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
ARFGEF1	10565	broad.mit.edu	37	8	68113762	68113762	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:68113762C>T	ENST00000262215.3	-	37	5596	c.5207G>A	c.(5206-5208)cGg>cAg	p.R1736Q	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.R574Q|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R1190Q|ARFGEF1_ENST00000517955.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1736					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CATGTACATCCGGAAGAGAAT	0.527000													8	72					0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41476673	41476673	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:41476673A>T	ENST00000314992.5	-	10	1191	c.1001T>A	c.(1000-1002)gTg>gAg	p.V334E	EXD1_ENST00000458580.2_Missense_Mutation_p.V392E	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	334					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TGGCTGTAGCACTGTCCTTAT	0.443000													24	88					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125432363	125432363	+	Silent	SNP	G	G	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:125432363G>C	ENST00000308736.2	-	27	3557	c.3459C>G	c.(3457-3459)ccC>ccG	p.P1153P	DHX37_ENST00000544745.1_3'UTR	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1153				YLLAEYCEWLPQAMHPDIEKAWPPTTVH -> CEFDQGQGV GVDRMGSLRQGLCALCTVSPGLAEGSGPTAAGQLFAT (in Ref. 2).			ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGACAGTGGTGGGGGGCCAGG	0.637000													4	24					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49218742	49218742	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:49218742C>T	ENST00000327979.2	-	13	1925	c.1514G>A	c.(1513-1515)aGa>aAa	p.R505K	FAM65C_ENST00000045083.2_Missense_Mutation_p.R505K|FAM65C_ENST00000535356.1_Missense_Mutation_p.R509K			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	505										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCGTCCTCTCTGTCCCCGGT	0.697000													6	59					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805146	54805146	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:54805146G>A	ENST00000306858.7	+	5	1493	c.1377G>A	c.(1375-1377)agG>agA	p.R459R		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	459										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGCAGACAGGAATTCAAATG	0.458000													10	60					0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41730107	41730107	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:41730107G>A	ENST00000242208.4	-	3	668	c.422C>T	c.(421-423)tCc>tTc	p.S141F	INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.S141F	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	141					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			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						GCCTTCCTTGGAAATCTCGAA	0.507000										TSP Lung(11;0.080)			7	35					0	0	1	0	0
GALNS	2588	broad.mit.edu	37	16	88902635	88902635	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:88902635C>T	ENST00000268695.5	-	6	695	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	GALNS_ENST00000542788.1_Missense_Mutation_p.A128T	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	203			A -> V (in MPS4A).			lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GTGAGGTTGGCTTCCCCCGTC	0.527000													7	22					0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42824540	42824540	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:42824540C>T	ENST00000315005.3	+	11	1058	c.920C>T	c.(919-921)gCc>gTc	p.A307V	DBF4B_ENST00000393547.2_Missense_Mutation_p.A307V	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	307					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TGTCAGGAGGCCTTCGAGGAG	0.607000													28	66					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344598	20344598	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr14:20344598C>T	ENST00000298642.2	+	1	208	c.172C>T	c.(172-174)Cct>Tct	p.P58S		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTACACTCTCCTATGTATTT	0.398000													27	309					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43888905	43888905	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:43888905C>T	ENST00000562955.1	+	15	2173	c.2173C>T	c.(2173-2175)Ccc>Tcc	p.P725S	SZT2_ENST00000372442.1_5'UTR	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	725						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						CAAGTCACCCCCCGTGCTGGG	0.627000													9	49					0	0	1	0	0
CYBB	1536	broad.mit.edu	37	X	37664330	37664330	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:37664330G>A	ENST00000378588.4	+	10	1290	c.1223G>A	c.(1222-1224)gGa>gAa	p.G408E	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.G376E|CYBB_ENST00000536160.1_Missense_Mutation_p.G141E	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	408			G -> E (in XCGD).|G -> R (in XCGD).		electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						ATGTTAGTGGGAGCAGGGATT	0.488000													15	43					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	89					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154194718	154194718	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:154194718G>A	ENST00000360256.4	-	8	1454	c.1254C>T	c.(1252-1254)gtC>gtT	p.V418V	F8_ENST00000483822.1_5'UTR	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	418	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CGGGGGCGAGGACTAAGGGAG	0.438000													7	31					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44178146	44178146	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:44178146C>T	ENST00000262726.7	-	3	306	c.53G>A	c.(52-54)cGa>cAa	p.R18Q	EFCAB6_ENST00000356087.4_5'UTR|EFCAB6_ENST00000396231.2_Intron|EFCAB6_ENST00000358439.4_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGTAAATTTTCGTGTGTGAGG	0.378000													39	64					0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55421422	55421422	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:55421422C>T	ENST00000594765.1	+	5	704	c.679C>T	c.(679-681)Cct>Tct	p.P227S	NCR1_ENST00000357397.5_Missense_Mutation_p.P120S|NCR1_ENST00000447255.1_Missense_Mutation_p.P227S|NCR1_ENST00000598576.1_Missense_Mutation_p.P215S|NCR1_ENST00000338835.5_Missense_Mutation_p.P227S|NCR1_ENST00000350790.5_Missense_Mutation_p.P132S|NCR1_ENST00000291890.4_Missense_Mutation_p.P227S			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	227					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CCCCACCTTTCCTGGTGAGTA	0.478000													30	168					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69933965	69933965	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:69933965G>A	ENST00000355303.5	+	2	521	c.216G>A	c.(214-216)agG>agA	p.R72R	ANO1_ENST00000316296.5_Silent_p.R44R|ANO1_ENST00000398543.2_5'UTR|ANO1_ENST00000538023.1_Silent_p.R72R|ANO1_ENST00000530676.1_5'UTR	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	72					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						ATCACAAGAGGCCCTCGGGCA	0.647000													9	29					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100264083	100264083	+	RNA	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:100264083C>T	ENST00000510055.1	-	0	871				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AACTCTTTAGCCTTTGCAAAT	0.478000													45	386					0	0	1	0	0
FUT11	170384	broad.mit.edu	37	10	75532996	75532996	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:75532996C>T	ENST00000372841.3	+	2	800	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	FUT11_ENST00000394790.1_Missense_Mutation_p.R253W|FUT11_ENST00000465695.1_3'UTR	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	253					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					GCCTACCGCGCGGCTACAGGA	0.587000													21	60					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139904055	139904055	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:139904055G>A	ENST00000265662.5	-	44	6819	c.6672C>T	c.(6670-6672)ttC>ttT	p.F2224F	ABCA2_ENST00000371605.3_Silent_p.F2223F|ABCA2_ENST00000341511.6_Silent_p.F2224F			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2223	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGTTCCAGAGGAAGCGCCGGG	0.662000													14	68					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68654004	68654004	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:68654004G>A	ENST00000423218.2	-	5	491	c.396C>T	c.(394-396)tcC>tcT	p.S132S	ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000315757.7_Silent_p.S132S			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	132					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TGGTGTAGTAGGAGCTCCCAC	0.567000													3	14					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123512606	123512606	+	Missense_Mutation	SNP	G	G	A	rs141974889		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:123512606G>A	ENST00000360772.3	-	5	461	c.83C>T	c.(82-84)cCc>cTc	p.P28L	MYLK_ENST00000360304.3_Missense_Mutation_p.P28L|MYLK_ENST00000475616.1_Missense_Mutation_p.P28L|MYLK_ENST00000346322.5_Missense_Mutation_p.P28L|MYLK_ENST00000359169.1_Missense_Mutation_p.P28L			Q15746	MYLK_HUMAN	myosin light chain kinase	28					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)		CTCTGTCAGGGGCATGGAGTC	0.552000													8	44					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51882514	51882514	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:51882514A>T	ENST00000453097.2	+	18	2535	c.2318A>T	c.(2317-2319)aAt>aTt	p.N773I	SLC4A8_ENST00000358657.3_Missense_Mutation_p.N800I	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	773					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGGATTATTAATCCCATTGGC	0.408000													13	96					0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24231674	24231674	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:24231674G>A	ENST00000396671.2	-	5	522	c.174C>T	c.(172-174)ctC>ctT	p.L58L	THRB_ENST00000416420.1_Silent_p.L58L|THRB_ENST00000356447.4_Silent_p.L58L	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	58	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGTCTGGATGAGATGTGGCG	0.498000													21	95					0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217124388	217124388	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:217124388C>T	ENST00000273067.4	-	4	2646	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	294						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GAGGGTCCTTCATGGATGATG	0.517000													5	34					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175068	57175068	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:57175068G>A	ENST00000537055.2	-	2	1730	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AAGGCGTCCCGAACTGTCTGC	0.642000													55	236					0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56605224	56605224	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:56605224T>C	ENST00000394672.3	+	7	900	c.830T>C	c.(829-831)tTa>tCa	p.L277S	CCDC66_ENST00000326595.7_Missense_Mutation_p.L243S|CCDC66_ENST00000436465.2_Missense_Mutation_p.L277S	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	277										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CAGGTTGCTTTAAAGAAGAAA	0.279000													7	46					0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4647090	4647090	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:4647090C>G	ENST00000433935.1	+	7	1383	c.1326C>G	c.(1324-1326)gaC>gaG	p.D442E	ZMYND15_ENST00000592813.1_Missense_Mutation_p.D442E|ZMYND15_ENST00000573751.2_Missense_Mutation_p.D442E|ZMYND15_ENST00000269289.6_Missense_Mutation_p.D442E	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	442							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						TCCAGGGAGACGGGACTGCCC	0.632000													9	39					0	0	1	0	0
SNX15	29907	broad.mit.edu	37	11	64802570	64802570	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:64802570C>T	ENST00000377244.3	+	5	542	c.412C>T	c.(412-414)Cta>Tta	p.L138L	SNX15_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	138					cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						GTCCAGGGACCTACACATCCT	0.622000													4	32					0	0	1	0	0
ZNF688	146542	broad.mit.edu	37	16	30581396	30581396	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:30581396G>A	ENST00000223459.6	-	3	1776	c.672C>T	c.(670-672)ttC>ttT	p.F224F	ZNF688_ENST00000395219.1_Silent_p.F210F	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CTTCCACTGCGAACTTCCTCT	0.706000													11	22					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18631203	18631203	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:18631203G>A	ENST00000406451.3	+	5	621	c.471G>A	c.(469-471)acG>acA	p.T157T	HDAC9_ENST00000401921.1_Silent_p.T160T|HDAC9_ENST00000417496.2_Silent_p.T199T|HDAC9_ENST00000432645.2_Silent_p.T157T|HDAC9_ENST00000405010.3_Silent_p.T157T|HDAC9_ENST00000524023.1_Silent_p.T126T|HDAC9_ENST00000428307.2_Silent_p.T157T|HDAC9_ENST00000456174.2_Silent_p.T129T|HDAC9_ENST00000406072.1_Silent_p.T188T|HDAC9_ENST00000441542.2_Silent_p.T160T	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	157					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AATCAGCAACGAAAGACACTC	0.453000													6	18					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382583	22382583	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:22382583C>T	ENST00000328795.4	+	1	202	c.111C>T	c.(109-111)atC>atT	p.I37I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTACCTTATCATCCTCCCTG	0.433000													38	287					0	0	1	0	0
IGLL5	100423062	broad.mit.edu	37	22	23237605	23237605	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:23237605G>A	ENST00000532223.1	+	3	653	c.379G>A	c.(379-381)Gag>Aag	p.E127K	IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR|IGLL5_ENST00000526893.1_Missense_Mutation_p.E126K			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	126	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CTCCTCTGAGGAGCTCCAAGC	0.612000													16	21					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65928106	65928106	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:65928106T>G	ENST00000321892.4	+	20	6669	c.6608T>G	c.(6607-6609)aTt>aGt	p.I2203S	BPTF_ENST00000335221.5_Missense_Mutation_p.I2203S|BPTF_ENST00000424123.3_Missense_Mutation_p.I2064S|BPTF_ENST00000306378.6_Missense_Mutation_p.I2077S			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2203					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)			GGAAAGGCAATTATTCGAACA	0.418000													25	56					0	0	1	0	0
MAP7D1	55700	broad.mit.edu	37	1	36638148	36638148	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:36638148C>T	ENST00000316156.4	+	4	997	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	MAP7D1_ENST00000373150.4_Silent_p.L182L|MAP7D1_ENST00000373151.2_Silent_p.L182L|MAP7D1_ENST00000474796.1_3'UTR			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	182						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CCGGCGCCGGCTGGAGGAGCA	0.647000													9	39					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134026041	134026041	+	Silent	SNP	C	C	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:134026041C>G	ENST00000359428.5	+	16	2310	c.2166C>G	c.(2164-2166)gcC>gcG	p.A722A	RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000451030.1_Silent_p.A723A|NUP214_ENST00000411637.2_Silent_p.A712A			P35658	NU214_HUMAN	nucleoporin 214kDa	722	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGTTAAAAGCCCGAACTTCCA	0.433000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								27	77					0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125438137	125438137	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:125438137C>T	ENST00000304820.2	+	1	823	c.729C>T	c.(727-729)tcC>tcT	p.S243S		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						CCTGCAGCTCCCATCTCACTG	0.428000													5	28					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157771747	157771747	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:157771747G>A	ENST00000358292.3	-	5	895	c.844C>T	c.(844-846)Ctg>Ttg	p.L282L	FCRL1_ENST00000491942.1_Silent_p.L282L|FCRL1_ENST00000368176.3_Silent_p.L282L|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	282	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGGGCCCCCAGGCCATTGTTG	0.582000													23	68					0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18054898	18054898	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:18054898G>A	ENST00000250018.2	-	3	887	c.325C>T	c.(325-327)Cca>Tca	p.P109S	TPH1_ENST00000341556.2_Missense_Mutation_p.P109S	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	109					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ATCTTCTTTGGAAACCAAGGA	0.308000													22	169					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921998	24921998	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:24921998G>A	ENST00000329468.2	+	1	1458	c.984G>A	c.(982-984)agG>agA	p.R328R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTGCAAAAGGAAAATGTCGA	0.587000													11	63					0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26526493	26526493	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:26526493G>A	ENST00000456354.2	+	7	998	c.931G>A	c.(931-933)Gag>Aag	p.E311K		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	311					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CACCAACCTGGAGCAAATGAT	0.517000													6	19					0	0	1	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29231806	29231806	+	RNA	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:29231806C>T	ENST00000441381.1	+	0	277																											GCTGAGGCTTCCCAGGGAACC	0.383000													11	80					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130282067	130282067	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:130282067A>G	ENST00000358511.6	+	2	251	c.220A>G	c.(220-222)Aaa>Gaa	p.K74E	COL6A6_ENST00000453409.2_Missense_Mutation_p.K74E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	74	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTACAGTGATAAACTTCACAG	0.498000													16	66					0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56605222	56605222	+	Silent	SNP	T	T	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:56605222T>C	ENST00000394672.3	+	7	898	c.828T>C	c.(826-828)gcT>gcC	p.A276A	CCDC66_ENST00000326595.7_Silent_p.A242A|CCDC66_ENST00000436465.2_Silent_p.A276A	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	276										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AACAGGTTGCTTTAAAGAAGA	0.284000													7	44					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552431	140552431	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:140552431G>A	ENST00000231137.3	+	1	189	c.15G>A	c.(13-15)gtG>gtA	p.V5V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		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)			AGGCCAGAGTGGAGCGTGCTG	0.488000													6	71					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982373	57982373	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:57982373A>G	ENST00000309433.6	+	1	157	c.157A>G	c.(157-159)Att>Gtt	p.I53V		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I53V(1)		breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GGTCACTGTGATTGGGAACGG	0.448000													6	159					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72416746	72416746	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:72416746C>T	ENST00000257622.4	+	15	3905	c.2928C>T	c.(2926-2928)gcC>gcT	p.A976A	POM121_ENST00000395270.1_Intron|POM121_ENST00000358357.3_Silent_p.A976A|POM121_ENST00000434423.2_Silent_p.A1241A|POM121_ENST00000446813.1_Intron			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1241	Pore side (Potential).				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)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GACTGCAGGCCCGAAGGCAGC	0.582000													12	69					0	0	1	0	0
RPL17-C18orf32	100526842	broad.mit.edu	37	18	47015807	47015807	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr18:47015807G>A	ENST00000584895.1	-	5	443	c.429C>T	c.(427-429)ccC>ccT	p.P143P	RPL17-C18orf32_ENST00000332968.6_Silent_p.P105P|RPL17_ENST00000580210.1_Silent_p.P133P|MIR1539_ENST00000581232.1_RNA|RPL17_ENST00000418495.1_Silent_p.P143P|RPL17_ENST00000580261.1_Silent_p.P143P|RPL17_ENST00000579408.1_Silent_p.P143P|RPL17_ENST00000581091.1_5'UTR|RPL17_ENST00000579248.1_Silent_p.P143P|RPL17_ENST00000581373.1_Silent_p.P105P	NM_001199355.1|NM_001199356.1	NP_001186284.1|NP_001186285.1																					CAATGTGGCAGGGAGAGCTCA	0.463000													14	38					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864613	13864613	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:13864613C>T	ENST00000265104.4	-	28	4593	c.4489G>A	c.(4489-4491)Gaa>Aaa	p.E1497K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1497	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E1497K(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTATCCTTTCCCAGTGCCGC	0.473000									Kartagener syndrome				10	56					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55063015	55063015	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:55063015G>A	ENST00000371316.3	+	7	773	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	ACOT11_ENST00000343744.2_Missense_Mutation_p.A231T|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	231	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GCCTCCCCACGCCAATCACCA	0.622000													5	31					0	0	1	0	0
CRISP3	10321	broad.mit.edu	37	6	49696553	49696553	+	Missense_Mutation	SNP	C	C	T	rs113164514		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:49696553C>T	ENST00000433368.2	-	8	766	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	CRISP3_ENST00000263045.4_Missense_Mutation_p.E223K|CRISP3_ENST00000371159.4_Missense_Mutation_p.E241K|CRISP3_ENST00000393666.1_Missense_Mutation_p.E210K|CRISP3_ENST00000423399.2_Missense_Mutation_p.E120K	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	210					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)			TAGAGATCTTCGTACTTGCAA	0.358000													16	58					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645543	45645543	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:45645543G>A	ENST00000303230.4	-	2	650	c.593C>T	c.(592-594)aCt>aTt	p.T198I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	198						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTCATTGACAGTCCCAGTCCT	0.383000													11	43					0	0	1	0	0
SNX5	27131	broad.mit.edu	37	20	17923792	17923792	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:17923792G>A	ENST00000377768.3	-	13	1438	c.1126C>T	c.(1126-1128)Cta>Tta	p.L376L	SNX5_ENST00000377759.4_Silent_p.L376L|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	376	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						ATTTCAATTAGATTCTTTCTA	0.323000													37	113					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23225650	23225650	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:23225650A>G	ENST00000389131.3	-	2	584	c.215T>C	c.(214-216)gTg>gCg	p.V72A		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	72	SRCR 1.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GTACACCTCCACCCGGCCCTC	0.662000													19	78					0	0	1	0	0
SYT8	90019	broad.mit.edu	37	11	1858067	1858067	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:1858067C>T	ENST00000341958.3	+	6	1068	c.766C>T	c.(766-768)Cga>Tga	p.R256*	SYT8_ENST00000381968.3_Nonsense_Mutation_p.R270*|SYT8_ENST00000535046.1_3'UTR			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	270	C2 2.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTGGAGGCTCGAGGCCTGCG	0.687000													10	40					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69933964	69933964	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:69933964G>A	ENST00000355303.5	+	2	520	c.215G>A	c.(214-216)aGg>aAg	p.R72K	ANO1_ENST00000316296.5_Missense_Mutation_p.R44K|ANO1_ENST00000398543.2_5'UTR|ANO1_ENST00000538023.1_Missense_Mutation_p.R72K|ANO1_ENST00000530676.1_5'UTR	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	72					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CATCACAAGAGGCCCTCGGGC	0.642000													9	29					0	0	1	0	0
RASSF2	9770	broad.mit.edu	37	20	4764967	4764967	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:4764967C>T	ENST00000379400.3	-	12	1128	c.933G>A	c.(931-933)atG>atA	p.M311I	RASSF2_ENST00000379376.2_Missense_Mutation_p.M311I|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	311	SARAH.				cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TCTGTCGAATCATTAGCCGGA	0.592000													13	45					0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183885633	183885633	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:183885633C>T	ENST00000304685.3	+	17	2368	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F	RGL1_ENST00000360851.3_Missense_Mutation_p.S601F|RGL1_ENST00000367531.1_Missense_Mutation_p.S636F|RGL1_ENST00000536277.1_Missense_Mutation_p.S599F|RGL1_ENST00000539189.1_Missense_Mutation_p.S572F	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	601					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	p.S636F(2)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GACACAAATTCCTCAGGGATG	0.507000													57	84					0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68517991	68517991	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:68517991G>A	ENST00000443940.2	-	2	224	c.138C>T	c.(136-138)ttC>ttT	p.F46F	MTL5_ENST00000544963.1_Silent_p.F46F|MTL5_ENST00000255087.5_Silent_p.F46F			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	46					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TGAAGACGTGGAACTCGTCCT	0.652000													4	40					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47732461	47732461	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:47732461C>T	ENST00000455779.1	+	31	3270	c.3085C>T	c.(3085-3087)Caa>Taa	p.Q1029*	PHKB_ENST00000566044.1_Nonsense_Mutation_p.Q1029*|PHKB_ENST00000323584.5_Nonsense_Mutation_p.Q1036*|PHKB_ENST00000299167.8_Nonsense_Mutation_p.Q1036*			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	1036					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TAATGAATTTCAAAAAGATCA	0.308000													8	32					0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42248282	42248282	+	Missense_Mutation	SNP	C	C	T	rs145226168		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:42248282C>T	ENST00000293414.1	+	1	209	c.125C>T	c.(124-126)cCg>cTg	p.P42L		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	42					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CGCAGGTGCCCGTCAAGTCCC	0.697000													5	41					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3019199	3019199	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:3019199G>A	ENST00000381127.1	+	8	1260	c.1039G>A	c.(1039-1041)Gga>Aga	p.G347R	ARSF_ENST00000359361.2_Missense_Mutation_p.G347R|ARSF_ENST00000537104.1_Missense_Mutation_p.G347R	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	347						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATCAGATCACGGAGGGCATTT	0.433000													13	60					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152443755	152443755	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:152443755C>T	ENST00000367255.5	-	146	26811	c.26210G>A	c.(26209-26211)gGc>gAc	p.G8737D	SYNE1_ENST00000539504.1_Missense_Mutation_p.G892D|SYNE1_ENST00000265368.4_Missense_Mutation_p.G8737D|ESR1_ENST00000544394.1_Intron|SYNE1_ENST00000341594.5_Missense_Mutation_p.G8349D|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.G8689D|SYNE1_ENST00000423061.1_Missense_Mutation_p.G8689D|SYNE1_ENST00000356820.4_Missense_Mutation_p.G3261D|SYNE1_ENST00000354674.4_Missense_Mutation_p.G915D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8737					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAAGCCGCGGCCGGACCGACC	0.557000										HNSCC(10;0.0054)			25	89					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179400176	179400176	+	Silent	SNP	G	G	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:179400176G>T	ENST00000589042.1	-	358	101390	c.101166C>A	c.(101164-101166)acC>acA	p.T33722T	TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.T24849T|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000359218.5_Silent_p.T24782T|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.T24657T|TTN_ENST00000342992.6_Silent_p.T31154T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.T32081T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32081	Ig-like 148.						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)			CAATGTAGTTGGTGATTTTGC	0.453000													10	33					2.52707e-12	2.59395e-12	1	1	0
