0.493000													134	273					0	0	0.870114	0	0
JAG2	3714	broad.mit.edu	37	14	105615590	105615590	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:105615590T>C	ENST00000331782.3	-	13	2073	c.1670A>G	c.(1669-1671)gAc>gGc	p.D557G	JAG2_ENST00000347004.2_Missense_Mutation_p.D519G	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	557	EGF-like 9.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GCAGTAATAGTCACCCTCCAG	0.657000													143	131					0	0	0.870114	0	0
UBD	10537	broad.mit.edu	37	6	29523856	29523856	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:29523856T>A	ENST00000377050.4	-	2	522	c.299A>T	c.(298-300)aAg>aTg	p.K100M	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	100	Ubiquitin 2.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GAGGTGCCTCTTTGCCTCATC	0.517000													16	47					0	0	0.608945	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													5	79					0	0	0.248553	0	0
LEPR	3953	broad.mit.edu	37	1	66075766	66075766	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:66075766A>T	ENST00000349533.6	+	13	2074	c.1889A>T	c.(1888-1890)tAc>tTc	p.Y630F	LEPR_ENST00000371058.1_Missense_Mutation_p.Y630F|LEPR_ENST00000371059.3_Missense_Mutation_p.Y630F|LEPR_ENST00000371060.3_Missense_Mutation_p.Y630F|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Missense_Mutation_p.Y630F|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	630	Fibronectin type-III 2.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AATCCAGCCTACACAGTTGTC	0.418000													51	92					0	0	0.870114	0	0
FAM155B	27112	broad.mit.edu	37	X	68725734	68725734	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:68725734G>T	ENST00000252338.4	+	1	651	c.609G>T	c.(607-609)acG>acT	p.T203T		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	203						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						ACACCTACACGGTCTGGGACT	0.627000													32	75					9.73076e-26	1.6251e-25	0.827153	1	0
MME	4311	broad.mit.edu	37	3	154862150	154862150	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:154862150C>T	ENST00000460393.1	+	14	1440	c.1320C>T	c.(1318-1320)gtC>gtT	p.V440V	MME_ENST00000360490.2_Silent_p.V440V|MME_ENST00000492661.1_Silent_p.V440V|MME_ENST00000493237.1_Silent_p.V440V|MME_ENST00000462745.1_Silent_p.V440V	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	440					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.V440V(2)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GATTTGAGGTCGAGGATTTGA	0.343000													13	36					0	0	0.500413	0	0
GPR158	57512	broad.mit.edu	37	10	25887654	25887654	+	Silent	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:25887654T>A	ENST00000376351.3	+	11	3458	c.3099T>A	c.(3097-3099)gcT>gcA	p.A1033A	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1033						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTATTGTGGCTTCTGAAATGG	0.458000													19	77					0	0	0.624587	0	0
RGS21	431704	broad.mit.edu	37	1	192335243	192335243	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:192335243C>A	ENST00000417209.2	+	5	622	c.448C>A	c.(448-450)Cct>Act	p.P150T		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	150					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						AAAATGGCTCCCTTTTTTGTG	0.328000													30	16					7.11191e-15	9.67298e-15	0.769981	1	0
EDNRB	1910	broad.mit.edu	37	13	78474775	78474775	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr13:78474775G>T	ENST00000377211.4	-	6	1388	c.1236C>A	c.(1234-1236)gcC>gcA	p.A412A	EDNRB_ENST00000334286.5_Silent_p.A322A|EDNRB_ENST00000446573.1_Silent_p.A322A	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	322					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	AGACGGTTTTGGCCACTTCCC	0.418000													12	46					2.61681e-11	3.23234e-11	0.457914	1	0
ZNF630	57232	broad.mit.edu	37	X	47918087	47918087	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:47918087C>A	ENST00000276054.4	-	5	2306	c.1372G>T	c.(1372-1374)Gga>Tga	p.G458*	ZNF630_ENST00000442455.3_Nonsense_Mutation_p.G568*|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000409324.3_Nonsense_Mutation_p.G582*			Q2M218	ZN630_HUMAN	zinc finger protein 630	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						GGAGACTTTCCACAGAAGGCC	0.433000													4	38					0.00909568	0.00929444	0.150653	1	0
IGLV2-18	28814	broad.mit.edu	37	22	23077547	23077547	+	RNA	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr22:23077547C>G	ENST00000390310.2	+	0	337																											CTGATTATTACTGCAGCTTAT	0.587000													129	87					0	0	0.870114	0	0
KIRREL3	84623	broad.mit.edu	37	11	126396518	126396518	+	Silent	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:126396518C>G	ENST00000525144.2	-	3	447	c.198G>C	c.(196-198)acG>acC	p.T66T	KIRREL3_ENST00000525704.2_Silent_p.T66T|KIRREL3_ENST00000529097.2_Silent_p.T66T	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	66	Ig-like C2-type 1.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CGCAAAGTAGCGTCACTGGCT	0.572000													4	23					0	0	0.217242	0	0
OR14J1	442191	broad.mit.edu	37	6	29275388	29275388	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:29275388C>A	ENST00000377160.2	+	1	986	c.922C>A	c.(922-924)Ctt>Att	p.L308I		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						AAAGGAAGAGCTTCCTCAGAG	0.383000													41	32					4.44401e-20	6.75545e-20	0.853193	1	0
GPR101	83550	broad.mit.edu	37	X	136112644	136112644	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:136112644G>T	ENST00000298110.1	-	1	1189	c.1190C>A	c.(1189-1191)gCt>gAt	p.A397D		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	397						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CACTTTAGCAGCTTTGCACTG	0.552000													18	109					4.54149e-19	6.77772e-19	0.624587	1	0
TRBV5-7	28608	broad.mit.edu	37	7	142111551	142111551	+	RNA	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:142111551G>T	ENST00000390378.1	-	0	184																											GATAAACTGGGGCCCCTGACC	0.502000													46	57					1.11015e-26	1.88284e-26	0.870114	1	0
GDF6	392255	broad.mit.edu	37	8	97157007	97157007	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:97157007C>G	ENST00000287020.5	-	2	1251	c.1152G>C	c.(1150-1152)gaG>gaC	p.E384D		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	384					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CGCATACACCCTCGCAGTGAT	0.637000													18	31					0	0	0.639603	0	0
FAM84A	151354	broad.mit.edu	37	2	14774292	14774292	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:14774292C>A	ENST00000295092.2	+	2	477	c.189C>A	c.(187-189)ccC>ccA	p.P63P	FAM84A_ENST00000331243.4_Silent_p.P63P	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	63										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			GTTGCACCCCCTGCCCGGAGA	0.637000													4	20					0.0215528	0.0218645	0.217242	1	0
CEP350	9857	broad.mit.edu	37	1	180017793	180017793	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:180017793A>G	ENST00000367607.3	+	22	5163	c.4745A>G	c.(4744-4746)gAt>gGt	p.D1582G		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1582						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ACTGCTGCAGATGATTCTCTA	0.363000													36	31					0	0	0.870114	0	0
PGRMC1	10857	broad.mit.edu	37	X	118377132	118377132	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:118377132G>T	ENST00000217971.7	+	3	614	c.503G>T	c.(502-504)gGc>gTc	p.G168V	PGRMC1_ENST00000535419.1_Missense_Mutation_p.G116V	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	168	Cytochrome b5 heme-binding.					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding			lung(6)	6						CATCACGTGGGCAAACTGCTG	0.413000													21	81					7.01153e-11	8.54259e-11	0.717897	1	0
PAPPA	5069	broad.mit.edu	37	9	119094729	119094729	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr9:119094729G>T	ENST00000328252.3	+	12	3748	c.3379G>T	c.(3379-3381)Gat>Tat	p.D1127Y	PAPPA_ENST00000534838.1_Missense_Mutation_p.D165Y	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1127					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGATACCAAAGATCAGAGCCA	0.502000													17	30					8.10497e-08	9.28714e-08	0.592651	1	0
G6PC	2538	broad.mit.edu	37	17	41063133	41063133	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:41063133C>A	ENST00000253801.2	+	5	843	c.764C>A	c.(763-765)aCc>aAc	p.T255N	G6PC_ENST00000592383.1_3'UTR|G6PC_ENST00000585489.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	255			T -> I (in GSD1A).		gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CACATTGACACCACACCCTTT	0.577000													13	35					0.00244969	0.00254023	0.457914	1	0
KRAS	3845	broad.mit.edu	37	12	25398262	25398262	+	Missense_Mutation	SNP	C	C	G	rs121913538		TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:25398262C>G	ENST00000311936.3	-	2	248	c.57G>C	c.(55-57)ttG>ttC	p.L19F	KRAS_ENST00000256078.4_Missense_Mutation_p.L19F|KRAS_ENST00000557334.1_Missense_Mutation_p.L19F|KRAS_ENST00000556131.1_Missense_Mutation_p.L19F	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	19					activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.L19F(15)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCTGTATCGTCAAGGCACTCT	0.358000		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			34	19					0	0	0.853193	0	0
ANAPC1	64682	broad.mit.edu	37	2	112545812	112545812	+	Splice_Site	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:112545812G>A	ENST00000341068.3	-	39	5570	c.4799_splice	c.e39+1	p.R1600_splice		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1600					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TAGACTCACCGGTTGTCAGTG	0.413000													22	61					0	0	0.717897	0	0
NR4A2	4929	broad.mit.edu	37	2	157186608	157186608	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:157186608T>A	ENST00000339562.4	-	3	453	c.91A>T	c.(91-93)Agc>Tgc	p.S31C	NR4A2_ENST00000426264.1_Intron|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000409572.1_Missense_Mutation_p.S31C|NR4A2_ENST00000539077.1_Missense_Mutation_p.S42C|NR4A2_ENST00000409108.2_Missense_Mutation_p.S31C	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	31					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						AAATCGGAGCTGTATTCTCCC	0.507000													55	38					0	0	0.870114	0	0
CRB2	286204	broad.mit.edu	37	9	126125171	126125171	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr9:126125171C>A	ENST00000373631.3	+	2	123	c.122C>A	c.(121-123)gCc>gAc	p.A41D	CRB2_ENST00000359999.3_Missense_Mutation_p.A41D	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	41						extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCCCCCAGTGCCTGTGCCTCA	0.647000													74	37					2.08528e-44	4.05494e-44	0.870114	1	0
COL11A1	1301	broad.mit.edu	37	1	103468348	103468348	+	Splice_Site	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:103468348C>T	ENST00000358392.2	-	22	2352		c.e22-1		COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000461720.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGCCATACCCTGCAATGAAG	0.343000													28	43					0	0	0.870114	0	0
OR2T11	127077	broad.mit.edu	37	1	248790120	248790120	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:248790120T>C	ENST00000330803.2	-	1	371	c.310A>G	c.(310-312)Atg>Gtg	p.M104V		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAACCAATCATGGTCAGGTAG	0.498000													15	52					0	0	0.520397	0	0
PROSER1	80209	broad.mit.edu	37	13	39586351	39586351	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr13:39586351C>A	ENST00000352251.3	-	12	3414	c.2581G>T	c.(2581-2583)Gct>Tct	p.A861S	PROSER1_ENST00000484434.2_5'UTR|PROSER1_ENST00000350125.3_Missense_Mutation_p.A839S	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	861																	CTGCCTGCAGCTTGAAGTCCA	0.393000													60	147					2.18329e-32	3.90526e-32	0.870114	1	0
BMP7	655	broad.mit.edu	37	20	55758884	55758884	+	Silent	SNP	C	C	T	rs147083949		TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr20:55758884C>T	ENST00000395863.3	-	4	1357	c.852G>A	c.(850-852)acG>acA	p.T284T	BMP7_ENST00000395864.3_Intron|BMP7_ENST00000450594.2_Silent_p.T284T|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	284					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			AGTGGACCTCCGTGGCCTTGA	0.642000													22	86					0	0	0.639603	0	0
ABCB1	5243	broad.mit.edu	37	7	87145836	87145836	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:87145836C>A	ENST00000265724.3	-	25	3490	c.3073G>T	c.(3073-3075)Ggc>Tgc	p.G1025C	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.G961C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1025					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)	GGCATTAGGCCTTCCGTGCTG	0.388000													76	136					1.03567e-68	2.15016e-68	0.870114	1	0
DNAJC22	79962	broad.mit.edu	37	12	49742701	49742701	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:49742701G>A	ENST00000549441.2	+	3	1250	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	DNAJC22_ENST00000395069.3_Missense_Mutation_p.G16S			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	16					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						GGCTGTGGGGGGCCCTGCTGG	0.647000													15	72					0	0	0.500413	0	0
KRTAP4-3	85290	broad.mit.edu	37	17	39324408	39324408	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:39324408C>A	ENST00000391356.2	-	1	16	c.17G>T	c.(16-18)tGt>tTt	p.C6F		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	6						keratin filament				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GACAGAGCCACAGCAGGAGCT	0.597000													14	49					3.41278e-10	4.09701e-10	0.520397	1	0
PIK3R4	30849	broad.mit.edu	37	3	130425866	130425866	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:130425866C>A	ENST00000356763.3	-	11	3204	c.2647G>T	c.(2647-2649)Gtg>Ttg	p.V883L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	883					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GTCTGAATCACCTCCTGATCA	0.483000													23	12					2.44723e-14	3.30107e-14	0.681144	1	0
SAP130	79595	broad.mit.edu	37	2	128772485	128772485	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:128772485G>T	ENST00000357702.5	-	5	720	c.589C>A	c.(589-591)Cat>Aat	p.H197N	SAP130_ENST00000259235.3_Missense_Mutation_p.H197N|SAP130_ENST00000259234.6_Missense_Mutation_p.H171N	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	197					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TTACTGGGATGGCCCTGAAAG	0.453000													16	32					2.35188e-11	2.91242e-11	0.539581	1	0
TRO	7216	broad.mit.edu	37	X	54957723	54957723	+	Silent	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:54957723A>T	ENST00000319167.8	+	13	2185	c.2073A>T	c.(2071-2073)ccA>ccT	p.P691P	TRO_ENST00000375041.2_3'UTR|TRO_ENST00000173898.7_3'UTR|TRO_ENST00000375022.4_Silent_p.P691P|TRO_ENST00000399736.1_Silent_p.P294P|TRO_ENST00000420798.2_3'UTR	NM_016157.2	NP_057241.2	Q12816	TROP_HUMAN	trophinin	0					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATCTTTGTCCACACAGCAGTC	0.418000													40	200					0	0	0.870114	0	0
ARL10	285598	broad.mit.edu	37	5	175793485	175793485	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:175793485G>T	ENST00000310389.5	+	2	382	c.286G>T	c.(286-288)Gtg>Ttg	p.V96L		NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	96							GTP binding			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GTTCCTGCGCGTGTTGTCGGG	0.657000													15	16					3.27435e-08	3.77396e-08	0.457914	1	0
OC90	729330	broad.mit.edu	37	8	133053777	133053777	+	Silent	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:133053777A>T	ENST00000262283.5	-	8	1026	c.927T>A	c.(925-927)tcT>tcA	p.S309S	OC90_ENST00000603859.1_Silent_p.S113S|OC90_ENST00000254627.3_Silent_p.S113S|OC90_ENST00000443356.2_Silent_p.S113S			Q02509	OC90_HUMAN	otoconin 90	113					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CTTACCTGTCAGATTCATCCA	0.502000													41	47					0	0	0.870114	0	0
OR2T33	391195	broad.mit.edu	37	1	248436683	248436683	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:248436683G>T	ENST00000318021.2	-	1	455	c.434C>A	c.(433-435)tCg>tAg	p.S145*		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S145*(1)		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)			GAGCCAACACGACATGGTCAT	0.577000													99	229					1.75887e-64	3.60587e-64	0.870114	1	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679113	37679113	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr13:37679113C>A	ENST00000379800.3	-	1	690	c.281G>T	c.(280-282)gGa>gTa	p.G94V		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	94	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GAGGCTGGGTCCCAGAAGGTC	0.458000													20	49					9.95505e-16	1.38862e-15	0.624587	1	0
