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
BNC2	54796	broad.mit.edu	37	9	16419530	16419530	+	Silent	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr9:16419530C>T	ENST00000380672.4	-	7	2814	c.2757G>A	c.(2755-2757)aaG>aaA	p.K919K	BNC2_ENST00000545497.1_Silent_p.K824K|BNC2_ENST00000380667.2_Silent_p.K852K	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	919					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CACCATATATCTTCACCAAAA	0.562000													13	67					0	0	0.002450	0	0
TBCE	6905	broad.mit.edu	37	1	235602230	235602230	+	Silent	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:235602230C>G	ENST00000543662.1	+	14	1522	c.1416C>G	c.(1414-1416)ctC>ctG	p.L472L	TBCE_ENST00000366601.3_Silent_p.L421L|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Silent_p.L421L			Q15813	TBCE_HUMAN	tubulin folding cofactor E	421					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			ACCAGTTCCTCTGCCTGAGTA	0.473000													15	70					0	0	0.004007	0	0
C1orf110	339512	broad.mit.edu	37	1	162824590	162824590	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:162824590C>T	ENST00000367910.1	-	4	994	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367912.2_Intron|C1orf110_ENST00000367911.2_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	292										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						ACCCTGTTTTCACACTCCTTT	0.468000													21	72					0	0	0.002780	0	0
NCOA7	135112	broad.mit.edu	37	6	126249876	126249876	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr6:126249876G>A	ENST00000368357.3	+	17	3140	c.2788G>A	c.(2788-2790)Gac>Aac	p.D930N	NCOA7_ENST00000229634.9_Missense_Mutation_p.D815N|NCOA7_ENST00000392477.2_Missense_Mutation_p.D930N	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	930	TLD.				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CAAAAAGGAAGACTTCATAGT	0.393000													32	53					0	0	0.012213	0	0
UBE3C	9690	broad.mit.edu	37	7	156961752	156961752	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr7:156961752G>A	ENST00000348165.5	+	3	491	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	UBE3C_ENST00000389103.4_Intron	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	44	Cis-determinant of acceptor ubiquitin- binding.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GAAGAAAGGCGAAGGTTGAAA	0.353000													6	84					0	0	0.001984	0	0
ZNF614	80110	broad.mit.edu	37	19	52520410	52520410	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:52520410C>A	ENST00000270649.6	-	5	985	c.441G>T	c.(439-441)aaG>aaT	p.K147N	ZNF614_ENST00000356322.6_Missense_Mutation_p.K147N	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CATGTCTTCTCTTCTGGTTGA	0.328000													4	41					0.00024832	0.000753498	0.009096	1	0
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	741	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627000													3	44					0	0	0.009096	0	0
TOP3B	8940	broad.mit.edu	37	22	22313516	22313516	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr22:22313516C>T	ENST00000398793.2	-	16	2327	c.1893G>A	c.(1891-1893)atG>atA	p.M631I	TOP3B_ENST00000357179.5_Missense_Mutation_p.M631I	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	631					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GGATGTACTTCATGAAGCGGT	0.572000													30	28					0	0	0.003271	0	0
PSG2	5670	broad.mit.edu	37	19	43570726	43570726	+	Missense_Mutation	SNP	G	G	A	rs1058470		TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:43570726G>A	ENST00000406487.1	-	5	1089	c.991C>T	c.(991-993)Ctc>Ttc	p.L331F		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	331					cell migration|female pregnancy	extracellular region		p.L331V(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGATTAAGGAGAGGAAGAAGT	0.423000													16	76					0	0	0.006122	0	0
MBOAT7	79143	broad.mit.edu	37	19	54677887	54677887	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:54677887G>A	ENST00000245615.1	-	8	1750	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W	MBOAT7_ENST00000431666.2_Missense_Mutation_p.R351W|MBOAT7_ENST00000338624.6_Missense_Mutation_p.R351W	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	424					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCAGTACCGAAGGGTGTCG	0.647000													14	72					0	0	0.001855	0	0
MAT2A	4144	broad.mit.edu	37	2	85768265	85768265	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr2:85768265G>C	ENST00000306434.3	+	2	274	c.151G>C	c.(151-153)Gat>Cat	p.D51H	MAT2A_ENST00000409017.1_5'UTR	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	51					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GCAGGATCCTGATGCCAAAGT	0.378000													13	68					0	0	0.004007	0	0
DOCK5	80005	broad.mit.edu	37	8	25167972	25167972	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr8:25167972G>C	ENST00000276440.7	+	13	1286	c.1242G>C	c.(1240-1242)caG>caC	p.Q414H		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	414						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCCAGGTTCAGAAGAATTTTT	0.418000													4	59					0	0	0.000602	0	0
KDM5B	10765	broad.mit.edu	37	1	202701006	202701006	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:202701006G>A	ENST00000367265.3	-	24	5135	c.3971C>T	c.(3970-3972)tCa>tTa	p.S1324L	KDM5B_ENST00000367264.2_Missense_Mutation_p.S1360L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1324					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.S1324L(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GTGCAAATATGAGGTTCTGTT	0.418000													5	68					0	0	0.001168	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96992465	96992465	+	Silent	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr2:96992465G>A	ENST00000361124.4	+	1	531	c.120G>A	c.(118-120)cgG>cgA	p.R40R	ITPRIPL1_ENST00000542887.1_Silent_p.R24R|ITPRIPL1_ENST00000536814.1_Silent_p.R24R|ITPRIPL1_ENST00000439118.2_Silent_p.R32R	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	32						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCAGTGATCGGATGGACCTGG	0.537000													8	70					0	0	0.004482	0	0
MYLK	4638	broad.mit.edu	37	3	123426701	123426701	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr3:123426701C>G	ENST00000360772.3	-	17	2668	c.2290G>C	c.(2290-2292)Gac>Cac	p.D764H	MYLK_ENST00000475616.1_Missense_Mutation_p.D764H|MYLK_ENST00000359169.1_Missense_Mutation_p.D764H|MYLK_ENST00000360304.3_Missense_Mutation_p.D764H|MYLK_ENST00000346322.5_Missense_Mutation_p.D695H			Q15746	MYLK_HUMAN	myosin light chain kinase	764	Ig-like C2-type 6.				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)		TGGCCAGTGTCTTTGCAGAGG	0.577000													6	59					0	0	0.001984	0	0
TLR9	54106	broad.mit.edu	37	3	52256149	52256149	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr3:52256149C>T	ENST00000597542.1	-	9	3212	c.2255G>A	c.(2254-2256)cGa>cAa	p.R752Q	TLR9_ENST00000360658.2_Missense_Mutation_p.R728Q|TLR9_ENST00000494383.1_Silent_p.A881A			Q9NR96	TLR9_HUMAN	toll-like receptor 9	728					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GTTGAGCTCTCGCAGCTCCTT	0.622000													8	76					0	0	0.003080	0	0
S100A8	6279	broad.mit.edu	37	1	153362596	153362596	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:153362596C>G	ENST00000368733.3	-	3	434	c.265G>C	c.(265-267)Gaa>Caa	p.E89Q	S100A8_ENST00000368732.1_Missense_Mutation_p.E89Q	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	89				VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390).	chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTGTGGCTTTCTTCATGGCTT	0.473000													4	164					0	0	0.009096	0	0
REPS2	9185	broad.mit.edu	37	X	17095461	17095461	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:17095461C>G	ENST00000357277.3	+	13	1618	c.1447C>G	c.(1447-1449)Cgg>Ggg	p.R483G	REPS2_ENST00000469714.1_Intron|REPS2_ENST00000380064.4_Intron|REPS2_ENST00000303843.7_Missense_Mutation_p.R482G	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	483	Pro-rich.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CCCGCCACCTCGGCCACAGAA	0.557000													22	173					0	0	0.012319	0	0
CACNG7	59284	broad.mit.edu	37	19	54445351	54445351	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:54445351G>A	ENST00000391767.1	+	6	844	c.632G>A	c.(631-633)cGt>cAt	p.R211H	CACNG7_ENST00000222212.2_Missense_Mutation_p.R211H			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	211				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GAGATGTACCGTCCACACCCG	0.711000													11	25					0	0	0.008291	0	0
FBL	2091	broad.mit.edu	37	19	40331085	40331085	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:40331085C>G	ENST00000221801.3	-	3	365	c.252G>C	c.(250-252)aaG>aaC	p.K84N		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	84					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CCATCACATTCTTCCCCGACT	0.602000													4	230					0	0	0.000602	0	0
KDM5A	5927	broad.mit.edu	37	12	498114	498114	+	Missense_Mutation	SNP	G	G	C	rs117902138	by1000genomes	TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr12:498114G>C	ENST00000399788.2	-	1	506	c.144C>G	c.(142-144)atC>atG	p.I48M	KDM5A_ENST00000382815.4_Missense_Mutation_p.I48M	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	48	JmjN.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GAATTTTGCAGATGCCGGTTT	0.562000			T	NUP98	AML								9	49					0	0	0.006214	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960010	33960010	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:33960010C>T	ENST00000361328.3	+	8	2219	c.2066C>T	c.(2065-2067)tCt>tTt	p.S689F		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	689					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CAAGAAAGTTCTTCTGAAGAG	0.463000													22	58					0	0	0.012319	0	0
ACTR3B	57180	broad.mit.edu	37	7	152549271	152549271	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr7:152549271G>A	ENST00000256001.8	+	10	1146	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	ACTR3B_ENST00000397282.2_Missense_Mutation_p.D250N|ACTR3B_ENST00000377776.3_Intron|ACTR3B_ENST00000537264.1_Missense_Mutation_p.D250N	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	338					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		ACTGCAGAGGGATTTGAAGAG	0.597000													40	82					0	0	0.010771	0	0
LAMB2	3913	broad.mit.edu	37	3	49158946	49158946	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr3:49158946G>T	ENST00000418109.1	-	32	5344	c.5180C>A	c.(5179-5181)gCa>gAa	p.A1727E	LAMB2_ENST00000305544.4_Missense_Mutation_p.A1727E	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1727	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTTGCCTGTGCAGCCAGCAC	0.607000													5	112					1.024e-07	3.17081e-07	0.000602	1	0
ZNF160	90338	broad.mit.edu	37	19	53572166	53572166	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:53572166C>G	ENST00000601421.1	-	3	2389	c.1513G>C	c.(1513-1515)Gaa>Caa	p.E505Q	ZNF160_ENST00000599056.1_Missense_Mutation_p.E541Q|ZNF160_ENST00000418871.1_Missense_Mutation_p.E541Q|ZNF160_ENST00000429604.1_Missense_Mutation_p.E541Q			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	541					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTGCCACATTCAATACATTTG	0.408000													7	95					0	0	0.001984	0	0
RB1CC1	9821	broad.mit.edu	37	8	53555298	53555298	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr8:53555298C>G	ENST00000025008.5	-	17	4585	c.4062G>C	c.(4060-4062)ttG>ttC	p.L1354F	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.L1354F|RB1CC1_ENST00000539297.1_Missense_Mutation_p.L1354F	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1354					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TTGTACTTTTCAACTTATCAC	0.269000													3	38					0	0	0.004672	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420598	55420598	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr12:55420598G>C	ENST00000242994.3	+	2	753	c.375G>C	c.(373-375)aaG>aaC	p.K125N		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	125	Helix-loop-helix motif.				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.K125K(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AACTTTCCAAGATAGAGACTC	0.498000													9	48					0	0	0.008291	0	0
BCS1L	617	broad.mit.edu	37	2	219528005	219528005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr2:219528005C>T	ENST00000431802.1	+	8	1855	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*	BCS1L_ENST00000392109.1_Nonsense_Mutation_p.R386*|BCS1L_ENST00000392110.2_Nonsense_Mutation_p.R386*|BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000439945.1_Nonsense_Mutation_p.R386*|BCS1L_ENST00000412366.1_Nonsense_Mutation_p.R386*|BCS1L_ENST00000392111.2_Nonsense_Mutation_p.R386*|BCS1L_ENST00000359273.3_Nonsense_Mutation_p.R386*			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	386					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACATGTCCTTCGAGCTACAAA	0.522000													4	53					0	0	0.000602	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47364623	47364623	+	RNA	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:47364623C>G	ENST00000505841.1	-	0	213					NR_002788.2																						TCCATCAGCTCAGGATACACC	0.443000													9	84					0	0	0.006214	0	0
KIAA1429	25962	broad.mit.edu	37	8	95518765	95518765	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr8:95518765G>C	ENST00000297591.5	-	16	4135	c.4060C>G	c.(4060-4062)Ctt>Gtt	p.L1354V	KIAA1429_ENST00000437199.1_Missense_Mutation_p.L1354V	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1354					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)			TGCTCTGCAAGAAACATCATT	0.343000													4	76					0	0	0.009096	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													4	63					0	0	0.000602	0	0
BSN	8927	broad.mit.edu	37	3	49691394	49691394	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr3:49691394G>A	ENST00000296452.4	+	5	4519	c.4405G>A	c.(4405-4407)Gca>Aca	p.A1469T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1469					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCCTTCCCGGGCATATTCCTA	0.632000													4	128					0	0	0.009096	0	0
SH2B1	25970	broad.mit.edu	37	16	28884863	28884863	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr16:28884863G>A	ENST00000322610.8	+	11	2432	c.1993G>A	c.(1993-1995)Gaa>Aaa	p.E665K	SH2B1_ENST00000395532.4_3'UTR|SH2B1_ENST00000563674.1_3'UTR|SH2B1_ENST00000545570.1_3'UTR|SH2B1_ENST00000538342.1_3'UTR|SH2B1_ENST00000359285.5_3'UTR|SH2B1_ENST00000337120.5_3'UTR			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	665					blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GAGGGCGCCAGAAGTGGCGGC	0.657000													4	8					0	0	0.009096	0	0
ABCG5	64240	broad.mit.edu	37	2	44040381	44040381	+	Silent	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr2:44040381C>T	ENST00000543989.1	-	9	2350	c.645G>A	c.(643-645)gaG>gaA	p.E215E	ABCG5_ENST00000260645.1_Silent_p.E610E|ABCG5_ENST00000405322.1_Silent_p.E439E			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	610	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGCAGGTTTTCTCAATGAATT	0.383000													5	20					0	0	0.000602	0	0
SYTL5	94122	broad.mit.edu	37	X	37965932	37965932	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:37965932C>G	ENST00000357972.5	+	11	1788	c.1242C>G	c.(1240-1242)atC>atG	p.I414M	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.I414M|SYTL5_ENST00000456733.2_Missense_Mutation_p.I436M			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	414	C2 1.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TTCTCCATATCAGCTACTGCT	0.438000													4	88					0	0	0.009096	0	0
RASSF3	283349	broad.mit.edu	37	12	65082182	65082182	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr12:65082182G>A	ENST00000542104.1	+	3	526	c.406G>A	c.(406-408)Gag>Aag	p.E136K	RASSF3_ENST00000336061.2_Missense_Mutation_p.E136K	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	136	Ras-associating.				signal transduction	cytoplasm|microtubule	identical protein binding	p.E136K(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		TCTCGTGACTGAGAGCCCTGC	0.478000													6	50					0	0	0.001984	0	0
DPF2	5977	broad.mit.edu	37	11	65116365	65116365	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr11:65116365G>A	ENST00000528416.1	+	10	1195	c.1062G>A	c.(1060-1062)atG>atA	p.M354I	DPF2_ENST00000252268.4_Missense_Mutation_p.M368I|DPF2_ENST00000415073.2_Missense_Mutation_p.M170I	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	354					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						GCTACCACATGTACTGTCTCA	0.478000													34	25					0	0	0.004878	0	0
RYR2	6262	broad.mit.edu	37	1	237993844	237993844	+	Silent	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:237993844C>T	ENST00000366574.2	+	103	14987	c.14670C>T	c.(14668-14670)atC>atT	p.I4890I	RYR2_ENST00000360064.6_Silent_p.I4896I|RYR2_ENST00000542537.1_Silent_p.I4874I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4890					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATGCTTCATCTGTGGGATAG	0.428000													23	102					0	0	0.002780	0	0
USP48	84196	broad.mit.edu	37	1	22050463	22050463	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:22050463T>C	ENST00000308271.9	-	12	2224	c.1576A>G	c.(1576-1578)Att>Gtt	p.I526V	USP48_ENST00000374732.3_Missense_Mutation_p.I65V|USP48_ENST00000529637.1_Missense_Mutation_p.I525V|USP48_ENST00000400301.1_Missense_Mutation_p.I526V	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	526	DUSP 1.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.I526V(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CTCTTCATAATTGATATTTTA	0.393000													17	64					0	0	0.008871	0	0
TM7SF3	51768	broad.mit.edu	37	12	27148270	27148270	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr12:27148270T>A	ENST00000343028.4	-	5	815	c.590A>T	c.(589-591)tAt>tTt	p.Y197F	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	197						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					AAAATACTGATAGACATCATA	0.507000													15	20					0	0	0.002450	0	0
HCN1	348980	broad.mit.edu	37	5	45262400	45262400	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr5:45262400C>T	ENST00000303230.4	-	8	2353	c.2296G>A	c.(2296-2298)Gaa>Aaa	p.E766K		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	766						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						TTGTGCACTTCATTTTTCGGC	0.657000													16	101					0	0	0.004007	0	0
TFRC	7037	broad.mit.edu	37	3	195782029	195782029	+	Silent	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr3:195782029C>T	ENST00000360110.4	-	17	1990	c.1821G>A	c.(1819-1821)ttG>ttA	p.L607L	TFRC_ENST00000392396.3_Silent_p.L607L|TFRC_ENST00000420415.1_Silent_p.L526L|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Silent_p.L325L	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	607	Ligand-binding.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		AGTCCAGGTTCAATTCAACAT	0.453000			T	BCL6	NHL								46	188					0	0	0.014410	0	0