PCSK9	255738	broad.mit.edu	37	1	55518436	55518436	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:55518436G>A	ENST00000302118.5	+	5	1061	c.771G>A	c.(769-771)ggG>ggA	p.G257G	PCSK9_ENST00000543384.1_Silent_p.G57G|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	257	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						ACTGCCAAGGGAAGGGCACGG	0.672000													5	67					0	0	1	0	0
ZNF511	118472	broad.mit.edu	37	10	135123381	135123381	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:135123381C>T	ENST00000359035.3	+	3	332	c.329C>T	c.(328-330)tCc>tTc	p.S110F	ZNF511_ENST00000463816.2_Intron|ZNF511_ENST00000361518.5_Missense_Mutation_p.S110F|ZNF511_ENST00000368554.4_Missense_Mutation_p.S45F			Q8NB15	ZN511_HUMAN	zinc finger protein 511	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		AATGTTTGCTCCTTTTGCAAG	0.617000													16	53					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130935	52130935	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:52130935G>A	ENST00000222107.4	-	6	1200	c.1062C>T	c.(1060-1062)tcC>tcT	p.S354S	SIGLEC5_ENST00000429354.3_Silent_p.S354S|SIGLEC5_ENST00000599649.1_Silent_p.S354S|SIGLEC5_ENST00000570106.2_Silent_p.S354S|SIGLEC5_ENST00000534261.2_Silent_p.S354S			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	354					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GGGCTCGAAAGGAGCATCTGC	0.667000													3	21					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145536944	145536944	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:145536944C>T	ENST00000369304.3	+	18	2499	c.2324C>T	c.(2323-2325)tCa>tTa	p.S775L	ITGA10_ENST00000538811.1_Missense_Mutation_p.S644L|ITGA10_ENST00000539363.1_Missense_Mutation_p.S632L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	775					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AATGAGGGCTCACCCACCTCT	0.542000													47	88					0	0	1	0	0
MRPL16	54948	broad.mit.edu	37	11	59575316	59575316	+	Missense_Mutation	SNP	G	G	A	rs34696253		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:59575316G>A	ENST00000300151.4	-	3	341	c.128C>T	c.(127-129)tCc>tTc	p.S43F		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	43							rRNA binding			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						TTCAGGAATGGAAACATCTAA	0.348000													6	100					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56865818	56865818	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:56865818G>A	ENST00000564887.1	+	9	1410	c.781G>A	c.(781-783)Gat>Aat	p.D261N	NUP93_ENST00000569842.1_Missense_Mutation_p.D384N|NUP93_ENST00000308159.5_Missense_Mutation_p.D384N|NUP93_ENST00000542526.1_Missense_Mutation_p.D261N	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	384					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GAACAATACAGATCCCTACAA	0.502000													13	43					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124755021	124755021	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:124755021C>T	ENST00000306534.3	-	17	3402	c.2917G>A	c.(2917-2919)Gga>Aga	p.G973R	ROBO4_ENST00000533054.1_Missense_Mutation_p.G828R|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	973					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ATCCCCCTTCCCAGCCGCTGG	0.612000													22	57					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242065992	242065992	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:242065992C>T	ENST00000403638.3	-	10	2429	c.2338G>A	c.(2338-2340)Gat>Aat	p.D780N	PASK_ENST00000358649.4_Missense_Mutation_p.D780N|PASK_ENST00000539818.1_Missense_Mutation_p.D564N|PASK_ENST00000544142.1_Missense_Mutation_p.D594N|PASK_ENST00000405260.1_Missense_Mutation_p.D780N|PASK_ENST00000234040.4_Missense_Mutation_p.D780N	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	780					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CTGCCTACATCTGGATCGGAG	0.542000													16	49					0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157737228	157737228	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:157737228G>A	ENST00000361516.3	-	6	1003	c.955C>T	c.(955-957)Ctt>Ttt	p.L319F	FCRL2_ENST00000392274.3_Missense_Mutation_p.L319F|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000469986.1_Missense_Mutation_p.L66F	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	319	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCACAGTGAAGCTCCAGCAGG	0.597000													23	52					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16872782	16872782	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:16872782G>A	ENST00000355661.3	-	8	662	c.652C>T	c.(652-654)Cct>Tct	p.P218S	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.P218S|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.P218S			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	218	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGGGCCACAGGAGAGATCACG	0.502000													22	83					0	0	1	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87165116	87165116	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:87165116G>A	ENST00000285393.3	+	8	1105	c.963G>A	c.(961-963)aaG>aaA	p.K321K	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	321					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TAAAGCTGAAGGAACAGGAAA	0.358000													15	54					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98409920	98409920	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:98409920C>T	ENST00000186436.5	-	30	3711	c.3483G>A	c.(3481-3483)ccG>ccA	p.P1161P		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1161						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CATCGAAGGGCGGGTTCGAGG	0.468000													3	41					0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29924113	29924113	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:29924113C>G	ENST00000490103.1	-	11	1142	c.1020G>C	c.(1018-1020)atG>atC	p.M340I	CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.M340I|THOC5_ENST00000397872.1_Missense_Mutation_p.M340I|THOC5_ENST00000397873.2_Missense_Mutation_p.M340I	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	340					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCTCTTCAGCATCTCCTTGC	0.522000													6	114					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610233	47610233	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:47610233G>A	ENST00000371891.3	+	8	940	c.909G>A	c.(907-909)ggG>ggA	p.G303G	CYP4A22_ENST00000371890.3_Intron|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_Intron|CYP4A22_ENST00000294337.3_Silent_p.G303G	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	303						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGAGAATGGGAGCATCTTGT	0.532000													7	142					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2153634	2153634	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:2153634G>A	ENST00000262304.4	-	23	8632	c.8424C>T	c.(8422-8424)atC>atT	p.I2808I	PKD1_ENST00000423118.1_Silent_p.I2808I|PKD1_ENST00000561991.1_Intron	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2808	REJ.				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						AAGCCTCGGGGATGGAGAAGT	0.652000													17	94					0	0	1	0	0
AGMAT	79814	broad.mit.edu	37	1	15909708	15909708	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:15909708C>G	ENST00000375826.3	-	2	597	c.455G>C	c.(454-456)gGc>gCc	p.G152A	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	152					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAATACAGCCAGCTGCTAC	0.493000													3	32					0	0	1	0	0
GDAP1	54332	broad.mit.edu	37	8	75262745	75262745	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:75262745G>A	ENST00000220822.7	+	1	129	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	GDAP1_ENST00000521096.1_Intron|GDAP1_ENST00000434412.2_Intron	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	17				AE -> GK (in Ref. 1; CAA76892).		cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CTTGAGGGCGGAAGGCAAGGC	0.642000													13	54					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179192444	179192444	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:179192444C>T	ENST00000292599.3	+	2	696	c.433C>T	c.(433-435)Cct>Tct	p.P145S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	145					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGGGAGGCCCCTCTGGGAGT	0.592000													8	66					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123339130	123339130	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:123339130G>A	ENST00000360772.3	-	32	5517	c.5139C>T	c.(5137-5139)atC>atT	p.I1713I	MYLK_ENST00000360304.3_Silent_p.I1764I|MYLK_ENST00000354792.5_Silent_p.I564I|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Silent_p.I1695I|MYLK_ENST00000475616.1_Silent_p.I1764I|MYLK_ENST00000583087.1_Silent_p.I4I|MYLK_ENST00000359169.1_Silent_p.I1713I|MYLK_ENST00000578202.1_Silent_p.I4I|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000418370.2_Silent_p.I4I|MYLK-AS1_ENST00000470449.1_RNA			Q15746	MYLK_HUMAN	myosin light chain kinase	1764	Calmodulin-binding.|Protein kinase.				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)		TGAGCCCTGAGATCATTGCCA	0.517000													44	213					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228399631	228399631	+	Translation_Start_Site	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:228399631G>A	ENST00000366707.4	+	0	191				OBSCN_ENST00000366709.4_De_novo_Start_InFrame|OBSCN_ENST00000570156.2_Silent_p.P49P|OBSCN_ENST00000284548.11_Silent_p.P49P|OBSCN_ENST00000422127.1_Silent_p.P49P|C1orf145_ENST00000295012.5_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						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)				ACCAGCAGCCGGTGGCGGCCG	0.682000													5	12					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580102	140580102	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:140580102G>T	ENST00000354757.3	+	1	755	c.755G>T	c.(754-756)cGg>cTg	p.R252L	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		252	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGAAGATTCGGGAGAATAGC	0.468000													37	172					1.90571e-15	1.97105e-15	1	1	0
TTLL3	26140	broad.mit.edu	37	3	9859352	9859352	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:9859352G>A	ENST00000547186.1	+	5	555	c.339G>A	c.(337-339)cgG>cgA	p.R113R	TTLL3_ENST00000397241.1_5'UTR|TTLL3_ENST00000426895.4_Silent_p.R256R|TTLL3_ENST00000427853.3_5'UTR|ARPC4-TTLL3_ENST00000397256.1_Silent_p.R207R	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	113					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TCAATCTCCGGAATTTGCCGT	0.532000													33	160					0	0	1	0	0
MAP2K5	5607	broad.mit.edu	37	15	68061944	68061944	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:68061944C>T	ENST00000178640.5	+	20	1766	c.1139C>T	c.(1138-1140)tCg>tTg	p.S380L	MAP2K5_ENST00000340972.4_Missense_Mutation_p.S190L|MAP2K5_ENST00000395476.2_Missense_Mutation_p.S370L|MAP2K5_ENST00000354498.5_Missense_Mutation_p.S344L	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	380	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TCACAGGATTCGCCCGTCCTT	0.443000													9	39					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90084058	90084058	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:90084058C>T	ENST00000405460.2	+	68	13920	c.13824C>T	c.(13822-13824)ttC>ttT	p.F4608F	GPR98_ENST00000425867.2_Silent_p.F269F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4608	Calx-beta 31.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGAGACATTCATTATTAAAC	0.358000													5	52					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95539408	95539408	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:95539408T>C	ENST00000297591.5	-	8	1139	c.1064A>G	c.(1063-1065)tAc>tGc	p.Y355C	KIAA1429_ENST00000437199.1_Missense_Mutation_p.Y355C|KIAA1429_ENST00000421249.2_Missense_Mutation_p.Y355C	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	355					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)			AGTAGTCTTGTATGGACAACT	0.393000													17	89					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152467039	152467039	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:152467039G>A	ENST00000427231.2	-	80	12211	c.12009C>T	c.(12007-12009)atC>atT	p.I4003I	NEB_ENST00000172853.10_Silent_p.I3760I|NEB_ENST00000604864.1_Silent_p.I4003I|NEB_ENST00000409198.1_Silent_p.I3760I|NEB_ENST00000397345.3_Silent_p.I4003I|NEB_ENST00000603639.1_Silent_p.I4003I	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	4002					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGTCACTGGCGATGTCCCTGG	0.483000													16	89					0	0	1	0	0
C21orf62	56245	broad.mit.edu	37	21	34166515	34166515	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr21:34166515C>T	ENST00000536776.1	-	2	358	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	C21orf62_ENST00000490358.1_Missense_Mutation_p.R73Q|C21orf49_ENST00000477513.1_Intron|C21orf62_ENST00000487113.1_Missense_Mutation_p.R73Q|C21orf49_ENST00000453404.1_Intron|C21orf62_ENST00000479548.1_Missense_Mutation_p.R73Q|C21orf49_ENST00000382377.3_Intron|C21orf49_ENST00000382375.4_Intron|C21orf49_ENST00000382378.1_Intron	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	73										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				GTAGCTGGTTCGCTCTACTGC	0.547000													20	77					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200968558	200968558	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:200968558C>T	ENST00000332129.2	-	13	2120	c.1804G>A	c.(1804-1806)Gag>Aag	p.E602K	KIF21B_ENST00000360529.5_Missense_Mutation_p.E602K|KIF21B_ENST00000422435.2_Missense_Mutation_p.E602K|KIF21B_ENST00000461742.2_Missense_Mutation_p.E602K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	602					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CGCCCTTCCTCCTCCTCACAG	0.642000													25	59					0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	86988964	86988964	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:86988964G>A	ENST00000395169.3	-	10	1553	c.833C>T	c.(832-834)tCc>tTc	p.S278F	MAPK10_ENST00000449047.2_Missense_Mutation_p.S171F|MAPK10_ENST00000395160.3_Missense_Mutation_p.S171F|MAPK10_ENST00000395161.2_Missense_Mutation_p.S316F|MAPK10_ENST00000395166.1_Missense_Mutation_p.S278F|MAPK10_ENST00000361569.2_Missense_Mutation_p.S316F|MAPK10_ENST00000359221.3_Missense_Mutation_p.S316F|MAPK10_ENST00000395157.3_Missense_Mutation_p.S171F	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	316	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding 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|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		TGGGAAGAGGGAATCTGGGAA	0.493000													5	30					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809378	18809378	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:18809378G>A	ENST00000400664.1	+	1	1955	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	635						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCGTGCCAAGGAAATCTTCGT	0.711000													6	30					0	0	1	0	0
TSPAN9	10867	broad.mit.edu	37	12	3389554	3389554	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:3389554G>A	ENST00000011898.5	+	6	498	c.337G>A	c.(337-339)Gag>Aag	p.E113K	TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000407263.1_Missense_Mutation_p.E113K|TSPAN9_ENST00000537971.1_Missense_Mutation_p.E113K	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	113						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GCAGGTGAACGAGAACGCCAA	0.607000													12	53					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236507	33236507	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:33236507G>A	ENST00000401073.2	+	6	1797	c.1727G>A	c.(1726-1728)cGg>cAg	p.R576Q	KIAA1522_ENST00000373481.3_Missense_Mutation_p.R528Q|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Missense_Mutation_p.R517Q	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	517	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCCCCAGAACGGACACTTTCG	0.682000													7	39					0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132262827	132262827	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:132262827G>A	ENST00000265343.5	-	5	1415	c.1036C>T	c.(1036-1038)Cct>Tct	p.P346S	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.P346S	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	346	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTGGAAAAGGAAATTTGGAA	0.333000													5	28					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135000048	135000048	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:135000048C>T	ENST00000304613.3	+	6	1217	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L	KNDC1_ENST00000368571.2_Missense_Mutation_p.S334L|KNDC1_ENST00000368572.2_Missense_Mutation_p.S399L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	399					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCCGAGACTTCACACCCCAGC	0.672000													10	44					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123512605	123512605	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:123512605G>A	ENST00000360772.3	-	5	462	c.84C>T	c.(82-84)ccC>ccT	p.P28P	MYLK_ENST00000360304.3_Silent_p.P28P|MYLK_ENST00000475616.1_Silent_p.P28P|MYLK_ENST00000346322.5_Silent_p.P28P|MYLK_ENST00000359169.1_Silent_p.P28P			Q15746	MYLK_HUMAN	myosin light chain kinase	28					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)		CCTCTGTCAGGGGCATGGAGT	0.547000													8	44					0	0	1	0	0
GKN1	56287	broad.mit.edu	37	2	69204776	69204776	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:69204776A>T	ENST00000377938.2	+	3	179	c.116A>T	c.(115-117)aAc>aTc	p.N39I		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	39					digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						CAGAATATCAACGTCAATGAT	0.383000													4	53					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34079561	34079561	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:34079561G>A	ENST00000254466.6	-	1	336	c.309C>T	c.(307-309)gcC>gcT	p.A103A	GAS2L2_ENST00000587565.1_Silent_p.A103A	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	103	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TACCTGGCTGGGCGGCCCCAT	0.622000													16	97					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187173218	187173218	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:187173218T>G	ENST00000264690.6	+	11	1379	c.1192T>G	c.(1192-1194)Tct>Gct	p.S398A	KLKB1_ENST00000513864.1_Missense_Mutation_p.S398A	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	398	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AACAAACTCTTCTTGGGGAGA	0.517000													26	73					0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29945079	29945079	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:29945079G>A	ENST00000490103.1	-	2	180	c.58C>T	c.(58-60)Cca>Tca	p.P20S	THOC5_ENST00000397871.1_Missense_Mutation_p.P20S|THOC5_ENST00000397872.1_Missense_Mutation_p.P20S|THOC5_ENST00000397873.2_Missense_Mutation_p.P20S	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	20	Interaction with CSF1R (By similarity).|Interaction with THOC7.				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTTCAGCTGGGGCTCCATCG	0.493000													30	56					0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	133107522	133107522	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:133107522G>C	ENST00000368642.4	-	2	468	c.383C>G	c.(382-384)cCc>cGc	p.P128R		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	128										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TGTGGAAGAGGGGGGCAGTCC	0.527000													13	43					0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41077041	41077041	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:41077041G>A	ENST00000249016.4	+	2	1074	c.378G>A	c.(376-378)ggG>ggA	p.G126G	MCHR1_ENST00000381433.2_Silent_p.G126G|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	126					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GCATCATCGGGAACTCCACGG	0.557000													5	101					0	0	1	0	0
FCHSD2	9873	broad.mit.edu	37	11	72560874	72560874	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:72560874C>T	ENST00000409314.1	-	15	1609	c.1441G>A	c.(1441-1443)Gat>Aat	p.D481N	FCHSD2_ENST00000311172.7_Missense_Mutation_p.D401N|FCHSD2_ENST00000409853.1_Missense_Mutation_p.D401N|FCHSD2_ENST00000409418.4_Missense_Mutation_p.D457N|FCHSD2_ENST00000458644.2_Missense_Mutation_p.D321N			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	457	SH3 1.						protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CTGCTGTCATCGAAAACATCC	0.378000													9	220					0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307858	39307858	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:39307858C>T	ENST00000541347.1	-	2	382	c.143G>A	c.(142-144)gGa>gAa	p.G48E	CX3CR1_ENST00000399220.2_Missense_Mutation_p.G48E|CX3CR1_ENST00000542107.1_Missense_Mutation_p.G48E|CX3CR1_ENST00000358309.3_Missense_Mutation_p.G80E	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	48					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CAACAAATTTCCCACCAGGCC	0.488000													18	66					0	0	1	0	0
HADHA	3030	broad.mit.edu	37	2	26459837	26459837	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:26459837T>A	ENST00000380649.3	-	4	329	c.200A>T	c.(199-201)gAg>gTg	p.E67V	HADHA_ENST00000457468.2_Intron	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	67					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TGAATGTAGCTCTTTACTCAG	0.388000													20	73					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54307329	54307329	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:54307329G>A	ENST00000324134.6	-	6	2630	c.2462C>T	c.(2461-2463)tCt>tTt	p.S821F	NLRP12_ENST00000391773.1_Missense_Mutation_p.S822F|NLRP12_ENST00000535162.1_Missense_Mutation_p.S821F|NLRP12_ENST00000354278.3_Missense_Mutation_p.S821F|NLRP12_ENST00000391772.1_Missense_Mutation_p.S822F|NLRP12_ENST00000391775.3_Missense_Mutation_p.S821F|NLRP12_ENST00000351894.4_Missense_Mutation_p.S821F|NLRP12_ENST00000345770.5_Missense_Mutation_p.S822F	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	821					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCCGAGCACAGAAGCCATCTC	0.557000													6	39					0	0	1	0	0
NUBP1	4682	broad.mit.edu	37	16	10861804	10861804	+	Splice_Site	SNP	A	A	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:10861804A>T	ENST00000283027.5	+	10	839		c.e10-1		TVP23A_ENST00000572980.1_Intron|TVP23A_ENST00000299866.8_3'UTR|NUBP1_ENST00000433392.2_Splice_Site	NM_002484.2	NP_002475.2	P53384	NUBP1_HUMAN	nucleotide binding protein 1						cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						TTCTTTTTTAAGGTAAGAATT	0.428000													26	86					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389642	20389642	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr14:20389642G>A	ENST00000315915.4	+	1	902	c.877G>A	c.(877-879)Gat>Aat	p.D293N		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAGGAATAGGGATATGAAGGC	0.398000													18	142					0	0	1	0	0
FABP9	646480	broad.mit.edu	37	8	82371553	82371553	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:82371553C>T	ENST00000379071.2	-	2	148	c.93G>A	c.(91-93)cgG>cgA	p.R31R	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	31							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			CTGCCATGTTCCGGGCTGCGA	0.403000													19	90					0	0	1	0	0