MBNL3	55796	broad.mit.edu	37	X	131540322	131540322	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:131540322C>A	ENST00000538204.1	-	2	191	c.126G>T	c.(124-126)aaG>aaT	p.K42N	MBNL3_ENST00000394311.2_5'UTR|MBNL3_ENST00000370853.3_Missense_Mutation_p.K92N|RP5-842K24.2_ENST00000441399.1_RNA|MBNL3_ENST00000370844.1_5'UTR|MBNL3_ENST00000370849.3_Missense_Mutation_p.K42N|MBNL3_ENST00000473364.1_5'UTR|MBNL3_ENST00000370857.3_Missense_Mutation_p.K92N|RP5-842K24.2_ENST00000421483.1_RNA|MBNL3_ENST00000370839.3_Missense_Mutation_p.K92N	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	92					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					CTGCGGCAGTCTTCTGTTGAA	0.478000													44	124					3.61183e-13	4.72279e-13	0.870114	1	0
OR5M9	390162	broad.mit.edu	37	11	56230769	56230769	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:56230769G>C	ENST00000279791.1	-	1	108	c.109C>G	c.(109-111)Ctg>Gtg	p.L37V		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TTTCCCAACAGAGTGATCATG	0.448000													12	47					0	0	0.479597	0	0
PRDM9	56979	broad.mit.edu	37	5	23526365	23526365	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:23526365T>C	ENST00000296682.3	+	11	1350	c.1168T>C	c.(1168-1170)Tgt>Cgt	p.C390R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	390					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GATCCATCCATGTCCCTCATG	0.433000										HNSCC(3;0.000094)			61	129					0	0	0.870114	0	0
SSPO	23145	broad.mit.edu	37	7	149489424	149489424	+	RNA	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:149489424G>T	ENST00000378016.2	+	0	5577							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGGCAGCGAGGGGTGGTGTG	0.687000													4	4					5.9392e-07	6.6427e-07	0.217242	1	0
ACSM1	116285	broad.mit.edu	37	16	20682878	20682878	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:20682878C>A	ENST00000307493.4	-	4	794	c.727G>T	c.(727-729)Gcc>Tcc	p.A243S	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.A243S	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	243					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGTTGTAAGGCCAACCCATGG	0.527000													14	30					2.31682e-05	2.51673e-05	0.479597	1	0
ADAMTS6	11174	broad.mit.edu	37	5	64769486	64769486	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:64769486C>A	ENST00000536360.1	-	2	828	c.15G>T	c.(13-15)tgG>tgT	p.W5C				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	5					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TCAACGTCTTCCACAAAATTT	0.373000													31	68					4.34311e-12	5.48191e-12	0.779181	1	0
KRT6A	3853	broad.mit.edu	37	12	52886555	52886555	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:52886555C>T	ENST00000330722.6	-	1	486	c.418G>A	c.(418-420)Gtc>Atc	p.V140I		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	140	Head.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCTGGTTGACGGTGACCTCT	0.617000													23	68					0	0	0.693898	0	0
CARM1	10498	broad.mit.edu	37	19	11022860	11022860	+	Splice_Site	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:11022860A>G	ENST00000327064.4	+	5	749	c.558_splice	c.e5-1	p.I187_splice	CARM1_ENST00000344150.4_Splice_Site_p.I187_splice	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	187					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CCTCCCTCAGATCGTTCTTGA	0.572000													69	204					0	0	0.870114	0	0
ANKRD7	56311	broad.mit.edu	37	7	117874487	117874487	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:117874487C>G	ENST00000357099.4	+	3	415	c.242C>G	c.(241-243)aCa>aGa	p.T81R	ANKRD7_ENST00000433239.1_Missense_Mutation_p.T8R|ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000265224.4_Missense_Mutation_p.T61R|ANKRD7_ENST00000417525.1_Missense_Mutation_p.T8R			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	61					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TGACATAGAACACCTTTGCAC	0.358000													20	58					0	0	0.608945	0	0
SLC26A5	375611	broad.mit.edu	37	7	103050880	103050880	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:103050880C>A	ENST00000306312.3	-	7	948	c.687G>T	c.(685-687)ctG>ctT	p.L229L	SLC26A5_ENST00000339444.6_Silent_p.L229L|SLC26A5_ENST00000356767.4_Silent_p.L229L|SLC26A5_ENST00000393729.1_Silent_p.L192L|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000432958.2_Silent_p.L229L|SLC26A5_ENST00000393735.2_Silent_p.L229L|SLC26A5_ENST00000393723.1_Silent_p.L229L|SLC26A5_ENST00000393727.1_Silent_p.L229L|SLC26A5_ENST00000393730.1_Silent_p.L229L	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	229					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TAACTCCAAACAGATATTTTA	0.443000													50	66					3.30712e-30	5.82005e-30	0.870114	1	0
FAM151B	167555	broad.mit.edu	37	5	79797618	79797618	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:79797618G>T	ENST00000282226.4	+	2	188	c.33G>T	c.(31-33)tgG>tgT	p.W11C	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	11										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		TAGGATCTTGGAGTGAAAATA	0.323000													89	118					1.1777e-47	2.31763e-47	0.870114	1	0
LRRC7	57554	broad.mit.edu	37	1	70504989	70504989	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:70504989C>T	ENST00000310961.5	+	22	3801	c.3383C>T	c.(3382-3384)aCa>aTa	p.T1128I	LRRC7_ENST00000415775.2_Missense_Mutation_p.T407I|LRRC7_ENST00000035383.5_Missense_Mutation_p.T1123I			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1123						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GTGAGCGCCACAGAAATGGCC	0.592000													64	126					0	0	0.870114	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47611011	47611011	+	Silent	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr20:47611011G>C	ENST00000371917.4	+	22	2997	c.2997G>C	c.(2995-2997)ctG>ctC	p.L999L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	999					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCAGCCAGCTGGAGCTCGCTC	0.493000													18	92					0	0	0.624587	0	0
HAPLN1	1404	broad.mit.edu	37	5	82937481	82937481	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:82937481C>G	ENST00000274341.4	-	5	1749	c.899G>C	c.(898-900)gGa>gCa	p.G300A		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	300	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GCGGTCATATCCGAGAATTTT	0.557000													128	155					0	0	0.870114	0	0
MLLT4	4301	broad.mit.edu	37	6	168276031	168276031	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:168276031G>T	ENST00000366806.2	+	5	737	c.595G>T	c.(595-597)Gct>Tct	p.A199S	MLLT4_ENST00000400822.3_Missense_Mutation_p.A198S|MLLT4_ENST00000344191.4_Missense_Mutation_p.A199S|MLLT4_ENST00000351017.4_Missense_Mutation_p.A199S|MLLT4_ENST00000447894.2_Missense_Mutation_p.A199S|MLLT4_ENST00000392112.1_Missense_Mutation_p.A198S|MLLT4_ENST00000392108.3_Missense_Mutation_p.A199S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	199					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTCTCGACTGGCTGCTGAGGT	0.358000			T	MLL	AL								89	49					4.76065e-52	9.52131e-52	0.870114	1	0
TENM2	57451	broad.mit.edu	37	5	167671450	167671450	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:167671450T>C	ENST00000519204.1	+	25	5301	c.5183T>C	c.(5182-5184)aTt>aCt	p.I1728T	TENM2_ENST00000518659.1_Missense_Mutation_p.I1849T|TENM2_ENST00000545108.1_Missense_Mutation_p.I1848T|TENM2_ENST00000520394.1_Missense_Mutation_p.I1610T|TENM2_ENST00000403607.2_Missense_Mutation_p.I1673T					teneurin transmembrane protein 2																		CTCTTGTCCATTGACTATGAT	0.498000													7	18					0	0	0.278610	0	0
UGT1A1	54658	broad.mit.edu	37	2	234678206	234678206	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:234678206G>A	ENST00000360418.3	+	5	1334	c.1334G>A	c.(1333-1335)tGa>tAa	p.*445*	UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Silent_p.*177*|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000305208.5_Intron|UGT1A10_ENST00000373445.1_Silent_p.*442*|UGT1A8_ENST00000373450.4_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A4_ENST00000373409.3_Intron			P22309	UD11_HUMAN		0					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AGACAGATGTGAAGAGCTGGA	0.507000													12	44					0	0	0.479597	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187312	140187312	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:140187312G>T	ENST00000530339.1	+	1	540	c.540G>T	c.(538-540)ctG>ctT	p.L180L	PCDHA4_ENST00000512229.2_Silent_p.L180L|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Silent_p.L180L|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTTTCTCTGGAAAAACCAC	0.478000													14	41					2.23348e-06	2.46436e-06	0.500413	1	0
UTP14A	10813	broad.mit.edu	37	X	129054701	129054701	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:129054701G>A	ENST00000394422.3	+	10	955	c.927G>A	c.(925-927)aaG>aaA	p.K309K	UTP14A_ENST00000371042.3_Silent_p.K141K|UTP14A_ENST00000371051.5_Silent_p.K255K|UTP14A_ENST00000498179.1_3'UTR|UTP14A_ENST00000425117.2_Silent_p.K257K|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	309					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CCAAGTCAAAGGCAATTATGG	0.463000													7	151					0	0	0.307466	0	0
HS3ST5	222537	broad.mit.edu	37	6	114379301	114379301	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:114379301G>C	ENST00000312719.5	-	5	1349	c.161C>G	c.(160-162)gCt>gGt	p.A54G	HS3ST5_ENST00000411826.1_Missense_Mutation_p.A54G|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	54					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TGGGAATTCAGCCTGAGTGCG	0.557000													17	12					0	0	0.592651	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28306975	28306975	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr21:28306975G>A	ENST00000284987.5	-	4	1620	c.1499C>T	c.(1498-1500)aCa>aTa	p.T500I	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	500	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AGGCCCGAATGTCAGGTTGCA	0.582000													32	35					0	0	0.796494	0	0
CACNA1E	777	broad.mit.edu	37	1	181727135	181727135	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:181727135C>T	ENST00000526775.1	+	30	4490	c.4325C>T	c.(4324-4326)cCg>cTg	p.P1442L	CACNA1E_ENST00000358338.5_Missense_Mutation_p.P1393L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1412L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1442L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1461L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1461L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P1068L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1461					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.P1461Q(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCTACATGCCGCAGAACAGA	0.507000													42	286					0	0	0.870114	0	0
STAG2	10735	broad.mit.edu	37	X	123200237	123200237	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:123200237A>G	ENST00000371160.1	+	23	2506	c.2216A>G	c.(2215-2217)tAt>tGt	p.Y739C	STAG2_ENST00000371157.3_Missense_Mutation_p.Y739C|STAG2_ENST00000371145.3_Missense_Mutation_p.Y739C|STAG2_ENST00000354548.5_Missense_Mutation_p.Y670C|STAG2_ENST00000218089.9_Missense_Mutation_p.Y739C|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.Y739C			Q8N3U4	STAG2_HUMAN	stromal antigen 2	739					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						TGTACTCACTATGTAATCCTT	0.323000													32	101					0	0	0.834066	0	0
ZNF215	7762	broad.mit.edu	37	11	6977128	6977128	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:6977128A>T	ENST00000278319.5	+	7	1508	c.920A>T	c.(919-921)aAg>aTg	p.K307M	ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.K307M	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	307					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AGTGAAAATAAGAAAAGCTTT	0.338000													29	51					0	0	0.788014	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701988	96701988	+	Missense_Mutation	SNP	G	G	A	rs12414460		TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:96701988G>A	ENST00000260682.6	+	3	383	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	124					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AAGGAGATCCGGCGTTTCTCC	0.507000													14	72					0	0	0.479597	0	0
TRIM10	10107	broad.mit.edu	37	6	30128385	30128385	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:30128385C>T	ENST00000449742.2	-	1	326	c.251G>A	c.(250-252)cGc>cAc	p.R84H	TRIM10_ENST00000376704.3_Missense_Mutation_p.R84H	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	84						cytoplasm	zinc ion binding			ovary(1)	1						CAGCTGGAGGCGCTCAATGTT	0.567000													60	162					0	0	0.870114	0	0
KIF18A	81930	broad.mit.edu	37	11	28090899	28090899	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:28090899C>A	ENST00000263181.6	-	11	1787	c.1497G>T	c.(1495-1497)gaG>gaT	p.E499D		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	499					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TCAATTCCTCCTCCCTCCTTT	0.403000													39	64					2.6416e-12	3.36453e-12	0.819951	1	0
TRBV6-6	28601	broad.mit.edu	37	7	142162094	142162094	+	RNA	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:142162094C>A	ENST00000390371.3	-	0	224																											AGCTTCAGCCCCATGCCTGGG	0.463000													53	306					2.08266e-14	2.81704e-14	0.870114	1	0
REPIN1	29803	broad.mit.edu	37	7	150069688	150069688	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:150069688A>T	ENST00000397281.2	+	4	1847	c.1358A>T	c.(1357-1359)cAc>cTc	p.H453L	REPIN1_ENST00000489432.2_Missense_Mutation_p.H510L|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000540729.1_Missense_Mutation_p.H453L|REPIN1_ENST00000444957.1_Missense_Mutation_p.H453L|REPIN1_ENST00000425389.2_Missense_Mutation_p.H453L	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	453					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CGGCGCGACCACGCCCCCGAT	0.741000													8	36					0	0	0.278610	0	0
RGS21	431704	broad.mit.edu	37	1	192335244	192335244	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:192335244C>A	ENST00000417209.2	+	5	623	c.449C>A	c.(448-450)cCt>cAt	p.P150H		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	150					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						AAATGGCTCCCTTTTTTGTGA	0.333000													28	15					2.08457e-15	2.89131e-15	0.750413	1	0
MLC1	23209	broad.mit.edu	37	22	50523302	50523302	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr22:50523302C>A	ENST00000311597.5	-	2	636	c.30G>T	c.(28-30)ctG>ctT	p.L10L	MLC1_ENST00000395876.2_Silent_p.L10L|MLC1_ENST00000450140.2_Silent_p.L10L|MLC1_ENST00000431262.2_Silent_p.L10L|MLC1_ENST00000538737.1_Silent_p.L10L|MLC1_ENST00000535444.1_Intron	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	10						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GGTCATAGGCCAGCTCCTCTC	0.597000													14	15					4.7546e-09	5.57162e-09	0.500413	1	0
HRNR	388697	broad.mit.edu	37	1	152187759	152187759	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:152187759G>T	ENST00000368801.2	-	3	6421	c.6346C>A	c.(6346-6348)Cag>Aag	p.Q2116K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2116					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)			CTAGAGGACTGCCCTGAGCTA	0.582000													28	680					3.99451e-17	5.72643e-17	0.740014	1	0
TRBV11-1	28582	broad.mit.edu	37	7	142223881	142223881	+	RNA	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:142223881G>T	ENST00000390367.3	-	0	302																											TGGATCTTGAGAGTGGAGTCT	0.498000													60	193					2.94884e-30	5.19885e-30	0.870114	1	0
VSTM2A	222008	broad.mit.edu	37	7	54617660	54617660	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:54617660C>A	ENST00000302287.3	+	4	837	c.431C>A	c.(430-432)gCc>gAc	p.A144D	VSTM2A_ENST00000402026.2_Missense_Mutation_p.A143D|VSTM2A_ENST00000402613.3_Missense_Mutation_p.A144D|VSTM2A_ENST00000404951.1_Missense_Mutation_p.A144D|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000407838.3_Missense_Mutation_p.A144D			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	144						extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			AAGGCCCAGGCCTATCTGAAA	0.532000													12	24					3.45872e-05	3.74472e-05	0.500413	1	0