NSUN2	54888	broad.mit.edu	37	5	6607347	6607347	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr5:6607347C>G	ENST00000264670.6	-	13	1785	c.1474G>C	c.(1474-1476)Gag>Cag	p.E492Q	NSUN2_ENST00000539938.1_Missense_Mutation_p.E256Q|NSUN2_ENST00000506139.1_Missense_Mutation_p.E457Q	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	492						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CCATTATTCTCTAAATCCTCA	0.433000													15	466					0	0	0.004007	0	0
SLC7A3	84889	broad.mit.edu	37	X	70145681	70145681	+	Silent	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:70145681G>C	ENST00000374299.3	-	12	1986	c.1842C>G	c.(1840-1842)ctC>ctG	p.L614L	SLC7A3_ENST00000298085.4_Silent_p.L614L			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	614					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGTGGACATAGAGAGTGCCGG	0.517000													24	28					0	0	0.003954	0	0
TP53	7157	broad.mit.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr17:7576855G>A	ENST00000420246.2	-	9	1123	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTTAGTACCTGAAGGGTGAAA	0.448000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	28					0	0	0.007413	0	0
SUPT16H	11198	broad.mit.edu	37	14	21828577	21828577	+	Silent	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr14:21828577G>C	ENST00000216297.2	-	18	2510	c.2172C>G	c.(2170-2172)ctC>ctG	p.L724L		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	724					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GGTATACCTTGAGGTGAAAGT	0.408000													6	70					0	0	0.001984	0	0
POLA2	23649	broad.mit.edu	37	11	65063506	65063506	+	Silent	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr11:65063506C>G	ENST00000541089.1	+	16	1898	c.1068C>G	c.(1066-1068)gtC>gtG	p.V356V	POLA2_ENST00000265465.3_Intron|POLA2_ENST00000534785.1_Intron			Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	0					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	AGAACCCAGTCTTTGACTTTC	0.552000													21	76					0	0	0.010504	0	0
HAS2	3037	broad.mit.edu	37	8	122641338	122641338	+	Silent	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr8:122641338C>T	ENST00000303924.4	-	2	780	c.243G>A	c.(241-243)ttG>ttA	p.L81L		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	81						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGTTTTGTTCAACTTTATGG	0.423000													13	324					0	0	0.013537	0	0
COL3A1	1281	broad.mit.edu	37	2	189868984	189868984	+	Splice_Site	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr2:189868984G>A	ENST00000304636.3	+	40	2995	c.2825G>A	c.(2824-2826)gGa>gAa	p.G942E	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	942	Triple-helical region.		G -> E (in EDS4).		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGTATTAGGGAGCTCCAGGC	0.458000													5	5					0	0	0.001168	0	0
GPR143	4935	broad.mit.edu	37	X	9707573	9707573	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:9707573G>C	ENST00000467482.1	-	8	1218	c.1072C>G	c.(1072-1074)Caa>Gaa	p.Q358E	GPR143_ENST00000487206.1_5'UTR|GPR143_ENST00000380929.2_Missense_Mutation_p.Q378E			P51810	GP143_HUMAN	G protein-coupled receptor 143	358					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CCACCCACTTGAGACACCTTC	0.602000													3	28					0	0	0.004672	0	0
C9orf84	158401	broad.mit.edu	37	9	114490065	114490065	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr9:114490065G>A	ENST00000394779.3	-	9	1617	c.1373C>T	c.(1372-1374)tCa>tTa	p.S458L	C9orf84_ENST00000394777.4_Missense_Mutation_p.S458L|C9orf84_ENST00000374287.3_Missense_Mutation_p.S497L|C9orf84_ENST00000318737.4_Missense_Mutation_p.S497L	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	497										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGAGGAAGGTGATTTAATAGA	0.328000													32	75					0	0	0.010818	0	0
KIAA0319	9856	broad.mit.edu	37	6	24601308	24601308	+	Silent	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr6:24601308G>A	ENST00000378214.3	-	2	548	c.24C>T	c.(22-24)ctC>ctT	p.L8L	KIAA0319_ENST00000537886.1_Silent_p.L8L|KIAA0319_ENST00000543707.1_Silent_p.L8L|KIAA0319_ENST00000535378.1_5'UTR|KIAA0319_ENST00000430948.2_Intron	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	8					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.L8L(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GCAATGAAGAGAGCACACCTG	0.527000													13	132					0	0	0.002450	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													4	71					0	0	0.009096	0	0
SMARCA1	6594	broad.mit.edu	37	X	128602794	128602794	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:128602794C>G	ENST00000371122.4	-	21	2783	c.2654G>C	c.(2653-2655)cGa>cCa	p.R885P	SMARCA1_ENST00000371121.3_Missense_Mutation_p.R873P|SMARCA1_ENST00000371123.1_Missense_Mutation_p.R873P	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	885	SANT 1.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CTCTACCTCTCGAGCTATGTT	0.348000													4	96					0	0	0.009096	0	0
HDC	3067	broad.mit.edu	37	15	50546416	50546416	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr15:50546416G>C	ENST00000267845.3	-	6	1033	c.631C>G	c.(631-633)Ctg>Gtg	p.L211V	HDC_ENST00000543581.1_Missense_Mutation_p.L211V	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	211					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TCCACAGGCAGAAATTTCATC	0.512000													4	51					0	0	0.000602	0	0
TP53BP1	7158	broad.mit.edu	37	15	43784203	43784203	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr15:43784203C>A	ENST00000263801.3	-	3	520	c.268G>T	c.(268-270)Gca>Tca	p.A90S	TP53BP1_ENST00000450115.2_Missense_Mutation_p.A95S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.A95S|TP53BP1_ENST00000382044.4_Missense_Mutation_p.A95S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	90					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ACCTCACCTGCAACCTTGTTT	0.413000								Other conserved DNA damage response genes					17	43					7.45023e-12	2.34815e-11	0.010504	1	0
PPP3CC	5533	broad.mit.edu	37	8	22332639	22332639	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr8:22332639G>C	ENST00000240139.5	+	2	549	c.222G>C	c.(220-222)atG>atC	p.M74I	PPP3CC_ENST00000289963.8_Missense_Mutation_p.M74I|PPP3CC_ENST00000397775.3_Missense_Mutation_p.M74I|PPP3CC_ENST00000518852.1_Missense_Mutation_p.M74I	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	74					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		AGAAGACTATGATAGAAGTAG	0.353000													6	49					0	0	0.001168	0	0
ZNF749	388567	broad.mit.edu	37	19	57955273	57955273	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:57955273G>A	ENST00000334181.4	+	3	1007	c.757G>A	c.(757-759)Gag>Aag	p.E253K	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AAGGCCTTATGAGGGCACTGA	0.413000													8	51					0	0	0.004482	0	0
PTPRS	5802	broad.mit.edu	37	19	5211637	5211637	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:5211637G>C	ENST00000372412.4	-	33	5434	c.5201C>G	c.(5200-5202)tCt>tGt	p.S1734C	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Missense_Mutation_p.S1695C|PTPRS_ENST00000353284.2_Missense_Mutation_p.S1286C|PTPRS_ENST00000357368.4_Missense_Mutation_p.S1733C|PTPRS_ENST00000588012.1_Missense_Mutation_p.S1695C|PTPRS_ENST00000262963.6_Missense_Mutation_p.S1713C|PTPRS_ENST00000587303.1_Missense_Mutation_p.S1733C|PTPRS_ENST00000592099.1_Missense_Mutation_p.S1286C			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1733	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GATGTAGTCAGAGCCCTCCAC	0.562000													15	18					0	0	0.004007	0	0
CACNB1	782	broad.mit.edu	37	17	37341039	37341039	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr17:37341039C>T	ENST00000394303.3	-	8	934	c.727G>A	c.(727-729)Gag>Aag	p.E243K	CACNB1_ENST00000344140.5_Missense_Mutation_p.E288K|CACNB1_ENST00000394310.3_Missense_Mutation_p.E243K	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	243					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	AGTCCTACCTCGTAGCCCTTG	0.612000													4	55					0	0	0.000602	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911860	100911860	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:100911860G>A	ENST00000328766.5	-	5	1168	c.715C>T	c.(715-717)Cct>Tct	p.P239S	ARMCX2_ENST00000330154.2_Missense_Mutation_p.P239S|ARMCX2_ENST00000356824.4_Missense_Mutation_p.P239S	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	239	Ala-rich.					integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GAAGTTCCAGGAGACTCTGCA	0.622000													4	69					0	0	0.009096	0	0
KLHL2	11275	broad.mit.edu	37	4	166235316	166235316	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr4:166235316C>A	ENST00000226725.6	+	13	1866	c.1607C>A	c.(1606-1608)gCa>gAa	p.A536E	KLHL2_ENST00000421009.2_Missense_Mutation_p.A439E|KLHL2_ENST00000506761.1_Missense_Mutation_p.A370E|KLHL2_ENST00000538127.1_Missense_Mutation_p.A448E|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Missense_Mutation_p.A540E	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	536					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AGAAGAAATGCAGGTATCTGT	0.353000													36	54					1.36161e-19	4.34322e-19	0.004289	1	0
CDH1	999	broad.mit.edu	37	16	68842438	68842438	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr16:68842438G>T	ENST00000261769.5	+	4	690	c.499G>T	c.(499-501)Gaa>Taa	p.E167*	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Nonsense_Mutation_p.E167*	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	167	Cadherin 1.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)|p.V157_Q177del(1)|p.E165_P170del(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CCCAGAAAATGAAAAAGGCCC	0.468000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				10	23					3.86212e-05	0.000118208	0.008291	1	0
SPEF2	79925	broad.mit.edu	37	5	35691248	35691248	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr5:35691248C>T	ENST00000440995.2	+	11	1634	c.1634C>T	c.(1633-1635)cCt>cTt	p.P545L	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.P545L|SPEF2_ENST00000509059.1_Missense_Mutation_p.P545L			Q9C093	SPEF2_HUMAN	sperm flagellar 2	545					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAATCTCTTCCTCCTCGAGCG	0.418000													14	194					0	0	0.004990	0	0
DMTF1	9988	broad.mit.edu	37	7	86824033	86824033	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr7:86824033G>T	ENST00000414194.2	+	17	3056	c.1264G>T	c.(1264-1266)Gat>Tat	p.D422Y	DMTF1_ENST00000413276.2_Missense_Mutation_p.D618Y|DMTF1_ENST00000432937.2_Missense_Mutation_p.D600Y|DMTF1_ENST00000331242.7_Missense_Mutation_p.D688Y|DMTF1_ENST00000394703.5_Missense_Mutation_p.D688Y			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	688	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					AGAACAAGTTGATCAAACAAT	0.328000													5	65					0.00116845	0.00350534	0.001168	1	0
AHNAK	79026	broad.mit.edu	37	11	62289685	62289685	+	Silent	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr11:62289685G>A	ENST00000378024.4	-	5	12478	c.12204C>T	c.(12202-12204)ttC>ttT	p.F4068F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4068					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGGCATGCTGAATTTGGGCA	0.498000													36	235					0	0	0.004289	0	0
CSMD2	114784	broad.mit.edu	37	1	34166245	34166245	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:34166245C>T	ENST00000373381.4	-	23	3781	c.3605G>A	c.(3604-3606)cGt>cAt	p.R1202H	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.R75H	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1162	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCCAGCAAACGGGCGGAGTT	0.498000													22	38					0	0	0.002780	0	0
DAK	26007	broad.mit.edu	37	11	61111327	61111327	+	Splice_Site	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr11:61111327G>A	ENST00000394900.3	+	12	1211		c.e12-1			NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)						glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGCCCTTAGATGCTGAAAC	0.627000													23	109					0	0	0.012319	0	0
PAK3	5063	broad.mit.edu	37	X	110406927	110406927	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:110406927G>A	ENST00000372007.5	+	10	1129	c.738G>A	c.(736-738)atG>atA	p.M246I	PAK3_ENST00000372010.1_Missense_Mutation_p.M261I|PAK3_ENST00000519681.1_Missense_Mutation_p.M267I|PAK3_ENST00000262836.4_Missense_Mutation_p.M261I|PAK3_ENST00000446737.1_Missense_Mutation_p.M246I|PAK3_ENST00000360648.4_Missense_Mutation_p.M282I|PAK3_ENST00000425146.1_Missense_Mutation_p.M246I|PAK3_ENST00000518291.1_Missense_Mutation_p.M282I|PAK3_ENST00000417227.1_Missense_Mutation_p.M267I	NM_002578.3	NP_002569.1	O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3		Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	p.M246I(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AATCCAAGATGACAGATGAGG	0.403000										TSP Lung(19;0.15)			24	85					0	0	0.003954	0	0
OR4D9	390199	broad.mit.edu	37	11	59283291	59283291	+	Silent	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr11:59283291G>A	ENST00000329328.3	+	1	906	c.906G>A	c.(904-906)aaG>aaA	p.K302K		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						GGAAACTGAAGAGACGGCTAG	0.383000													10	53					0	0	0.006214	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													3	37					0	0	0.009096	0	0
GPN1	11321	broad.mit.edu	37	2	27852011	27852011	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr2:27852011G>A	ENST00000264718.3	+	1	149	c.128G>A	c.(127-129)gGa>gAa	p.G43E	GPN1_ENST00000458167.2_Intron|GPN1_ENST00000515877.1_Intron|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000503738.1_Intron|GPN1_ENST00000610189.1_Missense_Mutation_p.G29E|GPN1_ENST00000407583.3_Intron|GPN1_ENST00000424214.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA			Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1	29						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						GGAATGGCGGGATCCGGGAAA	0.627000													10	75					0	0	0.010729	0	0
ZNF215	7762	broad.mit.edu	37	11	6953674	6953674	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr11:6953674G>C	ENST00000278319.5	+	3	759	c.171G>C	c.(169-171)ttG>ttC	p.L57F	ZNF215_ENST00000414517.2_Missense_Mutation_p.L57F|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Missense_Mutation_p.L57F	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	57	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TCCAGTATTTGAAAGTGTCTG	0.478000													28	22					0	0	0.004656	0	0
MAP3K7	6885	broad.mit.edu	37	6	91257016	91257016	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr6:91257016C>T	ENST00000369329.3	-	11	1332	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N	MAP3K7_ENST00000369320.1_Missense_Mutation_p.D72N|MAP3K7_ENST00000369332.3_Missense_Mutation_p.D391N|MAP3K7_ENST00000369325.3_Missense_Mutation_p.D391N|MAP3K7_ENST00000369327.3_Missense_Mutation_p.D391N	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	391					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCAGACATGTCAGCACTCATC	0.478000													16	128					0	0	0.006122	0	0
CTRL	1506	broad.mit.edu	37	16	67964676	67964676	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr16:67964676C>G	ENST00000574481.1	-	4	832	c.271G>C	c.(271-273)Gac>Cac	p.D91H	CTRL_ENST00000576408.1_5'UTR	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	91	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GATGATCGGTCATACTCGCCC	0.637000													7	22					0	0	0.003080	0	0
STRAP	11171	broad.mit.edu	37	12	16050868	16050868	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr12:16050868C>G	ENST00000419869.2	+	7	1004	c.691C>G	c.(691-693)Ctt>Gtt	p.L231V	STRAP_ENST00000538352.1_Missense_Mutation_p.L137V|STRAP_ENST00000025399.6_Missense_Mutation_p.L244V	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	231					mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				TTCTGCATCTCTTCATCCTGA	0.323000													4	81					0	0	0.009096	0	0
PROS1	5627	broad.mit.edu	37	3	93605256	93605256	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr3:93605256G>A	ENST00000394236.3	-	11	1563	c.1247C>T	c.(1246-1248)cCg>cTg	p.P416L	PROS1_ENST00000407433.1_Missense_Mutation_p.P285L	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	416	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TCCATTTTCCGGCTTAAAAAG	0.368000													18	191					0	0	0.010504	0	0
ADH1C	126	broad.mit.edu	37	4	100273830	100273830	+	RNA	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr4:100273830C>G	ENST00000510055.1	-	0	57				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)	CTGCTGTGCTCATATTGATTC	0.328000													21	61					0	0	0.012319	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660935	77660935	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr4:77660935G>A	ENST00000296043.6	+	5	2562	c.1609G>A	c.(1609-1611)Gac>Aac	p.D537N		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	537					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CTTAGAACATGACTTGCTGTC	0.517000													12	106					0	0	0.010729	0	0
APC2	10297	broad.mit.edu	37	19	1455193	1455193	+	Silent	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:1455193C>G	ENST00000535453.1	+	4	2172	c.459C>G	c.(457-459)ctC>ctG	p.L153L	APC2_ENST00000233607.2_Silent_p.L153L|APC2_ENST00000238483.4_Silent_p.L153L			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	153					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGAAGCTCTGGTACTACT	0.657000													3	9					0	0	0.004672	0	0
BTBD11	121551	broad.mit.edu	37	12	108012011	108012011	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr12:108012011G>C	ENST00000280758.5	+	10	2836	c.2308G>C	c.(2308-2310)Gag>Cag	p.E770Q	BTBD11_ENST00000357167.4_Missense_Mutation_p.E307Q|BTBD11_ENST00000490090.2_Missense_Mutation_p.E770Q|BTBD11_ENST00000420571.2_Intron	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	770						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GATTCTGGCCGAGGGGACTGA	0.607000													17	38					0	0	0.006122	0	0
OR9A2	135924	broad.mit.edu	37	7	142724082	142724082	+	Silent	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr7:142724082C>G	ENST00000350513.2	-	1	200	c.138G>C	c.(136-138)gtG>gtC	p.V46V		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					CACAGACAATCACAATGATGA	0.443000													4	134					0	0	0.000602	0	0