TSNARE1	203062	broad.mit.edu	37	8	143425466	143425466	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:143425466G>A	ENST00000524325.1	-	4	781	c.606C>T	c.(604-606)ctC>ctT	p.L202L	TSNARE1_ENST00000520166.1_Silent_p.L202L|TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000307180.3_Silent_p.L202L			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	202					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCGCCTTCCGGAGGTCGCCCA	0.692000													16	41					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752674	36752674	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:36752674C>T	ENST00000354618.5	+	4	1067	c.843C>T	c.(841-843)tcC>tcT	p.S281S	THRAP3_ENST00000469141.2_Silent_p.S281S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	281	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAGCACATCCCAGATGGGCT	0.597000			T	USP6	aneurysmal bone cysts								26	140					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159646637	159646637	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:159646637C>T	ENST00000297267.9	+	8	1155	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	FNDC1_ENST00000340366.6_Missense_Mutation_p.R319C|FNDC1_ENST00000480856.1_3'UTR	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	319	Fibronectin type-III 3.					extracellular region		p.R319C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGCTAACAGGCGTGTGCTGAT	0.468000													34	129					0	0	1	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140865166	140865166	+	Silent	SNP	T	T	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:140865166T>C	ENST00000306593.1	+	1	426	c.426T>C	c.(424-426)atT>atC	p.I142I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTGGAAATTGGGGAGGCAG	0.542000													14	109					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958528	121958528	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:121958528G>A	ENST00000379692.4	-	4	1124	c.598C>T	c.(598-600)Ccc>Tcc	p.P200S	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	200										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GAGGCAGTGGGGCTTGGTTTC	0.498000													23	130					0	0	1	0	0
GALK1	2584	broad.mit.edu	37	17	73754179	73754179	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:73754179G>A	ENST00000588479.1	-	8	1711	c.1137C>T	c.(1135-1137)taC>taT	p.Y379Y	GALK1_ENST00000225614.2_Silent_p.Y379Y|GALK1_ENST00000437911.1_Silent_p.Y409Y			P51570	GALK1_HUMAN	galactokinase 1	379					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTTGAGAGAGGTAGAAGGTGG	0.697000													3	19					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295609	29295609	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:29295609C>T	ENST00000331664.5	-	1	1518	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	507					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						GGAGTTTTTTCCTGCCAGGCA	0.562000													28	105					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196786915	196786915	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:196786915G>A	ENST00000312428.6	-	24	3932	c.3832C>T	c.(3832-3834)Cat>Tat	p.H1278Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1278	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTTTCTAAATGATTTTCCTAG	0.289000													7	22					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141773411	141773411	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:141773411C>T	ENST00000389484.3	-	13	3015	c.2044G>A	c.(2044-2046)Gat>Aat	p.D682N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	682					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)		TTGAATCCATCCATCCAGGCC	0.413000										TSP Lung(27;0.18)			19	51					0	0	1	0	0
DEFB119	245932	broad.mit.edu	37	20	29976892	29976892	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:29976892C>T	ENST00000376315.2	-	2	202	c.203G>A	c.(202-204)gGc>gAc	p.G68D	DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000376321.3_Intron	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	defensin, beta 119	0					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGTGGTCCAGCCAAGGATTCC	0.413000													24	62					0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130465754	130465754	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:130465754C>G	ENST00000368134.2	-	14	2082	c.1474G>C	c.(1474-1476)Gaa>Caa	p.E492Q	SAMD3_ENST00000439090.2_Missense_Mutation_p.E492Q|SAMD3_ENST00000437477.2_Missense_Mutation_p.E492Q|SAMD3_ENST00000457563.2_Missense_Mutation_p.E516Q	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	492										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		ATCAGCGTTTCTAGGAAGTTG	0.428000													12	50					0	0	1	0	0
FOLR1	2348	broad.mit.edu	37	11	71903276	71903276	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:71903276G>A	ENST00000393679.1	+	2	495	c.59G>A	c.(58-60)gGg>gAg	p.G20E	FOLR1_ENST00000393676.3_Missense_Mutation_p.G20E|FOLR1_ENST00000393681.2_Missense_Mutation_p.G20E|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Missense_Mutation_p.G20E			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	20					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						GCTGTAGTAGGGGAGGCTCAG	0.557000													27	99					0	0	1	0	0
FAM86EP	348926	broad.mit.edu	37	4	3952884	3952884	+	RNA	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:3952884G>A	ENST00000281228.8	-	0	223				FAM86EP_ENST00000313946.8_RNA																							TGAGTTCTGAGAGAAAGCACC	0.562000													10	52					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156915370	156915370	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:156915370G>A	ENST00000257527.4	-	21	2531	c.2453C>T	c.(2452-2454)tCc>tTc	p.S818F	ADAM19_ENST00000394020.1_Missense_Mutation_p.S820F|ADAM19_ENST00000517905.1_Missense_Mutation_p.S818F|ADAM19_ENST00000430702.2_Missense_Mutation_p.S551F	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	818					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGCCCTGGGGAGTTCCTAGC	0.642000													19	135					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90052388	90052388	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:90052388G>A	ENST00000405460.2	+	56	11794	c.11698G>A	c.(11698-11700)Gag>Aag	p.E3900K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3900					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAAATAGCTGAGATAATGAT	0.423000													11	63					0	0	1	0	0
WDR48	57599	broad.mit.edu	37	3	39093555	39093555	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:39093555G>A	ENST00000302313.5	+	1	67	c.39G>A	c.(37-39)agG>agA	p.R13R	WDR48_ENST00000544962.1_Silent_p.R13R|WDR48_ENST00000396258.3_5'UTR|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	13					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	p.R13R(1)		breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAGGGCGGAGGAAAGTGCAGG	0.667000													16	77					0	0	1	0	0
ACTG2	72	broad.mit.edu	37	2	74135866	74135866	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:74135866G>A	ENST00000409624.1	+	5	965	c.322G>A	c.(322-324)Gag>Aag	p.E108K	ACTG2_ENST00000409731.3_Missense_Mutation_p.E65K|ACTG2_ENST00000345517.3_Missense_Mutation_p.E108K			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	108					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						CCTGCTCACAGAGGCTCCCCT	0.522000													5	42					0	0	1	0	0
RARA	5914	broad.mit.edu	37	17	38508701	38508701	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:38508701C>T	ENST00000254066.5	+	6	1204	c.749C>T	c.(748-750)aCc>aTc	p.T250I	RARA_ENST00000425707.3_Missense_Mutation_p.T153I|RARA_ENST00000394089.2_Missense_Mutation_p.T250I|RARA_ENST00000394086.3_Missense_Mutation_p.T266I|RARA_ENST00000394081.3_Missense_Mutation_p.T245I|RARA_ENST00000420042.1_3'UTR	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	250	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CCCGGCTTCACCACCCTCACC	0.602000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								8	63					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88296958	88296958	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:88296958C>T	ENST00000518476.1	+	7	875	c.824C>T	c.(823-825)tCg>tTg	p.S275L		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	275										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						CAGAATGAATCGGAAACACAG	0.378000													3	13					0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12692234	12692234	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:12692234C>T	ENST00000311437.6	-	5	777	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TAGGGTTTCTCTCCAGTGTGA	0.418000													16	73					0	0	1	0	0
ATF5	22809	broad.mit.edu	37	19	50435948	50435948	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:50435948C>T	ENST00000423777.2	+	3	825	c.448C>T	c.(448-450)Ctc>Ttc	p.L150F	CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Missense_Mutation_p.L150F	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	150	Interaction with PTP4A1 (By similarity).				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CTCCTTTGACCTCCCCCAGCC	0.697000													4	12					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150349341	150349341	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:150349341C>T	ENST00000218316.3	+	2	1355	c.1286C>T	c.(1285-1287)tCt>tTt	p.S429F		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	429	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCCTGCCTCTGGTCACCCC	0.542000													70	233					0	0	1	0	0
FLCN	201163	broad.mit.edu	37	17	17131214	17131214	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:17131214C>T	ENST00000285071.4	-	4	692	c.238G>A	c.(238-240)Gac>Aac	p.D80N	FLCN_ENST00000389169.5_Missense_Mutation_p.D80N|RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	80					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TCGCACATGTCCGACTTTTTG	0.617000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				19	79					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62029979	62029979	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:62029979G>A	ENST00000280772.1	-	5	614	c.423C>T	c.(421-423)ttC>ttT	p.F141F	ANK3_ENST00000503366.1_Silent_p.F124F|ANK3_ENST00000373827.2_Silent_p.F135F	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	141					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACAATGGCGTGAAACCATTCT	0.413000													8	25					0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58319857	58319857	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:58319857C>T	ENST00000219301.4	-	5	900	c.506G>A	c.(505-507)tGg>tAg	p.W169*	PRSS54_ENST00000567164.1_Nonsense_Mutation_p.W169*|PRSS54_ENST00000543437.1_Nonsense_Mutation_p.W70*	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	169	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTGGGATTCCATCCTGACAC	0.542000													15	41					0	0	1	0	0
CRHBP	1393	broad.mit.edu	37	5	76264643	76264643	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:76264643T>G	ENST00000274368.4	+	7	1324	c.902T>G	c.(901-903)cTg>cGg	p.L301R	CRHBP_ENST00000514258.1_Intron	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	301					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TATCGTCAGCTGGAGCCGTAC	0.458000													11	60					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31642962	31642962	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr14:31642962G>A	ENST00000399332.1	-	5	1142	c.654C>T	c.(652-654)acC>acT	p.T218T	HECTD1_ENST00000553700.1_Silent_p.T218T	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	218					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CACCACGACGGGTAAATCGGT	0.473000													9	26					0	0	1	0	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50723759	50723759	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:50723759C>A	ENST00000515869.1	-	6	2926	c.2806G>T	c.(2806-2808)Gaa>Taa	p.E936*	ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000374127.3_Nonsense_Mutation_p.E468*|ERCC6-PGBD3_ENST00000447839.2_Nonsense_Mutation_p.E936*|PGBD3_ENST00000508005.2_Nonsense_Mutation_p.E468*|PGBD3_ENST00000603152.1_Nonsense_Mutation_p.E936*	NM_001277059.1	NP_001263988.1												p.E468K(1)									TCAATGTTTTCATCAGCTCTG	0.408000													24	114					9.04412e-07	9.19655e-07	1	1	0
POLD3	10714	broad.mit.edu	37	11	74303749	74303749	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:74303749G>A	ENST00000263681.2	+	1	175	c.46G>A	c.(46-48)Gac>Aac	p.D16N	POLD3_ENST00000532497.1_5'UTR|POLD3_ENST00000527458.1_5'UTR|POLD3_ENST00000532784.1_3'UTR	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	16					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					GTTCGTCACGGACCAAAACAA	0.622000													14	78					0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84088076	84088076	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:84088076G>A	ENST00000343411.3	-	23	3632	c.3137C>T	c.(3136-3138)cCg>cTg	p.P1046L		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	1046	Arg/Lys/Pro-rich (basic).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGTCTTTGGCGGGTGAACCTG	0.647000													4	24					0	0	1	0	0
TMEM43	79188	broad.mit.edu	37	3	14166704	14166704	+	Splice_Site	SNP	A	A	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:14166704A>T	ENST00000306077.4	+	1	265	c.12_splice	c.e1+1	p.N4_splice		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	4						endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						ATGGCCGCGAATGTGAGTATC	0.697000													8	23					0	0	1	0	0
DDX25	29118	broad.mit.edu	37	11	125787137	125787137	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:125787137C>T	ENST00000263576.6	+	9	1184	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	343	Helicase C-terminal.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		AGGCCATCATCTTCTGCCAGG	0.512000													2	5					0	0	1	0	0
ACTR8	93973	broad.mit.edu	37	3	53902879	53902879	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:53902879G>A	ENST00000335754.3	-	13	1842	c.1742C>T	c.(1741-1743)cCc>cTc	p.P581L	ACTR8_ENST00000482349.1_Missense_Mutation_p.P470L|ACTR8_ENST00000231909.7_Missense_Mutation_p.P286L|ACTR8_ENST00000488802.1_5'UTR	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	581					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		AATCAGCCGGGGGTCCATGTC	0.483000													3	42					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47260957	47260957	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:47260957C>T	ENST00000396220.1	-	27	3613	c.3591G>A	c.(3589-3591)gaG>gaA	p.E1197E	PREX1_ENST00000371941.3_Silent_p.E1197E			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1197					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CAGACCCCATCTCGTCGCTGC	0.532000													13	31					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133362176	133362176	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:133362176G>A	ENST00000260810.5	-	12	2020	c.1889C>T	c.(1888-1890)tCg>tTg	p.S630L		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	630	BRCT 4.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GAGAGGATTCGACTTTGGATC	0.378000								Other conserved DNA damage response genes					7	34					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111155629	111155629	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:111155629C>T	ENST00000262839.2	-	3	1708	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	264					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.E264K(1)		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						ATCTCCAGTTCCCTGGAGCTC	0.522000													50	122					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33643561	33643561	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:33643561G>A	ENST00000374316.5	+	26	4270	c.3210G>A	c.(3208-3210)ctG>ctA	p.L1070L	ITPR3_ENST00000605930.1_Silent_p.L1070L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1070					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ATGCGCCGCTGGTCTCGGGTG	0.647000													3	28					0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95092200	95092200	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr13:95092200G>A	ENST00000377028.5	-	8	1925	c.1512C>T	c.(1510-1512)ccC>ccT	p.P504P	DCT_ENST00000446125.1_Silent_p.P537P	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	504					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TCTCCATTAGGGGTGTATATC	0.453000													7	63					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36168602	36168602	+	Missense_Mutation	SNP	C	C	T	rs139238452	byFrequency	TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:36168602C>T	ENST00000303965.4	-	10	2414	c.1925G>A	c.(1924-1926)cGa>cAa	p.R642Q		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	642	PH 2.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTCACAGTTCGGTCCACTTG	0.333000													5	46					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583574	7583574	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:7583574G>A	ENST00000379802.3	+	24	6420	c.6079G>A	c.(6079-6081)Gaa>Aaa	p.E2027K	DSP_ENST00000418664.2_Missense_Mutation_p.E1428K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2027	Globular 2.				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)		TTCTCCTAAGGAAAAATACTC	0.468000													33	68					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692998	135692998	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:135692998G>A	ENST00000513104.1	-	2	360	c.78C>T	c.(76-78)atC>atT	p.I26I	TRPC7_ENST00000355180.3_Silent_p.I26I|TRPC7_ENST00000426057.2_Silent_p.I26I	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	26					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGGACCCCGGATGGCCTGGC	0.612000													9	97					0	0	1	0	0
TNFAIP1	7126	broad.mit.edu	37	17	26669339	26669339	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:26669339C>T	ENST00000226225.2	+	6	852	c.585C>T	c.(583-585)ggC>ggT	p.G195G	TNFAIP1_ENST00000544907.2_Silent_p.G91G|TNFAIP1_ENST00000583213.1_3'UTR	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	195					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GCTTCAACGGCCGCGTGCTCT	0.547000													8	28					0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113788703	113788703	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:113788703G>A	ENST00000259213.4	-	3	150	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C	IL36B_ENST00000327407.2_Missense_Mutation_p.R15C	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	15					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						CGAGAATCACGAATAGCATAG	0.473000													12	41					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		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	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|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)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			30	145					1.08312e-15	1.12239e-15	1	1	0
IFT122	55764	broad.mit.edu	37	3	129236373	129236373	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:129236373C>T	ENST00000296266.3	+	28	3672	c.3480C>T	c.(3478-3480)tcC>tcT	p.S1160S	IFT122_ENST00000349441.2_Silent_p.S999S|IFT122_ENST00000348417.2_Silent_p.S1109S|IFT122_ENST00000347300.2_Silent_p.S1050S|IFT122_ENST00000504021.1_Silent_p.S986S|IFT122_ENST00000440957.2_Silent_p.S900S|IFT122_ENST00000507564.1_Silent_p.S1102S|IFT122_ENST00000431818.2_Silent_p.S959S	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	1109					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						AAGCCATCTCCCTCATCGACC	0.572000													21	80					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33408648	33408648	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:33408648C>T	ENST00000418600.2	+	11	1920	c.1819C>T	c.(1819-1821)Ctc>Ttc	p.L607F	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.L548F|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.L607F|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	607	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GTCGCCCAGTCTCTTTGGGCT	0.587000													4	44					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51287567	51287567	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:51287567G>A	ENST00000395542.2	-	2	300	c.116C>T	c.(115-117)cCc>cTc	p.P39L	COBL_ENST00000441453.1_Missense_Mutation_p.P39L|COBL_ENST00000265136.7_Missense_Mutation_p.P39L|COBL_ENST00000395540.2_Missense_Mutation_p.P39L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	39										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ATCGTGGGGGGGCTTCTGGTC	0.602000													10	74					0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79616293	79616293	+	Missense_Mutation	SNP	G	G	A	rs75976382		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:79616293G>A	ENST00000296739.4	+	1	504	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GGCAGGTTTTGAAGAGAAGAT	0.333000													11	46					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228399632	228399632	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:228399632G>A	ENST00000570156.2	+	2	222	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V50M|OBSCN_ENST00000422127.1_Missense_Mutation_p.V50M|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	50	Ig-like 1.				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)				CCAGCAGCCGGTGGCGGCCGG	0.682000													5	12					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94546148	94546148	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:94546148C>T	ENST00000370225.3	-	8	1071	c.985G>A	c.(985-987)Gga>Aga	p.G329R	ABCA4_ENST00000535735.1_Missense_Mutation_p.G329R	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	329					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GAGCCACCTCCCTCGGGGTAG	0.522000													25	100					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73615425	73615425	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:73615425C>T	ENST00000261917.3	-	8	4002	c.3009G>A	c.(3007-3009)ccG>ccA	p.P1003P		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1003	Pro-rich.				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)		CAAGGGACGGCGGCTCAGGCT	0.711000													5	13					0	0	1	0	0
TRAV24	28659	broad.mit.edu	37	14	22574028	22574028	+	RNA	SNP	G	G	A	rs117611736	by1000genomes	TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr14:22574028G>A	ENST00000390453.1	+	0	248																											AAGAAAGGACGAATAAGTGCC	0.433000													4	19					0	0	1	0	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50723760	50723760	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:50723760A>C	ENST00000515869.1	-	6	2925	c.2805T>G	c.(2803-2805)gaT>gaG	p.D935E	ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000374127.3_Missense_Mutation_p.D467E|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.D935E|PGBD3_ENST00000508005.2_Missense_Mutation_p.D467E|PGBD3_ENST00000603152.1_Missense_Mutation_p.D935E	NM_001277059.1	NP_001263988.1																					CAATGTTTTCATCAGCTCTGT	0.408000													26	113					0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135113536	135113536	+	Missense_Mutation	SNP	G	G	C	rs138791036		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:135113536G>C	ENST00000368563.2	-	3	588	c.232C>G	c.(232-234)Ctt>Gtt	p.L78V	TUBGCP2_ENST00000252936.3_Missense_Mutation_p.L78V|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.L78V|TUBGCP2_ENST00000470829.1_5'UTR|TUBGCP2_ENST00000417178.2_5'UTR	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	78					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AGCGGGTCAAGGTTCCTTGTA	0.458000													24	63					0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156422757	156422757	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:156422757G>A	ENST00000461166.1	+	6	2399	c.1811G>A	c.(1810-1812)aGa>aAa	p.R604K	TIPARP_ENST00000486483.1_Missense_Mutation_p.R604K|TIPARP_ENST00000295924.7_Missense_Mutation_p.R604K|TIPARP_ENST00000542783.1_Missense_Mutation_p.R604K	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	604	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CATGGCATGAGAAGGCCCCCG	0.448000													13	75					0	0	1	0	0
TMEM42	131616	broad.mit.edu	37	3	44906594	44906594	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:44906594C>T	ENST00000302392.4	+	3	458	c.402C>T	c.(400-402)ttC>ttT	p.F134F		NM_144638.1	NP_653239.1	Q69YG0	TMM42_HUMAN	transmembrane protein 42	134						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576)		GAGGAGTGTTCCTTATTCTCT	0.562000													11	55					0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16467100	16467100	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:16467100G>A	ENST00000395824.1	-	4	1158	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	ZNF287_ENST00000395825.3_Nonsense_Mutation_p.Q181*			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	174	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CAGTCCTCCTGGGTGATGTCT	0.408000													13	57					0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96422565	96422565	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:96422565C>T	ENST00000359246.4	+	12	1788	c.1421C>T	c.(1420-1422)tCt>tTt	p.S474F	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	474	Pro-rich.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GAGCCCCCGTCTCCCATTGAG	0.562000													3	15					0	0	1	0	0
ATP5G2	517	broad.mit.edu	37	12	54062946	54062946	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:54062946G>A	ENST00000338662.5	-	4	1550	c.345C>T	c.(343-345)atC>atT	p.I115I	ATP5G2_ENST00000602871.1_Silent_p.I99I|ATP5G2_ENST00000394349.3_Silent_p.I156I|ATP5G2_ENST00000549164.1_Silent_p.I99I|ATP5G2_ENST00000550241.1_5'UTR	NM_001002031.2	NP_001002031.1	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	99					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CATAACCAATGATGAGGCTCC	0.502000													15	73					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271019	22271019	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:22271019A>G	ENST00000594947.1	+	4	611	c.467A>G	c.(466-468)aAg>aGg	p.K156R	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTCTTCTATAAGTTTTCAAAT	0.313000													7	26					0	0	1	0	0
CYB5R3	1727	broad.mit.edu	37	22	43023637	43023637	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:43023637G>A	ENST00000361740.4	-	6	619	c.620C>T	c.(619-621)tCt>tTt	p.S207F	CYB5R3_ENST00000352397.5_Missense_Mutation_p.S174F|CYB5R3_ENST00000407332.1_Missense_Mutation_p.S151F|CYB5R3_ENST00000402438.1_Missense_Mutation_p.S151F|CYB5R3_ENST00000407623.3_Missense_Mutation_p.S151F|CYB5R3_ENST00000396303.3_Missense_Mutation_p.S151F	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	174					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	CATGCCCACAGACTTCACTGT	0.612000													7	99					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103125307	103125307	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:103125307G>A	ENST00000295269.4	+	6	1860	c.1401_splice	c.e6-1	p.G468_splice		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	468					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTGATCTAGGGAATCACAGTT	0.333000													9	44					0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353697	45353697	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:45353697C>T	ENST00000359271.2	+	2	272	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	8						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CCCACCTGTCCTGCCTTTGTG	0.507000													27	84					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7476955	7476955	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:7476955C>T	ENST00000399422.4	+	10	1443	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	465					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						ATGGGTATTTCTGGTTTGTCG	0.453000													3	36					0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90958506	90958506	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:90958506C>T	ENST00000265433.3	-	13	2086	c.1932G>A	c.(1930-1932)caG>caA	p.Q644Q	NBN_ENST00000409330.1_Silent_p.Q562Q	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	644					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CACTATCATCCTGAAGTTTGT	0.333000								Homologous recombination					14	66					0	0	1	0	0