EIF5	1983	broad.mit.edu	37	14	103804719	103804719	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:103804719C>A	ENST00000216554.3	+	7	1171	c.495C>A	c.(493-495)ggC>ggA	p.G165G	EIF5_ENST00000392715.2_Silent_p.G165G|EIF5_ENST00000558506.1_Silent_p.G165G	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	165					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			acagaaagggcaaagacaagg	0.398000													9	18					3.09899e-07	3.49793e-07	0.307466	1	0
IRF6	3664	broad.mit.edu	37	1	209969729	209969729	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:209969729C>A	ENST00000367021.3	-	4	515	c.343G>T	c.(343-345)Gac>Tac	p.D115Y	IRF6_ENST00000542854.1_Missense_Mutation_p.D20Y	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	115					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGAGGGATGTCACACACTTGA	0.542000										HNSCC(57;0.16)			13	89					7.93312e-07	8.85264e-07	0.457914	1	0
OR10H4	126541	broad.mit.edu	37	19	16060238	16060238	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:16060238G>A	ENST00000322107.1	+	1	421	c.421G>A	c.(421-423)Gac>Aac	p.D141N		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GAGCCCCCGTGACTGTGCCCA	0.537000													56	27					0	0	0.870114	0	0
CEP350	9857	broad.mit.edu	37	1	179965881	179965881	+	Silent	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:179965881T>C	ENST00000367607.3	+	6	1007	c.589T>C	c.(589-591)Tta>Cta	p.L197L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	197						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TGTTAGGTTTTTAAATGATCG	0.398000													11	30					0	0	0.435327	0	0
RLTPR	146206	broad.mit.edu	37	16	67680869	67680869	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:67680869G>T	ENST00000334583.6	+	8	932	c.604G>T	c.(604-606)Ggc>Tgc	p.G202C	RLTPR_ENST00000545661.1_Missense_Mutation_p.G202C	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	202										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CAGCCACCTCGGCAGTCGGTG	0.627000													7	14					0.000157383	0.000167262	0.278610	1	0
MAGIX	79917	broad.mit.edu	37	X	49022529	49022529	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:49022529C>T	ENST00000376338.3	+	4	698	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	MAGIX_ENST00000376339.1_Missense_Mutation_p.R202W|MAGIX_ENST00000425661.2_Missense_Mutation_p.R190W|MAGIX_ENST00000412696.2_Missense_Mutation_p.R266W|MAGIX_ENST00000498742.1_3'UTR			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	266	PDZ.																CAAGAAGACCCGGGGCAGCCC	0.677000													3	46					0	0	0.115264	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543116	182543116	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:182543116G>T	ENST00000295108.3	-	2	929	c.472C>A	c.(472-474)Cgc>Agc	p.R158S	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	158					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTGCCTGAGCGCAGGATCTCC	0.562000													18	47					1.64293e-13	2.17434e-13	0.654019	1	0
SLC22A9	114571	broad.mit.edu	37	11	63138670	63138670	+	Missense_Mutation	SNP	A	A	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:63138670A>C	ENST00000279178.3	+	2	715	c.466A>C	c.(466-468)Atg>Ctg	p.M156L	SLC22A9_ENST00000310969.4_Missense_Mutation_p.M156L	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	156					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CATGGCTGGAATGATGGTGGG	0.423000													18	124					0	0	0.639603	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90500604	90500604	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr9:90500604C>T	ENST00000325643.5	+	4	1268	c.1202C>T	c.(1201-1203)aCg>aTg	p.T401M		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		TGGGACATCACGACCCTAAAT	0.562000													51	25					0	0	0.870114	0	0
KLK8	11202	broad.mit.edu	37	19	51503426	51503426	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:51503426G>A	ENST00000600767.1	-	5	808	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	KLK8_ENST00000593490.1_Intron|KLK8_ENST00000391806.2_Missense_Mutation_p.P152S|KLK8_ENST00000291726.7_Missense_Mutation_p.P107S|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000347619.4_Intron			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	107	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TTGTAGCAGGGGTGTGGGATG	0.527000													25	54					0	0	0.717897	0	0
ISG15	9636	broad.mit.edu	37	1	949579	949579	+	Silent	SNP	G	G	T	rs151259752	by1000genomes	TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:949579G>T	ENST00000379389.4	+	2	370	c.219G>T	c.(217-219)ctG>ctT	p.L73L		NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	73	Ubiquitin-like 1.				cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CGGTCCTGCTGGTGGTGGACA	0.672000													9	59					2.68362e-12	3.4092e-12	0.411799	1	0
NUP85	79902	broad.mit.edu	37	17	73214376	73214376	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:73214376G>A	ENST00000245544.4	+	7	643	c.572G>A	c.(571-573)aGc>aAc	p.S191N	NUP85_ENST00000579324.1_Missense_Mutation_p.S79N|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000579298.1_Missense_Mutation_p.S191N|NUP85_ENST00000541827.1_Missense_Mutation_p.S145N|NUP85_ENST00000447371.2_Intron	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	191					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GAGAATCCAAGCAAACATGAC	0.602000													33	143					0	0	0.819951	0	0
PDE1A	5136	broad.mit.edu	37	2	183387062	183387062	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:183387062G>T	ENST00000435564.1	-	1	242	c.42C>A	c.(40-42)acC>acA	p.T14T	PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000331935.6_Silent_p.T14T|PDE1A_ENST00000456212.1_Silent_p.T14T|PDE1A_ENST00000410103.1_Silent_p.T14T|PDE1A_ENST00000358139.2_Silent_p.T14T	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	14					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ACTTAAAAGTGGTGTTTTCCA	0.408000													32	98					9.9191e-30	1.73938e-29	0.840704	1	0
KIF2B	84643	broad.mit.edu	37	17	51902217	51902217	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:51902217A>G	ENST00000268919.4	+	1	1979	c.1823A>G	c.(1822-1824)gAt>gGt	p.D608G		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	608					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.D608G(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTAGGGAAGGATACCACAATT	0.433000													79	141					0	0	0.870114	0	0
EHD1	10938	broad.mit.edu	37	11	64627432	64627432	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:64627432C>A	ENST00000320631.3	-	3	1133	c.879G>T	c.(877-879)aaG>aaT	p.K293N	EHD1_ENST00000359393.2_Missense_Mutation_p.K293N	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	293					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GGTCATTGAGCTTCCTGAGGG	0.632000													31	57					5.2432e-18	7.65056e-18	0.870114	1	0
SYN3	8224	broad.mit.edu	37	22	33402437	33402437	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr22:33402437G>T	ENST00000358763.2	-	2	453	c.211C>A	c.(211-213)Cct>Act	p.P71T	SYN3_ENST00000332840.5_Missense_Mutation_p.P71T	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	71	B; linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTGGCCTGAGGGGCCTGCTTC	0.612000													16	138					5.01169e-05	5.37867e-05	0.520397	1	0
KSR1	8844	broad.mit.edu	37	17	25783761	25783761	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:25783761G>T	ENST00000319524.6	+	1	92	c.92G>T	c.(91-93)gGg>gTg	p.G31V	KSR1_ENST00000509603.2_Missense_Mutation_p.G31V			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	29					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GGAGGCGCAGGGGCCGCGGCC	0.736000													8	7					0.000157383	0.000167262	0.278610	1	0
XIST	7503	broad.mit.edu	37	X	73068819	73068819	+	RNA	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:73068819C>A	ENST00000429829.1	-	0	3769					NR_001564.2																						AGGGAAGGGGCTCTAAGAATG	0.378000													8	40					3.86212e-05	4.14945e-05	0.361761	1	0
TTN	7273	broad.mit.edu	37	2	179669312	179669312	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:179669312C>A	ENST00000589042.1	-	2	282	c.58G>T	c.(58-60)Ggt>Tgt	p.G20C	TTN_ENST00000591111.1_Missense_Mutation_p.G20C|TTN_ENST00000342992.6_Missense_Mutation_p.G20C|TTN_ENST00000360870.5_Missense_Mutation_p.G20C|TTN_ENST00000460472.2_Missense_Mutation_p.G20C|TTN_ENST00000359218.5_Missense_Mutation_p.G20C|TTN_ENST00000342175.6_Missense_Mutation_p.G20C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20	Ig-like 1.						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)			GCGGTACTACCCTCCAGTACC	0.433000													10	32					0.435327	0.436215	0.435327	1	0
CCDC71L	168455	broad.mit.edu	37	7	106300653	106300653	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:106300653G>A	ENST00000523505.1	-	1	789	c.690C>T	c.(688-690)ttC>ttT	p.F230F		NM_175884.4	NP_787080.2	Q8N9Z2	YG034_HUMAN	coiled-coil domain containing 71-like	230										endometrium(1)	1						GGGGCACCGGGAAGCGGCGGA	0.726000											OREG0018261	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	7					0	0	0.278610	0	0
BPIFB4	149954	broad.mit.edu	37	20	31672767	31672767	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr20:31672767G>A	ENST00000375483.3	+	4	747	c.747G>A	c.(745-747)ctG>ctA	p.L249L		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	249						cytoplasm|extracellular region	lipid binding										GTGTCTACCTGAGCTTGTACA	0.647000													28	38					0	0	0.788014	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564490	66564490	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:66564490G>T	ENST00000360242.5	+	6	1205	c.1088G>T	c.(1087-1089)tGg>tTg	p.W363L	CCDC102B_ENST00000584156.1_Missense_Mutation_p.W363L|CCDC102B_ENST00000319445.6_Missense_Mutation_p.W363L|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Missense_Mutation_p.W363L	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	363										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				ACCTCGGAGTGGGACAAGAGG	0.428000													52	77					1.52378e-38	2.86657e-38	0.870114	1	0
MDGA2	161357	broad.mit.edu	37	14	47601035	47601035	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:47601035G>T	ENST00000439988.2	-	5	599	c.600C>A	c.(598-600)atC>atA	p.I200I	MDGA2_ENST00000399232.2_Silent_p.I269I|MDGA2_ENST00000357362.3_5'UTR|MDGA2_ENST00000426342.1_5'UTR			Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	200	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTAGTTTTAAGATCTTTGTTT	0.328000													5	7					0.014758	0.0150024	0.184627	1	0
LRRC4	64101	broad.mit.edu	37	7	127670148	127670148	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:127670148C>A	ENST00000249363.3	-	2	803	c.546G>T	c.(544-546)aaG>aaT	p.K182N	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	182						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		ACTCCAGCTTCTTGAGCTCCC	0.547000													24	99					1.04121e-07	1.1903e-07	0.693898	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125298868	125298868	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:125298868C>A	ENST00000538699.1	-	2	1120	c.1040G>T	c.(1039-1041)cGa>cTa	p.R347L	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R347L	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	347										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCACCCTCTCGAGAGCACAG	0.622000													17	78					6.94344e-10	8.2648e-10	0.539581	1	0
TSPAN32	10077	broad.mit.edu	37	11	2338675	2338675	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:2338675G>A	ENST00000182290.4	+	9	958	c.821G>A	c.(820-822)gGa>gAa	p.G274E	TSPAN32_ENST00000381121.3_Intron|TSPAN32_ENST00000451520.2_Missense_Mutation_p.G263E	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	274					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GGTCCAAGAGGATGCTCGGGT	0.637000													17	17					0	0	0.520397	0	0
C3orf70	285382	broad.mit.edu	37	3	184800918	184800918	+	Silent	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:184800918T>C	ENST00000335012.2	-	2	820	c.630A>G	c.(628-630)ggA>ggG	p.G210G		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	210										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						TCAGTTCTGCTCCTTCTTCTG	0.517000													23	44					0	0	0.639603	0	0
KRT2	3849	broad.mit.edu	37	12	53045524	53045524	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:53045524A>T	ENST00000309680.3	-	1	424	c.403T>A	c.(403-405)Tta>Ata	p.L135I		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	135	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GGACCCCCTAAacctccaaca	0.602000													11	30					0	0	0.411799	0	0
NRXN1	9378	broad.mit.edu	37	2	50724588	50724588	+	Missense_Mutation	SNP	A	A	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:50724588A>C	ENST00000404971.1	-	15	4221	c.2882T>G	c.(2881-2883)tTg>tGg	p.L961W	NRXN1_ENST00000406316.2_Missense_Mutation_p.L921W|NRXN1_ENST00000401669.2_Missense_Mutation_p.L921W|NRXN1_ENST00000405472.3_Missense_Mutation_p.L913W|NRXN1_ENST00000402717.3_Missense_Mutation_p.L913W|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.L921W	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	921	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTAGGCTTGCAAGGTAGCTAA	0.398000													15	31					0	0	0.457914	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319678	21319678	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:21319678T>A	ENST00000583088.1	+	3	1919	c.1024T>A	c.(1024-1026)Tac>Aac	p.Y342N	KCNJ12_ENST00000331718.5_Missense_Mutation_p.Y342N	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CAAGATTGACTACTCGCACTT	0.582000										Prostate(3;0.18)			46	135					0	0	0.870114	0	0
SLC8A3	6547	broad.mit.edu	37	14	70527574	70527574	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:70527574A>T	ENST00000381269.2	-	3	2620	c.1867T>A	c.(1867-1869)Tgg>Agg	p.W623R	SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000357887.3_Intron|SLC8A3_ENST00000356921.2_Missense_Mutation_p.W623R|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000216568.7_5'UTR|SLC8A3_ENST00000534137.1_Missense_Mutation_p.W623R|SLC8A3_ENST00000533899.1_5'UTR|SLC8A3_ENST00000528359.1_Intron	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	623					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CGTTCCATCCATTTCGGTTCA	0.338000													21	64					0	0	0.667858	0	0
FAM127C	441518	broad.mit.edu	37	X	134156204	134156204	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:134156204C>A	ENST00000391440.1	-	1	355	c.286G>T	c.(286-288)Ggc>Tgc	p.G96C		NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	96										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					GCCAGGAAGCCCCGGTAATCA	0.642000													17	74					8.34094e-07	9.28662e-07	0.575678	1	0
CTNND1	1500	broad.mit.edu	37	11	57564376	57564376	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:57564376G>T	ENST00000524630.1	+	6	1381	c.868G>T	c.(868-870)Ggc>Tgc	p.G290C	CTNND1_ENST00000415361.2_Missense_Mutation_p.G189C|CTNND1_ENST00000532844.1_Missense_Mutation_p.G236C|CTNND1_ENST00000528232.1_Missense_Mutation_p.G189C|CTNND1_ENST00000532245.1_Missense_Mutation_p.G189C|CTNND1_ENST00000530748.1_Missense_Mutation_p.G236C|CTNND1_ENST00000530094.1_Missense_Mutation_p.G189C|CTNND1_ENST00000529526.1_Missense_Mutation_p.G236C|CTNND1_ENST00000532787.1_Missense_Mutation_p.G189C|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000426142.2_Missense_Mutation_p.G189C|CTNND1_ENST00000358694.6_Missense_Mutation_p.G290C|CTNND1_ENST00000361391.6_Missense_Mutation_p.G290C|CTNND1_ENST00000532463.1_Missense_Mutation_p.G189C|CTNND1_ENST00000428599.2_Missense_Mutation_p.G290C|CTNND1_ENST00000529919.1_Missense_Mutation_p.G290C|CTNND1_ENST00000399050.4_Missense_Mutation_p.G290C|CTNND1_ENST00000526357.1_Missense_Mutation_p.G236C|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000529873.1_Missense_Mutation_p.G236C|CTNND1_ENST00000532649.1_Missense_Mutation_p.G236C|CTNND1_ENST00000534579.1_Missense_Mutation_p.G236C|CTNND1_ENST00000526938.1_Missense_Mutation_p.G290C|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000399039.4_Missense_Mutation_p.G290C|CTNND1_ENST00000361332.4_Missense_Mutation_p.G290C|CTNND1_ENST00000361796.4_Missense_Mutation_p.G290C|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000529986.1_Missense_Mutation_p.G189C|CTNND1_ENST00000528621.1_Missense_Mutation_p.G236C|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000360682.6_Missense_Mutation_p.G290C			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	290					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GCGTAGTATGGGCTATGATGA	0.567000													80	121					1.0532e-45	2.06025e-45	0.870114	1	0