ERBB2	2064	broad.mit.edu	37	17	37881000	37881000	+	Missense_Mutation	SNP	G	G	T	rs121913471		TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr17:37881000G>T	ENST00000406381.2	+	22	2749	c.2239G>T	c.(2239-2241)Gtg>Ttg	p.V747L	ERBB2_ENST00000584601.1_Missense_Mutation_p.V747L|ERBB2_ENST00000445658.2_Missense_Mutation_p.V501L|ERBB2_ENST00000541774.1_Missense_Mutation_p.V762L|ERBB2_ENST00000540147.1_Missense_Mutation_p.V747L|ERBB2_ENST00000584450.1_Missense_Mutation_p.V777L|ERBB2_ENST00000269571.5_Missense_Mutation_p.V777L	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	777	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V777L(6)|p.V777M(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GATGGCTGGTGTGGGCTCCCC	0.577000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			26	62					4.7796e-09	1.4931e-08	0.004656	1	0
CC2D1A	54862	broad.mit.edu	37	19	14034524	14034524	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:14034524G>A	ENST00000318003.7	+	17	2081	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K	CC2D1A_ENST00000589606.1_Missense_Mutation_p.E614K	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	614					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AAAGTTGGCGGAGGACTGTAA	0.627000													12	61					0	0	0.010729	0	0
RELN	5649	broad.mit.edu	37	7	103191699	103191699	+	Silent	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr7:103191699C>G	ENST00000424685.2	-	41	6276	c.6117G>C	c.(6115-6117)gtG>gtC	p.V2039V	RELN_ENST00000343529.5_Silent_p.V2039V|RELN_ENST00000428762.1_Silent_p.V2039V			P78509	RELN_HUMAN	reelin	2039					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.V2039V(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTCCAGTCTCACTGGATCCG	0.512000													13	28					0	0	0.001855	0	0
TPT1	7178	broad.mit.edu	37	13	45914259	45914259	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr13:45914259C>T	ENST00000379056.1	-	2	231	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	TPT1_ENST00000529421.1_5'UTR|TPT1_ENST00000379060.4_Missense_Mutation_p.E43K|RP11-290D2.6_ENST00000610057.1_RNA|TPT1_ENST00000309246.5_Missense_Mutation_p.E55K|TPT1_ENST00000379055.1_Missense_Mutation_p.E21K|TPT1_ENST00000530705.1_Missense_Mutation_p.E55K			P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	55					anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		TCGGGGCCTTCAGCGGAGGCA	0.448000													7	35					0	0	0.003080	0	0
MCC	4163	broad.mit.edu	37	5	112437588	112437588	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr5:112437588C>T	ENST00000302475.4	-	6	1239	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.E416K|MCC_ENST00000515367.2_Missense_Mutation_p.E163K	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	226					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GACCTCTCTTCAGCCAGGTTG	0.547000													4	64					0	0	0.000602	0	0
PNPLA7	375775	broad.mit.edu	37	9	140374852	140374852	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr9:140374852G>A	ENST00000406427.1	-	23	2828	c.2492C>T	c.(2491-2493)aCg>aTg	p.T831M	PNPLA7_ENST00000371457.1_Missense_Mutation_p.T412M|PNPLA7_ENST00000277531.4_Missense_Mutation_p.T806M	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	806					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGGTGTGAGCGTGCCATCTAC	0.667000													12	33					0	0	0.001855	0	0
SMAD1	4086	broad.mit.edu	37	4	146475180	146475180	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr4:146475180G>C	ENST00000515385.1	+	6	1784	c.1242G>C	c.(1240-1242)atG>atC	p.M414I	SMAD1_ENST00000302085.4_Missense_Mutation_p.M414I|SMAD1_ENST00000394092.2_Missense_Mutation_p.M414I			Q15797	SMAD1_HUMAN	SMAD family member 1	414	MH2.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CTATACGTATGAGCTTTGTGA	0.353000													8	83					0	0	0.003080	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650127	75650127	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:75650127G>A	ENST00000361470.2	+	1	2082	c.1804G>A	c.(1804-1806)Gag>Aag	p.E602K		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	602	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CAAGGAGGCTGAGATTTGGGA	0.498000													10	19					0	0	0.008291	0	0
SMC1A	8243	broad.mit.edu	37	X	53432589	53432589	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:53432589C>G	ENST00000322213.4	-	11	1874	c.1747G>C	c.(1747-1749)Gag>Cag	p.E583Q	SMC1A_ENST00000375340.6_Missense_Mutation_p.E349Q	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	583	Flexible hinge.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CGGAGTTTCTCATCTGTAGGC	0.537000													8	33					0	0	0.006214	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													5	164					0	0	0.001984	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310614	57310614	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr11:57310614G>A	ENST00000457912.1	+	2	553	c.553G>A	c.(553-555)Gag>Aag	p.E185K	SMTNL1_ENST00000527972.1_Missense_Mutation_p.E167K|SMTNL1_ENST00000399154.2_Missense_Mutation_p.E167K			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	167										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GGCAACAGTTGAGGAGGAGGA	0.547000													10	6					0	0	0.013537	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	60					0	0	0.009096	0	0
KRT73	319101	broad.mit.edu	37	12	53009982	53009982	+	Silent	SNP	G	G	A	rs116369374	by1000genomes	TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr12:53009982G>A	ENST00000305748.3	-	2	664	c.630C>T	c.(628-630)agC>agT	p.S210S		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	210	Coil 1B.|Rod.					keratin filament	structural molecule activity	p.S210R(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTTCGCGCACGCTCCTCAGCT	0.622000													17	75					0	0	0.006122	0	0
OLFM2	93145	broad.mit.edu	37	19	9965102	9965102	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:9965102C>A	ENST00000264833.4	-	6	1310	c.1125G>T	c.(1123-1125)atG>atT	p.M375I	OLFM2_ENST00000590841.1_Missense_Mutation_p.M297I	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	375	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CACCGCAGATCATGAAGGCCT	0.627000													18	72					1.02788e-11	3.23006e-11	0.004990	1	0
ECHDC1	55862	broad.mit.edu	37	6	127652116	127652116	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr6:127652116G>C	ENST00000531967.1	-	2	579	c.76C>G	c.(76-78)Caa>Gaa	p.Q26E	ECHDC1_ENST00000474289.2_Missense_Mutation_p.Q20E|ECHDC1_ENST00000430841.2_Missense_Mutation_p.Q20E|ECHDC1_ENST00000309620.9_Missense_Mutation_p.Q20E|ECHDC1_ENST00000368289.2_Missense_Mutation_p.Q20E|ECHDC1_ENST00000454591.2_Intron|ECHDC1_ENST00000368291.2_Missense_Mutation_p.Q20E|ECHDC1_ENST00000454859.3_Missense_Mutation_p.Q20E|ECHDC1_ENST00000528402.1_Intron	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	26							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		AATCCTGTTTGATGTAGCAAT	0.383000													5	42					0	0	0.001168	0	0
RCOR2	283248	broad.mit.edu	37	11	63681756	63681756	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr11:63681756C>T	ENST00000301459.4	-	7	1039	c.652G>A	c.(652-654)Gat>Aat	p.D218N		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						TCTGCAGGATCGGGCTCTCCC	0.627000													9	34					0	0	0.004482	0	0
SIN3B	23309	broad.mit.edu	37	19	16989464	16989464	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:16989464G>C	ENST00000379803.1	+	20	3429	c.3415G>C	c.(3415-3417)Gag>Cag	p.E1139Q	SIN3B_ENST00000248054.5_Missense_Mutation_p.E1107Q|SIN3B_ENST00000594235.1_3'UTR|SIN3B_ENST00000595541.1_Missense_Mutation_p.E697Q	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	1139					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GACGCTGTGTGAGACAGTGCA	0.687000													4	27					0	0	0.009096	0	0
ZNF337	26152	broad.mit.edu	37	20	25657196	25657196	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr20:25657196C>T	ENST00000376436.1	-	4	1267	c.728G>A	c.(727-729)cGa>cAa	p.R243Q	ZNF337_ENST00000252979.5_Missense_Mutation_p.R243Q|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.R211Q					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCTGAAGCCTCGCCCACACAC	0.537000													24	96					0	0	0.002780	0	0
MED24	9862	broad.mit.edu	37	17	38182548	38182548	+	Silent	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr17:38182548G>A	ENST00000394126.1	-	18	2339	c.1921C>T	c.(1921-1923)Ctg>Ttg	p.L641L	MED24_ENST00000394127.2_Silent_p.L603L|MED24_ENST00000501516.3_Silent_p.L635L|MED24_ENST00000394128.2_Silent_p.L616L|MED24_ENST00000356271.3_Silent_p.L603L			O75448	MED24_HUMAN	mediator complex subunit 24	616					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CACACCGCCAGACTGCATACC	0.562000													22	201					0	0	0.003954	0	0
LIPA	3988	broad.mit.edu	37	10	90988136	90988136	+	Silent	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr10:90988136G>A	ENST00000336233.5	-	4	571	c.249C>T	c.(247-249)ttC>ttT	p.F83F	LIPA_ENST00000456827.1_Silent_p.F83F|LIPA_ENST00000371837.1_Silent_p.F27F			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	83					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		CATGTTGCAGGAAGACAACTG	0.438000													23	41					0	0	0.003954	0	0
UTP20	27340	broad.mit.edu	37	12	101779423	101779423	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr12:101779423G>C	ENST00000261637.4	+	61	8293	c.8119G>C	c.(8119-8121)Gag>Cag	p.E2707Q		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2707					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GGTTGGGCTTGAGAGCTTCTC	0.433000													27	43					0	0	0.005443	0	0
SMARCA4	6597	broad.mit.edu	37	19	11118698	11118698	+	Splice_Site	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:11118698G>C	ENST00000358026.2	+	14	2406	c.2122G>C	c.(2122-2124)Gag>Cag	p.E708Q	SMARCA4_ENST00000541122.2_Splice_Site_p.E708Q|SMARCA4_ENST00000344626.4_Splice_Site_p.E708Q|SMARCA4_ENST00000589677.1_Splice_Site_p.E708Q|SMARCA4_ENST00000444061.3_Splice_Site_p.E708Q|SMARCA4_ENST00000413806.3_Splice_Site_p.E708Q|SMARCA4_ENST00000590574.1_Splice_Site_p.E708Q|SMARCA4_ENST00000429416.3_Splice_Site_p.E708Q|SMARCA4_ENST00000450717.3_Splice_Site_p.E708Q	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	708					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCACATCATTGAGTAAGGGGT	0.592000			"""F, N, Mis"""		NSCLC								4	16					0	0	0.001168	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													4	72					0	0	0.009096	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88916443	88916443	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr9:88916443C>T	ENST00000277141.6	-	27	4459	c.2035G>A	c.(2035-2037)Gag>Aag	p.E679K	ZCCHC6_ENST00000375957.1_Missense_Mutation_p.E290K|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.E1352K|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.E1154K|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.E1390K			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1390					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCTTTGTCCTCTTTGCTTCTT	0.443000													14	94					0	0	0.001855	0	0
NBEAL2	23218	broad.mit.edu	37	3	47036911	47036911	+	Silent	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr3:47036911C>T	ENST00000450053.3	+	13	1865	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.I562I	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	562							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)		GTGCTGTCATCCGCACATTAT	0.652000													8	42					0	0	0.003080	0	0
F12	2161	broad.mit.edu	37	5	176831246	176831246	+	Silent	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr5:176831246C>G	ENST00000253496.3	-	9	1017	c.969G>C	c.(967-969)ccG>ccC	p.P323P		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	323	Pro-rich.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGAGGCTTCGGCGGTGCCG	0.726000									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	19					0	0	0.001168	0	0
CHD7	55636	broad.mit.edu	37	8	61773576	61773576	+	Silent	SNP	T	T	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr8:61773576T>G	ENST00000423902.2	+	35	8201	c.7722T>G	c.(7720-7722)ctT>ctG	p.L2574L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2574					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTATCAATCTTGAAGATGGGA	0.458000													7	38					0	0	0.004482	0	0
TTC39A	22996	broad.mit.edu	37	1	51787490	51787490	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:51787490C>G	ENST00000262676.5	-	2	200	c.40G>C	c.(40-42)Gag>Cag	p.E14Q	TTC39A_ENST00000413473.2_Missense_Mutation_p.E21Q|TTC39A_ENST00000447632.2_Missense_Mutation_p.E18Q|TTC39A_ENST00000451380.1_Missense_Mutation_p.E17Q|TTC39A_ENST00000262675.7_5'UTR|TTC39A_ENST00000371750.5_Missense_Mutation_p.E18Q|TTC39A_ENST00000371747.3_Missense_Mutation_p.E17Q			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	18							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						AGGCTGCTCTCAGGAGTCCTG	0.622000													4	12					0	0	0.009096	0	0
KY	339855	broad.mit.edu	37	3	134323276	134323276	+	Silent	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr3:134323276C>T	ENST00000508956.1	-	10	1125	c.1068G>A	c.(1066-1068)ccG>ccA	p.P356P	KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.P377P			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	377						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TGAACAGCGTCGGGGCGCAGC	0.552000													18	53					0	0	0.010504	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110530434	110530434	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr8:110530434G>T	ENST00000378402.5	+	73	11832	c.11728G>T	c.(11728-11730)Gaa>Taa	p.E3910*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3910					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)			TGTCCTTGGTGAAAACTACTT	0.368000										HNSCC(38;0.096)			7	30					0.00307968	0.00918699	0.003080	1	0
KBTBD6	89890	broad.mit.edu	37	13	41706474	41706474	+	Silent	SNP	A	A	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr13:41706474A>G	ENST00000379485.1	-	1	408	c.174T>C	c.(172-174)gaT>gaC	p.D58D	KBTBD6_ENST00000499385.2_Intron	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	58							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GCAGCCGCGCATCGTAGAAGG	0.612000													14	83					0	0	0.001855	0	0
DRP2	1821	broad.mit.edu	37	X	100497374	100497374	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:100497374C>T	ENST00000395209.3	+	8	1416	c.889C>T	c.(889-891)Cac>Tac	p.H297Y	DRP2_ENST00000538510.1_Missense_Mutation_p.H297Y|DRP2_ENST00000541709.1_Missense_Mutation_p.H219Y|DRP2_ENST00000402866.1_Missense_Mutation_p.H297Y	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	297					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGATCTGGCCCACCAACTTGC	0.498000													52	203					0	0	0.014410	0	0
TMIGD1	388364	broad.mit.edu	37	17	28652020	28652020	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr17:28652020G>C	ENST00000328886.4	-	4	526	c.454C>G	c.(454-456)Caa>Gaa	p.Q152E	TMIGD1_ENST00000538566.2_Missense_Mutation_p.Q152E	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	152	Ig-like C2-type 2.					integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						CACATCATTTGAGCCTGGGGG	0.443000													7	120					0	0	0.003080	0	0
XPR1	9213	broad.mit.edu	37	1	180804090	180804090	+	Silent	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:180804090G>A	ENST00000367590.4	+	10	1413	c.1215G>A	c.(1213-1215)gtG>gtA	p.V405V	XPR1_ENST00000367589.3_Silent_p.V405V	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	405						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GCCTGTCAGTGATACTGATGG	0.428000													9	78					0	0	0.004482	0	0
AGO2	27161	broad.mit.edu	37	8	141567305	141567305	+	Silent	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr8:141567305C>T	ENST00000220592.5	-	8	1021	c.909G>A	c.(907-909)acG>acA	p.T303T	AGO2_ENST00000519980.1_Silent_p.T303T	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		TGCACTCCACCGTCTGCCCGC	0.597000													58	73					0	0	0.014410	0	0
GALNT6	11226	broad.mit.edu	37	12	51749655	51749655	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr12:51749655C>G	ENST00000543196.2	-	10	1895	c.1690G>C	c.(1690-1692)Ggg>Cgg	p.G564R	GALNT6_ENST00000356317.3_Missense_Mutation_p.G564R			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	564	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGACAGCTCCCAAGGCCCAGA	0.517000													22	46					0	0	0.012319	0	0
MRPS10	55173	broad.mit.edu	37	6	42176089	42176089	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr6:42176089C>A	ENST00000053468.3	-	7	559	c.544G>T	c.(544-546)Gaa>Taa	p.E182*		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	182					translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			TTGATGTGTTCTGGTAACTGT	0.343000													6	384					0.00307968	0.00918699	0.003080	1	0
ZNF480	147657	broad.mit.edu	37	19	52825351	52825351	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:52825351G>C	ENST00000595962.1	+	5	914	c.848G>C	c.(847-849)aGa>aCa	p.R283T	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000334564.7_Missense_Mutation_p.R240T|ZNF480_ENST00000335090.6_Missense_Mutation_p.R206T|ZNF480_ENST00000490272.1_3'UTR	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		ATTCATACCAGAGAGAAGCCG	0.348000													7	31					0	0	0.001984	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37454021	37454021	+	Splice_Site	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr10:37454021G>C	ENST00000374660.1	+	18	1933		c.e18-1		ANKRD30A_ENST00000602533.1_Splice_Site|ANKRD30A_ENST00000361713.1_Splice_Site			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACCTTTTATAGATGAGATACT	0.299000													22	60					0	0	0.003954	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166845891	166845891	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr6:166845891C>G	ENST00000510118.1	-	17	1835	c.1495G>C	c.(1495-1497)Gat>Cat	p.D499H	RPS6KA2_ENST00000481261.2_Missense_Mutation_p.D385H|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.D385H|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.D474H|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.D482H			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	474	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCACTCACATCCTTGAGGGTG	0.498000													8	14					0	0	0.003080	0	0
ARHGAP4	393	broad.mit.edu	37	X	153186824	153186824	+	Silent	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:153186824G>A	ENST00000370028.3	-	3	486	c.429C>T	c.(427-429)gtC>gtT	p.V143V	ARHGAP4_ENST00000393721.1_Silent_p.V143V|ARHGAP4_ENST00000370016.1_Silent_p.V143V|ARHGAP4_ENST00000537206.1_Silent_p.V120V|ARHGAP4_ENST00000350060.5_Silent_p.V143V	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	143					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCACCTTCTTGACCAGGCGCC	0.687000													5	28					0	0	0.001984	0	0