TCN2	6948	broad.mit.edu	37	22	31013451	31013451	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:31013451C>T	ENST00000215838.3	+	7	1569	c.1075C>T	c.(1075-1077)Ctg>Ttg	p.L359L	TCN2_ENST00000407817.3_Silent_p.L332L|TCN2_ENST00000405742.3_Silent_p.L355L			P20062	TCO2_HUMAN	transcobalamin II	359					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGAAGATGTCCTGAAGAAGGC	0.562000													6	86					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117836069	117836069	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:117836069C>T	ENST00000350763.4	-	10	3438	c.3027G>A	c.(3025-3027)ttG>ttA	p.L1009L	TNC_ENST00000346706.3_Silent_p.L1009L|TNC_ENST00000423613.2_Silent_p.L1009L|TNC_ENST00000340094.3_Silent_p.L1009L|TNC_ENST00000345230.3_Silent_p.L1009L|TNC_ENST00000542877.1_Silent_p.L1009L|TNC_ENST00000537320.1_Silent_p.L1009L|TNC_ENST00000535648.1_Silent_p.L1009L|TNC_ENST00000341037.4_Silent_p.L1009L	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1009	Fibronectin type-III 5.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAAATTTGGCCAACGGTGTCT	0.552000													10	44					0	0	1	0	0
NUGGC	389643	broad.mit.edu	37	8	27888832	27888832	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:27888832C>T	ENST00000413272.2	-	15	1978	c.1836G>A	c.(1834-1836)gaG>gaA	p.E612E	NUGGC_ENST00000341513.6_Silent_p.E612E	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		CTGTCATTTTCTCCTGCAGGG	0.428000													17	91					0	0	1	0	0
SLC7A9	11136	broad.mit.edu	37	19	33350846	33350846	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:33350846G>A	ENST00000023064.4	-	8	965	c.774C>T	c.(772-774)atC>atT	p.I258I	SLC7A9_ENST00000587772.1_Silent_p.I258I|SLC7A9_ENST00000590341.1_Silent_p.I258I	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	258					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GGGGGATCCCGATGATAATGG	0.617000													9	47					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176519753	176519753	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:176519753C>T	ENST00000292408.4	+	8	1270	c.1025C>T	c.(1024-1026)tCc>tTc	p.S342F	FGFR4_ENST00000393637.1_Missense_Mutation_p.S342F|FGFR4_ENST00000502906.1_Missense_Mutation_p.S342F|FGFR4_ENST00000292410.3_Missense_Mutation_p.S342F|FGFR4_ENST00000393648.2_Missense_Mutation_p.S342F	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	342	Ig-like C2-type 3.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	ATCGGCCTCTCCTACCAGTCT	0.637000										TSP Lung(9;0.080)			6	93					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170013930	170013930	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:170013930G>A	ENST00000263816.3	-	64	12255	c.11970C>T	c.(11968-11970)tcC>tcT	p.S3990S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3990	EGF-like 14.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGCTGTACAGGAGCAGATAA	0.358000													12	15					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150908151	150908151	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:150908151C>T	ENST00000329903.4	+	3	354	c.321C>T	c.(319-321)acC>acT	p.T107T		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	107					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					AGACTGTGACCACACAGGAGG	0.532000													16	66					0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136915686	136915686	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:136915686G>A	ENST00000303407.7	-	5	709	c.524C>T	c.(523-525)tCc>tTc	p.S175F	BRD3_ENST00000357885.2_Missense_Mutation_p.S175F|BRD3_ENST00000371834.2_Missense_Mutation_p.S175F	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	175						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGAGACAGAGGACACGGCCGC	0.597000			T	C15orf55	lethal midline carcinoma of young people								13	44					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55418495	55418495	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:55418495G>A	ENST00000312422.2	+	1	116	c.116G>A	c.(115-117)gGa>gAa	p.G39E		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				ATTCTTCTGGGAAATCTCCTC	0.388000													21	37					0	0	1	0	0
MVD	4597	broad.mit.edu	37	16	88723977	88723977	+	Silent	SNP	G	G	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:88723977G>C	ENST00000301012.3	-	4	299	c.270C>G	c.(268-270)gcC>gcG	p.A90A	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	90					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TCCGCTTCCGGGCCAGGCAGC	0.687000													14	39					0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134253824	134253824	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:134253824G>T	ENST00000524765.1	-	3	4915	c.371C>A	c.(370-372)cCg>cAg	p.P124Q	B3GAT1_ENST00000392580.1_Missense_Mutation_p.P124Q|B3GAT1_ENST00000537389.1_Missense_Mutation_p.P137Q|B3GAT1_ENST00000312527.4_Missense_Mutation_p.P124Q			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	124					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CGTCCGGCGCGGCGCATCCTC	0.706000													9	10					0.00829132	0.00835285	1	1	0
MYH7	4625	broad.mit.edu	37	14	23890239	23890239	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr14:23890239A>C	ENST00000355349.3	-	26	3426	c.3264T>G	c.(3262-3264)aaT>aaG	p.N1088K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1088					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CGTTGAGAGCATTCAGCTCAA	0.557000													7	43					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs115565146	by1000genomes	TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:32725596C>G	ENST00000435145.2	-	4	772	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000437316.2_Silent_p.L237L|HLA-DQB2_ENST00000411527.1_Intron			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562000													6	25					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22176928	22176928	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:22176928G>A	ENST00000374695.3	-	56	7301	c.7222C>T	c.(7222-7224)Cga>Tga	p.R2408*	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2408	Ig-like C2-type 9.				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)	CCCAACACTCGGCACACGTAC	0.657000													4	12					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110432829	110432829	+	Silent	SNP	T	T	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:110432829T>C	ENST00000378402.5	+	23	2711	c.2607T>C	c.(2605-2607)aaT>aaC	p.N869N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	869					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)			CCAAAACAAATGGGCCAACTA	0.373000										HNSCC(38;0.096)			19	63					0	0	1	0	0
RUVBL1	8607	broad.mit.edu	37	3	127816274	127816274	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:127816274G>A	ENST00000464873.1	-	8	1455	c.705C>T	c.(703-705)gtC>gtT	p.V235V	RUVBL1_ENST00000417360.1_Silent_p.V295V|RUVBL1_ENST00000322623.5_Silent_p.V295V			Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	295					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		GCACACCCGGGACCAGCTCAG	0.537000													12	52					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	226006	226006	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:226006T>G	ENST00000264932.6	+	5	580	c.465T>G	c.(463-465)aaT>aaG	p.N155K	SDHA_ENST00000504309.1_Missense_Mutation_p.N155K|SDHA_ENST00000510361.1_Missense_Mutation_p.N107K	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	155					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AGCTAGAAAATTATGGCATGC	0.413000									Familial Paragangliomas				22	128					0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40417506	40417506	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:40417506C>T	ENST00000333407.5	+	4	1086	c.992C>T	c.(991-993)tCa>tTa	p.S331L	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	331										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GCCTTGGTGTCAGGCTGCCGC	0.682000													61	84					0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362906	49362906	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:49362906C>T	ENST00000263265.6	-	7	1067	c.512G>A	c.(511-513)gGg>gAg	p.G171E	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G171E|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	171	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGGGCCCTCCCCGGGCTGGGG	0.612000													13	36					0	0	1	0	0
FSHB	2488	broad.mit.edu	37	11	30253555	30253555	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:30253555C>T	ENST00000417547.1	+	2	145	c.106C>T	c.(106-108)Cgt>Tgt	p.R36C	FSHB_ENST00000533718.1_Missense_Mutation_p.R36C|FSHB_ENST00000254122.3_Missense_Mutation_p.R36C	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	36					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	AGAAGAATGTCGTTTCTGCAT	0.453000													7	47					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139908812	139908812	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:139908812G>A	ENST00000265662.5	-	27	4195	c.4048C>T	c.(4048-4050)Ccg>Tcg	p.P1350S	ABCA2_ENST00000371605.3_Missense_Mutation_p.P1349S|ABCA2_ENST00000341511.6_Missense_Mutation_p.P1350S			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1349					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCAGACGCCGGGCCCTCCGCC	0.692000													3	8					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169697248	169697248	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:169697248G>A	ENST00000333360.7	-	8	1369	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	SELE_ENST00000367777.1_Silent_p.L410L|SELE_ENST00000367779.4_Intron|SELE_ENST00000367780.4_Intron|SELE_ENST00000367776.1_Intron|SELE_ENST00000367775.1_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367782.4_Silent_p.L410L|SELE_ENST00000367774.1_Intron|SELE_ENST00000367781.4_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	410	Sushi 4.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GGCCACATTGGAGCCTTTTGG	0.443000													47	103					0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126915855	126915855	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:126915855C>T	ENST00000398112.1	+	2	567	c.327C>T	c.(325-327)tcC>tcT	p.S109S		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		GGGGCGCCTCCAGCTTTGACC	0.577000													41	200					0	0	1	0	0
SLC18A1	6570	broad.mit.edu	37	8	20036652	20036652	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:20036652G>A	ENST00000440926.1	-	4	938	c.468C>T	c.(466-468)ttC>ttT	p.F156F	SLC18A1_ENST00000381608.4_Silent_p.F156F|SLC18A1_ENST00000265808.7_Silent_p.F156F|SLC18A1_ENST00000519026.1_Silent_p.F156F|SLC18A1_ENST00000276373.5_Silent_p.F156F|SLC18A1_ENST00000437980.1_Silent_p.F156F	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	156					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	p.F156L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		GAGGGCCCACGAATGGGTTGA	0.532000													6	43					0	0	1	0	0
FAF1	11124	broad.mit.edu	37	1	50941337	50941337	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:50941337G>A	ENST00000396153.2	-	18	2119	c.1668C>T	c.(1666-1668)tcC>tcT	p.S556S	FAF1_ENST00000371778.4_Silent_p.S556S|FAF1_ENST00000545823.1_Silent_p.S314S	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	556					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.S556S(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CTTGCTCTAAGGACAGCCGGA	0.542000													7	36					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27436085	27436085	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:27436085A>G	ENST00000295736.5	-	20	3084	c.3014T>C	c.(3013-3015)aTt>aCt	p.I1005T	SLC4A7_ENST00000445684.1_Missense_Mutation_p.I1001T|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Missense_Mutation_p.I881T|SLC4A7_ENST00000435667.2_Missense_Mutation_p.I890T|SLC4A7_ENST00000437179.1_Missense_Mutation_p.I886T|SLC4A7_ENST00000454389.1_Missense_Mutation_p.I1014T|SLC4A7_ENST00000446700.1_Missense_Mutation_p.I997T|SLC4A7_ENST00000455077.1_Missense_Mutation_p.I886T|SLC4A7_ENST00000440156.1_Missense_Mutation_p.I1001T|SLC4A7_ENST00000388777.4_Missense_Mutation_p.I555T	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1005						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CTGTTCACGAATTCCCAAAAA	0.408000													17	77					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126328293	126328293	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:126328293C>T	ENST00000394329.3	+	3	5579	c.5566C>T	c.(5566-5568)Cct>Tct	p.P1856S	FAT4_ENST00000335110.5_Missense_Mutation_p.P154S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1856	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGACACAATCCCTGGTAGGTG	0.383000													13	106					0	0	1	0	0
GALK1	2584	broad.mit.edu	37	17	73754178	73754178	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:73754178G>A	ENST00000588479.1	-	8	1712	c.1138C>T	c.(1138-1140)Ctc>Ttc	p.L380F	GALK1_ENST00000225614.2_Missense_Mutation_p.L380F|GALK1_ENST00000437911.1_Missense_Mutation_p.L410F			P51570	GALK1_HUMAN	galactokinase 1	380					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTTGAGAGAGGTAGAAGGTG	0.697000													3	20					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3600430	3600430	+	RNA	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:3600430C>T	ENST00000301749.7	-	0	2824				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCTCCAGGCCCTGGTTCACC	0.572000													6	55					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100211379	100211379	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:100211379C>T	ENST00000524871.1	+	22	3205	c.2915C>T	c.(2914-2916)tCc>tTc	p.S972F	CNTN5_ENST00000528682.1_Missense_Mutation_p.S972F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S972F|CNTN5_ENST00000418526.2_Missense_Mutation_p.S898F|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	972					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACCAAGAAATCCCGTAAGTGA	0.443000													5	15					0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111490692	111490692	+	Silent	SNP	T	T	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:111490692T>A	ENST00000369763.4	-	4	2589	c.2199A>T	c.(2197-2199)ccA>ccT	p.P733P	LRIF1_ENST00000494675.1_Silent_p.P197P|LRIF1_ENST00000485275.2_Silent_p.P197P|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CTAACTCCGGTGGTGTCACTG	0.373000													10	93					0	0	1	0	0
TBC1D21	161514	broad.mit.edu	37	15	74178926	74178926	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:74178926C>T	ENST00000300504.2	+	8	833	c.750C>T	c.(748-750)tcC>tcT	p.S250S	TBC1D21_ENST00000562056.1_Silent_p.S213S|TBC1D21_ENST00000535547.2_Silent_p.S214S	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	250	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CCTTCAAGTCCTTCGATGATG	0.592000													4	29					0	0	1	0	0
C1orf159	54991	broad.mit.edu	37	1	1019746	1019746	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:1019746C>T	ENST00000448924.1	-	10	1028	c.597G>A	c.(595-597)ccG>ccA	p.P199P	C1orf159_ENST00000379320.1_Silent_p.P163P|C1orf159_ENST00000421241.2_Silent_p.P163P|C1orf159_ENST00000379319.1_Silent_p.P163P|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000379339.1_Silent_p.P199P|C1orf159_ENST00000294576.5_Silent_p.P163P			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	199						integral to membrane						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		AGGACTGTGGCGGGGGGATCA	0.622000													6	20					0	0	1	0	0
CPLX1	10815	broad.mit.edu	37	4	786358	786358	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:786358C>T	ENST00000304062.6	-	3	301	c.70G>A	c.(70-72)Gag>Aag	p.E24K	CPLX1_ENST00000505203.1_Missense_Mutation_p.E24K	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN	complexin 1	24					glutamate secretion	cytosol				kidney(1)|lung(2)	3				Colorectal(103;0.187)		TCCTTCTCCTCGTCACCCCCC	0.642000													11	111					0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45245887	45245887	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:45245887G>A	ENST00000263765.4	+	8	1213	c.964G>A	c.(964-966)Gat>Aat	p.D322N	PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000530656.1_Missense_Mutation_p.D322N|PRDM11_ENST00000424263.2_Missense_Mutation_p.D288N|CTD-2560E9.3_ENST00000527450.1_RNA			Q9NQV5	PRD11_HUMAN	PR domain containing 11	322										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GCGTGGCTTTGATGAGGGGGA	0.512000													30	150					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170351479	170351479	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:170351479G>A	ENST00000523189.1	+	12	1557	c.1393G>A	c.(1393-1395)Gac>Aac	p.D465N		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	465					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAGTTATTCGACCAAAATGC	0.418000			T	TRD@	ALL								8	41					0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95092199	95092199	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr13:95092199G>A	ENST00000377028.5	-	8	1926	c.1513C>T	c.(1513-1515)Cta>Tta	p.L505L	DCT_ENST00000446125.1_Silent_p.L538L	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	505					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GTCTCCATTAGGGGTGTATAT	0.453000													7	66					0	0	1	0	0
CPT1B	1375	broad.mit.edu	37	22	51012928	51012928	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:51012928G>A	ENST00000360719.2	-	8	1016	c.879C>T	c.(877-879)atC>atT	p.I293I	CPT1B_ENST00000312108.7_Silent_p.I293I|CPT1B_ENST00000405237.3_Silent_p.I293I|CPT1B_ENST00000434492.2_Silent_p.I90I|CPT1B_ENST00000440709.1_Silent_p.I293I|CPT1B_ENST00000457250.1_Silent_p.I259I|CPT1B_ENST00000395650.2_Silent_p.I293I|CHKB-CPT1B_ENST00000453634.1_3'UTR	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	293					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TCACAGGCTTGATTTCTTCAC	0.557000													13	165					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340089	55340089	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:55340089G>A	ENST00000314634.3	+	1	486	c.486G>A	c.(484-486)ctG>ctA	p.L162L		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	162					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)				TTCTTGCCCTGAGTTTGCCAT	0.468000													25	114					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17081740	17081740	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:17081740C>T	ENST00000443236.1	-	18	2346	c.2315G>A	c.(2314-2316)gGg>gAg	p.G772E	CPAMD8_ENST00000388925.4_3'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	725						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CACCAGGCTCCCTGTGTGGGG	0.602000													9	59					0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15918002	15918002	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:15918002G>A	ENST00000334920.2	-	1	934	c.846C>T	c.(844-846)ctC>ctT	p.L282L		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						GGAAGGGTGTGAGGACCGTGT	0.512000													11	71					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96051720	96051720	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:96051720C>T	ENST00000297954.4	+	20	4795	c.4795C>T	c.(4795-4797)Cag>Tag	p.Q1599*	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Nonsense_Mutation_p.Q1174*|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Nonsense_Mutation_p.Q1211*|WNK2_ENST00000395477.2_Nonsense_Mutation_p.Q1562*			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1599					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCTGCTCTACCAGGAGCACGT	0.677000													6	31					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003865	122003865	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:122003865G>A	ENST00000498619.1	+	7	3532	c.3094G>A	c.(3094-3096)Gac>Aac	p.D1032N	CASR_ENST00000490131.1_Missense_Mutation_p.D1022N|CASR_ENST00000296154.5_Missense_Mutation_p.D1022N	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	1022					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CGGGGAAACGGACTTAGATCT	0.592000													14	75					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579480	55579480	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:55579480G>A	ENST00000333973.2	+	1	627	c.538G>A	c.(538-540)Gat>Aat	p.D180N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTTTTTCTGTGATCTACCTCC	0.428000													34	184					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142199133	142199133	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:142199133G>A	ENST00000519811.1	+	19	3203	c.3133G>A	c.(3133-3135)Gac>Aac	p.D1045N	DENND3_ENST00000262585.2_Missense_Mutation_p.D965N|DENND3_ENST00000424248.1_Missense_Mutation_p.D913N|DENND3_ENST00000523308.1_Missense_Mutation_p.D15N			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	965										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCTCGGAAGACTCCGTCAT	0.542000													13	40					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9057396	9057396	+	Missense_Mutation	SNP	G	G	T	rs141284390	byFrequency	TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:9057396G>T	ENST00000383836.3	-	15	2125	c.1698C>A	c.(1696-1698)gaC>gaA	p.D566E	SRGAP3-AS1_ENST00000414633.1_RNA|SRGAP3_ENST00000360413.3_Missense_Mutation_p.D542E|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	566	Rho-GAP.				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)		CATTTTGATCGTCCACAAGGG	0.448000			T	RAF1	pilocytic astrocytoma								8	71					0.000274275	0.00027734	1	1	0
CDC42BPA	8476	broad.mit.edu	37	1	227239638	227239638	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:227239638G>A	ENST00000366766.2	-	22	3895	c.2953C>T	c.(2953-2955)Cac>Tac	p.H985Y	CDC42BPA_ENST00000535525.1_Intron|CDC42BPA_ENST00000334218.5_Intron|CDC42BPA_ENST00000366769.3_Intron|CDC42BPA_ENST00000366764.2_Intron|CDC42BPA_ENST00000366767.3_Intron|CDC42BPA_ENST00000366765.3_Intron			Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	968					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GACTGGATGTGAAACTTGACG	0.438000													23	54					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934607	30934607	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:30934607C>T	ENST00000355537.3	+	2	285	c.138C>T	c.(136-138)gcC>gcT	p.A46A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCAGCCATGCCTTCCCCGAGC	0.677000													23	112					0	0	1	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146030138	146030138	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:146030138C>T	ENST00000394413.3	-	5	1167	c.597G>A	c.(595-597)tgG>tgA	p.W199*	PPP2R2B_ENST00000394410.2_Nonsense_Mutation_p.W188*|PPP2R2B_ENST00000336640.6_Nonsense_Mutation_p.W202*|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394409.3_Nonsense_Mutation_p.W257*|PPP2R2B_ENST00000356826.3_Nonsense_Mutation_p.W199*|PPP2R2B_ENST00000504198.1_Nonsense_Mutation_p.W205*|PPP2R2B_ENST00000394414.1_Nonsense_Mutation_p.W265*|PPP2R2B_ENST00000508545.2_Nonsense_Mutation_p.W188*|PPP2R2B_ENST00000453001.1_Nonsense_Mutation_p.W199*|PPP2R2B_ENST00000394411.4_Nonsense_Mutation_p.W199*			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	199					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)			TTTCAAAGTTCCATAGGTTAA	0.413000													7	35					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215823979	215823979	+	Silent	SNP	A	A	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:215823979A>G	ENST00000366943.2	-	65	14684	c.14298T>C	c.(14296-14298)agT>agC	p.S4766S	USH2A_ENST00000307340.3_Silent_p.S4766S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4766	Fibronectin type-III 33.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.S4766S(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCTGTAGAGACTGACGATCC	0.532000										HNSCC(13;0.011)			46	94					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47400027	47400027	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:47400027C>T	ENST00000457840.2	-	7	745	c.442G>A	c.(442-444)Gag>Aag	p.E148K	CYP4A11_ENST00000310638.4_Silent_p.G303G|CYP4A11_ENST00000475477.1_Intron|CYP4A11_ENST00000371904.4_Silent_p.G304G|CYP4A11_ENST00000371905.1_Silent_p.G303G			Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	0					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	ACAAGATGCTCCCATTCTCCA	0.527000													7	20					0	0	1	0	0
HYLS1	219844	broad.mit.edu	37	11	125769315	125769315	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:125769315G>A	ENST00000425380.2	+	3	833	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	HYLS1_ENST00000356438.3_Missense_Mutation_p.E18K|HYLS1_ENST00000526028.1_Missense_Mutation_p.E18K|PUS3_ENST00000227474.3_Intron	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	18						centrosome|nucleus				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		GGATCCAGAAGAACGAATGTT	0.463000													15	37					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479964	142479964	+	RNA	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:142479964G>A	ENST00000603901.1	+	0	96					NR_001296.3																						CCTGTGAGGAGAATTCTGTCC	0.537000													31	102					0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85397137	85397137	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:85397137G>A	ENST00000370608.3	-	12	1517	c.1450C>T	c.(1450-1452)Cgt>Tgt	p.R484C	MCOLN2_ENST00000284027.5_Missense_Mutation_p.R456C	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	484						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		AAATACAGACGACTGAACAGC	0.383000													17	63					0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64855044	64855044	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr14:64855044C>T	ENST00000545908.1	+	1	296	c.67C>T	c.(67-69)Cca>Tca	p.P23S	MTHFD1_ENST00000216605.7_Missense_Mutation_p.P23S|MTHFD1_ENST00000555709.1_5'UTR|MTHFD1_ENST00000555252.1_5'UTR			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	0	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GATCCCCTGGCCAGTCCCTAA	0.622000													9	38					0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73836014	73836014	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:73836014T>A	ENST00000207549.4	-	12	1340	c.961A>T	c.(961-963)Acc>Tcc	p.T321S	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Missense_Mutation_p.T321S	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	321	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCCAGGAGGTGCTTCCCGCC	0.662000									Familial Hemophagocytic Lymphohistiocytosis				10	58					0	0	1	0	0