XIRP2	129446	broad.mit.edu	37	2	167992448	167992448	+	Silent	SNP	G	G	T	rs147656892	by1000genomes	TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:167992448G>T	ENST00000409195.1	+	3	527	c.438G>T	c.(436-438)tcG>tcT	p.S146S	XIRP2_ENST00000420519.1_Silent_p.S146S|XIRP2_ENST00000409728.1_Silent_p.S146S|XIRP2-AS1_ENST00000525330.1_RNA|XIRP2_ENST00000295237.9_Silent_p.S146S|XIRP2_ENST00000409756.2_Silent_p.S146S|XIRP2_ENST00000409043.1_Silent_p.S146S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTTGTGCTCGCCAGCTTTTA	0.423000													18	47					7.45023e-12	9.3437e-12	0.592651	1	0
ANKRD50	57182	broad.mit.edu	37	4	125591989	125591989	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:125591989T>C	ENST00000504087.1	-	4	3480	c.2443A>G	c.(2443-2445)Agg>Ggg	p.R815G	ANKRD50_ENST00000515641.1_Missense_Mutation_p.R636G	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	815										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AGGACTGTCCTACCTTCACTA	0.453000													53	112					0	0	0.870114	0	0
FYB	2533	broad.mit.edu	37	5	39203013	39203013	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:39203013T>C	ENST00000351578.6	-	2	240	c.50A>G	c.(49-51)aAt>aGt	p.N17S	FYB_ENST00000505428.1_Missense_Mutation_p.N17S|FYB_ENST00000540520.1_Missense_Mutation_p.N27S|FYB_ENST00000512982.1_Missense_Mutation_p.N17S|FYB_ENST00000515010.1_Missense_Mutation_p.N17S	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	17					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GGGTCGGCTATTGACTGAGAC	0.468000													18	141					0	0	0.592651	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571259	155571259	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:155571259C>A	ENST00000392845.2	-	1	908	c.528G>T	c.(526-528)gtG>gtT	p.V176V	SLC33A1_ENST00000359479.3_Silent_p.V176V	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	176					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGAGAGCAATCACGTCGGGTG	0.478000													29	23					6.90743e-12	8.67403e-12	0.788014	1	0
SV2C	22987	broad.mit.edu	37	5	75597259	75597259	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:75597259G>A	ENST00000502798.2	+	12	2331	c.1889G>A	c.(1888-1890)gGc>gAc	p.G630D	SV2C_ENST00000322285.7_Missense_Mutation_p.G630D|RP11-466P24.6_ENST00000502589.1_RNA	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	630					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CTTTGGTTCGGCACCAGTGAA	0.488000													5	325					0	0	0.217242	0	0
CBFA2T3	863	broad.mit.edu	37	16	88951468	88951468	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:88951468C>G	ENST00000268679.4	-	7	1499	c.1103G>C	c.(1102-1104)cGc>cCc	p.R368P	CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R292P|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R282P|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R330P|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R282P|RP11-830F9.5_ENST00000565053.1_RNA	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	368	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CGGCCGATGGCGCTCTCGTAG	0.677000			T	RUNX1	AML								6	8					0	0	0.278610	0	0
KIAA0430	9665	broad.mit.edu	37	16	15698213	15698213	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:15698213G>A	ENST00000396368.3	-	22	4431	c.4225C>T	c.(4225-4227)Cga>Tga	p.R1409*	KIAA0430_ENST00000344181.3_Nonsense_Mutation_p.R1011*|KIAA0430_ENST00000540441.2_Nonsense_Mutation_p.R1244*|KIAA0430_ENST00000547936.1_5'UTR|KIAA0430_ENST00000551742.1_Nonsense_Mutation_p.R1409*|KIAA0430_ENST00000548025.1_Nonsense_Mutation_p.R1406*|KIAA0430_ENST00000602337.1_Nonsense_Mutation_p.R1406*	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1408						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGAGACTTTCGGTTGATCAGC	0.468000													24	47					0	0	0.760397	0	0
C11orf88	399949	broad.mit.edu	37	11	111407526	111407526	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:111407526C>A	ENST00000332814.6	+	7	565	c.565C>A	c.(565-567)Caa>Aaa	p.Q189K	C11orf88_ENST00000529167.1_3'UTR|C11orf88_ENST00000375618.4_Missense_Mutation_p.Q162K	NM_207430.2	NP_997313.2	Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	162										endometrium(1)|large_intestine(3)|lung(2)	6						TAAAGAGGACCAAGAAGAAGT	0.408000													41	62					6.31075e-24	1.02943e-23	0.870114	1	0
SPTBN5	51332	broad.mit.edu	37	15	42178377	42178377	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr15:42178377C>T	ENST00000320955.6	-	7	1303	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	359					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTGCTGTAGCCGGGGTGGCTT	0.662000													10	22					0	0	0.361761	0	0
EPHA5	2044	broad.mit.edu	37	4	66197713	66197713	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:66197713C>A	ENST00000273854.3	-	17	3586	c.2986G>T	c.(2986-2988)Gct>Tct	p.A996S	EPHA5_ENST00000432638.2_Missense_Mutation_p.A833S|EPHA5_ENST00000354839.4_Missense_Mutation_p.A974S|EPHA5_ENST00000511294.1_Missense_Mutation_p.A997S	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	996	SAM.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGAGCCACAGCGTCCATTGAA	0.418000										TSP Lung(17;0.13)			18	102					5.35267e-07	6.00036e-07	0.557998	1	0
ATF4P4	100127952	broad.mit.edu	37	11	113661421	113661421	+	RNA	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:113661421C>T	ENST00000393544.2	+	0	1469																											CCCCCTAGTCCAGGAGACTAA	0.498000													113	198					0	0	0.870114	0	0
DRD5	1816	broad.mit.edu	37	4	9784498	9784498	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:9784498C>G	ENST00000304374.2	+	1	1241	c.845C>G	c.(844-846)aCc>aGc	p.T282S		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	282					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GCGCCCGACACCAGCCTGCGC	0.632000													4	20					0	0	0.150653	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726451	25726451	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:25726451G>A	ENST00000297012.3	-	1	339	c.305C>T	c.(304-306)aCc>aTc	p.T102I		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	102					nucleosome assembly	nucleosome|nucleus	DNA binding	p.T102S(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CTGGGCAATGGTCACGCCGCC	0.512000													104	122					0	0	0.870114	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61405019	61405019	+	RNA	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:61405019G>C	ENST00000496593.1	+	0	1623					NR_002775.2																						agctgctcctgctgctgctgc	0.557000													3	21					0	0	0.150653	0	0
USP24	23358	broad.mit.edu	37	1	55591178	55591178	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:55591178C>T	ENST00000294383.6	-	34	3774	c.3775G>A	c.(3775-3777)Gac>Aac	p.D1259N	USP24_ENST00000407756.1_Missense_Mutation_p.D1099N	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1259					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTGGTGAGGTCTTCATCTAAT	0.403000													15	31					0	0	0.557998	0	0
HSPG2	3339	broad.mit.edu	37	1	22165500	22165500	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:22165500T>A	ENST00000374695.3	-	74	10047	c.9968A>T	c.(9967-9969)cAc>cTc	p.H3323L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3323	Ig-like C2-type 19.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGTGTCCCGTGAGCCAGGCA	0.677000													21	68					0	0	0.654019	0	0
RASIP1	54922	broad.mit.edu	37	19	49243513	49243513	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:49243513G>T	ENST00000222145.4	-	2	231	c.27C>A	c.(25-27)ggC>ggA	p.G9G		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	9					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GGGGGCTTCCGCCCTCCTTCC	0.652000													21	43					9.78306e-22	1.52492e-21	0.740014	1	0
CHPF2	54480	broad.mit.edu	37	7	150931243	150931243	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:150931243G>T	ENST00000035307.2	+	1	1659	c.146G>T	c.(145-147)cGa>cTa	p.R49L	CHPF2_ENST00000495645.1_Missense_Mutation_p.R41L	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	49						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GTAGGGGAGCGAGGAGGGCCA	0.592000													36	82					1.48646e-12	1.90066e-12	0.853193	1	0
PLEC	5339	broad.mit.edu	37	8	144993575	144993575	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:144993575C>A	ENST00000322810.4	-	32	10994	c.10825G>T	c.(10825-10827)Ggc>Tgc	p.G3609C	PLEC_ENST00000345136.3_Missense_Mutation_p.G3472C|PLEC_ENST00000356346.3_Missense_Mutation_p.G3458C|PLEC_ENST00000354589.3_Missense_Mutation_p.G3472C|PLEC_ENST00000527096.1_Missense_Mutation_p.G3495C|PLEC_ENST00000436759.2_Missense_Mutation_p.G3499C|PLEC_ENST00000398774.2_Missense_Mutation_p.G3440C|PLEC_ENST00000357649.2_Missense_Mutation_p.G3476C|PLEC_ENST00000354958.2_Missense_Mutation_p.G3450C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3609	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATGATGCCGCCCGTGGCGATC	0.682000													16	40					2.23348e-06	2.46436e-06	0.500413	1	0
SERPINB10	5273	broad.mit.edu	37	18	61600369	61600369	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:61600369C>A	ENST00000238508.3	+	7	780	c.721C>A	c.(721-723)Ctc>Atc	p.L241I		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GGGCCTTCAACTCTACTACAA	0.398000													26	80					2.61193e-14	3.51359e-14	0.740014	1	0
COL4A6	1288	broad.mit.edu	37	X	107433695	107433695	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:107433695G>A	ENST00000334504.7	-	20	1586	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	COL4A6_ENST00000394872.2_Silent_p.N452N|COL4A6_ENST00000545689.1_Silent_p.N451N|COL4A6_ENST00000538570.1_Silent_p.N451N|COL4A6_ENST00000372216.4_Silent_p.N452N	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	452	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CTGACTCTTTGTTGTGTAGAG	0.428000									Alport syndrome with Diffuse Leiomyomatosis				14	40					0	0	0.539581	0	0
BBS9	27241	broad.mit.edu	37	7	33384242	33384242	+	Missense_Mutation	SNP	T	T	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:33384242T>G	ENST00000242067.6	+	12	1846	c.1325T>G	c.(1324-1326)gTg>gGg	p.V442G	BBS9_ENST00000396127.2_Missense_Mutation_p.V442G|BBS9_ENST00000355070.2_Missense_Mutation_p.V442G|BBS9_ENST00000354265.4_Missense_Mutation_p.V442G|BBS9_ENST00000350941.3_Missense_Mutation_p.V442G	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	442					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TCTGTCACGGTGAAGGTATTG	0.383000									Bardet-Biedl syndrome				36	188					0	0	0.859065	0	0
HOXA3	3200	broad.mit.edu	37	7	27147939	27147939	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:27147939G>T	ENST00000396352.4	-	3	1126	c.927C>A	c.(925-927)ccC>ccA	p.P309P	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Silent_p.P309P	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	309					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GGTAGGAGGCGGGGGGCAGCC	0.706000													5	18					3.59834e-05	3.87878e-05	0.217242	1	0
DCAF8	50717	broad.mit.edu	37	1	160209659	160209659	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:160209659C>A	ENST00000368073.3	-	4	985	c.551G>T	c.(550-552)cGc>cTc	p.R184L	DCAF8_ENST00000326837.2_Missense_Mutation_p.R184L|DCAF8_ENST00000556710.1_Missense_Mutation_p.R338L|DCAF8_ENST00000368074.1_Missense_Mutation_p.R184L|DCAF8_ENST00000461888.1_5'UTR			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	184						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						ATGCTGCAGGCGGAAACGCTG	0.617000													40	48					3.4345e-17	4.93081e-17	0.859065	1	0
WSCD2	9671	broad.mit.edu	37	12	108589637	108589637	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:108589637C>A	ENST00000332082.4	+	3	846	c.28C>A	c.(28-30)Cgg>Agg	p.R10R	WSCD2_ENST00000547525.1_Silent_p.R10R|WSCD2_ENST00000549903.1_Silent_p.R10R|WSCD2_ENST00000261400.3_Silent_p.R10R			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	10						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CAAATTCCAGCGGTACTTCCG	0.577000													49	50					7.50695e-29	1.30015e-28	0.870114	1	0
SUCO	51430	broad.mit.edu	37	1	172571315	172571315	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:172571315A>G	ENST00000367723.3	+	20	3710	c.3586A>G	c.(3586-3588)Att>Gtt	p.I1196V	SUCO_ENST00000486569.1_3'UTR|SUCO_ENST00000263688.3_Missense_Mutation_p.I1044V	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		TGGAGATTATATTTCAAAACT	0.303000													22	41					0	0	0.624587	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136771	40136771	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:40136771C>G	ENST00000278198.2	-	2	3035	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q	LRRC4C_ENST00000527150.1_Missense_Mutation_p.E358Q|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E358Q|LRRC4C_ENST00000530763.1_Missense_Mutation_p.E358Q			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	358	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCAGGGGGCTCCACAATCACC	0.517000													38	25					0	0	0.840704	0	0
FOXG1	2290	broad.mit.edu	37	14	29237504	29237504	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:29237504C>A	ENST00000382535.3	+	2	1388	c.1019C>A	c.(1018-1020)cCc>cAc	p.P340H	FOXG1_ENST00000313071.4_Missense_Mutation_p.P340H			P55316	FOXG1_HUMAN	forkhead box G1	340					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CACCCCATGCCCTACAGCTCC	0.647000													91	260					1.16775e-40	2.23534e-40	0.870114	1	0
ARHGEF12	23365	broad.mit.edu	37	11	120337903	120337903	+	Splice_Site	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:120337903G>C	ENST00000397843.2	+	29	2906	c.2739_splice	c.e29-1	p.D914_splice	ARHGEF12_ENST00000532993.1_Splice_Site_p.D811_splice|ARHGEF12_ENST00000356641.3_Splice_Site_p.D895_splice	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	914	DH.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTAATTTTAGGATGCTGAAAG	0.353000			T	MLL	AML								26	69					0	0	0.740014	0	0
UBR4	23352	broad.mit.edu	37	1	19454222	19454222	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:19454222C>G	ENST00000375267.2	-	63	9126	c.9123G>C	c.(9121-9123)aaG>aaC	p.K3041N	UBR4_ENST00000375254.3_Missense_Mutation_p.K3041N|UBR4_ENST00000375217.2_Missense_Mutation_p.K3034N|UBR4_ENST00000375226.2_Missense_Mutation_p.K3017N			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3041					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCTCATTCTTCTTGGAGACAT	0.488000													22	57					0	0	0.654019	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882079	228882079	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:228882079A>G	ENST00000392056.3	-	7	3537	c.3491T>C	c.(3490-3492)aTg>aCg	p.M1164T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.M1164T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1164						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CGCCTGTTGCATGGCTGAGTT	0.512000													20	37					0	0	0.608945	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573619	140573619	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:140573619G>T	ENST00000239446.4	+	1	1678	c.1494G>T	c.(1492-1494)ctG>ctT	p.L498L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		498	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCGCACCTGCCCCTCGCCT	0.687000													71	130					8.6838e-40	1.64623e-39	0.870114	1	0
KRT83	3889	broad.mit.edu	37	12	52710807	52710807	+	Splice_Site	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:52710807C>G	ENST00000293670.3	-	5	813	c.750_splice	c.e5-1	p.E251_splice		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	251	Coil 1B.|Rod.				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)		ATGCGGATCTCCTGCAGGAGG	0.527000													29	89					0	0	0.729181	0	0
LILRA3	11026	broad.mit.edu	37	19	54802764	54802764	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:54802764G>A	ENST00000391745.1	-	9	1044	c.728C>T	c.(727-729)cCa>cTa	p.P243L	LILRA3_ENST00000391744.3_Missense_Mutation_p.P162L|LILRA3_ENST00000251390.3_Missense_Mutation_p.P226L					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGAGAGTGATGGCTTCTTAGA	0.587000													22	18					0	0	0.667858	0	0