TAT	6898	broad.mit.edu	37	16	71606110	71606110	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr16:71606110G>A	ENST00000355962.4	-	6	818	c.685C>T	c.(685-687)Cat>Tat	p.H229Y	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	229					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	TTCTGAAGATGACGTTTGCTG	0.438000													14	29					0	0	0.001855	0	0
ZCWPW1	55063	broad.mit.edu	37	7	99998696	99998696	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr7:99998696C>T	ENST00000398027.2	-	18	2135	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.E459K|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.E459K	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	630							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCTGCAGCTCCCCGCTCTGC	0.607000													4	57					0	0	0.009096	0	0
DIAPH2	1730	broad.mit.edu	37	X	96171543	96171543	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:96171543C>A	ENST00000324765.8	+	8	1186	c.839C>A	c.(838-840)tCt>tAt	p.S280Y	DIAPH2_ENST00000373054.4_Missense_Mutation_p.S276Y|DIAPH2_ENST00000355827.4_Missense_Mutation_p.S280Y|DIAPH2_ENST00000373061.3_Missense_Mutation_p.S280Y|DIAPH2_ENST00000373049.4_Missense_Mutation_p.S280Y			O60879	DIAP2_HUMAN	diaphanous-related formin 2	280	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AAAATACTTTCTGCTATTTGC	0.318000													18	37					1.67942e-08	5.23089e-08	0.006122	1	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535616	27535616	+	RNA	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr10:27535616G>A	ENST00000574842.1	+	0	255																											ATGGGTCTCAGAGCAGTCCAT	0.493000													116	125					0	0	0.014410	0	0
SLC25A25	114789	broad.mit.edu	37	9	130830845	130830845	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr9:130830845G>A	ENST00000373068.2	+	1	366	c.247G>A	c.(247-249)Gag>Aag	p.E83K	SLC25A25_ENST00000373069.5_Missense_Mutation_p.E83K	NM_001006641.3	NP_001006642.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	116	EF-hand 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GCACCGCACCGAGGGCGAGCT	0.721000													5	30					0	0	0.000602	0	0
SIM1	6492	broad.mit.edu	37	6	100896393	100896393	+	Silent	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr6:100896393G>A	ENST00000369208.3	-	7	1487	c.705C>T	c.(703-705)cgC>cgT	p.R235R	SIM1_ENST00000262901.4_Silent_p.R235R			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	235	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.R235R(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCAGGCTGGCGCGGAACATAA	0.617000													8	20					0	0	0.004482	0	0
HJURP	55355	broad.mit.edu	37	2	234750411	234750411	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr2:234750411C>G	ENST00000411486.2	-	8	1080	c.1015G>C	c.(1015-1017)Gat>Cat	p.D339H	HJURP_ENST00000441687.1_Missense_Mutation_p.D254H|HJURP_ENST00000432087.1_Missense_Mutation_p.D285H	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	339					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TTCTTGCAATCTCTTAATGCC	0.428000													5	37					0	0	0.000602	0	0
EPHX2	2053	broad.mit.edu	37	8	27358515	27358515	+	Silent	SNP	C	C	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr8:27358515C>A	ENST00000521400.1	+	2	604	c.174C>A	c.(172-174)atC>atA	p.I58I	EPHX2_ENST00000518379.1_Silent_p.I58I|EPHX2_ENST00000517536.1_Silent_p.I58I|EPHX2_ENST00000380476.3_Silent_p.I5I|EPHX2_ENST00000521780.1_Intron|EPHX2_ENST00000520666.1_3'UTR	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	58	Phosphatase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	AAGGAGAGATCACACTTTCCC	0.522000													7	62					8.12818e-05	0.000248062	0.001984	1	0
KANSL3	55683	broad.mit.edu	37	2	97267955	97267955	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr2:97267955C>G	ENST00000599854.1	-	19	2586	c.2119G>C	c.(2119-2121)Ggt>Cgt	p.G707R	KANSL3_ENST00000487070.1_Intron|KANSL3_ENST00000431828.1_Missense_Mutation_p.G794R|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000440133.1_Missense_Mutation_p.G614R	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	820	Ser-rich.		V -> I (in dbSNP:rs34406082).														GGCTTCCCACCAGGAGTGGCA	0.622000													8	5					0	0	0.004482	0	0
POLH	5429	broad.mit.edu	37	6	43581702	43581702	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr6:43581702C>G	ENST00000372236.4	+	11	1845	c.1550C>G	c.(1549-1551)tCa>tGa	p.S517*	POLH_ENST00000372226.1_3'UTR|POLH_ENST00000535400.1_Nonsense_Mutation_p.S455*	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	517					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TCCAAGCCCTCATTACCTTTT	0.418000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				4	126					0	0	0.009096	0	0
FBXO16	157574	broad.mit.edu	37	8	28304753	28304753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr8:28304753G>A	ENST00000380254.2	-	7	926	c.778C>T	c.(778-780)Cga>Tga	p.R260*	FBXO16_ENST00000346498.2_Nonsense_Mutation_p.R248*|FBXO16_ENST00000518734.1_Nonsense_Mutation_p.R248*	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	260										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TGTGACTGTCGGCTGAAGTCT	0.348000													35	104					0	0	0.004878	0	0
MCF2	4168	broad.mit.edu	37	X	138669900	138669900	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:138669900G>C	ENST00000520602.1	-	25	2962	c.2677C>G	c.(2677-2679)Cag>Gag	p.Q893E	MCF2_ENST00000370578.4_Missense_Mutation_p.Q978E|MCF2_ENST00000338585.6_Missense_Mutation_p.Q849E|MCF2_ENST00000370573.4_Missense_Mutation_p.Q833E|MCF2_ENST00000536274.1_Missense_Mutation_p.Q794E|MCF2_ENST00000519895.1_Missense_Mutation_p.Q909E|MCF2_ENST00000370576.4_Missense_Mutation_p.Q833E|MCF2_ENST00000414978.1_Missense_Mutation_p.Q893E			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	833					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AGAGAAATCTGAAACTTATCC	0.313000													28	67					0	0	0.008361	0	0
RPA4	29935	broad.mit.edu	37	X	96139912	96139912	+	Silent	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:96139912C>T	ENST00000373040.3	+	1	1006	c.603C>T	c.(601-603)atC>atT	p.I201I	DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373049.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	201					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GCAATTTCATCCAGGACGAAG	0.517000								Other identified genes with known or suspected DNA repair function					10	78					0	0	0.010729	0	0
BRF1	2972	broad.mit.edu	37	14	105739116	105739116	+	Silent	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr14:105739116C>T	ENST00000546474.1	-	3	15340	c.381G>A	c.(379-381)aaG>aaA	p.K127K	BRF1_ENST00000440513.3_Silent_p.K12K|BRF1_ENST00000379937.2_Silent_p.K100K|BRF1_ENST00000548421.1_Silent_p.K127K|BRF1_ENST00000327359.3_Silent_p.K12K	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	127					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CGTGGGCCATCTTCCGGCCGC	0.627000													7	65					0	0	0.001984	0	0
AKR7L	246181	broad.mit.edu	37	1	19593913	19593913	+	RNA	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:19593913C>G	ENST00000420396.2	-	0	679				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						TCCAGCTGCTCCAGGCTGGAC	0.622000													9	56					0	0	0.002450	0	0
VEGFC	7424	broad.mit.edu	37	4	177608358	177608358	+	Silent	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr4:177608358G>A	ENST00000280193.2	-	6	1543	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	376					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTTGGTGGTGGAACTTCTTTC	0.368000													9	124					0	0	0.008291	0	0
COL28A1	340267	broad.mit.edu	37	7	7398306	7398306	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr7:7398306G>C	ENST00000399429.3	-	35	3476	c.3336C>G	c.(3334-3336)ttC>ttG	p.F1112L		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	1112	BPTI/Kunitz inhibitor.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTTCACTGTTGAATCTATTTC	0.403000													13	147					0	0	0.001855	0	0
TTC13	79573	broad.mit.edu	37	1	231042679	231042679	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:231042679G>A	ENST00000366661.4	-	23	2562	c.2555C>T	c.(2554-2556)tCt>tTt	p.S852F	TTC13_ENST00000366662.4_Missense_Mutation_p.S798F|TTC13_ENST00000414259.1_Missense_Mutation_p.S799F	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	852							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ACGTGGAGAAGAGTCTGTGTT	0.358000													5	57					0	0	0.000602	0	0
ZNF362	149076	broad.mit.edu	37	1	33745810	33745810	+	Silent	SNP	G	G	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:33745810G>T	ENST00000539719.1	+	5	605	c.435G>T	c.(433-435)ccG>ccT	p.P145P	ZNF362_ENST00000373428.5_Silent_p.P145P	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCAGCACCCCGTCCACACCCA	0.672000													72	142					1.02368e-60	3.29507e-60	0.014410	1	0
CD1A	909	broad.mit.edu	37	1	158224516	158224516	+	Splice_Site	SNP	C	C	T	rs144185153	byFrequency	TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:158224516C>T	ENST00000289429.5	+	1	590	c.57C>T	c.(55-57)gaC>gaT	p.D19D		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	19					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GCAATGCAGACGGTAAGAACT	0.458000													54	62					0	0	0.014410	0	0
ZNF180	7733	broad.mit.edu	37	19	44981601	44981601	+	Missense_Mutation	SNP	G	G	A	rs146300903		TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:44981601G>A	ENST00000221327.4	-	5	1378	c.1097C>T	c.(1096-1098)tCg>tTg	p.S366L	ZNF180_ENST00000391956.4_Missense_Mutation_p.S341L|ZNF180_ENST00000592529.1_Missense_Mutation_p.S339L	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AACAAGATGCGAGCTCCAGCT	0.433000													6	87					0	0	0.001984	0	0
SCYL3	57147	broad.mit.edu	37	1	169833528	169833528	+	Silent	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:169833528G>A	ENST00000367771.6	-	9	1151	c.937C>T	c.(937-939)Ctg>Ttg	p.L313L	SCYL3_ENST00000367772.4_Silent_p.L313L|SCYL3_ENST00000367770.1_Silent_p.L313L|SCYL3_ENST00000470238.1_5'UTR	NM_020423.6	NP_065156.5	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)						cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGGCCAAGCAGATAAGGAAGA	0.403000													14	120					0	0	0.004007	0	0
ZNF699	374879	broad.mit.edu	37	19	9407283	9407283	+	Missense_Mutation	SNP	A	A	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:9407283A>C	ENST00000591998.1	-	6	1025	c.797T>G	c.(796-798)tTt>tGt	p.F266C	ZNF699_ENST00000308650.3_Missense_Mutation_p.F266C			Q32M78	ZN699_HUMAN	zinc finger protein 699	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATGTGCCCTAAAGAATGAGGA	0.393000													8	78					0	0	0.004482	0	0
CDH1	999	broad.mit.edu	37	16	68842716	68842716	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr16:68842716G>T	ENST00000261769.5	+	5	843	c.652G>T	c.(652-654)Gag>Tag	p.E218*	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Nonsense_Mutation_p.E218*	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	218	Cadherin 1.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAAGGTGACAGAGCCTCTGGA	0.473000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				11	17					1.08611e-07	3.35332e-07	0.010729	1	0
LHX2	9355	broad.mit.edu	37	9	126776374	126776374	+	Silent	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr9:126776374C>T	ENST00000373615.4	+	2	994	c.255C>T	c.(253-255)ctC>ctT	p.L85L		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	85	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						AGTGCAAGCTCAACCTGGAGT	0.617000													7	49					0	0	0.001984	0	0
PCF11	51585	broad.mit.edu	37	11	82880300	82880300	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr11:82880300C>T	ENST00000298281.4	+	8	3375	c.2923C>T	c.(2923-2925)Caa>Taa	p.Q975*		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	975	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ACAACATAATCAACTTGGTGG	0.512000													7	23					0	0	0.003080	0	0
TMEM63B	55362	broad.mit.edu	37	6	44122428	44122428	+	Splice_Site	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr6:44122428G>C	ENST00000259746.9	+	24	2490		c.e24-1		TMEM63B_ENST00000323267.6_Splice_Site			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B							integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TCCTCCTTCAGAAATACATCG	0.617000													6	53					0	0	0.001168	0	0
TXNIP	10628	broad.mit.edu	37	1	145440904	145440904	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:145440904C>T	ENST00000369317.4	+	7	1325	c.991C>T	c.(991-993)Cct>Tct	p.P331S	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	331					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTTTCTAGCTCCTCCCTGCTA	0.448000													11	142					0	0	0.008291	0	0
APPL1	26060	broad.mit.edu	37	3	57283546	57283546	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr3:57283546G>A	ENST00000288266.3	+	11	1169	c.1022G>A	c.(1021-1023)tGt>tAt	p.C341Y		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	341	PH.|Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		AGACGATATTGTTTTCAGATC	0.383000													15	86					0	0	0.003163	0	0
CSMD3	114788	broad.mit.edu	37	8	113599417	113599417	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr8:113599417G>C	ENST00000297405.5	-	23	4007	c.3763C>G	c.(3763-3765)Cca>Gca	p.P1255A	CSMD3_ENST00000455883.2_Missense_Mutation_p.P1151A|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1255A|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1215A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1255	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGATAATTTGGAGACAGCAAA	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	94					0	0	0.001984	0	0
CHAF1B	8208	broad.mit.edu	37	21	37775096	37775096	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr21:37775096C>G	ENST00000314103.5	+	8	855	c.704C>G	c.(703-705)tCt>tGt	p.S235C		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)						cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						AGCATGAAGTCTTTCTTCCGT	0.428000													5	363					0	0	0.001168	0	0
RFWD2	64326	broad.mit.edu	37	1	176132971	176132971	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:176132971C>G	ENST00000367669.3	-	4	1136	c.622G>C	c.(622-624)Gac>Cac	p.D208H	RFWD2_ENST00000308769.8_Missense_Mutation_p.D208H	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	208					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACTGAGTGGTCCAATTTGAAC	0.269000													4	34					0	0	0.009096	0	0
GOLGB1	2804	broad.mit.edu	37	3	121410077	121410077	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr3:121410077C>G	ENST00000393667.3	-	14	8244	c.8134G>C	c.(8134-8136)Gag>Cag	p.E2712Q	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E2707Q	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2707					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTTGCTAGCTCTGCCACTCTC	0.378000													13	358					0	0	0.002450	0	0
ADRA1D	146	broad.mit.edu	37	20	4202275	4202275	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr20:4202275C>G	ENST00000379453.4	-	2	1730	c.1614G>C	c.(1612-1614)gaG>gaC	p.E538D		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	538				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	CAGCCTCCACCTCTGAGCGCT	0.692000													20	50					0	0	0.012319	0	0
F8	2157	broad.mit.edu	37	X	154225344	154225344	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:154225344C>T	ENST00000360256.4	-	3	492	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	98	F5/8 type A 1.|Plastocyanin-like 1.		E -> K (in HEMA; severe).		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)	TCATAAACCTCAGCCTGGATG	0.448000													37	157					0	0	0.004878	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798393	185798393	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr2:185798393G>A	ENST00000302277.6	+	3	913	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	107						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAGGAAAGATGAAAGAAAACA	0.363000													4	41					0	0	0.009096	0	0
NAV1	89796	broad.mit.edu	37	1	201750208	201750208	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:201750208G>C	ENST00000367296.4	+	5	1854	c.1434G>C	c.(1432-1434)gaG>gaC	p.E478D	NAV1_ENST00000295624.6_Missense_Mutation_p.E478D|NAV1_ENST00000367302.1_Missense_Mutation_p.E491D|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.E478D|NAV1_ENST00000367295.1_Missense_Mutation_p.E87D|NAV1_ENST00000367297.4_Missense_Mutation_p.E478D	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	478					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AATCAGAGGAGAAAGCCCCTA	0.498000													4	74					0	0	0.000602	0	0
CDH12	1010	broad.mit.edu	37	5	22078740	22078740	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr5:22078740C>G	ENST00000382254.1	-	5	1132	c.46G>C	c.(46-48)Gat>Cat	p.D16H	CDH12_ENST00000504376.2_Missense_Mutation_p.D16H|CDH12_ENST00000522262.1_Missense_Mutation_p.D16H	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	16					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGACCTCCATCAAACAGAACC	0.443000										HNSCC(59;0.17)			11	389					0	0	0.008291	0	0
TANC1	85461	broad.mit.edu	37	2	160085383	160085383	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr2:160085383G>C	ENST00000263635.6	+	26	4364	c.4127G>C	c.(4126-4128)aGa>aCa	p.R1376T	TANC1_ENST00000454300.1_Missense_Mutation_p.R1270T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1376						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTTTATGCCAGAGCAAGAGCG	0.463000													15	70					0	0	0.003163	0	0
CUBN	8029	broad.mit.edu	37	10	16957095	16957095	+	Silent	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr10:16957095C>T	ENST00000377833.4	-	47	7352	c.7287G>A	c.(7285-7287)agG>agA	p.R2429R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2429	CUB 17.				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)	CTGTGACAAACCTGACCACAG	0.428000													20	59					0	0	0.010504	0	0
CDH8	1006	broad.mit.edu	37	16	61854982	61854982	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr16:61854982G>A	ENST00000577390.1	-	6	1825	c.871C>T	c.(871-873)Ctt>Ttt	p.L291F	CDH8_ENST00000299345.6_Missense_Mutation_p.L291F|CDH8_ENST00000584337.1_Missense_Mutation_p.L291F|CDH8_ENST00000577730.1_Missense_Mutation_p.L291F	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	291	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCAGTGCCAAGAACCACATCT	0.408000													9	24					0	0	0.004482	0	0
CDC5L	988	broad.mit.edu	37	6	44360561	44360561	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr6:44360561C>G	ENST00000371477.3	+	3	606	c.307C>G	c.(307-309)Ctt>Gtt	p.L103V		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	103	HTH myb-type 2.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTATGAATTTCTTCTGTAAGT	0.373000													6	62					0	0	0.001168	0	0