BRICD5	283870	broad.mit.edu	37	16	2259598	2259598	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:2259598C>T	ENST00000328540.3	-	5	1664	c.548G>A	c.(547-549)cGc>cAc	p.R183H	BRICD5_ENST00000562360.1_Missense_Mutation_p.R183H	NM_182563.3	NP_872369.2			BRICHOS domain containing 5																		CATGCACAGGCGCTGCACCAA	0.692000													34	146					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31692639	31692639	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:31692639G>A	ENST00000375483.3	+	14	1704	c.1704G>A	c.(1702-1704)gtG>gtA	p.V568V	BPIFB4_ENST00000494121.1_3'UTR	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	568						cytoplasm|extracellular region	lipid binding										AGGTGCTGGTGGAGAAGATTT	0.602000													10	62					0	0	1	0	0
ZC3H10	84872	broad.mit.edu	37	12	56515462	56515462	+	Silent	SNP	A	A	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:56515462A>C	ENST00000257940.2	+	3	1392	c.1116A>C	c.(1114-1116)acA>acC	p.T372T	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	372	Pro-rich.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			TGGCTCAAACAATTGCCCAGG	0.617000													17	49					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67911677	67911677	+	Missense_Mutation	SNP	A	A	G	rs111231628	byFrequency	TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:67911677A>G	ENST00000358933.5	+	7	1062	c.823A>G	c.(823-825)Agc>Ggc	p.S275G	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	275					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GCTCCGCTCCAGCCACAGTAC	0.597000													4	60					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19747144	19747144	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:19747144C>T	ENST00000507958.1	-	6	1420	c.430G>A	c.(430-432)Gag>Aag	p.E144K	CDH18_ENST00000511273.1_Missense_Mutation_p.E144K|CDH18_ENST00000506372.1_Missense_Mutation_p.E144K|CDH18_ENST00000502796.1_Missense_Mutation_p.E144K|CDH18_ENST00000382275.1_Missense_Mutation_p.E144K|CDH18_ENST00000274170.4_Missense_Mutation_p.E144K			Q13634	CAD18_HUMAN	cadherin 18, type 2	144	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ATGATGAACTCGGATTCAGGC	0.423000													9	88					0	0	1	0	0
CD244	51744	broad.mit.edu	37	1	160802334	160802334	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:160802334G>A	ENST00000368034.4	-	8	1169	c.992C>T	c.(991-993)tCc>tTc	p.S331F	CD244_ENST00000368033.3_Missense_Mutation_p.S336F|CD244_ENST00000481677.1_5'UTR|CD244_ENST00000322302.7_Missense_Mutation_p.S239F	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	336					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTATTGAAGGAAGGGCTGTG	0.433000													24	41					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	83926279	83926279	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:83926279C>T	ENST00000369705.3	-	13	1602	c.1486G>A	c.(1486-1488)Gag>Aag	p.E496K	ME1_ENST00000543031.1_Missense_Mutation_p.E421K|ME1_ENST00000541327.1_Missense_Mutation_p.E330K	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	496					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	p.E496K(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AGCCGACCCTCTTCCAAGTGT	0.363000													15	70					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	79174652	79174652	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:79174652C>T	ENST00000464233.1	-	3	239	c.126G>A	c.(124-126)acG>acA	p.T42T		NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	42					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)		TGGGGATTGGCGTCCCGTGGT	0.507000													6	16					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739224	119739224	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:119739224G>A	ENST00000541757.1	+	11	1039	c.659G>A	c.(658-660)gGa>gAa	p.G220E	MARCO_ENST00000327097.4_Missense_Mutation_p.G298E			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	298	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGAGCTAAAGGAGATCAAGGT	0.433000													6	63					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25468313	25468313	+	RNA	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:25468313C>T	ENST00000453082.2	+	0	861					NR_003343.1																						CTTCCTGGCGCCCTGGTCTCC	0.582000													30	109					0	0	1	0	0
TSTA3	7264	broad.mit.edu	37	8	144697044	144697044	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:144697044G>A	ENST00000425753.2	-	4	406	c.303C>T	c.(301-303)gcC>gcT	p.A101A	TSTA3_ENST00000529064.1_Silent_p.A101A	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	101					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	CCACCTCAAAGGCCGAGTGCA	0.612000													9	66					0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136915685	136915685	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:136915685G>A	ENST00000303407.7	-	5	710	c.525C>T	c.(523-525)tcC>tcT	p.S175S	BRD3_ENST00000357885.2_Silent_p.S175S|BRD3_ENST00000371834.2_Silent_p.S175S	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	175						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGGAGACAGAGGACACGGCCG	0.597000			T	C15orf55	lethal midline carcinoma of young people								12	44					0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035855	110035855	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:110035855A>G	ENST00000453089.2	+	5	2833	c.1952A>G	c.(1951-1953)gAc>gGc	p.D651G	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D683G|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.D682G			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	682							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		AATTTCCACGACCCCTTAACC	0.552000													61	190					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134026040	134026040	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:134026040C>A	ENST00000359428.5	+	16	2309	c.2165C>A	c.(2164-2166)gCc>gAc	p.A722D	RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.A723D|NUP214_ENST00000411637.2_Missense_Mutation_p.A712D			P35658	NU214_HUMAN	nucleoporin 214kDa	722	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GAGTTAAAAGCCCGAACTTCC	0.433000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								27	75					2.44723e-14	2.52153e-14	1	1	0
DCHS2	54798	broad.mit.edu	37	4	155157164	155157164	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:155157164G>A	ENST00000357232.3	-	25	7274	c.7275C>T	c.(7273-7275)ttC>ttT	p.F2425F		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2425	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATCTTGAGTGAAAATGGGCT	0.443000													10	64					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10264999	10264999	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:10264999G>A	ENST00000340748.4	-	21	2176	c.1941C>T	c.(1939-1941)gcC>gcT	p.A647A	DNMT1_ENST00000540357.1_Silent_p.A647A|DNMT1_ENST00000359526.4_Silent_p.A663A			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	647					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GGCGCTTAAAGGCGTTCTCCT	0.562000													30	136					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50758401	50758401	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:50758401G>A	ENST00000404971.1	-	12	3770	c.2431C>T	c.(2431-2433)Cta>Tta	p.L811L	NRXN1_ENST00000405472.3_Silent_p.L763L|NRXN1_ENST00000406316.2_Silent_p.L771L|NRXN1_ENST00000406859.3_Silent_p.L771L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Silent_p.L771L|NRXN1_ENST00000402717.3_Silent_p.L763L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	771	Laminin G-like 4.				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)			CCTGCGTCTAGCTCCAGGCGG	0.493000													5	30					0	0	1	0	0
DOK1	1796	broad.mit.edu	37	2	74783860	74783860	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:74783860C>T	ENST00000233668.5	+	5	1734	c.1065C>T	c.(1063-1065)gaC>gaT	p.D355D	DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000409429.1_Silent_p.D216D|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	355					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGCTGACAGACCCCAAAGAGG	0.572000													18	68					0	0	1	0	0
EPPIN	57119	broad.mit.edu	37	20	44174441	44174441	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:44174441C>T	ENST00000336443.3	-	1	575	c.12G>A	c.(10-12)aaG>aaA	p.K4K	EPPIN_ENST00000409554.1_Intron|EPPIN-WFDC6_ENST00000504988.1_Intron|EPPIN_ENST00000354280.4_Intron|EPPIN_ENST00000555685.1_Intron					epididymal peptidase inhibitor																		ACCCGTGTGCCTTAGAGAGCA	0.468000													27	55					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103070115	103070115	+	Silent	SNP	T	T	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:103070115T>C	ENST00000375735.2	+	49	8142	c.7998T>C	c.(7996-7998)tcT>tcC	p.S2666S	DYNC2H1_ENST00000398093.3_Silent_p.S2666S|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2666	AAA 4 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCATCACTTCTTTAGTCAGTC	0.448000													5	20					0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39374260	39374260	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:39374260G>A	ENST00000414803.1	+	3	336	c.265G>A	c.(265-267)Gat>Aat	p.D89N	CCR8_ENST00000326306.4_Silent_p.T146T|CCR8_ENST00000545843.1_Silent_p.T63T			P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	0					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		AGGTGAGGACGATCAGGATGG	0.507000													38	195					0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127426930	127426930	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:127426930C>T	ENST00000337623.3	+	14	1900	c.1795C>T	c.(1795-1797)Cca>Tca	p.P599S	C10orf137_ENST00000356792.4_Missense_Mutation_p.P633S	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	633					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCCCAGCACTCCAATCCCGTT	0.433000													11	63					0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6631074	6631074	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:6631074G>A	ENST00000333172.6	+	2	490	c.297G>A	c.(295-297)ggG>ggA	p.G99G	TAS1R1_ENST00000328191.4_Silent_p.G99G|TAS1R1_ENST00000351136.3_Silent_p.G99G	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	99					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TCACCCTGGGGTACCAGCTGT	0.557000													27	148					0	0	1	0	0
KLHL35	283212	broad.mit.edu	37	11	75136525	75136525	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:75136525C>T	ENST00000539798.1	-	4	1286	c.1287G>A	c.(1285-1287)gaG>gaA	p.E429E	KLHL35_ENST00000376292.4_Silent_p.E209E	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	209										lung(2)|stomach(1)	3						AGCTCACGGCCTCCGGGAGGG	0.736000													3	17					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37687014	37687014	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:37687014C>T	ENST00000447079.4	+	14	3951	c.3918C>T	c.(3916-3918)tcC>tcT	p.S1306S	CDK12_ENST00000430627.2_Silent_p.S1297S	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1306					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AACTTTTATCCCAGCCTGAAG	0.612000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			15	194					0	0	1	0	0
NOC3L	64318	broad.mit.edu	37	10	96106293	96106293	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:96106293G>A	ENST00000371361.3	-	11	1378	c.1278C>T	c.(1276-1278)tgC>tgT	p.C426C	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000543788.1_Silent_p.C164C|NOC3L_ENST00000371350.1_Silent_p.C426C	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	426						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TGATTCTTAGGCATAAAAATG	0.244000													5	18					0	0	1	0	0
FARS2	10667	broad.mit.edu	37	6	5368904	5368904	+	Missense_Mutation	SNP	C	C	T	rs148568494	byFrequency	TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:5368904C>T	ENST00000324331.6	+	2	437	c.101C>T	c.(100-102)tCg>tTg	p.S34L	FARS2_ENST00000274680.4_Missense_Mutation_p.S34L			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	34					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	GCCTGGGGATCGAGGCCTCCT	0.602000													26	61					0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19628996	19628996	+	Silent	SNP	T	T	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr21:19628996T>C	ENST00000299295.2	+	2	641	c.250T>C	c.(250-252)Ttg>Ctg	p.L84L	CHODL_ENST00000543733.1_Silent_p.L65L|CHODL_ENST00000400131.1_Silent_p.L43L|CHODL_ENST00000400128.1_Silent_p.L43L|CHODL_ENST00000400127.1_Silent_p.L43L|CHODL_ENST00000338326.3_Silent_p.L43L|CHODL_ENST00000400135.1_Silent_p.L43L	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	84	C-type lectin.				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)		AGAGAGCATGTTGCAAAACCT	0.517000													20	75					0	0	1	0	0
NCF1	653361	broad.mit.edu	37	7	74197909	74197909	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:74197909C>T	ENST00000289473.4	+	7	686	c.616C>T	c.(616-618)Cca>Tca	p.P206S	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.3	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	206	SH3 1.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						AGGCTGGATCCCAGCGTCCTT	0.642000													10	71					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22710798	22710798	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr21:22710798C>T	ENST00000400546.1	+	8	1237	c.988C>T	c.(988-990)Cca>Tca	p.P330S	NCAM2_ENST00000284894.7_Missense_Mutation_p.P188S|NCAM2_ENST00000535285.1_Missense_Mutation_p.P355S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	330	Ig-like C2-type 4.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GGAGCCTATTCCAGAAATCAC	0.403000													15	32					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73471044	73471044	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:73471044G>A	ENST00000252034.7	+	21	1756		c.e21+1		ELN_ENST00000320492.7_Splice_Site|ELN_ENST00000445912.1_Splice_Site|ELN_ENST00000458204.1_Splice_Site|ELN_ENST00000380553.4_Splice_Site|ELN_ENST00000414324.1_Splice_Site|ELN_ENST00000380562.4_Splice_Site|ELN_ENST00000380575.4_Splice_Site|ELN_ENST00000380576.5_Splice_Site|ELN_ENST00000429192.1_Splice_Site|ELN_ENST00000380584.4_Splice_Site|ELN_ENST00000358929.4_Splice_Site|ELN_ENST00000357036.5_Splice_Site|ELN_ENST00000320399.6_Splice_Site	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin						blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GCCAAGTACGGTAAGTGCCCC	0.627000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						11	56					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936151	4936151	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:4936151G>A	ENST00000322013.3	-	1	771	c.743C>T	c.(742-744)tCc>tTc	p.S248F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGATGTGGGAAACACAGGT	0.552000													15	71					0	0	1	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122514	153122514	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:153122514C>T	ENST00000368748.4	-	2	111	c.73G>A	c.(73-75)Gag>Aag	p.E25K		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	25	3 X 9 AA approximate tandem repeats.				keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGACATGGCTCTGGGCACTTT	0.592000													39	78					0	0	1	0	0
CSTA	1475	broad.mit.edu	37	3	122060290	122060290	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:122060290G>A	ENST00000264474.3	+	3	222	c.173G>A	c.(172-174)cGa>cAa	p.R58Q		NM_005213.3	NP_005204.1	P01040	CYTA_HUMAN	cystatin A (stefin A)	58					keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity			large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		TTTCAGGTACGAGCAGGTGAT	0.378000													11	55					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17311587	17311587	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:17311587G>C	ENST00000595618.1	+	26	4664	c.4512G>C	c.(4510-4512)caG>caC	p.Q1504H	MYO9B_ENST00000594824.1_Missense_Mutation_p.Q1504H|MYO9B_ENST00000397274.2_Missense_Mutation_p.Q1504H	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1504	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGTTCCGCCAGATCACCAACG	0.577000													18	69					0	0	1	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018798	1018798	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:1018798C>T	ENST00000398484.2	+	8	1758	c.1178C>T	c.(1177-1179)aCc>aTc	p.T393I	FGFRL1_ENST00000264748.6_Missense_Mutation_p.T393I|FGFRL1_ENST00000504138.1_Missense_Mutation_p.T393I|FGFRL1_ENST00000510644.1_Missense_Mutation_p.T393I			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	393					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ATCCTGGGCACCCTGCTCCTG	0.736000													9	43					0	0	1	0	0
PRL	5617	broad.mit.edu	37	6	22287667	22287667	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:22287667G>A	ENST00000306482.1	-	5	1166	c.648C>T	c.(646-648)ctC>ctT	p.L216L	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	216					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GGCACTTCAGGAGCTTGAGAT	0.448000													28	106					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103352589	103352589	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:103352589C>T	ENST00000358392.2	-	63	4985	c.4668G>A	c.(4666-4668)caG>caA	p.Q1556Q	COL11A1_ENST00000353414.4_Silent_p.Q1505Q|COL11A1_ENST00000370096.3_Silent_p.Q1544Q|COL11A1_ENST00000512756.1_Silent_p.Q1428Q	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1544	Nonhelical region (C-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)		TTGGTAAAGGCTGAATGACTT	0.373000													16	99					0	0	1	0	0
SMR3B	10879	broad.mit.edu	37	4	71255502	71255502	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:71255502C>T	ENST00000304915.3	+	3	326	c.177C>T	c.(175-177)atC>atT	p.I59I	SMR3B_ENST00000504825.1_Silent_p.I59I	NM_006685.3	NP_006676.1			submaxillary gland androgen regulated protein 3B											large_intestine(2)|lung(3)|skin(2)	7		all_hematologic(202;0.196)				CAGGGAGAATCCCACCTCCTC	0.597000													12	87					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40852466	40852466	+	Silent	SNP	C	C	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:40852466C>A	ENST00000254691.5	+	3	1231	c.1032C>A	c.(1030-1032)atC>atA	p.I344I	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	344					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GGGATTCAATCCTCAGTCACA	0.468000													4	44					0.00909568	0.00914621	1	1	0
THUMPD2	80745	broad.mit.edu	37	2	39997187	39997187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:39997187C>T	ENST00000505747.1	-	3	362	c.335G>A	c.(334-336)tGg>tAg	p.W112*	THUMPD2_ENST00000454352.2_Nonsense_Mutation_p.W82*|THUMPD2_ENST00000403537.3_5'UTR|THUMPD2_ENST00000260619.6_Nonsense_Mutation_p.W82*	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	112							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				AAGATTTTTCCAAATTGAAAT	0.299000													5	26					0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37440439	37440439	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:37440439C>T	ENST00000415168.1	+	5	568	c.192C>T	c.(190-192)atC>atT	p.I64I	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Silent_p.I128I|ZNF568_ENST00000427117.1_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	128	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGAACAGATCAAGAAGCAAC	0.323000													3	26					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40981585	40981585	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:40981585G>A	ENST00000313164.9	+	18	2801	c.2442G>A	c.(2440-2442)acG>acA	p.T814T		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	814	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AGGAGCAGACGATGTCTGAGT	0.557000													4	22					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930631	46930631	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:46930631G>A	ENST00000264318.3	-	9	2258	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	426					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			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAGTAAGACCGAGGTGTGCCT	0.448000													16	88					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515383	51515383	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:51515383C>T	ENST00000328188.1	+	1	102	c.102C>T	c.(100-102)atC>atT	p.I34I		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TCATCTATATCATCACTGTGG	0.438000													32	140					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167263080	167263080	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:167263080G>A	ENST00000409855.1	-	25	4185	c.4059C>T	c.(4057-4059)atC>atT	p.I1353I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1353					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GCATGTGAATGATCCGTGAGA	0.458000													17	71					0	0	1	0	0
CPNE1	8904	broad.mit.edu	37	20	34219456	34219456	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:34219456G>A	ENST00000317619.3	-	10	1066	c.672C>T	c.(670-672)atC>atT	p.I224I	CPNE1_ENST00000397442.1_Silent_p.I224I|CPNE1_ENST00000397443.1_Silent_p.I224I|CPNE1_ENST00000397445.1_Silent_p.I224I|CPNE1_ENST00000317677.5_Silent_p.I229I|CPNE1_ENST00000352393.4_Silent_p.I224I|CPNE1_ENST00000397446.1_Silent_p.I224I			Q99829	CPNE1_HUMAN	copine I	224	C2 2.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGAAGGTACCGATGAGATCAT	0.547000													13	35					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209138364	209138364	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:209138364C>T	ENST00000264380.4	+	3	387	c.229C>T	c.(229-231)Cct>Tct	p.P77S	PIKFYVE_ENST00000308862.6_Missense_Mutation_p.P77S|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.P77S|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.P77S	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	77					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTGGACCAGCCCTCAGCTCCC	0.502000													14	53					0	0	1	0	0
LCMT2	9836	broad.mit.edu	37	15	43620829	43620829	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:43620829G>A	ENST00000305641.5	-	1	1974	c.1859C>T	c.(1858-1860)aCt>aTt	p.T620I	LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_Missense_Mutation_p.T199I	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	620					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	CAATCCTGTAGTCAAATTGAT	0.438000													11	53					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46976845	46976845	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:46976845C>T	ENST00000371253.2	-	11	2541	c.2326G>A	c.(2326-2328)Gaa>Aaa	p.E776K	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.E579K	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	776					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CTCAGTCTTTCCCCAACAGTC	0.562000													12	44					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81297574	81297574	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr14:81297574G>A	ENST00000555265.1	-	13	1497	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	CEP128_ENST00000216517.6_Silent_p.F374F|CEP128_ENST00000281129.3_Silent_p.F374F			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	374						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						CCATTGCGCTGAAGTTCAGCT	0.448000													21	82					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124044922	124044922	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:124044922C>T	ENST00000360013.3	+	7	1309	c.1182C>T	c.(1180-1182)acC>acT	p.T394T	KALRN_ENST00000240874.3_Silent_p.T394T|KALRN_ENST00000460856.1_Silent_p.T394T	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	394					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGATCTCCACCCAGCTGGACC	0.557000													25	88					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7173839	7173839	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:7173839G>A	ENST00000406697.1	+	11	1517	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	C1S_ENST00000360817.5_Missense_Mutation_p.E297K|C1S_ENST00000328916.3_Missense_Mutation_p.E297K|C1S_ENST00000402681.3_Missense_Mutation_p.E130K			P09871	C1S_HUMAN	complement component 1, s subcomponent	297	Sushi 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CTGCCCTAAGGAAGACACTCC	0.423000													3	42					0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23517518	23517518	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr14:23517518G>A	ENST00000397359.3	-	13	2390	c.2131C>T	c.(2131-2133)Ccc>Tcc	p.P711S	CDH24_ENST00000554034.1_Missense_Mutation_p.P673S|CDH24_ENST00000267383.5_Missense_Mutation_p.P711S|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000487137.2_Missense_Mutation_p.P673S	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	711					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		ggcgccgggggggccgccccg	0.761000													16	111					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734875	12734875	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:12734875A>G	ENST00000380682.1	+	15	2803	c.2297A>G	c.(2296-2298)aAc>aGc	p.N766S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	766					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GGGGAGATGAACCAGCCGGCC	0.562000													34	118					0	0	1	0	0