CD34	947	broad.mit.edu	37	1	208070868	208070868	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:208070868G>A	ENST00000356522.4	-	4	888	c.567C>T	c.(565-567)atC>atT	p.I189I	CD34_ENST00000485761.1_5'UTR|CD34_ENST00000310833.7_Silent_p.I189I|CD34_ENST00000537704.1_Silent_p.I54I	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	189					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						GCTCCAGGCAGATGCCCTGAG	0.453000													2	1					0	0	0.150653	0	0
PIK3R4	30849	broad.mit.edu	37	3	130425867	130425867	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:130425867C>A	ENST00000356763.3	-	11	3203	c.2646G>T	c.(2644-2646)gaG>gaT	p.E882D		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	882					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TCTGAATCACCTCCTGATCAC	0.478000													22	11					3.28513e-13	4.30133e-13	0.667858	1	0
IL2RG	3561	broad.mit.edu	37	X	70330844	70330844	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:70330844G>T	ENST00000374202.2	-	2	263	c.172C>A	c.(172-174)Cca>Aca	p.P58T	IL2RG_ENST00000456850.2_Intron	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	58					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	TGAACCTCTGGGAGGGGCAGA	0.488000									Severe Combined Immunodeficiency, X-linked				21	17					2.08468e-23	3.38933e-23	0.608945	1	0
IL7R	3575	broad.mit.edu	37	5	35876378	35876378	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:35876378C>A	ENST00000303115.3	+	8	1299	c.1170C>A	c.(1168-1170)tgC>tgA	p.C390*	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	390					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCCTAGACTGCAGGGAGAGTG	0.542000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						24	86					1.64293e-13	2.17434e-13	0.654019	1	0
ROBO1	6091	broad.mit.edu	37	3	78717674	78717674	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:78717674G>A	ENST00000436010.2	-	10	2470	c.1473C>T	c.(1471-1473)ccC>ccT	p.P491P	ROBO1_ENST00000495273.1_Silent_p.P494P|ROBO1_ENST00000467549.1_Silent_p.P494P|ROBO1_ENST00000464233.1_Silent_p.P530P			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	530	Ig-like C2-type 5.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CTTCACCACTGGGGGTTGATG	0.408000													20	68					0	0	0.667858	0	0
MYH2	4620	broad.mit.edu	37	17	10433008	10433008	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:10433008T>A	ENST00000245503.5	-	24	3374	c.2990A>T	c.(2989-2991)aAg>aTg	p.K997M	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.K997M|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	997					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTGGTCAGCTTAGCAATGGT	0.493000													40	69					0	0	0.870114	0	0
C19orf26	255057	broad.mit.edu	37	19	1235049	1235049	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:1235049C>T	ENST00000590083.1	-	5	698	c.406G>A	c.(406-408)Gag>Aag	p.E136K	C19orf26_ENST00000382477.2_Missense_Mutation_p.E130K|C19orf26_ENST00000215376.6_Missense_Mutation_p.E130K			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	130						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		AGCGCCGCCTCATTGAAGGAG	0.692000										HNSCC(14;0.022)			7	16					0	0	0.387290	0	0
XKR8	55113	broad.mit.edu	37	1	28293446	28293446	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:28293446C>A	ENST00000373884.5	+	3	1531	c.923C>A	c.(922-924)tCc>tAc	p.S308Y		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	308						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		ACTCATAGCTCCTGGCTGCCC	0.637000													37	46					8.48111e-28	1.45602e-27	0.870114	1	0
SRRM2	23524	broad.mit.edu	37	16	2808988	2808988	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:2808988G>T	ENST00000301740.8	+	6	1145	c.596G>T	c.(595-597)aGg>aTg	p.R199M		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	199	Lys-rich.|Ser-rich.|Sufficient for RNA-binding.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ATCTTTAGCAGGTCAGAGAGC	0.453000													11	12					7.03913e-09	8.22907e-09	0.411799	1	0
TRBV7-4	28594	broad.mit.edu	37	7	142176428	142176428	+	RNA	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:142176428C>A	ENST00000390369.2	-	0	247																											TGCAGAGAACCGACCACTGGG	0.572000													40	67					3.54909e-21	5.47988e-21	0.859065	1	0
TG	7038	broad.mit.edu	37	8	133925380	133925380	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:133925380G>T	ENST00000220616.4	+	20	4288	c.4248G>T	c.(4246-4248)acG>acT	p.T1416T	TG_ENST00000377869.1_Silent_p.T1416T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1416					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACTCCAAGACGTTCCCAGCGG	0.542000													15	61					2.31682e-05	2.51673e-05	0.479597	1	0
TRANK1	9881	broad.mit.edu	37	3	36898986	36898986	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:36898986C>A	ENST00000301807.6	-	12	2342	c.445G>T	c.(445-447)Gtt>Ttt	p.V149F	TRANK1_ENST00000428977.2_Missense_Mutation_p.V149F|TRANK1_ENST00000429976.2_Missense_Mutation_p.V699F	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	699					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCCACTTCAACCTGCTGAATC	0.547000													11	11					0.00185496	0.00192759	0.435327	1	0
CNDP1	84735	broad.mit.edu	37	18	72226587	72226587	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:72226587C>A	ENST00000582365.1	+	2	120	c.54C>A	c.(52-54)agC>agA	p.S18R	CNDP1_ENST00000358821.3_Missense_Mutation_p.S61R|CNDP1_ENST00000585136.1_3'UTR			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	61					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CCATCGAGAGCGACTCTGTCC	0.642000													19	82					4.35082e-09	5.11065e-09	0.592651	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144903113	144903113	+	Missense_Mutation	SNP	G	G	A	rs142604413	byFrequency	TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:144903113G>A	ENST00000529945.1	-	17	3707	c.3268C>T	c.(3268-3270)Cgc>Tgc	p.R1090C	PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R714C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R993C|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1064C|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R927C|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R927C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R927C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R927C|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R1064C|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R1090C|PDE4DIP_ENST00000524974.1_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	927					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGTTTAAGCGCTCCAAGCTT	0.542000			T	PDGFRB	MPD								33	213					0	0	0.812448	0	0
PTCHD3	374308	broad.mit.edu	37	10	27703132	27703132	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:27703132G>T	ENST00000438700.3	-	1	165	c.48C>A	c.(46-48)ccC>ccA	p.P16P		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	16					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TGGTGAGCTTGGGCTTCTGCT	0.642000													98	157					4.9962e-64	1.02214e-63	0.870114	1	0
CYP3A7	1551	broad.mit.edu	37	7	99319961	99319961	+	Missense_Mutation	SNP	G	G	C	rs145882034		TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:99319961G>C	ENST00000336374.2	-	3	178	c.176C>G	c.(175-177)aCg>aGg	p.T59R		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	59					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CATGTCAAACGTCCAATAGCC	0.363000													19	89					0	0	0.624587	0	0
USP31	57478	broad.mit.edu	37	16	23080434	23080434	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:23080434C>A	ENST00000219689.7	-	16	2991	c.2992G>T	c.(2992-2994)Gta>Tta	p.V998L	USP31_ENST00000567975.1_Missense_Mutation_p.V291L	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	998	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.V998I(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GAGCTGTCTACGGAGTCGCTC	0.527000													21	38					5.35356e-11	6.5551e-11	0.639603	1	0
DYRK4	8798	broad.mit.edu	37	12	4705384	4705384	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:4705384G>T	ENST00000540757.2	+	5	512	c.352G>T	c.(352-354)Gtg>Ttg	p.V118L	DYRK4_ENST00000010132.5_Missense_Mutation_p.V118L|DYRK4_ENST00000543431.1_Missense_Mutation_p.V118L	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	118	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CTTTGGACAGGTGGCCAAGTG	0.527000													72	43					9.42754e-34	1.71125e-33	0.870114	1	0
GOSR1	9527	broad.mit.edu	37	17	28811258	28811258	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:28811258G>T	ENST00000225724.5	+	3	251	c.179G>T	c.(178-180)gGa>gTa	p.G60V	GOSR1_ENST00000451249.2_Missense_Mutation_p.G58V|GOSR1_ENST00000581721.1_Missense_Mutation_p.G60V|GOSR1_ENST00000467337.2_5'UTR	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	60					intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						CTTTTAAATGGATCAAGCCAA	0.338000													39	108					2.64894e-19	3.98966e-19	0.870114	1	0
CHODL	140578	broad.mit.edu	37	21	19638270	19638270	+	Splice_Site	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr21:19638270G>T	ENST00000299295.2	+	6	1128		c.e6-1		CHODL_ENST00000400128.1_Splice_Site|CHODL_ENST00000400135.1_Splice_Site|CHODL_ENST00000543733.1_Splice_Site|CHODL_ENST00000400127.1_Splice_Site|CHODL_ENST00000400131.1_Splice_Site|CHODL_ENST00000338326.3_Splice_Site	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin						muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		ATGTTTTTCAGTAAAGGAAGA	0.328000													11	45					1.08611e-07	1.24018e-07	0.387290	1	0
MCM6	4175	broad.mit.edu	37	2	136623775	136623775	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:136623775C>A	ENST00000264156.2	-	6	914	c.854G>T	c.(853-855)cGg>cTg	p.R285L		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	285					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	ACCAAGGGCCCGGAGTCCTCG	0.493000													59	75					3.61411e-23	5.84688e-23	0.870114	1	0
SDHAF2	54949	broad.mit.edu	37	11	61205531	61205531	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:61205531G>T	ENST00000301761.2	+	3	390	c.316G>T	c.(316-318)Gac>Tac	p.D106Y	SDHAF2_ENST00000534878.1_Missense_Mutation_p.D106Y|SDHAF2_ENST00000543265.1_Intron|RP11-286N22.8_ENST00000544880.1_3'UTR|RP11-286N22.8_ENST00000543044.1_Missense_Mutation_p.D94Y|SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000537782.1_Missense_Mutation_p.D106Y	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2	106					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						GAACCTCTATGACCGCCTGAT	0.398000													77	126					2.97704e-61	6.0527e-61	0.870114	1	0
CYLC1	1538	broad.mit.edu	37	X	83128909	83128909	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:83128909A>G	ENST00000329312.4	+	4	1230	c.1193A>G	c.(1192-1194)aAg>aGg	p.K398R		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	398					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GACAAGAAAAAGGATGCAAAG	0.338000													5	14					0	0	0.184627	0	0
SGIP1	84251	broad.mit.edu	37	1	67206371	67206371	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:67206371G>T	ENST00000371037.4	+	23	2342	c.2265G>T	c.(2263-2265)aaG>aaT	p.K755N	SGIP1_ENST00000371035.3_Missense_Mutation_p.K545N|SGIP1_ENST00000371036.3_Missense_Mutation_p.K557N|SGIP1_ENST00000371039.1_Missense_Mutation_p.K558N|SGIP1_ENST00000237247.6_Missense_Mutation_p.K786N|SGIP1_ENST00000435165.2_Missense_Mutation_p.K260N	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	755					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	p.K755K(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TATTGTGGAAGATTCCTGATA	0.313000													8	34					0.00829132	0.00850791	0.361761	1	0
RABGAP1L	9910	broad.mit.edu	37	1	174190138	174190138	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:174190138A>T	ENST00000251507.4	+	3	341	c.167A>T	c.(166-168)gAa>gTa	p.E56V	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.E19V	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	56					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GAACAATTGGAAAAAGCCATG	0.363000													21	141					0	0	0.624587	0	0
ALPK2	115701	broad.mit.edu	37	18	56203965	56203965	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:56203965C>A	ENST00000361673.3	-	5	3667	c.3454G>T	c.(3454-3456)Gat>Tat	p.D1152Y	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1152							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGTTGGAAATCAGGTGCAGAA	0.522000													38	110					1.41504e-22	2.25213e-22	0.859065	1	0
RNF149	284996	broad.mit.edu	37	2	101924959	101924959	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:101924959C>A	ENST00000295317.3	-	1	199	c.92G>T	c.(91-93)cGg>cTg	p.R31L		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	31						integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						Agcccggccccgggccccggg	0.716000													30	13					7.63505e-26	1.27946e-25	0.760397	1	0
NLGN1	22871	broad.mit.edu	37	3	173997121	173997121	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:173997121G>A	ENST00000457714.1	+	6	1759	c.1330G>A	c.(1330-1332)Gct>Act	p.A444T	NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Missense_Mutation_p.A484T|NLGN1_ENST00000361589.4_Missense_Mutation_p.A444T|NLGN1_ENST00000545397.1_Missense_Mutation_p.A444T	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	461					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TACTGACTGGGCTGACCGTCA	0.413000													41	32					0	0	0.870114	0	0
GEMIN5	25929	broad.mit.edu	37	5	154300914	154300914	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:154300914G>A	ENST00000285873.7	-	10	1526	c.1451C>T	c.(1450-1452)cCc>cTc	p.P484L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	484					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAGTGACATGGGGGGTACTGG	0.378000													21	59					0	0	0.706142	0	0
DOK6	220164	broad.mit.edu	37	18	67365708	67365708	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:67365708A>T	ENST00000382713.5	+	5	668	c.478A>T	c.(478-480)Act>Tct	p.T160S	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	160	IRS-type PTB.						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)				AATGCAGATCACTCATGAAAA	0.448000													18	77					0	0	0.608945	0	0
GDPD3	79153	broad.mit.edu	37	16	30116204	30116204	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:30116204G>A	ENST00000406256.3	-	10	1323	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	316					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	p.R316W(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						TAGGAGGTCCGGGCAGCTGGT	0.532000													5	37					0	0	0.217242	0	0
UNC79	57578	broad.mit.edu	37	14	94173245	94173245	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:94173245C>A	ENST00000553484.1	+	51	8123	c.7969C>A	c.(7969-7971)Cta>Ata	p.L2657I	UNC79_ENST00000256339.4_Missense_Mutation_p.L2458I|UNC79_ENST00000555664.1_Missense_Mutation_p.L2596I|UNC79_ENST00000393151.2_Missense_Mutation_p.L2635I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2635						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATTTTATCCTCTATGAGTGGA	0.493000													14	60					1.02788e-11	1.28257e-11	0.520397	1	0
PLXDC2	84898	broad.mit.edu	37	10	20568717	20568717	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:20568717A>T	ENST00000377252.3	+	14	2400	c.1559A>T	c.(1558-1560)aAa>aTa	p.K520I	PLXDC2_ENST00000377242.3_Missense_Mutation_p.K471I|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	520						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GTTGGAGAGAAAGAAGGCTTT	0.423000													27	77					0	0	0.788014	0	0
WWP2	11060	broad.mit.edu	37	16	69942663	69942663	+	Splice_Site	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:69942663G>T	ENST00000359154.2	+	9	1015		c.e9-1		WWP2_ENST00000569174.1_Splice_Site|WWP2_ENST00000448661.1_Splice_Site|WWP2_ENST00000542271.1_Splice_Site|WWP2_ENST00000356003.2_Splice_Site|WWP2_ENST00000544162.1_Splice_Site	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2						entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTATTTTTCAGATGGGAACAG	0.502000													26	80					2.65835e-16	3.75071e-16	0.717897	1	0