ACY1	95	broad.mit.edu	37	3	52020495	52020495	+	Silent	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr3:52020495G>A	ENST00000458031.2	+	9	1002	c.771G>A	c.(769-771)ctG>ctA	p.L257L	ABHD14A-ACY1_ENST00000463937.1_Silent_p.L268L|ACY1_ENST00000494103.1_Intron|ACY1_ENST00000476854.1_Silent_p.L167L|ACY1_ENST00000476351.1_Silent_p.L132L|ACY1_ENST00000404366.2_Silent_p.L167L			Q03154	ACY1_HUMAN	aminoacylase 1	167					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	TCCACGCCCTGAGGGCAGGCT	0.617000													10	35					0	0	0.006214	0	0
MAP1LC3C	440738	broad.mit.edu	37	1	242159687	242159687	+	Splice_Site	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:242159687C>G	ENST00000357246.3	-	4	286	c.222G>C	c.(220-222)cgG>cgC	p.R74R		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	74					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCATGCGGCTCCTGGGATGGG	0.557000													9	50					0	0	0.006214	0	0
AIF1	199	broad.mit.edu	37	6	31584599	31584599	+	Silent	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr6:31584599G>C	ENST00000376059.3	+	6	512	c.366G>C	c.(364-366)ctG>ctC	p.L122L	AIF1_ENST00000376049.4_Silent_p.L68L	NM_001623.3	NP_001614.3	P55008	AIF1_HUMAN	allograft inflammatory factor 1	122					actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding			lung(2)|ovary(1)	3						CCAGGATCCTGATGTATGAGG	0.498000													5	54					0	0	0.003080	0	0
C12orf66	144577	broad.mit.edu	37	12	64588242	64588242	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr12:64588242G>C	ENST00000311915.8	-	3	745	c.718C>G	c.(718-720)Ctg>Gtg	p.L240V	C12orf66_ENST00000398055.3_Missense_Mutation_p.L240V|C12orf66_ENST00000544871.1_Missense_Mutation_p.L187V			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	240										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						CCTCCAAACAGATGTTTCTTG	0.483000													11	38					0	0	0.013537	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786537	19786537	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr9:19786537C>G	ENST00000341998.2	-	1	389	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	SLC24A2_ENST00000286344.3_Missense_Mutation_p.E110Q	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	110					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GTACTATTCTCAGACTCGCCT	0.438000													24	59					0	0	0.004656	0	0
EXPH5	23086	broad.mit.edu	37	11	108384027	108384027	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr11:108384027G>A	ENST00000265843.4	-	6	2317	c.2207C>T	c.(2206-2208)tCa>tTa	p.S736L	EXPH5_ENST00000443411.1_Missense_Mutation_p.S548L|EXPH5_ENST00000428840.1_Missense_Mutation_p.S660L|EXPH5_ENST00000525344.1_Missense_Mutation_p.S729L	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	736					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TAAAGAGTTTGAGATCCCTGT	0.393000													15	65					0	0	0.002450	0	0
ZNF616	90317	broad.mit.edu	37	19	52618827	52618827	+	Silent	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:52618827G>A	ENST00000600228.1	-	4	1851	c.1590C>T	c.(1588-1590)ttC>ttT	p.F530F	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AACGGTCACTGAAGACCTTGC	0.443000													18	74					0	0	0.007413	0	0
GTF2IRD2B	389524	broad.mit.edu	37	7	74564077	74564077	+	Silent	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr7:74564077C>T	ENST00000312575.7	+	16	1999	c.1824C>T	c.(1822-1824)atC>atT	p.I608I	GTF2IRD2B_ENST00000418185.2_Silent_p.I155I	NM_001003795.2	NP_001003795.1	Q6EKJ0	GTD2B_HUMAN	GTF2I repeat domain containing 2B	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|ovary(2)|prostate(1)	4						agttctgtatcaactggtcga	0.512000													38	71					0	0	0.004878	0	0
ZC3H13	23091	broad.mit.edu	37	13	46538069	46538069	+	Missense_Mutation	SNP	A	A	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr13:46538069A>C	ENST00000242848.4	-	17	4928	c.4580T>G	c.(4579-4581)aTg>aGg	p.M1527R	ZC3H13_ENST00000282007.3_Missense_Mutation_p.M1528R|ZC3H13_ENST00000378921.2_Missense_Mutation_p.M483R			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1527							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		AACTCTTAGCATAACAGCTCC	0.423000													21	30					0	0	0.010504	0	0
MOCS2	4338	broad.mit.edu	37	5	52396276	52396276	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr5:52396276C>A	ENST00000396954.3	-	6	1143	c.466G>T	c.(466-468)Gat>Tat	p.D156Y	MOCS2_ENST00000508922.1_Intron|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000582677.1_3'UTR	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				TTTAAAGTATCAATGGCATAG	0.388000													8	65					0.000274275	0.000829878	0.004482	1	0
RORA	6095	broad.mit.edu	37	15	60795025	60795025	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr15:60795025C>T	ENST00000335670.6	-	8	1217	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N	RORA_ENST00000261523.5_Missense_Mutation_p.D406N|RORA_ENST00000309157.4_Missense_Mutation_p.D398N|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.D318N|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	406	Ligand-binding.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TTCTGAGAGTCAAAGGCACGG	0.453000													42	271					0	0	0.009718	0	0
PCDH15	65217	broad.mit.edu	37	10	55839096	55839096	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr10:55839096C>T	ENST00000373965.2	-	18	2501	c.2107G>A	c.(2107-2109)Gat>Aat	p.D703N	PCDH15_ENST00000395432.2_Missense_Mutation_p.D659N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D625N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.D696N|PCDH15_ENST00000395446.1_Missense_Mutation_p.D696N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D703N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D696N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D674N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D696N|PCDH15_ENST00000373957.3_Missense_Mutation_p.D674N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D701N|PCDH15_ENST00000409834.1_Missense_Mutation_p.D307N|PCDH15_ENST00000395430.1_Missense_Mutation_p.D696N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D696N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	696	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTCACCCCATCTGGCCTGCCA	0.428000										HNSCC(58;0.16)			15	110					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179416911	179416911	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr2:179416911G>A	ENST00000589042.1	-	335	90940	c.90716C>T	c.(90715-90717)gCt>gTt	p.A30239V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A21299V|TTN_ENST00000342992.6_Missense_Mutation_p.A27671V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A21174V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A28598V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A21366V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28598	Fibronectin type-III 120.						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)			GACACTATCAGCCTTGATTTC	0.448000													14	87					0	0	0.001855	0	0
IWS1	55677	broad.mit.edu	37	2	128253645	128253645	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr2:128253645C>A	ENST00000295321.4	-	7	1904	c.1645G>T	c.(1645-1647)Ggt>Tgt	p.G549C	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_3'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	549					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AAGGTGCCACCATCGCGGTTC	0.478000													5	240					0.00116845	0.00350534	0.001168	1	0
POLH	5429	broad.mit.edu	37	6	43581801	43581801	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr6:43581801C>G	ENST00000372236.4	+	11	1944	c.1649C>G	c.(1648-1650)tCt>tGt	p.S550C	POLH_ENST00000372226.1_3'UTR|POLH_ENST00000535400.1_Missense_Mutation_p.S488C	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	550					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TCTTCAGTTTCTTCCCCCCAA	0.423000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				4	148					0	0	0.001168	0	0
MYT1	4661	broad.mit.edu	37	20	62842624	62842624	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr20:62842624G>A	ENST00000536311.1	+	8	1721	c.1357G>A	c.(1357-1359)Gtt>Att	p.V453I	MYT1_ENST00000360149.4_Missense_Mutation_p.V155I|MYT1_ENST00000328439.1_Missense_Mutation_p.V453I			Q01538	MYT1_HUMAN	myelin transcription factor 1	453					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CACTGGCCACGTTACCGGGTT	0.542000													25	35					0	0	0.005443	0	0
IPO8	10526	broad.mit.edu	37	12	30787179	30787179	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr12:30787179G>C	ENST00000256079.4	-	23	3075	c.2737C>G	c.(2737-2739)Caa>Gaa	p.Q913E	IPO8_ENST00000544829.1_Missense_Mutation_p.Q708E	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	913					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TGCATTGCTTGAGCAGTTACA	0.388000													13	46					0	0	0.002450	0	0
PLA2G5	5322	broad.mit.edu	37	1	20412658	20412658	+	Silent	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:20412658C>T	ENST00000375108.3	+	3	391	c.123C>T	c.(121-123)taC>taT	p.Y41Y	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	41					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		TGACAAACTACGGCTTCTACG	0.567000													23	45					0	0	0.005443	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48131869	48131869	+	Silent	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr12:48131869G>A	ENST00000405493.2	-	27	2672	c.2463C>T	c.(2461-2463)ctC>ctT	p.L821L	RAPGEF3_ENST00000389212.3_Silent_p.L863L|RAPGEF3_ENST00000449771.2_Silent_p.L863L|RAPGEF3_ENST00000549151.1_Silent_p.L821L|RAPGEF3_ENST00000171000.4_Silent_p.L821L|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000548919.1_Silent_p.L754L	NM_001098532.2|NM_006105.5	NP_001092002|NP_006096	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	821					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TGAGTGGTGAGAGAGGCACTG	0.672000													6	10					0	0	0.001168	0	0
USP35	57558	broad.mit.edu	37	11	77918604	77918604	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr11:77918604G>A	ENST00000529308.1	+	8	1681	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Missense_Mutation_p.E205K|USP35_ENST00000441408.2_Missense_Mutation_p.E60K|USP35_ENST00000530267.1_Missense_Mutation_p.E42K	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	474					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCGCTTGACTGAGAACAACTC	0.567000													9	113					0	0	0.008291	0	0
CSMD2	114784	broad.mit.edu	37	1	34254247	34254247	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:34254247C>G	ENST00000373381.4	-	12	1793	c.1617G>C	c.(1615-1617)caG>caC	p.Q539H	CSMD2_ENST00000338325.1_Missense_Mutation_p.Q147H	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	499	Sushi 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCCATCAGTCTGGAAGAGGA	0.517000													6	67					0	0	0.003080	0	0
TMC7	79905	broad.mit.edu	37	16	19058553	19058553	+	Silent	SNP	C	C	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr16:19058553C>A	ENST00000421369.3	+	12	1950	c.1392C>A	c.(1390-1392)atC>atA	p.I464I	TMC7_ENST00000304381.5_Silent_p.I574I|TMC7_ENST00000569532.1_Silent_p.I574I	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	574						integral to membrane		p.I574I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						AATTCATTATCATCTTCTATG	0.502000													35	225					2.47316e-13	7.81813e-13	0.003271	1	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													5	18					0	0	0.000602	0	0
ZIM2	23619	broad.mit.edu	37	19	57286747	57286747	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:57286747G>A	ENST00000391708.3	-	12	1435	c.893C>T	c.(892-894)tCa>tTa	p.S298L	ZIM2_ENST00000599935.1_Missense_Mutation_p.S298L|ZIM2_ENST00000601070.1_Missense_Mutation_p.S298L|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.S298L|ZIM2_ENST00000593711.1_Missense_Mutation_p.S298L	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		AGGATCCTTTGATTGTTTACT	0.448000													24	30					0	0	0.002780	0	0
SOGA3	387104	broad.mit.edu	37	6	127796503	127796503	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr6:127796503C>T	ENST00000556132.1	-	6	3532	c.2668G>A	c.(2668-2670)Gac>Aac	p.D890N	SOGA3_ENST00000465909.2_Missense_Mutation_p.D890N|SOGA3_ENST00000368268.2_Missense_Mutation_p.D890N|SOGA3_ENST00000525778.1_Missense_Mutation_p.D890N|SOGA3_ENST00000481848.2_Missense_Mutation_p.D890N|SOGA3_ENST00000474293.2_5'UTR	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	890						integral to membrane											TCGAGGCGGTCGATGAAGGTC	0.652000													13	69					0	0	0.003163	0	0
CLPP	8192	broad.mit.edu	37	19	6364637	6364637	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:6364637C>T	ENST00000245816.4	+	4	665	c.542C>T	c.(541-543)tCa>tTa	p.S181L	CLPP_ENST00000596605.1_Intron|CLPP_ENST00000596149.1_Missense_Mutation_p.S94L	NM_006012.2	NP_006003.1	Q16740	CLPP_HUMAN	caseinolytic mitochondrial matrix peptidase proteolytic subunit	181					proteolysis	mitochondrial matrix	ATP binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|ovary(2)	6						CACCAGCCCTCAGGAGGCGCC	0.667000													5	22					0	0	0.000602	0	0
MCCC2	64087	broad.mit.edu	37	5	70945948	70945948	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr5:70945948G>C	ENST00000340941.6	+	15	1555	c.1426G>C	c.(1426-1428)Gag>Cag	p.E476Q	MCCC2_ENST00000323375.8_Missense_Mutation_p.E438Q	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	476	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GATGGGAGGAGAGCAGGCAGC	0.458000													11	52					0	0	0.001855	0	0
C9	735	broad.mit.edu	37	5	39306788	39306788	+	Silent	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr5:39306788C>T	ENST00000263408.4	-	9	1442	c.1347G>A	c.(1345-1347)gtG>gtA	p.V449V		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	449	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCACATCAATCACGGTTCCTC	0.383000													13	125					0	0	0.001855	0	0
LRP1	4035	broad.mit.edu	37	12	57586655	57586655	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr12:57586655A>G	ENST00000243077.3	+	45	7923	c.7457A>G	c.(7456-7458)aAc>aGc	p.N2486S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2486	EGF-like 10.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGAATCAACAACGGTGGCTGC	0.622000													26	84					0	0	0.003954	0	0
FNBP1	23048	broad.mit.edu	37	9	132687318	132687318	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr9:132687318G>C	ENST00000420781.1	-	9	1126	c.908C>G	c.(907-909)tCc>tGc	p.S303C	FNBP1_ENST00000446176.2_Missense_Mutation_p.S303C|FNBP1_ENST00000355681.3_Missense_Mutation_p.S303C|FNBP1_ENST00000478129.1_5'UTR			Q96RU3	FNBP1_HUMAN	formin binding protein 1	303	Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTCTCCTCTGGAATTTGAAAG	0.423000			T	MLL	AML								4	33					0	0	0.009096	0	0
WAPAL	23063	broad.mit.edu	37	10	88211774	88211774	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr10:88211774C>T	ENST00000298767.5	-	15	3536	c.3064G>A	c.(3064-3066)Gat>Aat	p.D1022N	WAPAL_ENST00000263070.7_Intron|WAPAL_ENST00000372075.1_Intron	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1022	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CTTAAACTATCATCCCCTTCT	0.418000													29	40					0	0	0.009535	0	0
GFRA3	2676	broad.mit.edu	37	5	137593637	137593637	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr5:137593637G>A	ENST00000274721.3	-	4	722	c.476C>T	c.(475-477)tCa>tTa	p.S159L	GFRA3_ENST00000378362.3_Missense_Mutation_p.S128L	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	159					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCAGAGGTCTGAGTCTGGGGG	0.627000													12	19					0	0	0.010729	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													8	29					0	0	0.003080	0	0
ELF4	2000	broad.mit.edu	37	X	129200776	129200776	+	Silent	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:129200776G>A	ENST00000308167.5	-	9	2291	c.1912C>T	c.(1912-1914)Ctg>Ttg	p.L638L	ELF4_ENST00000335997.7_Silent_p.L638L	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	638					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GATCTTGTCAGAAGGCTCCCA	0.572000			T	ERG	AML								7	199					0	0	0.001984	0	0
KCTD11	147040	broad.mit.edu	37	17	7256890	7256890	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr17:7256890G>A	ENST00000333751.3	+	1	1683	c.629G>A	c.(628-630)cGa>cAa	p.R210Q	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	210					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CACGGCTTCCGACTAGACTCT	0.647000													5	26					0	0	0.000602	0	0
TOP1MT	116447	broad.mit.edu	37	8	144411524	144411524	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr8:144411524C>T	ENST00000523676.1	-	4	467	c.62G>A	c.(61-63)cGa>cAa	p.R21Q	TOP1MT_ENST00000329245.4_Missense_Mutation_p.R119Q|TOP1MT_ENST00000519148.1_Missense_Mutation_p.R21Q|TOP1MT_ENST00000521193.1_Missense_Mutation_p.R21Q			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	119					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	ACCTACCTTTCGCCAGTCATT	0.567000													7	93					0	0	0.001984	0	0
MUM1	84939	broad.mit.edu	37	19	1376574	1376574	+	Nonstop_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:1376574G>C	ENST00000311401.5	+	14	2314	c.1928G>C	c.(1927-1929)tGa>tCa	p.*643S	MUM1_ENST00000591806.1_Nonstop_Mutation_p.*712S|MUM1_ENST00000344663.3_Nonstop_Mutation_p.*712S|MUM1_ENST00000591453.1_3'UTR|MUM1_ENST00000415183.3_3'UTR			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	0					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCGTCGGTGAGGGAGCAGC	0.547000													13	42					0	0	0.001855	0	0
HIST1H2AG	8969	broad.mit.edu	37	6	27101214	27101214	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr6:27101214G>C	ENST00000359193.2	+	1	383	c.364G>C	c.(364-366)Gag>Cag	p.E122Q		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	122					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	p.E122Q(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						CAAAAAGACTGAGAGCCACCA	0.547000													6	90					0	0	0.001984	0	0
FRMPD4	9758	broad.mit.edu	37	X	12712483	12712483	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:12712483G>C	ENST00000380682.1	+	9	1349	c.843G>C	c.(841-843)atG>atC	p.M281I		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	281	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.M271I(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCCATAAGATGAGATGTCTTT	0.448000													5	77					0	0	0.000602	0	0