PNPLA3	80339	broad.mit.edu	37	22	44332975	44332975	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:44332975G>A	ENST00000216180.3	+	6	975	c.802G>A	c.(802-804)Ggg>Agg	p.G268R	PNPLA3_ENST00000423180.2_Missense_Mutation_p.G264R	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	268					triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				ATCCTCAGAAGGGATGGATCC	0.597000													25	48					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67942593	67942593	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:67942593C>T	ENST00000304363.4	-	5	788	c.435G>A	c.(433-435)aaG>aaA	p.K145K	SUV420H1_ENST00000401547.2_Silent_p.K145K|SUV420H1_ENST00000402185.2_Silent_p.K122K|SUV420H1_ENST00000405515.1_Silent_p.K145K|SUV420H1_ENST00000402789.1_Silent_p.K145K	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GTTCATCTTTCTTAAAACGTT	0.368000													11	90					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170800057	170800057	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:170800057A>T	ENST00000436636.2	-	27	3640	c.3296T>A	c.(3295-3297)gTc>gAc	p.V1099D	TNIK_ENST00000369326.5_Missense_Mutation_p.V1077D|TNIK_ENST00000470834.1_Missense_Mutation_p.V1062D|TNIK_ENST00000538048.1_Missense_Mutation_p.V1051D|TNIK_ENST00000460047.1_Missense_Mutation_p.V1036D|TNIK_ENST00000341852.6_Missense_Mutation_p.V1015D|TNIK_ENST00000488470.1_Missense_Mutation_p.V1044D|TNIK_ENST00000357327.5_Missense_Mutation_p.V1070D|TNIK_ENST00000284483.8_Missense_Mutation_p.V1091D|TNIK_ENST00000475336.1_Missense_Mutation_p.V1007D	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1099	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGTCACAAGGACATTCAGTCC	0.473000													6	20					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120195222	120195222	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:120195222G>A	ENST00000392521.2	-	22	2714	c.2659C>T	c.(2659-2661)Cac>Tac	p.H887Y	CIT_ENST00000261833.7_Missense_Mutation_p.H845Y|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	845					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTGTCACTGTGGTCTTGGTGG	0.552000													61	277					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144621039	144621039	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:144621039G>A	ENST00000262577.5	-	2	529	c.498C>T	c.(496-498)ccC>ccT	p.P166P		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	166					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GTCCCCGAGGGGGCTCACCTT	0.632000													7	32					0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105446671	105446671	+	Silent	SNP	T	T	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:105446671T>G	ENST00000258494.9	-	11	1466	c.1326A>C	c.(1324-1326)ccA>ccC	p.P442P	ALDH1L2_ENST00000424857.2_Silent_p.P442P	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	442	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						AACACTGGTATGGCATTTTTA	0.363000											OREG0022073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	40					0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4644970	4644970	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:4644970G>A	ENST00000433935.1	+	3	743	c.686G>A	c.(685-687)gGa>gAa	p.G229E	ZMYND15_ENST00000592813.1_Missense_Mutation_p.G229E|ZMYND15_ENST00000573751.2_Missense_Mutation_p.G229E|ZMYND15_ENST00000269289.6_Missense_Mutation_p.G229E	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	229							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GGAGCCCAGGGAACCGCAAGC	0.612000													23	128					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102337669	102337669	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:102337669C>T	ENST00000369138.1	+	11	2169	c.1679C>T	c.(1678-1680)tCc>tTc	p.S560F	GRIK2_ENST00000369134.4_Missense_Mutation_p.S511F|GRIK2_ENST00000413795.1_Missense_Mutation_p.S560F|GRIK2_ENST00000318991.6_Missense_Mutation_p.S560F|GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000421544.1_Missense_Mutation_p.S560F	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	560					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)	AATCCTCTCTCCCCTGATATC	0.443000													28	145					0	0	1	0	0
IGLL5	100423062	broad.mit.edu	37	22	23237604	23237604	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:23237604G>A	ENST00000532223.1	+	3	652	c.378G>A	c.(376-378)gaG>gaA	p.E126E	IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR|IGLL5_ENST00000526893.1_Silent_p.E125E			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	125	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCTCCTCTGAGGAGCTCCAAG	0.607000													16	21					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38805075	38805075	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:38805075C>T	ENST00000310803.5	-	7	935	c.758G>A	c.(757-759)gGc>gAc	p.G253D	RASGRP1_ENST00000450598.2_Missense_Mutation_p.G253D|RASGRP1_ENST00000539159.1_Missense_Mutation_p.G205D|RASGRP1_ENST00000559830.1_Missense_Mutation_p.G253D|RASGRP1_ENST00000561180.1_Missense_Mutation_p.G304D|RASGRP1_ENST00000558164.1_Missense_Mutation_p.G253D	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	253	Ras-GEF.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CTGGGAGATGCCGTTGCACAG	0.493000													3	36					0	0	1	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65721163	65721163	+	RNA	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:65721163G>A	ENST00000532620.1	+	0	1508							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						GCACCCAGAGGGAGCCGGGGC	0.736000													4	17					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334266	37334266	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:37334266A>G	ENST00000262825.5	+	14	2651	c.2434A>G	c.(2434-2436)Aca>Gca	p.T812A	CSF2RB_ENST00000403662.3_Missense_Mutation_p.T806A|CSF2RB_ENST00000536485.1_Missense_Mutation_p.T753A|CSF2RB_ENST00000406230.1_Missense_Mutation_p.T812A	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	806					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TGTGTCCCCAACATCCCCACA	0.662000													13	177					0	0	1	0	0
CDC14A	8556	broad.mit.edu	37	1	100963687	100963687	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:100963687A>G	ENST00000336454.3	+	14	1700	c.1345A>G	c.(1345-1347)Aaa>Gaa	p.K449E	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Missense_Mutation_p.K449E|CDC14A_ENST00000542213.1_Missense_Mutation_p.K391E|CDC14A_ENST00000544534.1_Missense_Mutation_p.K449E	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	449					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		GAAGACATCAAAAATGGCACT	0.408000													24	105					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175049442	175049442	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:175049442C>T	ENST00000239462.4	+	4	1041	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	310	Fibronectin type-III 1.				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)		GATCCAAGTGCCCAAGGAGCA	0.547000													18	47					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563969	176563969	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:176563969G>A	ENST00000367662.3	+	3	2393	c.1229G>A	c.(1228-1230)gGa>gAa	p.G410E	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G410E	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	410					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCCTGGGGGGAGACAGCTCT	0.577000													45	84					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1906969	1906969	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:1906969C>A	ENST00000399161.2	-	14	2662	c.1915G>T	c.(1915-1917)Gag>Tag	p.E639*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E637*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	639					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GAATATTTCTCGAGCTCCTTG	0.498000													6	36					3.59834e-05	3.65214e-05	1	1	0
DNAH17	8632	broad.mit.edu	37	17	76491047	76491047	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:76491047C>T	ENST00000389840.5	-	39	6118	c.5994G>A	c.(5992-5994)tcG>tcA	p.S1998S	DNAH17_ENST00000585328.1_Silent_p.S2007S|RP11-559N14.5_ENST00000591373.1_RNA					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACACCTGCTTCGAGAGCAGCT	0.597000													7	24					0	0	1	0	0
CCDC25	55246	broad.mit.edu	37	8	27610053	27610053	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:27610053G>A	ENST00000356537.4	-	5	313	c.220C>T	c.(220-222)Ctt>Ttt	p.L74F	CCDC25_ENST00000539095.1_Missense_Mutation_p.L6F|CCDC25_ENST00000522915.1_Missense_Mutation_p.L6F|RP11-16P20.3_ENST00000521510.1_RNA	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	74										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		GCCTTCACAAGGTGGGCACAG	0.408000													14	47					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490046	65490046	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:65490046G>A	ENST00000261883.4	-	9	2744	c.2578C>T	c.(2578-2580)Cgt>Tgt	p.R860C		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	860					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TCCGTCCGACGGTAGTTGAGC	0.532000													16	95					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70965090	70965090	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:70965090C>T	ENST00000357250.6	-	22	1665	c.1507G>A	c.(1507-1509)Gat>Aat	p.D503N	COL9A1_ENST00000320755.7_Missense_Mutation_p.D260N|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.D260N	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	503	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGTCCTTGATCACCCTGTATG	0.368000													12	85					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83356164	83356164	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:83356164C>T	ENST00000296591.5	-	9	1510	c.1092G>A	c.(1090-1092)gtG>gtA	p.V364V	EDIL3_ENST00000380138.3_Silent_p.V354V|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	364	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TCCAGGCATTCACTTTGCCTT	0.458000													16	55					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76386794	76386794	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:76386794C>T	ENST00000370014.3	+	14	2289	c.1670C>T	c.(1669-1671)cCt>cTt	p.P557L	SENP6_ENST00000370010.2_Missense_Mutation_p.P550L|SENP6_ENST00000541192.1_Missense_Mutation_p.P153L|SENP6_ENST00000447266.2_Missense_Mutation_p.P557L|SENP6_ENST00000327284.8_Missense_Mutation_p.P550L	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	557					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GGCCTTGATCCTCCGGCAAAT	0.264000													7	25					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79034357	79034357	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:79034357G>A	ENST00000446378.2	+	2	9800	c.9769G>A	c.(9769-9771)Gac>Aac	p.D3257N		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3257						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACTCAAAAGGACCAGGGCCA	0.413000													3	41					0	0	1	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896231	151896231	+	RNA	SNP	A	A	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:151896231A>G	ENST00000361201.4	-	0	499					NR_073432.1															endometrium(2)|kidney(2)|lung(1)	5						GAGTGGCTGGATAGTGTTGGC	0.517000													5	29					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178919220	178919220	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:178919220C>T	ENST00000263967.3	+	4	862	c.705C>T	c.(703-705)tcC>tcT	p.S235S		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	235	PI3K-RBD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGTTGCTATCCTCTGAACAAC	0.353000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			11	64					0	0	1	0	0
FAM189B	10712	broad.mit.edu	37	1	155220899	155220899	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:155220899G>A	ENST00000361361.2	-	8	1460	c.951C>T	c.(949-951)gcC>gcT	p.A317A	FAM189B_ENST00000350210.2_Silent_p.A221A|FAM189B_ENST00000472550.1_5'UTR|FAM189B_ENST00000368368.3_Silent_p.A299A	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	317						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						CTACAATGGAGGCCACTCGTT	0.572000											OREG0013858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	18					0	0	1	0	0
PRAMEF19	645414	broad.mit.edu	37	1	13695885	13695885	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:13695885C>T	ENST00000540591.1	-	3	1126	c.1080G>A	c.(1078-1080)ggG>ggA	p.G360G	PRAMEF19_ENST00000376101.2_Silent_p.G291G	NM_001099790.1	NP_001093260.2			PRAME family member 19											lung(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGTACCCAATCCCACAGTCCA	0.552000													68	314					0	0	1	0	0
TM9SF3	56889	broad.mit.edu	37	10	98325147	98325147	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:98325147A>G	ENST00000371142.4	-	3	551	c.335T>C	c.(334-336)tTa>tCa	p.L112S		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	112						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TTCTTTATCTAAATCAATTTC	0.303000													17	55					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21232139	21232139	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:21232139C>T	ENST00000233242.1	-	26	7728	c.7601G>A	c.(7600-7602)cGa>cAa	p.R2534Q		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2534					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGACAGGTATCGTTGAAGTTC	0.453000													17	55					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43896072	43896072	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:43896072C>T	ENST00000389420.3	-	4	749	c.750G>A	c.(748-750)agG>agA	p.R250R	ADAMTS20_ENST00000553158.1_Silent_p.R250R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	250						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GACGTTTTTTCCTGGAATGTC	0.328000													6	27					0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17690148	17690148	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:17690148C>T	ENST00000375448.4	+	16	1916	c.1890C>T	c.(1888-1890)atC>atT	p.I630I		NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	630					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)	GCACCTTCATCAACGACTTCT	0.612000													15	37					0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8732109	8732109	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:8732109C>T	ENST00000311434.9	-	11	1327	c.1088G>A	c.(1087-1089)cGa>cAa	p.R363Q	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	363					platelet activation	cytosol											CAGCCCGGCTCGCTCCATCTC	0.677000													6	25					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24254799	24254799	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:24254799C>T	ENST00000538205.1	+	7	767	c.220C>T	c.(220-222)Cat>Tat	p.H74Y	RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.H74Y|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.H153Y	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	153					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CTTCACACATCATCACCAAAG	0.428000													17	88					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10348141	10348141	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:10348141C>T	ENST00000255381.2	-	38	5652	c.5542G>A	c.(5542-5544)Gag>Aag	p.E1848K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1848					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACTCTTCTCTCATGTTTGCGA	0.423000													25	118					0	0	1	0	0
ZNRF1	84937	broad.mit.edu	37	16	75127483	75127483	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:75127483C>T	ENST00000335325.4	+	2	1080	c.438C>T	c.(436-438)ccC>ccT	p.P146P	ZNRF1_ENST00000320619.6_Silent_p.P146P|ZNRF1_ENST00000566250.1_Silent_p.P146P|ZNRF1_ENST00000564320.1_3'UTR|ZNRF1_ENST00000567962.1_Silent_p.P146P	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	146						cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding			breast(1)	1						TCAAGTGCCCCATTTGCTCCA	0.478000													23	78					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96051719	96051719	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:96051719C>T	ENST00000297954.4	+	20	4794	c.4794C>T	c.(4792-4794)taC>taT	p.Y1598Y	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.Y1173Y|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Silent_p.Y1210Y|WNK2_ENST00000395477.2_Silent_p.Y1561Y			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1598					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CTCTGCTCTACCAGGAGCACG	0.677000													6	31					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982392	57982392	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:57982392T>C	ENST00000309433.6	+	1	176	c.176T>C	c.(175-177)aTt>aCt	p.I59T		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GGGCTCATCATTGTGGCTATC	0.458000													6	160					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90417139	90417139	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:90417139G>A	ENST00000369393.3	-	52	8070	c.7955C>T	c.(7954-7956)tCt>tTt	p.S2652F	MDN1_ENST00000428876.1_Missense_Mutation_p.S2652F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2652					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)		GCTACCAACAGAAACCAAATT	0.348000													7	48					0	0	1	0	0
KRTAP12-3	386683	broad.mit.edu	37	21	46078010	46078010	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr21:46078010G>A	ENST00000397907.1	+	1	162	c.114G>A	c.(112-114)gtG>gtA	p.V38V	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	38	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCATGCCCGTGAGCTGCACGC	0.642000													42	165					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29974613	29974613	+	RNA	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:29974613C>T	ENST00000376797.3	-	0	1346				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							ACCGCCGTTTCCTGGCCGGGC	0.697000													10	23					0	0	1	0	0
LYVE1	10894	broad.mit.edu	37	11	10585542	10585542	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:10585542C>T	ENST00000256178.3	-	3	500	c.342G>A	c.(340-342)ctG>ctA	p.L114L	MRVI1-AS1_ENST00000529829.1_RNA|MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000529598.1_Intron|LYVE1_ENST00000531706.1_5'UTR	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	114	Link.				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		CCTTCCAAATCAGGACACCCA	0.488000													10	52					0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89237543	89237543	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:89237543C>T	ENST00000370521.3	+	6	1325	c.966C>T	c.(964-966)tcC>tcT	p.S322S	PKN2_ENST00000316005.7_Silent_p.S322S|PKN2_ENST00000370505.3_Silent_p.S165S|PKN2_ENST00000370513.5_Silent_p.S322S	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	322					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GTACACTATCCAAACCAGCAG	0.343000													9	41					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13862671	13862671	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:13862671G>A	ENST00000265104.4	-	29	4886	c.4782C>T	c.(4780-4782)tcC>tcT	p.S1594S	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1594	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)					TGCTCAGTAGGGATCCCAGCA	0.423000									Kartagener syndrome				10	63					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848982	73848982	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:73848982G>A	ENST00000523207.1	+	3	1980	c.1392G>A	c.(1390-1392)ctG>ctA	p.L464L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	464					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GTATGGAACTGATAGATGTGG	0.522000													23	135					0	0	1	0	0
AK4	205	broad.mit.edu	37	1	65684442	65684442	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:65684442C>T	ENST00000395334.2	+	4	629	c.271C>T	c.(271-273)Cct>Tct	p.P91S	AK4_ENST00000327299.7_Missense_Mutation_p.P91S|AK4_ENST00000546702.1_Missense_Mutation_p.P39S|AK4_ENST00000470888.2_3'UTR|AK4_ENST00000545314.1_Missense_Mutation_p.P91S	NM_001005353.2	NP_001005353.1	P27144	KAD4_HUMAN	adenylate kinase 4	91						mitochondrial matrix	adenylate kinase activity|ATP binding|GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						TTTAGGTTTTCCTAGGACATT	0.368000													10	53					0	0	1	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18603946	18603946	+	RNA	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:18603946C>T	ENST00000546162.2	+	0	1289					NR_003569.1																						CTCGGCCTGCCTGCAAACGCT	0.577000													10	44					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75107119	75107119	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:75107119C>T	ENST00000326665.5	-	5	558	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	114										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						ATGTTATTTTCAACAGACCTT	0.428000													9	52					0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41092808	41092808	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:41092808C>T	ENST00000291842.5	+	13	1343	c.1294C>T	c.(1294-1296)Cct>Tct	p.P432S	SHKBP1_ENST00000600733.1_Missense_Mutation_p.P407S|SHKBP1_ENST00000597649.1_3'UTR	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	432						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCACCGCAGCCCTGTCACCAA	0.627000													30	128					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109623477	109623477	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:109623477C>T	ENST00000338432.7	+	12	2031	c.1912C>T	c.(1912-1914)Ccc>Tcc	p.P638S	ACACB_ENST00000377854.5_Missense_Mutation_p.P638S|ACACB_ENST00000377848.3_Missense_Mutation_p.P638S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	638	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TTTTGAAACCCCCTCAAACCC	0.567000													6	44					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157771748	157771748	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:157771748G>A	ENST00000358292.3	-	5	894	c.843C>T	c.(841-843)ggC>ggT	p.G281G	FCRL1_ENST00000491942.1_Silent_p.G281G|FCRL1_ENST00000368176.3_Silent_p.G281G|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	281	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGGCCCCCAGGCCATTGTTGG	0.582000													24	67					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24324534	24324534	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:24324534G>A	ENST00000441335.2	+	6	791	c.612G>A	c.(610-612)atG>atA	p.M204I	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000175238.6_Intron|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Intron			Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	0	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TACCCCAAATGAAACACCTTT	0.333000													8	23					0	0	1	0	0
ENC1	8507	broad.mit.edu	37	5	73931199	73931199	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:73931199G>A	ENST00000302351.4	-	2	2242	c.1112C>T	c.(1111-1113)gCt>gTt	p.A371V	ENC1_ENST00000537006.1_Missense_Mutation_p.A371V|ENC1_ENST00000510316.1_Missense_Mutation_p.A298V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	371					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CATGGGGGCAGCCTTGGACCA	0.587000													14	83					0	0	1	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170158	20170158	+	RNA	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:20170158C>T	ENST00000338912.5	-	0	113																											TGCAGGAGATCCTCACTGAGG	0.582000													19	73					0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	167962533	167962533	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:167962533C>T	ENST00000367840.3	+	7	852	c.758C>T	c.(757-759)tCc>tTc	p.S253F	DCAF6_ENST00000367843.3_Missense_Mutation_p.S253F|DCAF6_ENST00000312263.6_Missense_Mutation_p.S253F|DCAF6_ENST00000432587.2_Missense_Mutation_p.S222F	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	253					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AATAATAAGTCCTGCAGAGTG	0.363000													20	30					0	0	1	0	0
DNAH14	127602	broad.mit.edu	37	1	225155184	225155184	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:225155184C>A	ENST00000430092.1	+	6	765	c.550C>A	c.(550-552)Cct>Act	p.P184T	DNAH14_ENST00000366849.1_Missense_Mutation_p.P184T|DNAH14_ENST00000366850.3_Missense_Mutation_p.P184T|DNAH14_ENST00000400952.3_Missense_Mutation_p.P184T|DNAH14_ENST00000439375.2_Missense_Mutation_p.P184T|DNAH14_ENST00000366848.1_Missense_Mutation_p.P184T	NM_001373.1	NP_001364.1	Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	311					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TCGGAAAAGTCCTAAATCCCT	0.299000													34	53					3.21399e-22	3.3369e-22	1	1	0
ABCD4	5826	broad.mit.edu	37	14	74759066	74759066	+	Missense_Mutation	SNP	G	G	A	rs147795328	byFrequency	TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr14:74759066G>A	ENST00000356924.4	-	11	1185	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	ABCD4_ENST00000298816.7_Missense_Mutation_p.R244W|ABCD4_ENST00000557554.1_Intron|AC005519.4_ENST00000554532.2_RNA	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	348						ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		AGCGTCTCCCGAAGCTGCCCA	0.562000													4	52					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27284993	27284993	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:27284993C>T	ENST00000317338.12	-	11	2702	c.2274G>A	c.(2272-2274)tgG>tgA	p.W758*	SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Nonsense_Mutation_p.W758*|SEZ6_ENST00000360295.9_Nonsense_Mutation_p.W758*|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	758	Sushi 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GGTCCTCACTCCAAGTTAGGT	0.572000													9	33					0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362907	49362907	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:49362907C>T	ENST00000263265.6	-	7	1066	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G171R|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	171	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGGCCCTCCCCGGGCTGGGGT	0.617000													12	35					0	0	1	0	0
PTK6	5753	broad.mit.edu	37	20	62168510	62168510	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:62168510G>A	ENST00000217185.2	-	1	185	c.158C>T	c.(157-159)gCg>gTg	p.A53V	PTK6_ENST00000542869.1_5'UTR	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	53	SH3.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			GGCCCCACCCGCCTCGTCCAG	0.682000													10	23					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590603	140590603	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:140590603C>T	ENST00000239450.2	+	1	2313	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F	PCDHB12_ENST00000541609.1_Silent_p.F371F	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		708					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGTTCGTGGCGGTGC	0.692000													64	236					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84634244	84634244	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:84634244C>T	ENST00000262753.4	-	2	361	c.216G>A	c.(214-216)cgG>cgA	p.R72R	POF1B_ENST00000373145.3_Silent_p.R72R	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	72							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGAGCACTTCCCGTGAGTTGA	0.517000													8	22					0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71491666	71491666	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:71491666C>T	ENST00000265382.3	+	6	579	c.274C>T	c.(274-276)Cga>Tga	p.R92*	PIP5K1B_ENST00000541509.1_Nonsense_Mutation_p.R92*	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	92	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		ATTAGCATTCCGATATTTCAG	0.373000													13	38					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39642765	39642765	+	Missense_Mutation	SNP	G	G	A	rs142512887		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:39642765G>A	ENST00000393986.2	-	8	1329	c.1117C>T	c.(1117-1119)Ccc>Tcc	p.P373S	KRT36_ENST00000328119.6_Missense_Mutation_p.P423S			O76013	KRT36_HUMAN	keratin 36	423	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GGCACCGGGGGGACAGAAGGA	0.582000													7	14					0	0	1	0	0