CEBPE	1053	broad.mit.edu	37	14	23587854	23587854	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:23587854C>A	ENST00000206513.5	-	1	971	c.447G>T	c.(445-447)ggG>ggT	p.G149G		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	149						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TGGCTGTCTGCCCACAGTGTG	0.692000													24	21					2.46105e-21	3.82398e-21	0.750413	1	0
ANKS1B	56899	broad.mit.edu	37	12	100219134	100219134	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:100219134G>T	ENST00000547776.2	-	2	167	c.168C>A	c.(166-168)gaC>gaA	p.D56E	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.D56E	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	56						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AACCCGAACTGTCTGTGCAGT	0.438000													8	21					1.12685e-05	1.23501e-05	0.307466	1	0
GPM6B	2824	broad.mit.edu	37	X	13834964	13834964	+	Splice_Site	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:13834964T>C	ENST00000316715.4	-	1	497	c.61_splice	c.e1+1	p.K20_splice	GPM6B_ENST00000398361.3_Intron|GPM6B_ENST00000356942.5_Splice_Site_p.K20_splice|GPM6B_ENST00000355135.2_Splice_Site_p.K20_splice|GPM6B_ENST00000493677.1_5'UTR|GPM6B_ENST00000454189.2_Intron	NM_001001995.1	NP_001001995.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	20					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						GCTGGGTACCTTTTCTCTCTT	0.468000													3	161					0	0	0.115264	0	0
TUSC5	286753	broad.mit.edu	37	17	1183527	1183527	+	Missense_Mutation	SNP	C	C	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:1183527C>G	ENST00000333813.3	+	1	571	c.232C>G	c.(232-234)Ccc>Gcc	p.P78A		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	78					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCTCGGTCCCCCTCCCGGGC	0.662000													41	14					0	0	0.834066	0	0
DUOX1	53905	broad.mit.edu	37	15	45434248	45434248	+	Missense_Mutation	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr15:45434248A>G	ENST00000321429.4	+	16	2167	c.1760A>G	c.(1759-1761)tAt>tGt	p.Y587C	DUOX1_ENST00000389037.3_Missense_Mutation_p.Y587C|DUOX1_ENST00000561166.1_Missense_Mutation_p.Y233C	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	587	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GTTCGTGACTATTTTGAGGGC	0.587000													5	93					0	0	0.217242	0	0
ELF4	2000	broad.mit.edu	37	X	129200830	129200830	+	Missense_Mutation	SNP	C	C	A	rs148636858	byFrequency	TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:129200830C>A	ENST00000308167.5	-	9	2237	c.1858G>T	c.(1858-1860)Ggc>Tgc	p.G620C	ELF4_ENST00000335997.7_Missense_Mutation_p.G620C	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	620					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GACCCTGAGCCTGAGGAGAGC	0.607000			T	ERG	AML								52	148					9.77497e-20	1.47905e-19	0.870114	1	0
MDN1	23195	broad.mit.edu	37	6	90503886	90503886	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:90503886C>T	ENST00000369393.3	-	4	710	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	MDN1_ENST00000428876.1_Missense_Mutation_p.E199K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	199					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTGTGCTCTTCATTCATACAG	0.333000													16	40					0	0	0.608945	0	0
KMT2D	8085	broad.mit.edu	37	12	49444559	49444559	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:49444559G>C	ENST00000301067.7	-	11	2811	c.2812C>G	c.(2812-2814)Cca>Gca	p.P938A		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGTGAGAGTGGAGGAGGAAGG	0.517000													10	17					0	0	0.387290	0	0
GPRASP1	9737	broad.mit.edu	37	X	101909066	101909066	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:101909066C>A	ENST00000537097.1	+	6	1038	c.225C>A	c.(223-225)cgC>cgA	p.R75R	GPRASP1_ENST00000415986.1_Silent_p.R75R|GPRASP1_ENST00000444152.1_Silent_p.R75R|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Silent_p.R75R	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	75						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTGGGGCACGCCCTAAGAGTA	0.527000													62	171					7.45626e-27	1.26679e-26	0.870114	1	0
FOXI1	2299	broad.mit.edu	37	5	169535415	169535415	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:169535415G>T	ENST00000449804.2	+	2	697	c.652G>T	c.(652-654)Ggg>Tgg	p.G218W	FOXI1_ENST00000306268.6_Missense_Mutation_p.G313W	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	313					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGACAAGACGGGGCAGAACTC	0.617000									Pendred syndrome				17	49					5.35267e-07	6.00036e-07	0.557998	1	0
GPR82	27197	broad.mit.edu	37	X	41586984	41586984	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:41586984G>T	ENST00000302548.4	+	3	945	c.705G>T	c.(703-705)acG>acT	p.T235T	CASK_ENST00000318588.9_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378166.4_Intron	NM_080817.4	NP_543007.1	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	235						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						GAACCTGTACGTCCATTATGG	0.333000													41	44					1.41504e-22	2.25213e-22	0.859065	1	0
TP53	7157	broad.mit.edu	37	17	7578419	7578419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:7578419C>A	ENST00000420246.2	-	5	643	c.511G>T	c.(511-513)Gag>Tag	p.E171*	TP53_ENST00000269305.4_Nonsense_Mutation_p.E171*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E171*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E171*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.E171*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E171*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	171	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (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.E171K(11)|p.E171*(10)|p.0?(8)|p.E171Q(4)|p.E171fs*2(3)|p.E171fs*3(2)|p.E171fs*10(2)|p.V157_C176del20(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.E78fs*2(1)|p.H168fs*3(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.E171_V172delEV(1)|p.E39K(1)|p.E78K(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)		CTCACAACCTCCGTCATGTGC	0.662000		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)			37	25					2.51966e-14	3.39411e-14	0.870114	1	0
KIAA0947	23379	broad.mit.edu	37	5	5463147	5463147	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:5463147G>T	ENST00000296564.7	+	13	3922	c.3700G>T	c.(3700-3702)Gag>Tag	p.E1234*		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1234										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AACCTGTGAAGAGTGGATTGA	0.373000													5	61					3.59834e-05	3.87878e-05	0.217242	1	0
PACRG	135138	broad.mit.edu	37	6	163735987	163735987	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:163735987G>T	ENST00000337019.3	+	7	1083	c.859G>T	c.(859-861)Gtc>Ttc	p.V287F	PACRG_ENST00000366888.2_Missense_Mutation_p.V248F|PACRG_ENST00000366889.2_Missense_Mutation_p.V248F	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	287										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		TAAGTACGTGGTCCCAACCTA	0.507000													46	36					5.47352e-35	9.99071e-35	0.870114	1	0
PLA2G4A	5321	broad.mit.edu	37	1	186908219	186908219	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:186908219G>C	ENST00000367466.3	+	9	927	c.775G>C	c.(775-777)Gtt>Ctt	p.V259L	PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Missense_Mutation_p.V199L	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	259	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	AATGAAAAATGTTAGCCACAA	0.373000													31	103					0	0	0.804634	0	0
RMST	196475	broad.mit.edu	37	12	97885694	97885694	+	RNA	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:97885694C>T	ENST00000538559.2	+	0	953				MIR1251_ENST00000408552.2_RNA																							TATGTGGACTCTAGCTGCCAA	0.473000													17	36					0	0	0.557998	0	0
GSK3B	2932	broad.mit.edu	37	3	119582379	119582379	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:119582379C>A	ENST00000264235.8	-	9	1965	c.983G>T	c.(982-984)cGa>cTa	p.R328L	GSK3B_ENST00000316626.5_Missense_Mutation_p.R341L|GSK3B_ENST00000473886.1_5'UTR	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	328	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TGGTGTTAGTCGGGCAGTTGG	0.488000													38	30					1.67305e-13	2.21121e-13	0.819951	1	0
RARS	5917	broad.mit.edu	37	5	167929031	167929031	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:167929031G>T	ENST00000231572.3	+	9	1032	c.978G>T	c.(976-978)ttG>ttT	p.L326F	RARS_ENST00000538719.1_Missense_Mutation_p.L120F|RARS_ENST00000520421.1_3'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	326					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	p.L326L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		ATGATGCATTGGACGTCTCTT	0.313000													25	65					2.42023e-17	3.48485e-17	0.779181	1	0
DTX3	196403	broad.mit.edu	37	12	58000810	58000810	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:58000810C>T	ENST00000548198.1	+	3	1668	c.164C>T	c.(163-165)tCt>tTt	p.S55F	DTX3_ENST00000551632.1_Missense_Mutation_p.S58F|DTX3_ENST00000548804.1_Missense_Mutation_p.S55F|DTX3_ENST00000337737.3_Missense_Mutation_p.S55F			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	55					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					GGCGAGACTTCTGACATCTAT	0.612000													120	142					0	0	0.870114	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76877699	76877699	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:76877699C>A	ENST00000328299.3	+	3	368	c.220C>A	c.(220-222)Caa>Aaa	p.Q74K	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	74					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TCAGCCTTTGCAACTGGACTG	0.383000													23	93					7.92952e-12	9.93213e-12	0.667858	1	0
NELL2	4753	broad.mit.edu	37	12	45173494	45173494	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:45173494G>T	ENST00000429094.2	-	5	1062	c.558C>A	c.(556-558)ggC>ggA	p.G186G	NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000437801.2_Silent_p.G236G|NELL2_ENST00000333837.4_Silent_p.G209G|NELL2_ENST00000549027.1_Silent_p.G185G|NELL2_ENST00000395487.2_Silent_p.G185G|NELL2_ENST00000452445.2_Silent_p.G186G|NELL2_ENST00000551601.1_Silent_p.G185G	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	186	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AAAATGTTGTGCCTAGAGGCA	0.368000													19	87					5.49717e-05	5.89325e-05	0.654019	1	0
KCNG1	3755	broad.mit.edu	37	20	49620777	49620777	+	Silent	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr20:49620777G>A	ENST00000371571.4	-	3	1626	c.1341C>T	c.(1339-1341)agC>agT	p.S447S	RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	447						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCAGGATGCCGCTCAGGATGC	0.622000													6	191					0	0	0.278610	0	0
EXT1	2131	broad.mit.edu	37	8	118830706	118830706	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:118830706C>A	ENST00000378204.2	-	7	2406	c.1600G>T	c.(1600-1602)Gtg>Ttg	p.V534L		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	534					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			ACGACAGGCACAGCAGTGGCA	0.537000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				41	134					7.41606e-26	1.24488e-25	0.870114	1	0
PPP2R3B	28227	broad.mit.edu	37	X	299402	299402	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:299402T>A	ENST00000390665.3	-	12	1532	c.1514A>T	c.(1513-1515)tAc>tTc	p.Y505F		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	505					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCGGCCGCGTACTTCTCCCA	0.716000													16	20					0	0	0.592651	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128863522	128863522	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:128863522C>A	ENST00000274487.4	+	5	1295	c.1150C>A	c.(1150-1152)Cca>Aca	p.P384T	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	384	Peptidase M12B.				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)		CCATGAAACTCCAGTAAGAAA	0.318000													31	80					1.68508e-10	2.03287e-10	0.847076	1	0
GEMIN4	50628	broad.mit.edu	37	17	650471	650471	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:650471G>A	ENST00000576778.1	-	1	2120	c.779C>T	c.(778-780)aCg>aTg	p.T260M	GEMIN4_ENST00000319004.5_Missense_Mutation_p.T271M|GEMIN4_ENST00000437269.1_Missense_Mutation_p.R184W			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	271					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGAGATCACCGTGGCCAGTTT	0.597000													7	227					0	0	0.278610	0	0
ABCB5	340273	broad.mit.edu	37	7	20762764	20762764	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:20762764C>T	ENST00000404938.2	+	21	3199	c.2547C>T	c.(2545-2547)gcC>gcT	p.A849A	ABCB5_ENST00000258738.6_Silent_p.A404A	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	404					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAGTACTTGCCGTGACAGGAA	0.388000													15	90					0	0	0.520397	0	0
INSRR	3645	broad.mit.edu	37	1	156821891	156821891	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:156821891G>T	ENST00000368195.3	-	3	1126	c.730C>A	c.(730-732)Cgt>Agt	p.R244S	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	244			R -> H (in dbSNP:rs55951840).		protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACACAGGCACGAGGGTCTTCT	0.672000													39	65					4.64027e-19	6.91463e-19	0.870114	1	0
ITGAM	3684	broad.mit.edu	37	16	31309199	31309199	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:31309199G>A	ENST00000544665.3	+	14	1705	c.1634G>A	c.(1633-1635)gGa>gAa	p.G545E	ITGAM_ENST00000287497.8_Missense_Mutation_p.G544E	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	544					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GGGGCCCCAGGAGAGGAGGAC	0.627000													26	74					0	0	0.779181	0	0
PRKAA2	5563	broad.mit.edu	37	1	57158076	57158076	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:57158076G>A	ENST00000371244.4	+	4	442	c.376G>A	c.(376-378)Gct>Act	p.A126T		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	126	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GATTCTGTCTGCTGTGGATTA	0.473000													87	89					0	0	0.870114	0	0
HAP1	9001	broad.mit.edu	37	17	39890458	39890458	+	Silent	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:39890458G>C	ENST00000393939.2	-	1	438	c.429C>G	c.(427-429)tcC>tcG	p.S143S	HAP1_ENST00000347901.4_Silent_p.S143S|HAP1_ENST00000341193.5_Silent_p.S143S|HAP1_ENST00000310778.5_Silent_p.S143S|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	143	HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GCTCAGGGCCGGACACCCCGG	0.701000													8	13					0	0	0.387290	0	0
CYP26B1	56603	broad.mit.edu	37	2	72361975	72361975	+	Missense_Mutation	SNP	T	T	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:72361975T>A	ENST00000001146.2	-	4	979	c.776A>T	c.(775-777)cAg>cTg	p.Q259L	CYP26B1_ENST00000546307.1_Missense_Mutation_p.Q184L|CYP26B1_ENST00000412253.1_Missense_Mutation_p.Q68L	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	259					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GTCCTTGCCCTGTGTGCACTG	0.607000													27	80					0	0	0.750413	0	0
ZNF257	113835	broad.mit.edu	37	19	22271550	22271550	+	Missense_Mutation	SNP	G	G	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:22271550G>C	ENST00000594947.1	+	4	1142	c.998G>C	c.(997-999)cGa>cCa	p.R333P		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R333Q(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCCCTTACTCGACATAAGATG	0.408000													18	51					0	0	0.639603	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874899	80874899	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:80874899C>A	ENST00000466387.1	+	22	3344	c.2620C>A	c.(2620-2622)Cct>Act	p.P874T	CTNNA2_ENST00000541047.1_Missense_Mutation_p.P874T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.P874T|CTNNA2_ENST00000402739.4_Missense_Mutation_p.P922T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.P829T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.P908T|CTNNA2_ENST00000343114.3_Missense_Mutation_p.P553T			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	922					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.P874S(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAGAGAAAAGCCTGAAGAATT	0.458000													89	118					1.79411e-48	3.55922e-48	0.870114	1	0