SNHG14	104472715	broad.mit.edu	37	15	25514954	25514954	+	RNA	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr15:25514954G>A	ENST00000554726.1	+	0	47				SNHG14_ENST00000452731.1_RNA|SNORD115-48_ENST00000364764.1_RNA																							ATGTTACCTTGAAGAGAAATG	0.408000													4	37					0	0	0.000602	0	0
KDELC1	79070	broad.mit.edu	37	13	103445990	103445990	+	Missense_Mutation	SNP	C	C	G	rs144061173		TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr13:103445990C>G	ENST00000376004.4	-	3	891	c.555G>C	c.(553-555)caG>caC	p.Q185H	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	185						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGCTCTGCCTCTGTCCAAATC	0.383000													5	103					0	0	0.001984	0	0
SYNE3	161176	broad.mit.edu	37	14	95921869	95921869	+	Missense_Mutation	SNP	G	G	A	rs145141808	byFrequency	TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr14:95921869G>A	ENST00000334258.5	-	5	996	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W	SYNE3_ENST00000557275.1_Missense_Mutation_p.R328W|SYNE3_ENST00000553340.1_Missense_Mutation_p.R328W|SYNE3_ENST00000554873.1_Missense_Mutation_p.R85W	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CCCCTGGACCGGAGCAGGCCC	0.637000													5	98					0	0	0.001168	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													5	163					0	0	0.001984	0	0
OR9A2	135924	broad.mit.edu	37	7	142724023	142724023	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr7:142724023G>C	ENST00000350513.2	-	1	259	c.197C>G	c.(196-198)tCt>tGt	p.S66C		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					CTCCAGGGTAGAGAGGTGGCT	0.458000													14	114					0	0	0.004007	0	0
OR5D14	219436	broad.mit.edu	37	11	55563247	55563247	+	Silent	SNP	T	T	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr11:55563247T>C	ENST00000335605.1	+	1	216	c.216T>C	c.(214-216)gaT>gaC	p.D72D		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CTTTTGTTGATTTTTGTTACT	0.388000													43	29					0	0	0.010771	0	0
KAT2B	8850	broad.mit.edu	37	3	20164236	20164236	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr3:20164236G>A	ENST00000263754.4	+	9	1808	c.1353G>A	c.(1351-1353)atG>atA	p.M451I		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	451					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						ATATTCCGATGGAATTAATCA	0.478000													19	34					0	0	0.008871	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650075	75650075	+	Silent	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:75650075G>C	ENST00000361470.2	+	1	2030	c.1752G>C	c.(1750-1752)ctG>ctC	p.L584L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	584	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TGGGCCTCCTGATGATGATTC	0.517000													5	17					0	0	0.001168	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86521058	86521058	+	Silent	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr7:86521058G>A	ENST00000450689.2	-	21	3197	c.3012C>T	c.(3010-3012)ctC>ctT	p.L1004L	KIAA1324L_ENST00000416314.1_Silent_p.L837L|KIAA1324L_ENST00000297222.6_Silent_p.L764L|KIAA1324L_ENST00000444627.1_Silent_p.L933L	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	1004						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCAAAGATTTGAGTTTTCCTA	0.393000													9	95					0	0	0.006214	0	0
TENM2	57451	broad.mit.edu	37	5	167674305	167674305	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr5:167674305G>C	ENST00000519204.1	+	26	6116	c.5998G>C	c.(5998-6000)Gag>Cag	p.E2000Q	TENM2_ENST00000518659.1_Missense_Mutation_p.E2121Q|TENM2_ENST00000545108.1_Missense_Mutation_p.E2120Q|TENM2_ENST00000520394.1_Missense_Mutation_p.E1882Q|TENM2_ENST00000403607.2_Missense_Mutation_p.E1945Q					teneurin transmembrane protein 2																		CCGCTATGATGAGATTTCTGG	0.483000													22	111					0	0	0.002780	0	0
ERCC6	2074	broad.mit.edu	37	10	50678385	50678385	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr10:50678385C>G	ENST00000355832.5	-	18	3699	c.3621G>C	c.(3619-3621)aaG>aaC	p.K1207N	ERCC6_ENST00000542458.1_Missense_Mutation_p.K577N|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1207					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCTTAGAGTTCTTAGGCTTTT	0.408000								Direct reversal of damage;Nucleotide excision repair (NER)					5	260					0	0	0.000602	0	0
RBM15	64783	broad.mit.edu	37	1	110882292	110882292	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:110882292G>A	ENST00000369784.3	+	1	1165	c.265G>A	c.(265-267)Gat>Aat	p.D89N	RBM15_ENST00000487146.2_Missense_Mutation_p.D89N|RBM15_ENST00000602849.1_Missense_Mutation_p.D89N	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	89	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGGAAAGACCGATAGCGGCGG	0.652000			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	27					0	0	0.004990	0	0
DYRK3	8444	broad.mit.edu	37	1	206822066	206822066	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:206822066C>G	ENST00000367106.1	+	4	1936	c.1463C>G	c.(1462-1464)tCt>tGt	p.S488C	DYRK3_ENST00000367108.3_Missense_Mutation_p.S488C|DYRK3_ENST00000367109.2_Missense_Mutation_p.S508C|DYRK3_ENST00000489878.1_Intron			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	508	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TGGGACCCCTCTGCCCGCTTG	0.537000													13	95					0	0	0.013537	0	0
ACTC1	70	broad.mit.edu	37	15	35084480	35084480	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr15:35084480C>T	ENST00000290378.4	-	5	1274	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	207					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ATTTCACGTTCAGCTACAGAA	0.473000													4	48					0	0	0.009096	0	0
ACIN1	22985	broad.mit.edu	37	14	23547473	23547473	+	Silent	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr14:23547473C>T	ENST00000262710.1	-	8	2511	c.2184G>A	c.(2182-2184)ggG>ggA	p.G728G	ACIN1_ENST00000555053.1_Silent_p.G728G|ACIN1_ENST00000457657.1_Silent_p.G688G|ACIN1_ENST00000605057.1_Silent_p.G670G|ACIN1_ENST00000555352.1_5'UTR	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	728					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCTTTGGGCTCCCCTGTCAGG	0.498000													5	65					0	0	0.000602	0	0
DOCK1	1793	broad.mit.edu	37	10	128840895	128840895	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr10:128840895C>T	ENST00000280333.6	+	20	2063	c.1954C>T	c.(1954-1956)Cag>Tag	p.Q652*		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	652	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GCAGTTTCTTCAGGACACGTT	0.468000													7	86					0	0	0.001984	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146077608	146077608	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr5:146077608C>G	ENST00000394413.3	-	3	838	c.268G>C	c.(268-270)Gaa>Caa	p.E90Q	PPP2R2B_ENST00000336640.6_Missense_Mutation_p.E93Q|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.E79Q|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.E90Q|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.E90Q|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.E90Q|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.E96Q|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.E148Q|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.E156Q|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.E79Q			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	90					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)			TTGATTTTTTCTTCTATTTCT	0.388000													15	94					0	0	0.004990	0	0
PRKDC	5591	broad.mit.edu	37	8	48731993	48731993	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr8:48731993G>A	ENST00000314191.2	-	68	9468	c.9412C>T	c.(9412-9414)Cag>Tag	p.Q3138*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.Q3138*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3139	FAT.|KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATGAACTCCTGAATTTCTGTT	0.284000								Non-homologous end-joining					10	82					0	0	0.013537	0	0
ZPBP	11055	broad.mit.edu	37	7	50121408	50121408	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr7:50121408G>A	ENST00000046087.2	-	3	365	c.296C>T	c.(295-297)tCa>tTa	p.S99L	ZPBP_ENST00000419417.1_Missense_Mutation_p.S99L	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	99					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CCATTGGAATGATGGGTCTAT	0.358000													5	53					0	0	0.000602	0	0
MAGI2	9863	broad.mit.edu	37	7	77649004	77649004	+	Silent	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr7:77649004G>C	ENST00000354212.4	-	22	4249	c.3996C>G	c.(3994-3996)ccC>ccG	p.P1332P	MAGI2_ENST00000419488.1_Silent_p.P1318P|MAGI2_ENST00000522391.1_3'UTR	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1332						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				cctggccgccgggcgccTCCT	0.816000													6	7					0	0	0.001168	0	0
P4HA3	283208	broad.mit.edu	37	11	73997313	73997313	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr11:73997313C>G	ENST00000331597.4	-	6	938	c.893G>C	c.(892-894)aGa>aCa	p.R298T	P4HA3_ENST00000427714.2_Missense_Mutation_p.R298T	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	298						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GTAGGTGTCTCTGGTCTGCAG	0.542000													4	173					0	0	0.009096	0	0
POLH	5429	broad.mit.edu	37	6	43581462	43581462	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr6:43581462C>G	ENST00000372236.4	+	11	1605	c.1310C>G	c.(1309-1311)tCt>tGt	p.S437C	POLH_ENST00000372226.1_Intron|POLH_ENST00000535400.1_Missense_Mutation_p.S375C	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	437					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CCTTCATCTTCTACAGACATC	0.473000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				4	202					0	0	0.009096	0	0
RPL11	6135	broad.mit.edu	37	1	24020313	24020313	+	Silent	SNP	A	A	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:24020313A>G	ENST00000374550.3	+	3	219	c.174A>G	c.(172-174)agA>agG	p.R58R	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	58					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		ACACTGTCAGATCCTTTGGCA	0.493000													8	31					0	0	0.003080	0	0
SLC27A2	11001	broad.mit.edu	37	15	50475065	50475065	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr15:50475065C>G	ENST00000267842.5	+	1	673	c.441C>G	c.(439-441)ttC>ttG	p.F147L	SLC27A2_ENST00000380902.4_Missense_Mutation_p.F147L	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	147					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TGCACTGCTTCCAGTGCTGCG	0.667000													18	218					0	0	0.008871	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962661	41962661	+	RNA	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr9:41962661G>A	ENST00000454645.1	-	0	843					NR_003670.1																						TTTCCCCTCCGTTGTTTGTCC	0.368000													4	20					0	0	0.001168	0	0
BCAN	63827	broad.mit.edu	37	1	156621263	156621263	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:156621263C>T	ENST00000329117.5	+	7	1415	c.1079C>T	c.(1078-1080)tCt>tTt	p.S360F	BCAN_ENST00000361588.5_Missense_Mutation_p.S360F|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican						cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCCAGCCTTCTGCCATCCCT	0.577000													7	67					0	0	0.004482	0	0
PBRM1	55193	broad.mit.edu	37	3	52598085	52598085	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr3:52598085C>T	ENST00000356770.4	-	22	3762	c.3760G>A	c.(3760-3762)Gat>Aat	p.D1254N	PBRM1_ENST00000409767.1_Missense_Mutation_p.D1301N|PBRM1_ENST00000337303.4_Missense_Mutation_p.D1286N|PBRM1_ENST00000410007.1_Missense_Mutation_p.D1261N|PBRM1_ENST00000409057.1_Missense_Mutation_p.D1286N|PBRM1_ENST00000296302.7_Missense_Mutation_p.D1286N|PBRM1_ENST00000394830.3_Missense_Mutation_p.D1261N|PBRM1_ENST00000409114.3_Missense_Mutation_p.D1301N|SMIM4_ENST00000476842.1_Intron			Q86U86	PB1_HUMAN	polybromo 1	1286	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TAAATTTCATCATCTACCACT	0.363000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								23	30					0	0	0.014323	0	0
KCNH5	27133	broad.mit.edu	37	14	63416985	63416985	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr14:63416985C>T	ENST00000322893.7	-	7	1503	c.1235G>A	c.(1234-1236)gGa>gAa	p.G412E	KCNH5_ENST00000394968.1_Missense_Mutation_p.G354E|KCNH5_ENST00000394964.2_Missense_Mutation_p.G354E|KCNH5_ENST00000420622.2_Missense_Mutation_p.G412E	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	412					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTTGCTGGGTCCTCCTTCCCA	0.473000													7	69					0	0	0.001984	0	0
SLC16A1	6566	broad.mit.edu	37	1	113456600	113456600	+	Silent	SNP	C	C	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:113456600C>A	ENST00000538576.1	-	5	2247	c.1416G>T	c.(1414-1416)ggG>ggT	p.G472G	SLC16A1_ENST00000369626.3_Silent_p.G472G	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	472			G -> R (in SDLT).		blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	CATTTGGCTTCCCAGCAACAT	0.468000													39	126					5.04308e-16	1.59899e-15	0.006230	1	0
ITPRIPL1	150771	broad.mit.edu	37	2	96992571	96992571	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr2:96992571C>G	ENST00000361124.4	+	1	637	c.226C>G	c.(226-228)Cag>Gag	p.Q76E	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.Q60E|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.Q60E|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.Q68E	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	68						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCCGCTGAGCAGAGGCAGAA	0.567000													4	51					0	0	0.000602	0	0
TTC12	54970	broad.mit.edu	37	11	113235556	113235556	+	Splice_Site	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr11:113235556G>C	ENST00000529221.1	+	21	1921		c.e21-1		TTC12_ENST00000314756.3_Splice_Site|TTC12_ENST00000393020.1_Intron|TTC12_ENST00000483239.2_Splice_Site	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12								binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TTTCCCTGCAGAGTTGAGCGT	0.547000													4	25					0	0	0.009096	0	0
METTL6	131965	broad.mit.edu	37	3	15466485	15466485	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr3:15466485G>A	ENST00000443029.1	-	3	577	c.337C>T	c.(337-339)Cca>Tca	p.P113S	METTL6_ENST00000383789.5_Missense_Mutation_p.P113S|METTL6_ENST00000450816.2_Intron|METTL6_ENST00000383790.3_Missense_Mutation_p.P113S			Q8TCB7	METL6_HUMAN	methyltransferase like 6	113							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						ATGGCTCTTGGAGAAAAATCA	0.383000													8	60					0	0	0.004482	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11859381	11859381	+	Silent	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr16:11859381G>A	ENST00000396516.2	-	13	1880	c.1683C>T	c.(1681-1683)ctC>ctT	p.L561L	ZC3H7A_ENST00000355758.4_Silent_p.L561L			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	561						nucleus	nucleic acid binding|zinc ion binding	p.L561L(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GATGCTCCTGGAGAAGTTTGA	0.443000													16	69					0	0	0.004990	0	0
HOXA7	3204	broad.mit.edu	37	7	27196019	27196019	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr7:27196019G>A	ENST00000242159.3	-	1	279	c.146C>T	c.(145-147)tCg>tTg	p.S49L		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	49					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						CGGAACGGTCGAGGCGAAGGC	0.647000													55	86					0	0	0.014410	0	0
GNAL	2774	broad.mit.edu	37	18	11752907	11752907	+	Silent	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr18:11752907C>T	ENST00000334049.6	+	2	1040	c.432C>T	c.(430-432)gtC>gtT	p.V144V	GNAL_ENST00000269162.5_Silent_p.V67V|GNAL_ENST00000423027.3_Silent_p.V67V|GNAL_ENST00000590972.1_3'UTR|GNAL_ENST00000535121.1_Silent_p.V67V	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	67					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TCCTGCACGTCAATGGGTTTA	0.463000													5	70					0	0	0.000602	0	0
DNMT3L	29947	broad.mit.edu	37	21	45670792	45670792	+	Silent	SNP	T	T	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr21:45670792T>C	ENST00000270172.3	-	10	1293	c.810A>G	c.(808-810)gcA>gcG	p.A270A	AP001059.5_ENST00000442785.1_RNA|DNMT3L_ENST00000418993.1_Silent_p.A270A	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	270					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GCTTGGGCCGTGCGTACTGCA	0.662000													8	32					0	0	0.003080	0	0
IBTK	25998	broad.mit.edu	37	6	82909958	82909958	+	Silent	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr6:82909958G>A	ENST00000306270.7	-	21	3474	c.2925C>T	c.(2923-2925)ttC>ttT	p.F975F	IBTK_ENST00000503631.1_Silent_p.F774F|IBTK_ENST00000510291.1_Silent_p.F975F	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	975					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TTGCTTTCTTGAACATAGTTT	0.348000													12	104					0	0	0.002450	0	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr17:37868208C>A	ENST00000406381.2	+	10	1349	c.839C>A	c.(838-840)tCc>tAc	p.S280Y	ERBB2_ENST00000584601.1_Missense_Mutation_p.S280Y|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34Y|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295Y|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280Y|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310Y|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280Y|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280Y|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310Y	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			14	300					4.36969e-10	1.36908e-09	0.001855	1	0
NEB	4703	broad.mit.edu	37	2	152470966	152470966	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr2:152470966C>G	ENST00000427231.2	-	77	11627	c.11425G>C	c.(11425-11427)Gag>Cag	p.E3809Q	NEB_ENST00000172853.10_Missense_Mutation_p.E3566Q|NEB_ENST00000604864.1_Missense_Mutation_p.E3809Q|NEB_ENST00000397345.3_Missense_Mutation_p.E3809Q|NEB_ENST00000409198.1_Missense_Mutation_p.E3566Q|NEB_ENST00000603639.1_Missense_Mutation_p.E3809Q	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	3809					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)		TTCCACTTCTCAAACTCCTTC	0.522000													103	154					0	0	0.014410	0	0
CYP4F3	4051	broad.mit.edu	37	19	15760759	15760759	+	Silent	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:15760759C>T	ENST00000221307.8	+	7	731	c.684C>T	c.(682-684)ctC>ctT	p.L228L	CYP4F3_ENST00000585846.1_Silent_p.L228L|CYP4F3_ENST00000591058.1_Silent_p.L228L|CYP4F3_ENST00000586182.2_Silent_p.L228L	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3						leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.L228L(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TCTTGGAGCTCAGTGCCCTTG	0.532000													22	117					0	0	0.002780	0	0