ZNF319	57567	broad.mit.edu	37	16	58030949	58030949	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:58030949G>A	ENST00000299237.2	-	2	1843	c.1221C>T	c.(1219-1221)ggC>ggT	p.G407G		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						ATTGGTCAAAGCCTTTCTGGC	0.637000													15	57					0	0	1	0	0
TVP23C-CDRT4	100533496	broad.mit.edu	37	17	15457129	15457129	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:15457129G>A	ENST00000522212.2	-	3	222	c.110C>T	c.(109-111)tCg>tTg	p.S37L	TVP23C_ENST00000518321.1_Missense_Mutation_p.S37L|TVP23C_ENST00000428082.2_Missense_Mutation_p.S37L|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000225576.3_Missense_Mutation_p.S37L|TVP23C_ENST00000438826.3_Missense_Mutation_p.S37L|TVP23C_ENST00000584811.1_5'UTR	NM_001204478.1	NP_001191407.1																					GTGGAAAAACGATGCTACTGG	0.368000													33	155					0	0	1	0	0
RCBTB2	1102	broad.mit.edu	37	13	49096073	49096073	+	Translation_Start_Site	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr13:49096073C>T	ENST00000344532.3	-	4	426	c.3G>A	c.(1-3)atG>atA	p.M1I	RCBTB2_ENST00000544492.1_Intron|RCBTB2_ENST00000481144.1_Intron|RCBTB2_ENST00000544904.1_Intron|RCBTB2_ENST00000430805.2_Intron	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	1							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GTTCTTCTTCCATATGGACTC	0.418000													21	113					0	0	1	0	0
TTLL11	158135	broad.mit.edu	37	9	124855614	124855614	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:124855614G>A	ENST00000321582.5	-	1	271	c.84C>T	c.(82-84)tcC>tcT	p.S28S	TTLL11_ENST00000373776.3_Silent_p.S28S	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	28					protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						GTCCGGGAAGGGACAATCGCC	0.687000													5	16					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12131168	12131168	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:12131168A>G	ENST00000263035.4	+	5	963	c.901A>G	c.(901-903)Act>Gct	p.T301A	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	301					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CGTGGGCAAAACTCGCGGCAG	0.607000													29	85					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133653565	133653565	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:133653565G>A	ENST00000310926.4	-	14	2197	c.1924C>T	c.(1924-1926)Ctc>Ttc	p.L642F	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.L566F	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	642					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GGTCAGATGAGGCCTGCCGCC	0.552000													15	49					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151231040	151231040	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:151231040C>T	ENST00000274576.4	-	7	1115	c.823G>A	c.(823-825)Gat>Aat	p.D275N	GLRA1_ENST00000545569.1_Missense_Mutation_p.D192N|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Missense_Mutation_p.D275N	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	275					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGTGCAGCATCCATGTTGATC	0.547000													13	92					0	0	1	0	0
HRH3	11255	broad.mit.edu	37	20	60791495	60791495	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:60791495G>A	ENST00000340177.5	-	3	1189	c.905C>T	c.(904-906)tCa>tTa	p.S302L	HRH3_ENST00000317393.6_Missense_Mutation_p.S302L	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	302					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	GGAGGTGGGTGAAGCCACGGA	0.731000													2	2					0	0	1	0	0
SIAH3	283514	broad.mit.edu	37	13	46357800	46357800	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr13:46357800C>T	ENST00000400405.2	-	2	634	c.528G>A	c.(526-528)agG>agA	p.R176R		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	176					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						GCCCTTCATGCCTCTCCTGTT	0.592000													5	30					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553183	106553183	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:106553183C>T	ENST00000369096.4	+	5	1382	c.1148C>T	c.(1147-1149)aCg>aTg	p.T383M	PRDM1_ENST00000369089.3_Missense_Mutation_p.T249M|PRDM1_ENST00000369091.2_Missense_Mutation_p.T347M	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	383					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T347M(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TCCTACGGCACGGAAGGTTTG	0.637000			"""D, N, Mis, F, S"""		DLBCL								9	101					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17110274	17110274	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:17110274C>T	ENST00000377833.4	-	21	2862	c.2797G>A	c.(2797-2799)Gga>Aga	p.G933R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	933	CUB 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGAATTTCTCCACATGCTGTT	0.373000													10	45					0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58919841	58919841	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:58919841T>A	ENST00000528737.1	+	5	3518	c.700T>A	c.(700-702)Ttt>Att	p.F234I	FAM111A_ENST00000533703.1_Missense_Mutation_p.F234I|FAM111A_ENST00000361723.3_Missense_Mutation_p.F234I|FAM111A_ENST00000420244.1_Missense_Mutation_p.F234I|FAM111A_ENST00000531147.1_Missense_Mutation_p.F234I			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	234					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				ATTTCTTTCCTTTCTGGAGAA	0.413000													22	106					0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17426838	17426838	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:17426838G>A	ENST00000229922.2	+	3	671	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	CAP2_ENST00000465994.1_Missense_Mutation_p.E47K|CAP2_ENST00000378990.2_Missense_Mutation_p.E47K|CAP2_ENST00000493172.1_Missense_Mutation_p.E47K|CAP2_ENST00000489374.1_Missense_Mutation_p.E47K	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	47					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ACCCTCCGTGGAAGCCTTTGA	0.532000													10	91					0	0	1	0	0
FUT11	170384	broad.mit.edu	37	10	75532995	75532995	+	Silent	SNP	G	G	A	rs145993159	byFrequency	TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:75532995G>A	ENST00000372841.3	+	2	799	c.756G>A	c.(754-756)gcG>gcA	p.A252A	FUT11_ENST00000394790.1_Silent_p.A252A|FUT11_ENST00000465695.1_3'UTR	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	252					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					TGCCTACCGCGCGGCTACAGG	0.592000													21	61					0	0	1	0	0
RAB4A	5867	broad.mit.edu	37	1	229433229	229433229	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:229433229C>T	ENST00000366690.4	+	5	499	c.290_splice	c.e5-1	p.S97_splice	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	92							GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				TATTACGCAGCCGAGAAACCT	0.393000													31	68					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100239242	100239242	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:100239242C>T	ENST00000305046.8	-	3	287	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	ADH1B_ENST00000394887.3_Missense_Mutation_p.V34M|ADH1B_ENST00000504498.1_5'UTR			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	74					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.V74M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	ACACTCTCCACGATGCCGGCT	0.542000													39	166					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233152679	233152679	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:233152679C>T	ENST00000258229.8	-	27	5061	c.4827G>A	c.(4825-4827)cgG>cgA	p.R1609R	PCNXL2_ENST00000344698.2_Silent_p.R261R	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1609						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)				CTTGTCTTTTCCGTGCACAGT	0.418000													26	32					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47047317	47047317	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:47047317C>T	ENST00000450053.3	+	42	6960	c.6781C>T	c.(6781-6783)Cag>Tag	p.Q2261*	NBEAL2_ENST00000383740.2_Nonsense_Mutation_p.Q540*|NBEAL2_ENST00000292309.5_Nonsense_Mutation_p.Q2077*	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2261	BEACH.						binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGACTTCATCCAGCAGCACCG	0.612000													9	87					0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29481420	29481420	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:29481420A>T	ENST00000373795.4	-	4	600	c.366T>A	c.(364-366)gaT>gaA	p.D122E	SRSF4_ENST00000546138.1_Intron|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	122	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						GACGCATATAATCCTGAAGAA	0.348000													13	56					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90874336	90874336	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:90874336G>A	ENST00000394980.1	+	9	3773	c.3454G>A	c.(3454-3456)Gag>Aag	p.E1152K	MMRN1_ENST00000394981.1_Missense_Mutation_p.E455K|MMRN1_ENST00000508372.1_Missense_Mutation_p.E894K|MMRN1_ENST00000264790.2_Missense_Mutation_p.E1152K			Q13201	MMRN1_HUMAN	multimerin 1	1152	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTACACCATCGAGTCATTTAG	0.338000													5	62					0	0	1	0	0
GDAP1	54332	broad.mit.edu	37	8	75262744	75262744	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:75262744G>A	ENST00000220822.7	+	1	128	c.48G>A	c.(46-48)gcG>gcA	p.A16A	GDAP1_ENST00000521096.1_Intron|GDAP1_ENST00000434412.2_Intron	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	16				AE -> GK (in Ref. 1; CAA76892).		cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CCTTGAGGGCGGAAGGCAAGG	0.642000													13	52					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8621152	8621152	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:8621152G>A	ENST00000429646.2	+	9	3384	c.591G>A	c.(589-591)aaG>aaA	p.K197K	CPZ_ENST00000315782.6_Silent_p.K578K|CPZ_ENST00000360986.4_Silent_p.K589K|CPZ_ENST00000382480.2_Silent_p.K452K			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	589					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGGACCCAAGAACTTTATTC	0.632000													6	58					0	0	1	0	0
SPDYA	245711	broad.mit.edu	37	2	29072743	29072743	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:29072743G>A	ENST00000334056.5	+	8	1067	c.878G>A	c.(877-879)gGa>gAa	p.G293E	TRMT61B_ENST00000306108.5_3'UTR|SPDYA_ENST00000379579.4_Missense_Mutation_p.G293E	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN	speedy/RINGO cell cycle regulator family member A	293					G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TCAAATAAAGGAAAGAAAACT	0.289000													6	26					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21343446	21343446	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr18:21343446C>T	ENST00000313654.9	+	8	1382	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*	LAMA3_ENST00000399516.3_Nonsense_Mutation_p.Q381*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	381	Domain V.|Laminin EGF-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTGAATACCCAGGGCATCTA	0.463000													5	84					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26862089	26862089	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:26862089C>T	ENST00000226247.2	+	7	1529	c.1500C>T	c.(1498-1500)agC>agT	p.S500S	FOXN1_ENST00000579795.1_Silent_p.S500S	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	500					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCCCACCCAGCCACAGTGCCA	0.667000													6	44					0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15132236	15132236	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:15132236A>G	ENST00000292574.3	+	4	1028	c.946A>G	c.(946-948)Aag>Gag	p.K316E		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	316					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AGAAATGGCAAAGAACGAGGT	0.602000													8	53					0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51514565	51514565	+	Silent	SNP	G	G	A	rs140346969		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:51514565G>A	ENST00000396402.1	-	5	762	c.609C>T	c.(607-609)ttC>ttT	p.F203F	CYP19A1_ENST00000559878.1_Silent_p.F203F|CYP19A1_ENST00000557858.1_Silent_p.F203F|CYP19A1_ENST00000260433.2_Silent_p.F203F|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Silent_p.F203F|CYP19A1_ENST00000405913.3_Silent_p.F203F	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	203					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GGATCCTCAAGAAGAGCGTGT	0.493000													12	46					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012932	189012932	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:189012932C>G	ENST00000512729.1	-	7	1133	c.759G>C	c.(757-759)agG>agC	p.R253S	TRIML2_ENST00000326754.3_Missense_Mutation_p.R278S	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	253	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CCCAGTAGTGCCTCCCTGAGG	0.592000													21	204					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124132390	124132390	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:124132390C>T	ENST00000360013.3	+	14	2541	c.2414C>T	c.(2413-2415)aCc>aTc	p.T805I	KALRN_ENST00000240874.3_Missense_Mutation_p.T805I|KALRN_ENST00000460856.1_Missense_Mutation_p.T805I	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	805					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAGGACCTAACCCTGGCAGAA	0.537000													10	37					0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1732637	1732637	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:1732637A>C	ENST00000313288.4	+	5	1515	c.1409A>C	c.(1408-1410)gAg>gCg	p.E470A		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	470						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GCCTCAGCGGAGGACACGCCT	0.647000													7	51					0	0	1	0	0
DEFB116	245930	broad.mit.edu	37	20	29891064	29891064	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:29891064G>T	ENST00000400549.1	-	2	259	c.260C>A	c.(259-261)tCt>tAt	p.S87Y		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	87					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GTTGGAGTTAGAGTCGTAATC	0.378000													33	189					2.61193e-14	2.68613e-14	1	1	0
ARHGAP24	83478	broad.mit.edu	37	4	86921785	86921785	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:86921785G>A	ENST00000395184.1	+	10	2623	c.2157G>A	c.(2155-2157)caG>caA	p.Q719Q	ARHGAP24_ENST00000264343.4_Silent_p.Q626Q|ARHGAP24_ENST00000395183.2_Silent_p.Q624Q	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	719					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		ACATGCTACAGAAAGAAATGG	0.423000													8	28					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141730243	141730243	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:141730243G>A	ENST00000475668.2	+	11	1357	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	MGAM_ENST00000549489.2_Missense_Mutation_p.E435K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	435	Maltase.				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)	AGGCTTCCCTGAATTTGTCAA	0.383000													6	18					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60689763	60689763	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:60689763G>A	ENST00000582809.1	+	23	2346	c.1643G>A	c.(1642-1644)cGa>cAa	p.R548Q	TLK2_ENST00000326270.9_Missense_Mutation_p.R719Q|TLK2_ENST00000343388.7_Missense_Mutation_p.R665Q|TLK2_ENST00000542523.1_Missense_Mutation_p.R665Q|TLK2_ENST00000346027.5_Missense_Mutation_p.R697Q			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	719	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GCGTTTATTCGACGATGCTTG	0.542000													24	54					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142280122	142280122	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:142280122G>A	ENST00000350721.4	-	5	1433	c.1312C>T	c.(1312-1314)Cta>Tta	p.L438L	ATR_ENST00000383101.3_Silent_p.L438L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	438					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GAAGGGTTTAGAGACGAGCTG	0.373000								Other conserved DNA damage response genes					17	113					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52901372	52901372	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:52901372T>G	ENST00000261844.7	-	6	1891	c.1739A>C	c.(1738-1740)cAt>cCt	p.H580P	FAM214A_ENST00000546305.2_Missense_Mutation_p.H587P	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	580																	TCTTGTTTGATGTTTCAAAGA	0.313000													4	53					0	0	1	0	0
ANKRD1	27063	broad.mit.edu	37	10	92679962	92679962	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:92679962C>T	ENST00000371697.3	-	2	419	c.171G>A	c.(169-171)gaG>gaA	p.E57E		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	57					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TCCACTGTTGCTCCCCCAGGG	0.507000													34	96					0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78775756	78775756	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:78775756C>T	ENST00000258886.8	+	11	1542	c.1393C>T	c.(1393-1395)Cag>Tag	p.Q465*		NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	465							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AAGCGATTTCCAGGCTTGCTT	0.383000													10	60					0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97976469	97976469	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:97976469C>T	ENST00000224337.5	-	7	688	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	BLNK_ENST00000413476.2_Missense_Mutation_p.E183K|BLNK_ENST00000427367.2_Missense_Mutation_p.E183K|BLNK_ENST00000371176.2_Missense_Mutation_p.E183K	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	183	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TCATTATCTTCCACGGGGACC	0.378000													12	31					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370194	86370194	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr13:86370194C>T	ENST00000400286.2	-	2	1048	c.450G>A	c.(448-450)gtG>gtA	p.V150V		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	150						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)		TTGGTTCAATCACTGTGATAA	0.353000													19	77					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33650359	33650359	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:33650359C>T	ENST00000374316.5	+	35	5595	c.4535C>T	c.(4534-4536)cCg>cTg	p.P1512L	ITPR3_ENST00000605930.1_Missense_Mutation_p.P1512L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1512					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTCGAGTGTCCGTGGCTACAG	0.657000													27	77					0	0	1	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764617	109764617	+	RNA	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:109764617G>A	ENST00000602699.1	+	0	1078					NR_002718.2																						CTGAATGGGGGAACCTGCATG	0.577000													22	105					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542680	14542680	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr18:14542680C>T	ENST00000358970.5	-	1	465	c.466G>A	c.(466-468)Gat>Aat	p.D156N	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	156								p.D156Y(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ACGATGAGATCCTTTCTGGGG	0.582000													29	239					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6156556	6156556	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:6156556C>T	ENST00000588304.1	+	5	797	c.351C>T	c.(349-351)atC>atT	p.I117I	ACSBG2_ENST00000252669.5_Silent_p.I167I|ACSBG2_ENST00000586696.1_Silent_p.I167I|ACSBG2_ENST00000591403.1_Silent_p.I167I|ACSBG2_ENST00000588485.1_Intron			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	167					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TACAGAAAATCCTTTCGGTAA	0.463000													18	76					0	0	1	0	0
LANCL3	347404	broad.mit.edu	37	X	37514986	37514986	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:37514986G>A	ENST00000378621.3	+	2	921	c.619G>A	c.(619-621)Gac>Aac	p.D207N	LANCL3_ENST00000378619.3_Missense_Mutation_p.D207N|TM4SF2_ENST00000465127.1_Intron	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	207							catalytic activity			lung(4)|pancreas(1)	5						GGCAATTCTGGACTCTGGGAA	0.433000													9	25					0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121556316	121556316	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:121556316T>G	ENST00000361976.2	+	7	925	c.759T>G	c.(757-759)gaT>gaG	p.D253E	INPP5F_ENST00000369083.3_Missense_Mutation_p.D253E	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	253	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AATCATCTGATGATGAGAAAA	0.453000													16	50					0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48603041	48603041	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:48603041G>T	ENST00000354276.3	-	5	661	c.334C>A	c.(334-336)Cag>Aag	p.Q112K	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.Q122K|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.Q112K|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.Q112K	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	112	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCCCACTCCTGTCGGGTAAAT	0.493000													21	162					2.39556e-15	2.47299e-15	1	1	0
SCAND3	114821	broad.mit.edu	37	6	28540967	28540967	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:28540967G>A	ENST00000452236.2	-	4	3316	c.2699C>T	c.(2698-2700)tCa>tTa	p.S900L		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	900					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						aagttgcaatgaaaaatactt	0.333000													7	38					0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798374	148798374	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:148798374G>A	ENST00000355220.5	+	5	1330	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	MAGEA11_ENST00000333104.4_Missense_Mutation_p.D381N	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	410	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CAATGGGAGGGATCCCACTTC	0.542000													26	113					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53303294	53303294	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:53303294T>C	ENST00000438150.2	-	2	2538	c.1645A>G	c.(1645-1647)Act>Gct	p.T549A	ZNF28_ENST00000457749.2_Missense_Mutation_p.T602A|ZNF28_ENST00000360272.4_Missense_Mutation_p.T549A|ZNF28_ENST00000414252.2_Missense_Mutation_p.T549A			P17035	ZNF28_HUMAN	zinc finger protein 28	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTCTCTCCAGTATGAACTCTC	0.443000													28	143					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71576658	71576658	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:71576658C>T	ENST00000409544.1	+	2	1204	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	ZNF638_ENST00000355812.3_Nonsense_Mutation_p.Q192*|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Nonsense_Mutation_p.Q192*|ZNF638_ENST00000264447.4_Nonsense_Mutation_p.Q192*	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	192					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TTTACCTTCTCAGAGCAGAAA	0.388000													18	42					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49764692	49764692	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:49764692G>A	ENST00000561648.1	-	3	320	c.267C>T	c.(265-267)cgC>cgT	p.R89R	ZNF423_ENST00000562520.1_Silent_p.R29R|ZNF423_ENST00000262383.2_Silent_p.R89R|ZNF423_ENST00000563137.2_Silent_p.R29R|ZNF423_ENST00000562871.1_Silent_p.R29R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	89					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTCCAGGACAGCGGTGGGCCC	0.512000													16	92					0	0	1	0	0
ELAC1	55520	broad.mit.edu	37	18	48510961	48510961	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr18:48510961T>C	ENST00000591429.1	+	3	728	c.653T>C	c.(652-654)tTc>tCc	p.F218S	ELAC1_ENST00000588577.1_Intron|RP11-729L2.2_ENST00000588256.1_Intron|RP11-729L2.2_ENST00000590722.2_Intron|ELAC1_ENST00000269466.3_Intron|SMAD4_ENST00000452201.2_Intron			Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	0					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		TTTTGTTTTTTCCCGCCTTCT	0.428000													3	12					0	0	1	0	0
RBPMS2	348093	broad.mit.edu	37	15	65041230	65041230	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:65041230G>A	ENST00000300069.4	-	5	654	c.387C>T	c.(385-387)gcC>gcT	p.A129A	RBPMS2_ENST00000560606.1_Silent_p.A18A	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	129							nucleic acid binding|nucleotide binding			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						GTGCTCCTAGGGCGGGGTGCA	0.562000													18	72					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823568	38823568	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:38823568G>A	ENST00000303592.3	-	2	828	c.570C>T	c.(568-570)caC>caT	p.H190H		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	190					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					AAATGACCGCGTGGTGGCTGA	0.642000													47	51					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175854	55175854	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:55175854G>A	ENST00000391736.1	+	6	888	c.573G>A	c.(571-573)ggG>ggA	p.G191G	LILRB4_ENST00000270452.2_Silent_p.G191G|LILRB4_ENST00000391733.3_Silent_p.G191G|LILRB4_ENST00000391734.3_Silent_p.G191G|LILRB4_ENST00000430952.2_Silent_p.G191G	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	191	Ig-like C2-type 2.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGCACGGGGGGACCTACAGGT	0.612000													19	97					0	0	1	0	0