TRPM2	7226	broad.mit.edu	37	21	45810794	45810794	+	Silent	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr21:45810794G>T	ENST00000397928.1	+	10	1771	c.1326G>T	c.(1324-1326)cgG>cgT	p.R442R	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.R442R|TRPM2_ENST00000397932.2_Silent_p.R442R|TRPM2_ENST00000300481.9_Silent_p.R442R	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	442						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.R442R(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CAGCCTCACGGAGCCAAGACC	0.542000													44	119					1.30916e-28	2.26338e-28	0.870114	1	0
GNAS	2778	broad.mit.edu	37	20	57429241	57429241	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr20:57429241C>A	ENST00000306120.3	+	1	731	c.731C>A	c.(730-732)cCc>cAc	p.P244H	GNAS_ENST00000313949.7_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371100.4_Silent_p.P307P|GNAS_ENST00000371099.2_Silent_p.P307P|GNAS_ENST00000371102.4_Silent_p.P307P|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371075.3_Intron			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TCTCCGGACCCCCGTTCGAGA	0.667000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			9	61					0.000151284	0.000161304	0.435327	1	0
DSCAM	1826	broad.mit.edu	37	21	41539189	41539189	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr21:41539189G>T	ENST00000400454.1	-	16	3451	c.2974C>A	c.(2974-2976)Cac>Aac	p.H992N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	992	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGCTCCAGGTGAACTTCCTGA	0.522000													44	66					8.28887e-21	1.27581e-20	0.870114	1	0
ARHGAP4	393	broad.mit.edu	37	X	153184318	153184318	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:153184318G>A	ENST00000370028.3	-	8	1177	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C	ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R311C|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R313C|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.R334C	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	334					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TAGTCAAAGCGCAGCGGGGGA	0.622000													61	245					0	0	0.870114	0	0
ADAM2	2515	broad.mit.edu	37	8	39624511	39624511	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:39624511G>A	ENST00000265708.4	-	14	1466	c.1363C>T	c.(1363-1365)Cct>Tct	p.P455S	ADAM2_ENST00000379853.2_Missense_Mutation_p.P329S|ADAM2_ENST00000521880.1_Missense_Mutation_p.P455S|ADAM2_ENST00000347580.4_Missense_Mutation_p.P436S	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	455	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CAATATTCAGGGAGGTCGCAT	0.403000													127	120					0	0	0.870114	0	0
ELMO1	9844	broad.mit.edu	37	7	37172827	37172827	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:37172827G>T	ENST00000310758.4	-	14	1746	c.1099C>A	c.(1099-1101)Cct>Act	p.P367T	ELMO1_ENST00000442504.1_Missense_Mutation_p.P367T|ELMO1_ENST00000448602.1_Missense_Mutation_p.P367T|ELMO1_ENST00000341056.3_Missense_Mutation_p.P69T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	367	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCCATGGCAGGGTTGACATGA	0.463000													40	59					4.18559e-23	6.76027e-23	0.870114	1	0
CEP128	145508	broad.mit.edu	37	14	81302668	81302668	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:81302668C>T	ENST00000555265.1	-	12	1313	c.938G>A	c.(937-939)cGt>cAt	p.R313H	CEP128_ENST00000281129.3_Missense_Mutation_p.R313H|CEP128_ENST00000216517.6_Missense_Mutation_p.R313H			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	313						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						AAGTTGTGTACGCAGTTCTTC	0.398000													37	136					0	0	0.870114	0	0
PCDH15	65217	broad.mit.edu	37	10	56287616	56287616	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr10:56287616C>A	ENST00000373965.2	-	3	507	c.113G>T	c.(112-114)gGa>gTa	p.G38V	PCDH15_ENST00000395433.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.G38V|PCDH15_ENST00000395438.1_Missense_Mutation_p.G38V|PCDH15_ENST00000437009.1_Missense_Mutation_p.G38V|RP11-257I14.1_ENST00000422842.1_RNA|PCDH15_ENST00000395432.2_Missense_Mutation_p.G38V|PCDH15_ENST00000361849.3_Missense_Mutation_p.G38V|PCDH15_ENST00000320301.6_Missense_Mutation_p.G38V|PCDH15_ENST00000395446.1_Missense_Mutation_p.G38V|PCDH15_ENST00000395445.1_Missense_Mutation_p.G38V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.G38V|PCDH15_ENST00000395442.1_Missense_Mutation_p.G38V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.G38V|PCDH15_ENST00000414778.1_Missense_Mutation_p.G43V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	38					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGCTGGTGGTCCTCCCCTAGC	0.348000										HNSCC(58;0.16)			25	87					9.04072e-19	1.33906e-18	0.779181	1	0
ABCA12	26154	broad.mit.edu	37	2	215884487	215884487	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:215884487A>T	ENST00000272895.7	-	12	1540	c.1321T>A	c.(1321-1323)Tgt>Agt	p.C441S	ABCA12_ENST00000389661.4_Missense_Mutation_p.C123S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	441					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)		TCAGATTCACAAAGAAGTTCG	0.378000													21	33					0	0	0.681144	0	0
URB2	9816	broad.mit.edu	37	1	229779278	229779278	+	Splice_Site	SNP	A	A	G			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:229779278A>G	ENST00000258243.2	+	5	3770		c.e5-1			NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TTTCCCACACAGATCCTGAAA	0.458000													23	94					0	0	0.639603	0	0
AASS	10157	broad.mit.edu	37	7	121719703	121719703	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:121719703C>A	ENST00000393376.1	-	20	2439	c.2344G>T	c.(2344-2346)Gct>Tct	p.A782S	AASS_ENST00000417368.2_Missense_Mutation_p.A782S|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	782	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	TTAAGAACAGCTTCCTTCAAC	0.423000													39	71					2.43468e-25	4.0318e-25	0.870114	1	0
MCM7	4176	broad.mit.edu	37	7	99696339	99696339	+	Splice_Site	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:99696339C>A	ENST00000303887.5	-	6	1228		c.e6-1		MCM7_ENST00000343023.6_Splice_Site|MCM7_ENST00000354230.3_Splice_Site	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7						cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GAGACTGGATCTAGGATGTGA	0.517000													25	43					1.75199e-13	2.30933e-13	0.717897	1	0
C1QTNF6	114904	broad.mit.edu	37	22	37578450	37578450	+	Silent	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr22:37578450C>A	ENST00000337843.2	-	3	690	c.615G>T	c.(613-615)acG>acT	p.T205T	C1QTNF6_ENST00000470655.1_5'UTR|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000397110.2_Silent_p.T205T|C1QTNF6_ENST00000255836.6_Silent_p.T81T	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	186	C1q.					collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TGTGCACGTACGTCTCCTTGT	0.552000													19	72					5.35267e-07	6.00036e-07	0.557998	1	0
CSMD3	114788	broad.mit.edu	37	8	113267635	113267635	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:113267635C>A	ENST00000297405.5	-	62	10128	c.9884G>T	c.(9883-9885)gGt>gTt	p.G3295V	CSMD3_ENST00000343508.3_Missense_Mutation_p.G3255V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3126V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3225V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3295	Sushi 26.					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						GGCAGGTATACCAGGGTCACC	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	36					4.3838e-07	4.93115e-07	0.435327	1	0
NBEA	26960	broad.mit.edu	37	13	35644115	35644115	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr13:35644115G>T	ENST00000540320.1	+	9	1844	c.1310G>T	c.(1309-1311)gGg>gTg	p.G437V	NBEA_ENST00000379939.2_Missense_Mutation_p.G437V|NBEA_ENST00000310336.4_Missense_Mutation_p.G437V|NBEA_ENST00000400445.3_Missense_Mutation_p.G437V			Q8NFP9	NBEA_HUMAN	neurobeachin	437						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTATATGATGGGAAACTTGCA	0.363000													14	20					9.16793e-09	1.06923e-08	0.520397	1	0
EPHA6	285220	broad.mit.edu	37	3	97167418	97167418	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:97167418G>T	ENST00000389672.5	+	7	1776	c.1738G>T	c.(1738-1740)Gag>Tag	p.E580*	EPHA6_ENST00000502694.1_5'UTR|EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	485						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCAGGAACATGAGCAGCTGAC	0.423000													50	33					8.72158e-25	1.43943e-24	0.870114	1	0
TMEM135	65084	broad.mit.edu	37	11	87013481	87013481	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:87013481C>T	ENST00000340353.7	+	7	831	c.629C>T	c.(628-630)tCa>tTa	p.S210L	TMEM135_ENST00000535167.1_Missense_Mutation_p.S93L|TMEM135_ENST00000532959.1_Missense_Mutation_p.S103L|TMEM135_ENST00000305494.5_Missense_Mutation_p.S232L	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	232						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTGTGGATTCAATGTGAGCT	0.363000													26	151					0	0	0.750413	0	0
LOC283683	283683	broad.mit.edu	37	15	23108766	23108766	+	RNA	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr15:23108766C>A	ENST00000557922.1	-	0	363					NR_040057.1																						TTGCTTGACCCACACCCAGGT	0.403000													2	3					0.0784	0.0792066	0.115264	1	0
CLCA1	1179	broad.mit.edu	37	1	86939171	86939171	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:86939171C>T	ENST00000234701.3	+	3	585	c.234C>T	c.(232-234)gcC>gcT	p.A78A	CLCA1_ENST00000394711.1_Silent_p.A78A			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	78					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AAAATGTTGCCATTTTGATTC	0.373000													31	48					0	0	0.779181	0	0
PCSK4	54760	broad.mit.edu	37	19	1482906	1482906	+	Missense_Mutation	SNP	T	T	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:1482906T>C	ENST00000300954.5	-	13	1746	c.1685A>G	c.(1684-1686)tAt>tGt	p.Y562C		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	562					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CGTGTTGAAATAGTAGCCCTT	0.627000													44	26					0	0	0.870114	0	0
COL4A1	1282	broad.mit.edu	37	13	110814690	110814690	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr13:110814690C>A	ENST00000375820.4	-	48	4470	c.4349G>T	c.(4348-4350)aGg>aTg	p.R1450M	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1450	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TTGACTATGCCTGGTCACAAG	0.552000													59	155					1.7104e-27	2.92615e-27	0.870114	1	0
MAGEA6	4105	broad.mit.edu	37	X	151869939	151869939	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:151869939C>T	ENST00000329342.5	+	3	854	c.629C>T	c.(628-630)gCa>gTa	p.A210V		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	210	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GCCATAATCGCAAAAGAGGGC	0.542000													59	264					0	0	0.870114	0	0
OR2T6	254879	broad.mit.edu	37	1	248551360	248551360	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:248551360G>T	ENST00000355728.2	+	1	451	c.451G>T	c.(451-453)Ggt>Tgt	p.G151C		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G151S(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCTTGGTTCGGTGGGGCTTT	0.557000													19	82					1.28384e-07	1.46256e-07	0.608945	1	0
TAB3	257397	broad.mit.edu	37	X	30873637	30873637	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:30873637C>A	ENST00000378933.1	-	3	322	c.145G>T	c.(145-147)Gag>Tag	p.E49*	TAB3_ENST00000378930.3_Nonsense_Mutation_p.E49*|TAB3_ENST00000288422.2_Nonsense_Mutation_p.E49*|TAB3_ENST00000378932.2_Nonsense_Mutation_p.E49*	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	49	CUE.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TTGCTACTCTCCTGGGAAAGG	0.373000													15	35					4.7546e-09	5.57162e-09	0.500413	1	0
CACNA1E	777	broad.mit.edu	37	1	181702053	181702053	+	Missense_Mutation	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:181702053A>T	ENST00000526775.1	+	19	2939	c.2774A>T	c.(2773-2775)cAg>cTg	p.Q925L	CACNA1E_ENST00000358338.5_Missense_Mutation_p.Q876L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.Q895L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Q925L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Q944L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.Q944L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.Q551L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	944					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCTGCCAGCCAGGAACGCAGT	0.632000													46	163					0	0	0.870114	0	0
ASTL	431705	broad.mit.edu	37	2	96789882	96789882	+	Missense_Mutation	SNP	C	C	T	rs138508296	by1000genomes	TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:96789882C>T	ENST00000342380.2	-	9	1002	c.1003G>A	c.(1003-1005)Gtt>Att	p.V335I		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	335					proteolysis		metalloendopeptidase activity|zinc ion binding	p.V335F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCTGCAGGAACGGGCTGGCCT	0.672000													7	46					0	0	0.278610	0	0
CELSR2	1952	broad.mit.edu	37	1	109813154	109813154	+	Missense_Mutation	SNP	G	G	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:109813154G>A	ENST00000271332.3	+	24	7476	c.7415G>A	c.(7414-7416)cGc>cAc	p.R2472H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2472					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ACTGAGGTGCGCGATGTCAAC	0.607000													33	105					0	0	0.760397	0	0
GTF2E1	2960	broad.mit.edu	37	3	120469411	120469411	+	Silent	SNP	A	A	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:120469411A>T	ENST00000283875.5	+	2	105	c.12A>T	c.(10-12)ccA>ccT	p.P4P		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	4					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		TGGCAGACCCAGATGTCCTCA	0.413000													95	50					0	0	0.870114	0	0
CSMD3	114788	broad.mit.edu	37	8	113304806	113304806	+	Silent	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:113304806C>T	ENST00000297405.5	-	55	8992	c.8748G>A	c.(8746-8748)caG>caA	p.Q2916Q	CSMD3_ENST00000343508.3_Silent_p.Q2876Q|CSMD3_ENST00000455883.2_Silent_p.Q2747Q|CSMD3_ENST00000352409.3_Silent_p.Q2846Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2916	Sushi 19.					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						GTCTGTTGGCCTGGCACTGTG	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			87	100					0	0	0.870114	0	0
HECW1	23072	broad.mit.edu	37	7	43506153	43506153	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:43506153C>A	ENST00000395891.1	+	15	3504	c.2899C>A	c.(2899-2901)Cta>Ata	p.L967I	HECW1_ENST00000453890.1_Missense_Mutation_p.L933I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	967					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTTCACTGTGCTACATGCCAA	0.493000													60	101					1.77791e-30	3.14579e-30	0.870114	1	0
PCDH20	64881	broad.mit.edu	37	13	61987586	61987586	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr13:61987586C>A	ENST00000409186.1	-	5	2751	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	PCDH20_ENST00000409204.4_Missense_Mutation_p.V216L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	189	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGGACCCACACCGAGATCTGG	0.527000													48	88					3.14146e-11	3.86581e-11	0.870114	1	0
ZNF554	115196	broad.mit.edu	37	19	2827645	2827645	+	Missense_Mutation	SNP	G	G	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr19:2827645G>T	ENST00000317243.5	+	3	355	c.157G>T	c.(157-159)Gac>Tac	p.D53Y	ZNF554_ENST00000591265.1_Missense_Mutation_p.D53Y	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		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)		CGTGTCCATGGACTTCTCCCA	0.537000													52	23					2.89935e-36	5.36189e-36	0.870114	1	0
TYW1B	441250	broad.mit.edu	37	7	72209576	72209576	+	RNA	SNP	C	C	G	rs147711959	by1000genomes	TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:72209576C>G	ENST00000438125.1	-	0	579							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										CTCGGAGCATCGACTATGACA	0.413000													4	97					0	0	0.217242	0	0
OR51I2	390064	broad.mit.edu	37	11	5475196	5475196	+	Missense_Mutation	SNP	C	C	A			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:5475196C>A	ENST00000341449.2	+	1	559	c.478C>A	c.(478-480)Ccc>Acc	p.P160T	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P160S(2)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCCCTCTTCCCTTTCTTAT	0.498000													31	47					1.06801e-11	1.32758e-11	0.740014	1	0