ELP5	23587	broad.mit.edu	37	17	7156274	7156274	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr17:7156274G>C	ENST00000574993.1	+	3	410	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000356683.2_Missense_Mutation_p.E65Q|ELP5_ENST00000396627.2_Missense_Mutation_p.E65Q|ELP5_ENST00000574255.1_Missense_Mutation_p.E65Q|ELP5_ENST00000354429.2_Missense_Mutation_p.E65Q|ELP5_ENST00000396628.2_Missense_Mutation_p.E65Q|ELP5_ENST00000573657.1_Missense_Mutation_p.E65Q					elongator acetyltransferase complex subunit 5																		TGAAGTGAGCGAGGAAGAGTT	0.458000													5	52					0	0	0.001168	0	0
CHD5	26038	broad.mit.edu	37	1	6202244	6202244	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:6202244C>T	ENST00000262450.3	-	15	2479	c.2380G>A	c.(2380-2382)Gag>Aag	p.E794K	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	794	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AAGGAAAACTCGTTCTCCCGA	0.572000													51	94					0	0	0.014410	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650121	75650121	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:75650121G>A	ENST00000361470.2	+	1	2076	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	600	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		p.E600*(4)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCAAGCCAAGGAGGCTGAGAT	0.502000													9	17					0	0	0.008291	0	0
TLN2	83660	broad.mit.edu	37	15	63097917	63097917	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr15:63097917A>G	ENST00000561311.1	+	50	6826	c.6596A>G	c.(6595-6597)cAg>cGg	p.Q2199R	TLN2_ENST00000306829.6_Missense_Mutation_p.Q2199R			Q9Y4G6	TLN2_HUMAN	talin 2	2199					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCATGTAGACAGGAGGACGTG	0.502000													10	34					0	0	0.013537	0	0
SLC16A10	117247	broad.mit.edu	37	6	111543275	111543275	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr6:111543275G>A	ENST00000368850.3	+	5	929	c.443G>A	c.(442-444)gGa>gAa	p.G148E	SLC16A10_ENST00000368851.5_Missense_Mutation_p.G462E			Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	462					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		CCCCTTATTGGAGGTGCTGTG	0.458000													8	84					0	0	0.006214	0	0
AXIN2	8313	broad.mit.edu	37	17	63554266	63554266	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr17:63554266C>G	ENST00000307078.5	-	2	786	c.473G>C	c.(472-474)aGa>aCa	p.R158T	AXIN2_ENST00000375702.5_Missense_Mutation_p.R158T|CTD-2535L24.2_ENST00000577662.1_3'UTR	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	158	RGS.				cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GATGCCATCTCTTATGTAGGT	0.463000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				16	92					0	0	0.004007	0	0
CERS4	79603	broad.mit.edu	37	19	8319426	8319426	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:8319426C>G	ENST00000558331.1	+	4	523	c.64C>G	c.(64-66)Cag>Gag	p.Q22E	CERS4_ENST00000559336.1_Missense_Mutation_p.Q73E|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559450.1_Missense_Mutation_p.Q73E|CERS4_ENST00000251363.5_Missense_Mutation_p.Q73E			Q9HA82	CERS4_HUMAN	ceramide synthase 4	73						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TGTGAGGGATCAGACCAGGAG	0.622000													4	14					0	0	0.000602	0	0
ZNF16	7564	broad.mit.edu	37	8	146171546	146171546	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr8:146171546G>C	ENST00000276816.4	-	3	233	c.47C>G	c.(46-48)tCa>tGa	p.S16*	ZNF16_ENST00000394909.2_Nonsense_Mutation_p.S16*	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCCTGGAACTGAGAGCTCCAT	0.612000													36	25					0	0	0.004289	0	0
CSMD1	64478	broad.mit.edu	37	8	2820893	2820893	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr8:2820893G>A	ENST00000602557.1	-	61	9863	c.9308C>T	c.(9307-9309)cCg>cTg	p.P3103L	CSMD1_ENST00000520002.1_Missense_Mutation_p.P3103L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2926L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2926L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P3102L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2925L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3103	Sushi 25.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTCTGCACCGGCGGCGGCTG	0.542000													10	180					0	0	0.013537	0	0
DNAJC4	3338	broad.mit.edu	37	11	64000337	64000337	+	Splice_Site	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr11:64000337G>A	ENST00000321685.3	+	5	992	c.527G>A	c.(526-528)aGg>aAg	p.R176K	RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000321460.5_Splice_Site_p.R177K|DNAJC4_ENST00000355040.4_Intron|RP11-783K16.14_ENST00000534988.1_RNA	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	176					protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding			endometrium(1)|lung(1)|prostate(1)	3						ATTGCCTTCAGGTGATGCCTG	0.602000													28	22					0	0	0.009535	0	0
CUL3	8452	broad.mit.edu	37	2	225343033	225343033	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr2:225343033C>G	ENST00000264414.4	-	15	2397	c.2059G>C	c.(2059-2061)Gag>Cag	p.E687Q	CUL3_ENST00000409096.1_Missense_Mutation_p.E663Q|CUL3_ENST00000409777.1_Missense_Mutation_p.E663Q|CUL3_ENST00000344951.4_Missense_Mutation_p.E621Q	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	687					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCTTTCCTCTCTGGGTCGGAT	0.338000													4	71					0	0	0.009096	0	0
ITIH5	80760	broad.mit.edu	37	10	7618424	7618424	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr10:7618424G>A	ENST00000256861.6	-	10	2048	c.1970C>T	c.(1969-1971)aCg>aTg	p.T657M	ITIH5_ENST00000397145.2_Missense_Mutation_p.T657M|ITIH5_ENST00000446830.2_Missense_Mutation_p.T439M|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.T657M|ITIH5_ENST00000298441.6_Missense_Mutation_p.T443M	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	657					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ACCTGGCTGCGTGCCAGCTCC	0.682000													14	12					0	0	0.002450	0	0
ANK1	286	broad.mit.edu	37	8	41550342	41550342	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr8:41550342G>C	ENST00000396942.1	-	31	3765	c.3682C>G	c.(3682-3684)Ctg>Gtg	p.L1228V	ANK1_ENST00000379758.2_Missense_Mutation_p.L1228V|ANK1_ENST00000265709.8_Missense_Mutation_p.L1269V|ANK1_ENST00000352337.4_Missense_Mutation_p.L1228V|ANK1_ENST00000289734.7_Missense_Mutation_p.L1228V|ANK1_ENST00000347528.4_Missense_Mutation_p.L1228V|ANK1_ENST00000396945.1_Missense_Mutation_p.L1228V			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1228					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTGTACAGCAGGGTGGCAAAG	0.542000													19	286					0	0	0.008871	0	0
NUP210L	91181	broad.mit.edu	37	1	154090258	154090258	+	Silent	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:154090258C>T	ENST00000368559.3	-	12	1634	c.1563G>A	c.(1561-1563)ggG>ggA	p.G521G	NUP210L_ENST00000271854.3_Silent_p.G521G	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	521						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CAGTACTATTCCCCCTGACCT	0.448000													11	120					0	0	0.010729	0	0
PRKG2	5593	broad.mit.edu	37	4	82010927	82010927	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr4:82010927C>G	ENST00000395578.1	-	19	2340	c.2224G>C	c.(2224-2226)Gac>Cac	p.D742H	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_Missense_Mutation_p.D322H|PRKG2_ENST00000418486.2_Missense_Mutation_p.D713H|PRKG2_ENST00000264399.1_Missense_Mutation_p.D742H			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	742	AGC-kinase C-terminal.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GGATATTTGTCAAAGTAGCTG	0.388000													25	25					0	0	0.006320	0	0
ATRX	546	broad.mit.edu	37	X	76938032	76938032	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:76938032C>T	ENST00000373344.5	-	9	2930	c.2716G>A	c.(2716-2718)Gat>Aat	p.D906N	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.D868N	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	906					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GGAAGTCGATCTCTTAATTCC	0.413000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						35	212					0	0	0.003271	0	0
CPN1	1369	broad.mit.edu	37	10	101825069	101825069	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr10:101825069G>A	ENST00000370418.3	-	4	886	c.635C>T	c.(634-636)tCa>tTa	p.S212L		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	212	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GAGATTGGCTGAAAGAACAAA	0.647000													4	35					0	0	0.009096	0	0
SSFA2	6744	broad.mit.edu	37	2	182786990	182786990	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr2:182786990G>C	ENST00000431877.2	+	16	3705	c.3526G>C	c.(3526-3528)Gag>Cag	p.E1176Q	SSFA2_ENST00000409136.1_Missense_Mutation_p.E685Q|SSFA2_ENST00000320370.7_Missense_Mutation_p.E1176Q|SSFA2_ENST00000428267.2_Missense_Mutation_p.E1001Q|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000409001.1_Missense_Mutation_p.E1154Q	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1176						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GGAAAGTTCTGAGGAAGTTGA	0.507000													12	77					0	0	0.001855	0	0
ANXA9	8416	broad.mit.edu	37	1	150967160	150967160	+	Silent	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:150967160C>T	ENST00000368947.4	+	13	1436	c.960C>T	c.(958-960)ctC>ctT	p.L320L		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	320					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAAGTCCCTCTACTCTTCTC	0.502000													42	94					0	0	0.009718	0	0
CHST14	113189	broad.mit.edu	37	15	40764358	40764358	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr15:40764358C>T	ENST00000306243.5	+	1	1199	c.946C>T	c.(946-948)Cca>Tca	p.P316S	CHST14_ENST00000559991.1_Missense_Mutation_p.P291S	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	316					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GGTACGGGCACCACCTCACGT	0.627000													31	68					0	0	0.009535	0	0
TAS2R9	50835	broad.mit.edu	37	12	10961883	10961883	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr12:10961883C>G	ENST00000240691.2	-	1	884	c.792G>C	c.(790-792)ttG>ttC	p.L264F		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	264					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						CACCAATCATCAACACTAATT	0.398000													30	37					0	0	0.009535	0	0
ADAM23	8745	broad.mit.edu	37	2	207345997	207345997	+	Silent	SNP	C	C	T	rs141683172		TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr2:207345997C>T	ENST00000264377.3	+	3	802	c.474C>T	c.(472-474)ttC>ttT	p.F158F	ADAM23_ENST00000374416.1_Silent_p.F158F|ADAM23_ENST00000374415.3_Silent_p.F158F	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	158					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTGAAGCCTTCGGCTCCAAAT	0.383000													5	36					0	0	0.001984	0	0
AMOT	154796	broad.mit.edu	37	X	112054509	112054509	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:112054509C>T	ENST00000371959.3	-	3	1504	c.1505G>A	c.(1504-1506)cGg>cAg	p.R502Q	AMOT_ENST00000371958.1_Missense_Mutation_p.R270Q|AMOT_ENST00000524145.1_Missense_Mutation_p.R502Q|AMOT_ENST00000304758.1_Missense_Mutation_p.R93Q|AMOT_ENST00000371962.1_Missense_Mutation_p.R270Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	502					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						ATGCATCCTCCGAATCTCGCC	0.517000													64	145					0	0	0.014410	0	0
EXOC6B	23233	broad.mit.edu	37	2	72802653	72802653	+	Silent	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr2:72802653G>A	ENST00000272427.6	-	7	944	c.814C>T	c.(814-816)Ctg>Ttg	p.L272L	EXOC6B_ENST00000410104.1_Silent_p.L272L	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	272					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TCAACATCCAGAATTCCTGAA	0.358000													6	45					0	0	0.001168	0	0
ANKS1A	23294	broad.mit.edu	37	6	34953014	34953014	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr6:34953014G>A	ENST00000360359.3	+	8	1306	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	390						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CACGAACAAGGAGGCTGAGGC	0.592000													8	76					0	0	0.004482	0	0
NEDD4L	23327	broad.mit.edu	37	18	56018254	56018254	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr18:56018254G>A	ENST00000456986.1	+	18	1922	c.1322G>A	c.(1321-1323)gGc>gAc	p.G441D	NEDD4L_ENST00000356462.6_Missense_Mutation_p.G498D|NEDD4L_ENST00000435432.2_Missense_Mutation_p.G421D|NEDD4L_ENST00000400345.3_Missense_Mutation_p.G562D|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000456173.2_Missense_Mutation_p.G421D|NEDD4L_ENST00000357895.5_Missense_Mutation_p.G554D|NEDD4L_ENST00000256830.9_Missense_Mutation_p.G458D|NEDD4L_ENST00000431212.2_Missense_Mutation_p.G441D|NEDD4L_ENST00000382850.4_Missense_Mutation_p.G542D|NEDD4L_ENST00000256832.7_Missense_Mutation_p.G421D|NEDD4L_ENST00000586263.1_Missense_Mutation_p.G534D	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	562					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CACTTGGATGGCCGAACGTTT	0.423000													3	3					0	0	0.004672	0	0
C1orf172	126695	broad.mit.edu	37	1	27278098	27278098	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:27278098C>G	ENST00000320567.5	-	2	862	c.774G>C	c.(772-774)gaG>gaC	p.E258D		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	258										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		ACTTGGCCAGCTCATCGATCT	0.537000													6	29					0	0	0.001984	0	0
FAM35A	54537	broad.mit.edu	37	10	88939920	88939920	+	Silent	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr10:88939920G>A	ENST00000298786.4	+	8	2373	c.2259G>A	c.(2257-2259)ctG>ctA	p.L753L	FAM35A_ENST00000298784.1_Silent_p.L684L			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	684										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						ACAGTTCTCTGAAGAGTATTT	0.388000													8	73					0	0	0.006214	0	0
ADAD1	132612	broad.mit.edu	37	4	123332470	123332470	+	Silent	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr4:123332470C>G	ENST00000296513.2	+	9	1127	c.942C>G	c.(940-942)ctC>ctG	p.L314L	ADAD1_ENST00000388725.2_Silent_p.L296L|ADAD1_ENST00000388724.2_Silent_p.L303L	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	314	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTAATCTACTCACTCTTAAAC	0.328000													4	41					0	0	0.009096	0	0
ABCD4	5826	broad.mit.edu	37	14	74753514	74753514	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr14:74753514C>G	ENST00000356924.4	-	18	1785	c.1642G>C	c.(1642-1644)Gat>Cat	p.D548H	ABCD4_ENST00000298816.7_Missense_Mutation_p.D444H	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	548	ABC transporter.					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)		GTGGCTTCATCAAGCACTGAG	0.612000													3	27					0	0	0.004672	0	0
TCEAL8	90843	broad.mit.edu	37	X	102508574	102508574	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:102508574G>C	ENST00000372685.3	-	3	570	c.334C>G	c.(334-336)Cct>Gct	p.P112A	TCEAL8_ENST00000360000.4_Missense_Mutation_p.P112A	NM_153333.2	NP_699164.1	Q8IYN2	TCAL8_HUMAN	transcription elongation factor A (SII)-like 8	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|lung(1)|ovary(1)	4						aagcacacaggataaggacgg	0.393000													4	85					0	0	0.009096	0	0
TCF20	6942	broad.mit.edu	37	22	42609223	42609223	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr22:42609223C>A	ENST00000359486.3	-	1	2225	c.2089G>T	c.(2089-2091)Gag>Tag	p.E697*	TCF20_ENST00000335626.4_Nonsense_Mutation_p.E697*	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	697					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTGCTAGGCTCAGTTCTGCTC	0.498000													21	94					8.04996e-18	2.56003e-17	0.012319	1	0
DNAJC11	55735	broad.mit.edu	37	1	6761824	6761824	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:6761824C>T	ENST00000377577.5	-	1	160	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	DNAJC11_ENST00000294401.7_Missense_Mutation_p.E13K|DNAJC11_ENST00000377573.5_5'UTR	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	13					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TAATAGTCTTCATTGTCCAGC	0.657000													6	7					0	0	0.001984	0	0
CACNA1E	777	broad.mit.edu	37	1	181732601	181732601	+	Silent	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:181732601C>T	ENST00000526775.1	+	33	4857	c.4692C>T	c.(4690-4692)ctC>ctT	p.L1564L	CACNA1E_ENST00000367573.2_Silent_p.L1583L|CACNA1E_ENST00000367567.4_Silent_p.L1190L|CACNA1E_ENST00000357570.5_Silent_p.L1534L|CACNA1E_ENST00000367570.1_Silent_p.L1583L|CACNA1E_ENST00000358338.5_Silent_p.L1515L|CACNA1E_ENST00000360108.3_Silent_p.L1564L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1583					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTGCCCGCCTCATAAAGCTCC	0.478000													12	60					0	0	0.013537	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													4	64					0	0	0.000602	0	0
CACHD1	57685	broad.mit.edu	37	1	65139035	65139035	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:65139035C>T	ENST00000371073.2	+	19	2615	c.2615C>T	c.(2614-2616)cCc>cTc	p.P872L	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.P821L			Q5VU97	CAHD1_HUMAN	cache domain containing 1	872					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGGTAGGAGCCCCTGGTAGCA	0.458000													32	86					0	0	0.012213	0	0
ZNF468	90333	broad.mit.edu	37	19	53344845	53344845	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:53344845C>G	ENST00000595646.1	-	4	822	c.702G>C	c.(700-702)caG>caC	p.Q234H	ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.Q181H|ZNF468_ENST00000396409.4_Missense_Mutation_p.Q181H			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		AGTGAATTATCTGATGTTTTT	0.363000													38	42					0	0	0.004878	0	0
S1PR4	8698	broad.mit.edu	37	19	3179881	3179881	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:3179881C>T	ENST00000246115.3	+	1	1146	c.1091C>T	c.(1090-1092)tCc>tTc	p.S364F		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	364					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						TTTCGCGGCTCCCGCTCGCTC	0.672000													14	102					0	0	0.003163	0	0
OLAH	55301	broad.mit.edu	37	10	15115139	15115139	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr10:15115139C>G	ENST00000378217.3	+	9	1055	c.868C>G	c.(868-870)Cac>Gac	p.H290D	OLAH_ENST00000485251.1_3'UTR|OLAH_ENST00000378228.3_Missense_Mutation_p.H237D	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	237					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TCCAGGGGGTCACTTTTATCT	0.353000													32	44					0	0	0.012213	0	0