PHLPP1	23239	broad.mit.edu	37	18	60646446	60646446	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr18:60646446C>T	ENST00000400316.4	+	17	5181	c.3400C>T	c.(3400-3402)Cga>Tga	p.R1134*	PHLPP1_ENST00000262719.5_Nonsense_Mutation_p.R1646*	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1646					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CGCACCTCTTCGAAAGCCTGG	0.567000													5	18					0	0	1	0	0
PAG1	55824	broad.mit.edu	37	8	81897449	81897449	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:81897449G>A	ENST00000220597.4	-	7	1148	c.438C>T	c.(436-438)ctC>ctT	p.L146L		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	146					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TTCTCGCCGTGAGCATGGTAT	0.587000													10	56					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67062036	67062036	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:67062036C>T	ENST00000315962.4	+	5	1133	c.760C>T	c.(760-762)Cat>Tat	p.H254Y	TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Missense_Mutation_p.H254Y|TRIM55_ENST00000276573.7_Missense_Mutation_p.H254Y	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	254						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GTATTCTGATCATTTGGAGAA	0.428000													22	90					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921346	12921346	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:12921346C>T	ENST00000240189.2	+	4	1224	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	379										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCCCAGCTCACCACCTTCT	0.562000													13	222					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138604144	138604144	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:138604144G>A	ENST00000440172.1	-	2	276	c.228C>T	c.(226-228)tcC>tcT	p.S76S	KIAA1549_ENST00000242365.4_Silent_p.S26S|KIAA1549_ENST00000422774.1_Silent_p.S76S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	76						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CGAGCTCCATGGAGTATAAAG	0.502000			O	BRAF	pilocytic astrocytoma								25	61					0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887600	9887600	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr18:9887600C>T	ENST00000306084.6	+	2	1323	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	TXNDC2_ENST00000357775.4_Missense_Mutation_p.P308L|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	375	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GGTGACATTCCCAAGTCTCCA	0.562000													66	148					0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22035615	22035615	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:22035615C>T	ENST00000406385.1	+	7	383	c.323C>T	c.(322-324)aCc>aTc	p.T108I	PPIL2_ENST00000492445.2_Missense_Mutation_p.T108I|PPIL2_ENST00000456792.2_Missense_Mutation_p.T87I|PPIL2_ENST00000335025.7_Missense_Mutation_p.T108I|PPIL2_ENST00000412327.1_Missense_Mutation_p.T108I|PPIL2_ENST00000398831.3_Missense_Mutation_p.T108I			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	108					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GTGCTGTTTACCGTGTTCACC	0.607000													8	90					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891541	18891541	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:18891541G>A	ENST00000317658.3	+	1	497	c.339G>A	c.(337-339)gaG>gaA	p.E113E		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	113					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TTCAGAATGAGGCAGAATACC	0.373000													10	52					0	0	1	0	0
FABP5P3	220832	broad.mit.edu	37	7	152139854	152139854	+	RNA	SNP	A	A	C	rs1972551	by1000genomes	TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:152139854A>C	ENST00000477993.1	+	0	609					NR_002935.1																						TTTGAAGAAAACACAGCTGAT	0.418000													3	32					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55921022	55921022	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:55921022T>C	ENST00000389286.4	-	16	2851	c.2804A>G	c.(2803-2805)aAa>aGa	p.K935R		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	935					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ATACAGACCTTTGGCATCAGC	0.418000													6	51					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24373008	24373008	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:24373008C>T	ENST00000005284.3	+	4	1974	c.772C>T	c.(772-774)Cct>Tct	p.P258S		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	258					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CCACACCATCCCTTCCACTGA	0.592000													7	108					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39642766	39642766	+	Silent	SNP	G	G	A	rs149830161		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:39642766G>A	ENST00000393986.2	-	8	1328	c.1116C>T	c.(1114-1116)gtC>gtT	p.V372V	KRT36_ENST00000328119.6_Silent_p.V422V			O76013	KRT36_HUMAN	keratin 36	422	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GCACCGGGGGGACAGAAGGAA	0.582000													7	14					0	0	1	0	0
CDK4	1019	broad.mit.edu	37	12	58145431	58145431	+	Missense_Mutation	SNP	G	G	A	rs11547328		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:58145431G>A	ENST00000257904.6	-	2	435	c.70C>T	c.(70-72)Cgt>Tgt	p.R24C	CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000540325.1_5'UTR|CDK4_ENST00000312990.6_Missense_Mutation_p.R24C|CDK4_ENST00000549606.1_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	24	Protein kinase.		R -> C (in CMM3; somatic and familial; generates a dominant oncogene resistant to inhibition by p16(INK4a); dbSNP:rs11547328).|R -> H (in CMM3).		cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TGGGGATCACGGGCCTTGTAC	0.557000			Mis			melanoma			Hereditary Melanoma				16	69					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49152779	49152779	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:49152779G>C	ENST00000453664.1	-	13	2186	c.1868C>G	c.(1867-1869)gCt>gGt	p.A623G	USP19_ENST00000417901.1_Missense_Mutation_p.A635G|USP19_ENST00000398888.2_Missense_Mutation_p.A532G|USP19_ENST00000398892.3_Missense_Mutation_p.A572G|USP19_ENST00000398896.1_Missense_Mutation_p.A340G|USP19_ENST00000398898.2_Missense_Mutation_p.A572G|USP19_ENST00000434032.2_Missense_Mutation_p.A633G	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	532					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTTGATCTCAGCCTCAAAGGA	0.587000													13	70					0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149589031	149589031	+	Silent	SNP	G	G	A	rs150439561		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:149589031G>A	ENST00000230671.2	+	14	2135	c.1764G>A	c.(1762-1764)acG>acA	p.T588T	SLC6A7_ENST00000524041.1_Silent_p.T588T	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	588						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	AGAACCGGACGGGCATGTATG	0.617000													4	55					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112622378	112622378	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:112622378G>A	ENST00000550722.1	-	61	10349	c.9954C>T	c.(9952-9954)ccC>ccT	p.P3318P	HECTD4_ENST00000430131.2_Silent_p.P3042P|HECTD4_ENST00000377560.5_Silent_p.P3292P	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TGTCTGTGCCGGGGAAGGCCA	0.632000													9	48					0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962520	10962520	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:10962520G>A	ENST00000240691.2	-	1	247	c.155C>T	c.(154-156)gCc>gTc	p.A52V		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	52					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCTGGAGATGGCCAAGCTGAT	0.408000													19	86					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44064457	44064457	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:44064457G>A	ENST00000359947.4	+	13	2526	c.2186G>A	c.(2185-2187)tGg>tAg	p.W729*	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Nonsense_Mutation_p.W729*|PTPRF_ENST00000422171.2_Nonsense_Mutation_p.W86*|PTPRF_ENST00000438120.1_Nonsense_Mutation_p.W729*|PTPRF_ENST00000372413.3_Nonsense_Mutation_p.W729*	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	729	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATGTCTACTGGAAGCTGCCT	0.642000													26	89					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16162102	16162102	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:16162102C>T	ENST00000399408.2	+	13	1942	c.1767C>T	c.(1765-1767)ttC>ttT	p.F589F	ABCC1_ENST00000349029.5_Silent_p.F589F|ABCC1_ENST00000351154.5_Silent_p.F589F|ABCC1_ENST00000346370.5_Silent_p.F589F|ABCC1_ENST00000399410.3_Silent_p.F589F|ABCC1_ENST00000345148.5_Silent_p.F589F			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	589	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGGCCTTGTTCAACATCCTCC	0.572000													30	154					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47887450	47887450	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:47887450G>A	ENST00000396105.1	-	3	1145	c.899C>T	c.(898-900)aCt>aTt	p.T300I	ZNFX1_ENST00000371754.4_Missense_Mutation_p.T300I|ZNFX1_ENST00000371752.1_Missense_Mutation_p.T300I	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	300							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCAATGATAGTCTGTACCTT	0.493000													35	139					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94546147	94546147	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:94546147C>T	ENST00000370225.3	-	8	1072	c.986G>A	c.(985-987)gGa>gAa	p.G329E	ABCA4_ENST00000535735.1_Missense_Mutation_p.G329E	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	329					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGAGCCACCTCCCTCGGGGTA	0.517000													25	101					0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155143429	155143429	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:155143429C>T	ENST00000367178.3	+	16	2388	c.1812C>T	c.(1810-1812)agC>agT	p.S604S	SCAF8_ENST00000417268.1_Silent_p.S604S|SCAF8_ENST00000367186.4_Silent_p.S670S	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	604					mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CTGTGAAAAGCTCAGAACCTG	0.413000													14	49					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96783568	96783568	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr14:96783568C>T	ENST00000359933.4	-	20	4017	c.3124G>A	c.(3124-3126)Gac>Aac	p.D1042N		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1042										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTCTGAGAGTCTAATTTTTTT	0.368000													12	50					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31571176	31571176	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:31571176C>T	ENST00000379416.3	-	28	3153	c.3105G>A	c.(3103-3105)ggG>ggA	p.G1035G		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1035					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TCTCAGTCCCCCCGTGGGTCA	0.507000													6	50					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53986399	53986399	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:53986399G>A	ENST00000514921.1	+	2	331	c.219_splice	c.e2+1	p.R73_splice	MLIP_ENST00000370877.2_Intron|MLIP_ENST00000274897.5_Splice_Site_p.R73_splice|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000502396.1_Splice_Site_p.R84_splice|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000358276.5_Splice_Site_p.R67_splice			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	73						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						ACTGTAAATAGGGTAGGatta	0.299000													14	40					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382423	41382423	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:41382423G>A	ENST00000377801.3	-	2	391	c.317C>T	c.(316-318)cCc>cTc	p.P106L	PLCXD3_ENST00000328457.3_Missense_Mutation_p.P106L			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	106	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTCATTGTCGGGGTCTCTGGG	0.443000													12	62					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78803511	78803511	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:78803511G>T	ENST00000545128.1	+	18	2838	c.2300G>T	c.(2299-2301)tGc>tTc	p.C767F	PCSK5_ENST00000376752.4_Missense_Mutation_p.C767F	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	767	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGATCCCGGTGCTCTGTCTCC	0.517000													13	69					1.05317e-09	1.07697e-09	1	1	0
KCNQ1	3784	broad.mit.edu	37	11	2604736	2604736	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:2604736C>T	ENST00000155840.5	+	7	1101	c.993C>T	c.(991-993)tgC>tgT	p.C331C	KCNQ1_ENST00000335475.5_Silent_p.C204C	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	331					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TCGCCTCCTGCTTCTCTGTCT	0.632000													28	106					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50857295	50857295	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:50857295G>A	ENST00000359139.3	+	7	1012		c.e7-1		PPP6R2_ENST00000216061.5_Splice_Site|PPP6R2_ENST00000395744.3_Splice_Site|PPP6R2_ENST00000395741.3_Splice_Site	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2							cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TGTCTTTTCAGAGGCAGTCAA	0.567000													12	154					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520547	33520547	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:33520547C>T	ENST00000297307.5	-	1	865	c.780G>A	c.(778-780)ggG>ggA	p.G260G		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	260						integral to membrane											AGGCGAGGATCCCCACTGCCC	0.642000													24	111					0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55421412	55421412	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:55421412C>T	ENST00000594765.1	+	5	694	c.669C>T	c.(667-669)gaC>gaT	p.D223D	NCR1_ENST00000357397.5_Silent_p.D116D|NCR1_ENST00000447255.1_Silent_p.D223D|NCR1_ENST00000598576.1_Silent_p.D211D|NCR1_ENST00000338835.5_Silent_p.D223D|NCR1_ENST00000350790.5_Silent_p.D128D|NCR1_ENST00000291890.4_Silent_p.D223D			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	223					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CACCTGAAGACCCCACCTTTC	0.448000													30	168					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54652444	54652444	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:54652444C>T	ENST00000406403.1	+	11	2975	c.1372C>T	c.(1372-1374)Cct>Tct	p.P458S	CNOT3_ENST00000221232.5_Missense_Mutation_p.P458S|CNOT3_ENST00000358389.3_Missense_Mutation_p.P277S			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	458	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTTGGGCCCCCCTTCCGGCCC	0.637000													3	19					0	0	1	0	0
STK24	8428	broad.mit.edu	37	13	99114081	99114081	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr13:99114081G>A	ENST00000397517.2	-	8	1076	c.1000C>T	c.(1000-1002)Ccc>Tcc	p.P334S	STK24_ENST00000376547.3_Missense_Mutation_p.P346S|STK24_ENST00000539966.1_Missense_Mutation_p.P315S	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	346					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGATTCTTGGGATCTTTTTCT	0.507000													9	89					0	0	1	0	0
INCA1	388324	broad.mit.edu	37	17	4897699	4897699	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:4897699G>A	ENST00000396829.2	-	4	600	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	INCA1_ENST00000576820.1_Missense_Mutation_p.P12S|INCA1_ENST00000575780.1_Missense_Mutation_p.P12S|INCA1_ENST00000355025.3_Missense_Mutation_p.P12S|INCA1_ENST00000574617.1_Missense_Mutation_p.P12S	NM_001167986.1	NP_001161458.1	Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein 1	12						nucleus				upper_aerodigestive_tract(1)	1						TTGGCAAAGGGGATGAGGTTG	0.522000													7	45					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160755341	160755341	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:160755341C>T	ENST00000263636.4	-	2	351	c.324G>A	c.(322-324)tgG>tgA	p.W108*	LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.W108*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.W108*|LY75_ENST00000554112.1_Nonsense_Mutation_p.W108*|LY75_ENST00000553424.1_Nonsense_Mutation_p.W108*	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)		GCTCACATTTCCACCACAGCA	0.502000													9	50					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46781686	46781686	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:46781686G>A	ENST00000394809.4	-	1	535	c.420C>T	c.(418-420)ttC>ttT	p.F140F	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	140					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CCTGCATGAGGAAATCCGCCA	0.657000													13	59					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130284164	130284164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:130284164C>T	ENST00000358511.6	+	3	1019	c.988C>T	c.(988-990)Cag>Tag	p.Q330*	COL6A6_ENST00000453409.2_Nonsense_Mutation_p.Q330*	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	330	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCGGAAGAATCAGGGGGTGCC	0.532000													31	171					0	0	1	0	0
MROH1	727957	broad.mit.edu	37	8	145278100	145278100	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:145278100C>T	ENST00000528919.1	+	13	1426	c.1305C>T	c.(1303-1305)atC>atT	p.I435I	MROH1_ENST00000398656.4_Silent_p.I435I|MROH1_ENST00000534366.1_Silent_p.I435I|MROH1_ENST00000326134.5_Silent_p.I435I	NM_032450.2	NP_115826.2			maestro heat-like repeat family member 1																		TCGAGTACATCGTGCAGCAGT	0.662000													3	13					0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63170480	63170480	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:63170480G>A	ENST00000399298.3	-	6	1075	c.707C>T	c.(706-708)tCt>tTt	p.S236F	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	236						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					CTCTGTCACAGACACAGGGCA	0.483000													11	35					0	0	1	0	0
CDK7	1022	broad.mit.edu	37	5	68568762	68568762	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:68568762C>T	ENST00000502604.1	+	9	969	c.479C>T	c.(478-480)cCt>cTt	p.P160L	CDK7_ENST00000514676.1_Missense_Mutation_p.P216L|CDK7_ENST00000513629.1_3'UTR|CDK7_ENST00000256443.3_Missense_Mutation_p.P253L			P50613	CDK7_HUMAN	cyclin-dependent kinase 7	253	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		AAGAGTTTCCCTGGAATACCT	0.358000								Nucleotide excision repair (NER)					5	44					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60885110	60885110	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:60885110C>T	ENST00000252999.3	-	78	10828	c.10762G>A	c.(10762-10764)Ggg>Agg	p.G3588R		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3588	Laminin G-like 5.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGAACTCCCCTGCTCCGTCA	0.682000													7	51					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221002	55221002	+	RNA	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:55221002C>T	ENST00000413439.1	+	0	991																											GTCCCTTGTCCCTGGCCCTGT	0.557000													3	4					0	0	1	0	0
KRTAP12-1	353332	broad.mit.edu	37	21	46101954	46101954	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr21:46101954C>T	ENST00000391617.1	-	1	124	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	TSPEAR_ENST00000323084.4_Intron	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN	keratin associated protein 12-1	29	14 X 5 AA approximate repeats.					keratin filament				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						GACTGGCAGCCCACGGGGATG	0.687000													19	84					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14823308	14823308	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:14823308C>T	ENST00000380881.4	-	14	3005	c.2190G>A	c.(2188-2190)atG>atA	p.M730I	FREM1_ENST00000380880.3_Missense_Mutation_p.M729I|FREM1_ENST00000422223.2_Missense_Mutation_p.M729I			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	729					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.M729I(1)|p.M730I(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGGCCACTTTCATATAGTTCA	0.453000													35	119					0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57485446	57485446	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:57485446T>C	ENST00000300131.3	+	2	1000	c.622T>C	c.(622-624)Ttc>Ctc	p.F208L	NAB2_ENST00000342556.6_Missense_Mutation_p.F208L|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	208					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.F208L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCGCCCCCCTTCTCCCCCCC	0.716000													6	26					0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100179449	100179449	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:100179449G>A	ENST00000310300.6	-	4	601	c.549C>T	c.(547-549)tcC>tcT	p.S183S	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	183					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTCCCGCAGGGAAGAGAGGC	0.587000													9	40					0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160851026	160851026	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:160851026C>T	ENST00000326245.3	-	5	597	c.482G>A	c.(481-483)tGg>tAg	p.W161*	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	161	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTGTTTCTCCAGTGCTGCAT	0.572000													43	70					0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52942401	52942401	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:52942401C>T	ENST00000332323.6	+	4	1788	c.1727C>T	c.(1726-1728)tCa>tTa	p.S576L	ZNF534_ENST00000433050.1_Missense_Mutation_p.S563L|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						AGTCGGAATTCACACCTTGCG	0.458000													5	13					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68113761	68113761	+	Silent	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:68113761C>T	ENST00000262215.3	-	37	5597	c.5208G>A	c.(5206-5208)cgG>cgA	p.R1736R	ARFGEF1_ENST00000518230.1_Silent_p.R574R|ARFGEF1_ENST00000520381.1_Silent_p.R1190R|ARFGEF1_ENST00000517955.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1736					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CCATGTACATCCGGAAGAGAA	0.522000													8	73					0	0	1	0	0
ADSSL1	122622	broad.mit.edu	37	14	105212583	105212583	+	Translation_Start_Site	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr14:105212583G>A	ENST00000556623.1	+	0	153				ADSSL1_ENST00000330877.2_Silent_p.E394E|ADSSL1_ENST00000554657.1_3'UTR|ADSSL1_ENST00000332972.5_Silent_p.E437E|ADSSL1_ENST00000555674.1_De_novo_Start_InFrame			Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1						AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	CTAACCAGGAGATGCTTCAGA	0.602000													20	65					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120195223	120195223	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:120195223G>A	ENST00000392521.2	-	22	2713	c.2658C>T	c.(2656-2658)gaC>gaT	p.D886D	CIT_ENST00000261833.7_Silent_p.D844D|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	844					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGTCACTGTGGTCTTGGTGGC	0.547000													59	275					0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566278	5566278	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:5566278C>T	ENST00000322653.4	-	1	501	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R159Q(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGAAGCTTCGAAAGGAGAT	0.463000													14	45					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151845398	151845398	+	Silent	SNP	G	G	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:151845398G>A	ENST00000355193.2	-	53	14003	c.13785C>T	c.(13783-13785)atC>atT	p.I4595I	KMT2C_ENST00000262189.6_Silent_p.I4538I					lysine (K)-specific methyltransferase 2C																		CTCGTTGCACGATGCTAGCAA	0.488000													15	62					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24373009	24373009	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:24373009C>T	ENST00000005284.3	+	4	1975	c.773C>T	c.(772-774)cCt>cTt	p.P258L		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	258					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CACACCATCCCTTCCACTGAC	0.592000													7	111					0	0	1	0	0
LINC00471	151477	broad.mit.edu	37	2	232373610	232373610	+	RNA	DEL	A	A	-	rs34321159		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:232373610delA	ENST00000313064.2	-	0	808					NR_024079.1																						tctgtctcagaaaaaaaaaaa	0.468													2	4	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													8	199	---	---	---	---					
CDC42BPB	9578	broad.mit.edu	37	14	103442332	103442332	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr14:103442332delG	ENST00000361246.2	-	10	1563	c.1275delC	c.(1273-1275)acfs	p.T425fs		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	425					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCTCATCTTTGGTTAATGTGT	0.488													25	101	---	---	---	---					
ABCA5	23461	broad.mit.edu	37	17	67250604	67250606	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:67250604_67250606delTCT	ENST00000392676.3	-	32	4158_4160	c.4094_4096delAGA	c.(4093-4098)gca>g	p.ET1365del	ABCA5_ENST00000588877.1_In_Frame_Del_p.ET1365del|ABCA5_ENST00000392677.2_In_Frame_Del_p.ET1366del			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1365	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TCTTCACTTGTCTCTGAAGAATA	0.330													7	54	---	---	---	---					
RNMT	8731	broad.mit.edu	37	18	13742527	13742528	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr18:13742527_13742528insTA	ENST00000383314.2	+	8	1255_1256	c.1015_1016insTA	c.(1015-1017)aatfs	p.N339fs	RNMT_ENST00000535051.1_Frame_Shift_Ins_p.N97fs|RNMT_ENST00000262173.3_Frame_Shift_Ins_p.N339fs|RNMT_ENST00000543302.2_Frame_Shift_Ins_p.N339fs|RNMT_ENST00000592764.1_Frame_Shift_Ins_p.N339fs|RNMT_ENST00000589866.1_Frame_Shift_Ins_p.N339fs			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	339					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						ATTTGGAAATGAAATATATACT	0.337													29	68	---	---	---	---					
FANCB	2187	broad.mit.edu	37	X	14882681	14882689	+	Splice_Site	DEL	CCTGAAAGC	CCTGAAAGC	-			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:14882681_14882689delCCTGAAAGC	ENST00000398334.1	-	3	1211_1219	c.951_splice	c.e3+1	p.SFQV315_splice	FANCB_ENST00000324138.3_Splice_Site_p.SFQV315_splice	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	315					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					AAGTGTTGTACCTGAAAGCTCTCTTTCCA	0.364								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	42	---	---	---	---