FAM69C	125704	broad.mit.edu	37	18	72109307	72109307	+	Missense_Mutation	SNP	C	C	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:72109307C>T	ENST00000343998.6	-	3	929	c.921G>A	c.(919-921)atG>atA	p.M307I	FAM69C_ENST00000400291.2_Missense_Mutation_p.M8I	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	307						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(2)|ovary(2)	5						GGATTTCCCTCATTTTAGGTT	0.458000													15	44					0	0	0.592651	0	0
PPFIA4	8497	broad.mit.edu	37	1	203044809	203044809	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:203044809delC	ENST00000367240.2	+	28	3962	c.3435delC	c.(3433-3435)ctfs	p.L1145fs	PPFIA4_ENST00000599966.1_Frame_Shift_Del_p.L651fs|PPFIA4_ENST00000272198.6_Frame_Shift_Del_p.L660fs|PPFIA4_ENST00000295706.4_Frame_Shift_Del_p.L651fs|PPFIA4_ENST00000414050.2_Frame_Shift_Del_p.L873fs|PPFIA4_ENST00000447715.2_Frame_Shift_Del_p.L1144fs			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	660					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CGGAGACCCTCCCGGCGGGCT	0.697													11	3	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	216052424	216052424	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr1:216052424delG	ENST00000366943.2	-	42	8626	c.8240delC	c.(8239-8241)cafs	p.P2747fs	USH2A_ENST00000307340.3_Frame_Shift_Del_p.P2747fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2747	Fibronectin type-III 14.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGGATGAGTGGGGGTTTCCA	0.413										HNSCC(13;0.011)			19	156	---	---	---	---					
CHRNA1	1134	broad.mit.edu	37	2	175613379	175613380	+	Frame_Shift_Ins	INS	-	-	G	rs141280544	byFrequency	TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr2:175613379_175613380insG	ENST00000348749.5	-	8	1247_1248	c.1170_1171insC	c.(1168-1173)ccaggtfs	p.G391fs	CHRNA1_ENST00000261007.5_Frame_Shift_Ins_p.G416fs|CHRNA1_ENST00000409542.1_Frame_Shift_Ins_p.G309fs|CHRNA1_ENST00000409219.1_Intron|AC018890.6_ENST00000442996.1_RNA	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	416					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CTTTTCACCTCGGGGTGTTTGA	0.470											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	94	---	---	---	---					
PBX2P1	5088	broad.mit.edu	37	3	142896333	142896333	+	RNA	DEL	G	G	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr3:142896333delG	ENST00000560287.1	+	0	1207																											GGATAACCTCGGGGGAGGCCA	0.612													24	61	---	---	---	---					
KIAA1211	57482	broad.mit.edu	37	4	57182012	57182012	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:57182012delC	ENST00000504228.1	+	6	2449	c.2344delC	c.(2344-2346)ccfs	p.P782fs	KIAA1211_ENST00000264229.6_Frame_Shift_Del_p.P782fs|KIAA1211_ENST00000541073.1_Frame_Shift_Del_p.P775fs			Q6ZU35	K1211_HUMAN	KIAA1211	782										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCACCGGGAGCCCGCAGACAC	0.622													72	57	---	---	---	---					
DSPP	1834	broad.mit.edu	37	4	88532083	88532083	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr4:88532083delG	ENST00000399271.1	+	2	143	c.23delG	c.(22-24)tcfs	p.C8fs	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Frame_Shift_Del_p.C8fs	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	8					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		ACATATTTTTGCATTTGGGCA	0.289													72	74	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	32098552	32098552	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr5:32098552delC	ENST00000438447.1	+	23	8418	c.8030delC	c.(8029-8031)gcfs	p.A2677fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.A2677fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	2677	PDZ 5.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTCAACGGCGCCTCACTGGCT	0.562													25	70	---	---	---	---					
FAM8A1	51439	broad.mit.edu	37	6	17601135	17601136	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr6:17601135_17601136insC	ENST00000259963.3	+	1	550_551	c.495_496insC	c.(493-498)ccccccfs	p.PP165fs		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	165	Poly-Pro.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			cggcgccgccgcccccgcAGCT	0.743													4	4	---	---	---	---					
C7orf57	136288	broad.mit.edu	37	7	48089565	48089566	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:48089565_48089566insC	ENST00000348904.3	+	6	808_809	c.596_597insC	c.(595-597)tccfs	p.S199fs	C7orf57_ENST00000430738.1_Frame_Shift_Ins_p.S244fs|C7orf57_ENST00000420324.1_Frame_Shift_Ins_p.S244fs|C7orf57_ENST00000435376.1_Frame_Shift_Ins_p.S77fs|C7orf57_ENST00000539619.1_Frame_Shift_Ins_p.S199fs	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	199										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						AGACTCTCCTTCCCCCCCGTGT	0.550													33	67	---	---	---	---					
PLXNA4	91584	broad.mit.edu	37	7	131831277	131831277	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:131831277delC	ENST00000359827.3	-	28	6009	c.5047delG	c.(5047-5049)ccfs	p.A1683fs	PLXNA4_ENST00000321063.4_Frame_Shift_Del_p.A1683fs			Q9HCM2	PLXA4_HUMAN	plexin A4	1683						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACCTTAGTGGCCAGGAGTCGG	0.567													264	574	---	---	---	---					
TAS2R3	50831	broad.mit.edu	37	7	141464705	141464712	+	Frame_Shift_Del	DEL	TTTCTTAA	TTTCTTAA	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr7:141464705_141464712delTTTCTTAA	ENST00000247879.2	+	1	809_816	c.747_754delTTTCTTAA	c.(745-756)gcttfs	p.AFLI249fs	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	249					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					actttcttgctttcttAATTGCATCATT	0.399													39	58	---	---	---	---					
C8orf74	203076	broad.mit.edu	37	8	10555212	10555212	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:10555212delC	ENST00000304519.5	+	3	374	c.345delC	c.(343-345)cafs	p.H116fs	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	116										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		ACTACTTCCACCACACCTTCA	0.582													72	129	---	---	---	---					
ST18	9705	broad.mit.edu	37	8	53038662	53038662	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:53038662delT	ENST00000276480.7	-	23	3388	c.2705delA	c.(2704-2706)agfs	p.K902fs		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	902						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AACCTTGCCCTTTTTGATAAC	0.403													89	120	---	---	---	---					
CNGB3	54714	broad.mit.edu	37	8	87591456	87591457	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:87591456_87591457insT	ENST00000320005.5	-	16	1852_1853	c.1805_1806insA	c.(1804-1806)acgfs	p.T602fs		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	602					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CAGTTCGACGGTTTCCTCCTCC	0.421													165	229	---	---	---	---					
TMEM55A	55529	broad.mit.edu	37	8	92008043	92008044	+	Frame_Shift_Ins	INS	-	-	A	rs73694351	byFrequency	TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:92008043_92008044insA	ENST00000285419.3	-	7	949_950	c.635_636insT	c.(634-636)gacfs	p.D212fs		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	212						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			AATCTGGGGTGCCAACCTAAAA	0.356													11	51	---	---	---	---					
KIAA1429	25962	broad.mit.edu	37	8	95531518	95531519	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:95531518_95531519delAC	ENST00000297591.5	-	9	2282_2283	c.2207_2208delGT	c.(2206-2208)tfs	p.C736fs	KIAA1429_ENST00000437199.1_Frame_Shift_Del_p.C736fs|KIAA1429_ENST00000421249.2_Frame_Shift_Del_p.C736fs	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	736					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CATAAAAGTGACACAGAGCTCG	0.396													27	52	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113402990	113402990	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:113402990delC	ENST00000297405.5	-	36	6081	c.5837delG	c.(5836-5838)ccfs	p.R1946fs	CSMD3_ENST00000455883.2_Frame_Shift_Del_p.R1842fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.R1876fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.R1906fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1946	CUB 11.					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						AGTCCCTTTGCGCTTAGTTAA	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	59	---	---	---	---					
GSDMC	56169	broad.mit.edu	37	8	130765064	130765065	+	Splice_Site	DEL	AC	AC	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr8:130765064_130765065delAC	ENST00000276708.4	-	7	1604_1605	c.721_splice	c.e7-1	p.EY241_splice		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	241						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						gaaatttcgtactcttgggaga	0.490													23	109	---	---	---	---					
BCO2	83875	broad.mit.edu	37	11	112050148	112050148	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr11:112050148delG	ENST00000357685.5	+	2	371	c.236delG	c.(235-237)tgfs	p.W79fs	BCO2_ENST00000532593.1_Intron|BCO2_ENST00000393032.2_Frame_Shift_Del_p.W45fs|BCO2_ENST00000361053.4_Frame_Shift_Del_p.W79fs|BCO2_ENST00000526088.1_Frame_Shift_Del_p.W45fs|BCO2_ENST00000531169.1_Frame_Shift_Del_p.W45fs|SDHD_ENST00000532612.1_3'UTR|SDHD_ENST00000532699.1_Intron|BCO2_ENST00000438022.1_Frame_Shift_Del_p.W45fs			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	79					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TTTCCTAAGTGGCTCAATGGC	0.522													32	139	---	---	---	---					
LUM	4060	broad.mit.edu	37	12	91501954	91501954	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:91501954delT	ENST00000266718.4	-	2	1257	c.803delA	c.(802-804)acfs	p.N268fs	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	268					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						AGTTGGTATGTTTTTAAGCTT	0.393													40	119	---	---	---	---					
UBC	7316	broad.mit.edu	37	12	125396436	125396437	+	Frame_Shift_Ins	INS	-	-	G	rs7959	byFrequency	TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr12:125396436_125396437insG	ENST00000536769.1	-	1	3457_3458	c.1881_1882insC	c.(1879-1884)ccgtgafs	p.*628fs	UBC_ENST00000546120.1_Frame_Shift_Ins_p.*552fs|UBC_ENST00000538617.1_Frame_Shift_Ins_p.*248fs|UBC_ENST00000339647.5_Frame_Shift_Ins_p.*628fs			P0CG48	UBC_HUMAN	ubiquitin C	628	Ubiquitin-like 9.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		ATGGTGTCACTGGGCTCCACCT	0.530													102	301	---	---	---	---					
INSM2	84684	broad.mit.edu	37	14	36004331	36004331	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:36004331delC	ENST00000307169.3	+	1	1084	c.873delC	c.(871-873)tafs	p.Y291fs		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GCGTAGAGTACCGCTGCCCTG	0.667													29	46	---	---	---	---					
RP11-305B6.3	0	broad.mit.edu	37	14	44589464	44589464	+	RNA	DEL	T	T	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:44589464delT	ENST00000553827.1	-	0	69																											TTTTTGCATCTTTTTTGTTTT	0.348													66	88	---	---	---	---					
FAM179B	23116	broad.mit.edu	37	14	45468634	45468634	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr14:45468634delG	ENST00000361462.2	+	3	2455	c.2272delG	c.(2272-2274)gtfs	p.G758fs	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361577.3_Frame_Shift_Del_p.G758fs|FAM179B_ENST00000382233.2_Frame_Shift_Del_p.G758fs			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	758							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ACAAATATGTGGTAAAACTGG	0.368													36	135	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23331163	23331163	+	RNA	DEL	A	A	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr15:23331163delA	ENST00000560464.1	-	0	908																											AATAAATACTAAAAAAAAAAA	0.368													3	6	---	---	---	---					
SRL	6345	broad.mit.edu	37	16	4242719	4242719	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:4242719delG	ENST00000399609.3	-	6	869	c.857delC	c.(856-858)cafs	p.P286fs	SRL_ENST00000537996.1_Frame_Shift_Del_p.P244fs	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	745	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GTAAACCCTTGGGGGCTCTGT	0.537													22	58	---	---	---	---					
ACSM2A	123876	broad.mit.edu	37	16	20480976	20480976	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:20480976delG	ENST00000573854.1	+	4	645	c.531delG	c.(529-531)ctfs	p.L177fs	ACSM2A_ENST00000396104.2_Frame_Shift_Del_p.L177fs|ACSM2A_ENST00000424070.1_Frame_Shift_Del_p.L177fs|ACSM2A_ENST00000219054.6_Frame_Shift_Del_p.L177fs|ACSM2A_ENST00000417235.2_Frame_Shift_Del_p.L98fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Frame_Shift_Del_p.L177fs|ACSM2A_ENST00000536134.1_5'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	177					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GTCCTTCTCTGAGAATTAAGC	0.438													98	233	---	---	---	---					
SLC6A10P	386757	broad.mit.edu	37	16	32891998	32891998	+	RNA	DEL	G	G	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr16:32891998delG	ENST00000330048.5	-	0	2801					NR_003083.2																						acgggtggcagggcagCAGTG	0.612													14	22	---	---	---	---					
TBX21	30009	broad.mit.edu	37	17	45822296	45822296	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:45822296delG	ENST00000177694.1	+	6	1383	c.1172delG	c.(1171-1173)cgfs	p.R391fs		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	391					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGGGCCCCCCGGGACCACAGC	0.627													57	100	---	---	---	---					
MAP3K3	4215	broad.mit.edu	37	17	61769181	61769181	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr17:61769181delC	ENST00000361357.3	+	15	1844	c.1526delC	c.(1525-1527)tcfs	p.S509fs	MAP3K3_ENST00000579585.1_Frame_Shift_Del_p.S509fs|MAP3K3_ENST00000577395.1_Frame_Shift_Del_p.S474fs|MAP3K3_ENST00000361733.3_Frame_Shift_Del_p.S478fs|MAP3K3_ENST00000584573.1_Frame_Shift_Del_p.S505fs	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	478	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GAGGGCATGTCCTACCTGCAC	0.562													187	366	---	---	---	---					
APCDD1	147495	broad.mit.edu	37	18	10487958	10487958	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:10487958delG	ENST00000355285.4	+	5	1822	c.1468delG	c.(1468-1470)ggfs	p.G490fs		NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	490					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		CCGGGCCCCTGGGAGGCACAC	0.577													80	152	---	---	---	---					
CABLES1	91768	broad.mit.edu	37	18	20716015	20716023	+	In_Frame_Del	DEL	GGCGCCGGC	GGCGCCGGC	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:20716015_20716023delGGCGCCGGC	ENST00000256925.7	+	1	289_297	c.289_297delGGCGCCGGC	c.(289-297)del	p.GAG97del	CABLES1_ENST00000400473.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	97	Ala-rich.|Interacts with TDRD7 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ggccaagccgggcgccggcggcgcctgcg	0.785													4	4	---	---	---	---					
SERPINB10	5273	broad.mit.edu	37	18	61602220	61602220	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr18:61602220delA	ENST00000238508.3	+	8	997	c.938delA	c.(937-939)gtfs	p.D313fs	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GGGATGAGTGATGCCTTCAGC	0.418													31	41	---	---	---	---					
OR11H1	81061	broad.mit.edu	37	22	16449080	16449080	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chr22:16449080delC	ENST00000252835.4	-	1	725	c.725delG	c.(724-726)gtfs	p.G242fs		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		TGAAGGCATACCCAACATAGC	0.413													7	253	---	---	---	---					
ARHGAP36	158763	broad.mit.edu	37	X	130217914	130217914	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:130217914delC	ENST00000276211.5	+	4	871	c.526delC	c.(526-528)ccfs	p.P176fs	ARHGAP36_ENST00000370921.1_Frame_Shift_Del_p.P40fs|ARHGAP36_ENST00000370922.1_Frame_Shift_Del_p.P164fs	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	176	Arg-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCCCACCTTGCCCCGGGAGTT	0.642													22	26	---	---	---	---					
RP11-308D16.4	0	broad.mit.edu	37	X	135999124	135999129	+	RNA	DEL	TCTTCT	TCTTCT	-			TCGA-44-8117-01A-11D-2238-08	TCGA-44-8117-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acf9ad62-7e55-4d32-8a5d-3e62d21727c2	ea388611-4d11-4fc7-bb28-7715b17987f7	g.chrX:135999124_135999129delTCTTCT	ENST00000424306.1	+	0	386																											ctcctcttcctcttcttcctcttcct	0.505													2	4	---	---	---	---					