LCP2	3937	broad.mit.edu	37	5	169675741	169675741	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr5:169675741C>T	ENST00000046794.5	-	21	2177	c.1562G>A	c.(1561-1563)aGa>aAa	p.R521K	LCP2_ENST00000521416.1_Missense_Mutation_p.R316K|C5orf58_ENST00000517575.1_Intron	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	521	SH2.				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GCACTGGTATCTGGAACCTCG	0.458000													18	164					0	0	0.006122	0	0
WDR66	144406	broad.mit.edu	37	12	122396869	122396869	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr12:122396869T>G	ENST00000288912.4	+	13	2856	c.2002T>G	c.(2002-2004)Ttt>Gtt	p.F668V	WDR66_ENST00000397454.2_Missense_Mutation_p.F668V	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	668							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TGGAGCTGGCTTTACAGAGGG	0.423000													9	48					0	0	0.004482	0	0
CHST1	8534	broad.mit.edu	37	11	45672447	45672447	+	Silent	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr11:45672447G>C	ENST00000308064.2	-	4	697	c.27C>G	c.(25-27)ctC>ctG	p.L9L		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	9					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGGCAAGGAGGAGGACGGCCT	0.657000													10	14					0	0	0.008291	0	0
C9orf3	84909	broad.mit.edu	37	9	97522387	97522387	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr9:97522387G>C	ENST00000375315.2	+	1	322	c.322G>C	c.(322-324)Gat>Cat	p.D108H	C9orf3_ENST00000277198.2_Missense_Mutation_p.D108H|C9orf3_ENST00000297979.5_Missense_Mutation_p.D108H	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	108					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AGGTGAAAAAGATACTTCTGA	0.423000													5	143					0	0	0.000602	0	0
PDZD7	79955	broad.mit.edu	37	10	102781615	102781615	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr10:102781615G>C	ENST00000370215.3	-	6	1032	c.807C>G	c.(805-807)atC>atG	p.I269M		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	269	PDZ 2.					cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GGCTGTGGCTGATGTCGTCAA	0.612000													5	98					0	0	0.000602	0	0
PUM1	9698	broad.mit.edu	37	1	31437662	31437662	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:31437662C>T	ENST00000373747.3	-	14	2284	c.2185G>A	c.(2185-2187)Gga>Aga	p.G729R	PUM1_ENST00000257075.5_Missense_Mutation_p.G728R|PUM1_ENST00000373742.2_Missense_Mutation_p.G669R|PUM1_ENST00000426105.2_Missense_Mutation_p.G728R|PUM1_ENST00000440538.2_Missense_Mutation_p.G702R|PUM1_ENST00000423018.2_Missense_Mutation_p.G584R|PUM1_ENST00000424085.2_Missense_Mutation_p.G486R|PUM1_ENST00000373741.4_Missense_Mutation_p.G764R	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	728	Ser-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AAACTGTGTCCAATGGGGGTC	0.547000													9	95					0	0	0.006214	0	0
METTL3	56339	broad.mit.edu	37	14	21967257	21967257	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr14:21967257C>A	ENST00000298717.4	-	10	1694	c.1543G>T	c.(1543-1545)Gat>Tat	p.D515Y	TOX4_ENST00000405508.1_3'UTR|TOX4_ENST00000262709.3_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	515					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TAGATTTCATCTGGTTTATGA	0.393000													9	61					1.76689e-08	5.48721e-08	0.006214	1	0
C9orf3	84909	broad.mit.edu	37	9	97522479	97522479	+	Silent	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr9:97522479G>C	ENST00000375315.2	+	1	414	c.414G>C	c.(412-414)ggG>ggC	p.G138G	C9orf3_ENST00000277198.2_Silent_p.G138G|C9orf3_ENST00000297979.5_Silent_p.G138G	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	138					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GGAATCATGGGAGTGAGGATT	0.423000													10	205					0	0	0.006214	0	0
MLH1	4292	broad.mit.edu	37	3	37035095	37035095	+	Silent	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr3:37035095C>T	ENST00000231790.2	+	1	273	c.57C>T	c.(55-57)atC>atT	p.I19I		NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	19			I -> F (in HNPCC2; uncertain pathogenicity).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGAACCGCATCGCGGCGGGGG	0.567000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				10	78					0	0	0.013537	0	0
PACS1	55690	broad.mit.edu	37	11	65988244	65988244	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr11:65988244C>T	ENST00000320580.4	+	9	1214	c.1181C>T	c.(1180-1182)aCg>aTg	p.T394M		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	394					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						ATCCTCAGCACGCCAAAGCCC	0.572000													11	17					0	0	0.010729	0	0
TRAF4	9618	broad.mit.edu	37	17	27071271	27071271	+	Silent	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr17:27071271C>G	ENST00000262395.5	+	1	270	c.141C>G	c.(139-141)ctC>ctG	p.L47L	TRAF4_ENST00000262396.6_Silent_p.L47L|TRAF4_ENST00000444415.3_Silent_p.L47L	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	47					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			AGGAGTTCCTCAGGTGCTGGC	0.736000													9	13					0	0	0.004482	0	0
SP140	11262	broad.mit.edu	37	2	231174750	231174750	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr2:231174750G>T	ENST00000392045.3	+	23	2284	c.2170G>T	c.(2170-2172)Gag>Tag	p.E724*	SP140_ENST00000343805.6_Nonsense_Mutation_p.E664*|SP140_ENST00000420434.3_Nonsense_Mutation_p.E697*|SP140_ENST00000486687.2_Nonsense_Mutation_p.E648*|SP140_ENST00000350136.5_Nonsense_Mutation_p.E593*|SP140_ENST00000417495.3_Nonsense_Mutation_p.E610*	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	724					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGTGGAAGCTGAGAGGTAAGT	0.552000													7	38					5.18039e-06	1.59015e-05	0.003080	1	0
DNAI2	64446	broad.mit.edu	37	17	72287268	72287268	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr17:72287268G>C	ENST00000579490.1	+	5	1026	c.891G>C	c.(889-891)caG>caC	p.Q297H	DNAI2_ENST00000311014.6_Missense_Mutation_p.Q240H|DNAI2_ENST00000446837.2_Missense_Mutation_p.Q240H|DNAI2_ENST00000307504.5_Missense_Mutation_p.Q97H|DNAI2_ENST00000582036.1_Missense_Mutation_p.Q240H			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	240					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ACAATGGACAGATAGGTAAGG	0.438000									Kartagener syndrome				17	242					0	0	0.004007	0	0
CELF2	10659	broad.mit.edu	37	10	11356183	11356183	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr10:11356183G>T	ENST00000379261.4	+	10	1129	c.1037G>T	c.(1036-1038)gGa>gTa	p.G346V	CELF2_ENST00000537122.1_Missense_Mutation_p.G235V|CELF2_ENST00000354897.3_Missense_Mutation_p.G322V|CELF2_ENST00000609692.1_Missense_Mutation_p.G322V|CELF2_ENST00000417956.2_Missense_Mutation_p.G322V|CELF2_ENST00000315874.4_Missense_Mutation_p.G322V|CELF2_ENST00000354440.2_Missense_Mutation_p.G322V|CELF2_ENST00000399850.3_Missense_Mutation_p.G322V|CELF2_ENST00000427450.1_Missense_Mutation_p.G322V|CELF2_ENST00000542579.1_Missense_Mutation_p.G353V|CELF2_ENST00000416382.2_Missense_Mutation_p.G346V|CELF2_ENST00000450189.1_Missense_Mutation_p.G353V|CELF2_ENST00000608830.1_Missense_Mutation_p.G322V	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	346	Ala-rich.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GGACTGGCTGGAGCCACTGTT	0.502000													41	79					1.07121e-22	3.42722e-22	0.006999	1	0
ADCY2	108	broad.mit.edu	37	5	7784499	7784499	+	Silent	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr5:7784499G>A	ENST00000338316.4	+	19	2495	c.2406G>A	c.(2404-2406)ctG>ctA	p.L802L	ADCY2_ENST00000537121.1_Silent_p.L622L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	802					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGAAAGACCTGAAGACCATGG	0.378000													15	168					0	0	0.006122	0	0
ENTHD2	146705	broad.mit.edu	37	17	79205452	79205452	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr17:79205452C>G	ENST00000374769.2	-	10	966	c.489G>C	c.(487-489)ttG>ttC	p.L163F	AC027601.1_ENST00000575922.1_RNA|AC027601.1_ENST00000569559.1_RNA|ENTHD2_ENST00000300714.3_Missense_Mutation_p.L247F					ENTH domain containing 2																		TCACCAAGCTCAACTCCTGCT	0.662000													13	18					0	0	0.013537	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420386	55420386	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr12:55420386G>A	ENST00000242994.3	+	2	541	c.163G>A	c.(163-165)Gag>Aag	p.E55K		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	55	Asp/Glu-rich (acidic).				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TGACAGTATTgaggaagaaga	0.483000													5	21					0	0	0.001168	0	0
SATB2	23314	broad.mit.edu	37	2	200137140	200137140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr2:200137140G>A	ENST00000443023.1	-	10	3284	c.1819C>T	c.(1819-1821)Cag>Tag	p.Q607*	SATB2_ENST00000457245.1_Nonsense_Mutation_p.Q666*|SATB2_ENST00000417098.1_Nonsense_Mutation_p.Q666*|SATB2_ENST00000428695.1_Nonsense_Mutation_p.Q548*|SATB2_ENST00000260926.5_Nonsense_Mutation_p.Q666*			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	666						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGGTACCGCTGGTTCTGGAAG	0.552000													13	60					0	0	0.013537	0	0
LRRC24	441381	broad.mit.edu	37	8	145749638	145749638	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr8:145749638C>T	ENST00000529415.2	-	4	580	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	LRRC14_ENST00000292524.1_3'UTR|LRRC14_ENST00000528528.1_Intron|LRRC24_ENST00000533758.1_Missense_Mutation_p.E152K			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	155						integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ATGCTGTTTTCTTGCAGGTGA	0.577000													4	90					0	0	0.009096	0	0
DOCK2	1794	broad.mit.edu	37	5	169096311	169096311	+	Silent	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr5:169096311C>G	ENST00000256935.8	+	3	227	c.147C>G	c.(145-147)ctC>ctG	p.L49L		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	49	SH3.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGGATACCTCATAAAGCACA	0.393000													16	115					0	0	0.007413	0	0
DNAH7	56171	broad.mit.edu	37	2	196892748	196892748	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr2:196892748G>A	ENST00000312428.6	-	6	522	c.422C>T	c.(421-423)tCa>tTa	p.S141L	DNAH7_ENST00000410072.1_Missense_Mutation_p.S141L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	141	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						AGGGACAGCTGAGTCTAAGTC	0.378000													13	96					0	0	0.001855	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303825	151303825	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:151303825C>T	ENST00000370323.4	-	4	584	c.268G>A	c.(268-270)Gcc>Acc	p.A90T	MAGEA10_ENST00000244096.3_Missense_Mutation_p.A90T|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	90										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGAGCAGGCTATCTGAGCA	0.547000													6	221					0	0	0.001168	0	0
STAC2	342667	broad.mit.edu	37	17	37369804	37369804	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr17:37369804C>T	ENST00000333461.5	-	9	1318	c.949G>A	c.(949-951)Gat>Aat	p.D317N		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	317	SH3.				intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						ATGATCCGATCTCCAGGCCTG	0.627000													6	52					0	0	0.001984	0	0
ZNF462	58499	broad.mit.edu	37	9	109689515	109689515	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr9:109689515G>T	ENST00000277225.5	+	3	3611	c.3322G>T	c.(3322-3324)Gac>Tac	p.D1108Y	ZNF462_ENST00000457913.1_Missense_Mutation_p.D1108Y			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1108					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCCGCCACCAGACCTCAGTAC	0.512000													4	44					0.00024832	0.000753498	0.009096	1	0
PKP3	11187	broad.mit.edu	37	11	403947	403947	+	Silent	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr11:403947G>A	ENST00000331563.2	+	11	2158	c.2082G>A	c.(2080-2082)acG>acA	p.T694T		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	694					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCACAGCCACGAAGGTGGTGA	0.672000													5	25					0	0	0.000602	0	0
GNA14	9630	broad.mit.edu	37	9	80038930	80038930	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr9:80038930G>C	ENST00000341700.6	-	7	1546	c.1033C>G	c.(1033-1035)Cta>Gta	p.L345V		NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	345					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TTTAGCTGTAGAATTGTGTCT	0.403000													4	89					0	0	0.000602	0	0
SMG1	23049	broad.mit.edu	37	16	18839369	18839369	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr16:18839369G>A	ENST00000446231.2	-	55	10137	c.9725C>T	c.(9724-9726)tCt>tTt	p.S3242F	SMG1_ENST00000389467.3_Missense_Mutation_p.S3243F			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3242					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGTTGCAATAGAAGTTTCAAT	0.428000													5	11					0	0	0.000602	0	0
SLC52A1	55065	broad.mit.edu	37	17	4937052	4937052	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr17:4937052C>G	ENST00000512825.2	-	3	2143	c.732G>C	c.(730-732)gaG>gaC	p.E244D	SLC52A1_ENST00000424747.1_Missense_Mutation_p.E244D|SLC52A1_ENST00000254853.5_Missense_Mutation_p.E244D			Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	244	Poly-Glu.					integral to plasma membrane	receptor activity|riboflavin transporter activity										CTTCCTCCTTCTCTTCCTCCT	0.612000													3	46					0	0	0.004672	0	0
HHIPL1	84439	broad.mit.edu	37	14	100134572	100134572	+	Silent	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr14:100134572C>T	ENST00000330710.5	+	7	1760	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	HHIPL1_ENST00000357223.2_Silent_p.F554F	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	554					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				AGCTGTACTTCATGTCGACAG	0.602000													6	72					0	0	0.001168	0	0
TRPS1	7227	broad.mit.edu	37	8	116599536	116599536	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr8:116599536A>T	ENST00000395715.3	-	5	2969	c.2392T>A	c.(2392-2394)Tcc>Acc	p.S798T	TRPS1_ENST00000519076.1_Missense_Mutation_p.S539T|TRPS1_ENST00000519674.1_Missense_Mutation_p.S785T|TRPS1_ENST00000520276.1_Missense_Mutation_p.S789T|TRPS1_ENST00000220888.5_Missense_Mutation_p.S785T	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	785	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCATCACTGGAACTCTCGGTC	0.547000									Langer-Giedion syndrome				92	319					0	0	0.014410	0	0
PPT1	5538	broad.mit.edu	37	1	40562864	40562864	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:40562864G>A	ENST00000433473.3	-	1	511	c.47C>T	c.(46-48)cCa>cTa	p.P16L	PPT1_ENST00000449045.2_Missense_Mutation_p.P16L	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	16					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCAGGTCCATGGCAGGAGAGC	0.657000													20	102					0	0	0.008871	0	0
ZMYM4	9202	broad.mit.edu	37	1	35824558	35824558	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:35824558G>C	ENST00000314607.6	+	3	198	c.118G>C	c.(118-120)Gat>Cat	p.D40H	ZMYM4-AS1_ENST00000432683.1_RNA|ZMYM4_ENST00000373297.2_Missense_Mutation_p.D40H	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	40					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATGTCTGAAGATATAGACCA	0.358000													6	64					0	0	0.001168	0	0
RHOA	387	broad.mit.edu	37	3	49399983	49399983	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr3:49399983C>G	ENST00000418115.1	-	4	738	c.354G>C	c.(352-354)aaG>aaC	p.K118N	RHOA_ENST00000422781.1_Missense_Mutation_p.K118N|RHOA_ENST00000454011.2_Missense_Mutation_p.R78T	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	118					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	GAAGATCCTTCTTATTCCCAA	0.468000													13	117					0	0	0.013537	0	0
GLUD2	2747	broad.mit.edu	37	X	120183010	120183010	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:120183010C>T	ENST00000328078.1	+	1	1549	c.1472C>T	c.(1471-1473)gCa>gTa	p.A491V		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	491					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GTACCCACGGCAGAGTTCCAA	0.443000													12	81					0	0	0.013537	0	0
MYADM	91663	broad.mit.edu	37	19	54376871	54376871	+	Missense_Mutation	SNP	C	C	T	rs150547635	byFrequency	TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:54376871C>T	ENST00000391769.2	+	3	368	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	MYADM_ENST00000391768.2_Missense_Mutation_p.R30W|MYADM_ENST00000391770.4_Missense_Mutation_p.R30W|MYADM_ENST00000336967.3_Missense_Mutation_p.R30W|MYADM_ENST00000391771.1_Missense_Mutation_p.R30W	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	30						integral to membrane		p.R30W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GGGGTCCCCTCGGGCCCTGAC	0.662000											OREG0003650	type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	38					0	0	0.000602	0	0
LOC100287934	100287934	broad.mit.edu	37	1	745371	745371	+	RNA	DEL	A	A	-	rs146246821		TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:745371delA	ENST00000447500.1	-	0	95																											TTTATTTCATAAGATAGCATT	0.299													2	4	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				7	97	---	---	---	---					
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCTGCT	rs58327065		TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr1:154842199_154842200insGCTGCT	ENST00000271915.4	-	1	556_557	c.241_242insAGCAGC	c.(241-243)cca>cAGCAGCca	p.80_81insQQ		NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3		Poly-Gln.					integral to membrane	calmodulin binding	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGGATGCGGTGgctgctgctgc	0.698													6	12	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													5	7	---	---	---	---					
PHOX2B	8929	broad.mit.edu	37	4	41747993	41748013	+	In_Frame_Del	DEL	GCCGCCGCTGCCGCTGCCGCC	GCCGCCGCTGCCGCTGCCGCC	-	rs17884724		TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr4:41747993_41748013delGCCGCCGCTGCCGCTGCCGCC	ENST00000226382.2	-	3	1115_1135	c.756_776delGGCGGCAGCGGCAGCGGCGGC	c.(754-777)gcggcggcagcggcagcggcggca>gca	p.252_259AAAAAAAA>A		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	252	Poly-Ala.				positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GCCTCCAgctgccgccgctgccgctgccgccgccgccgctg	0.819			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				5	5	---	---	---	---					
RAG1	5896	broad.mit.edu	37	11	36597187	36597187	+	Frame_Shift_Del	DEL	G	G	-	rs121918569		TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr11:36597187delG	ENST00000299440.5	+	2	2445	c.2333delG	c.(2332-2334)cggfs	p.R778fs		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	778			R -> Q (in CHIDG; reduced recombination activity).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CTGCGGGATCGGGTGAAAGGG	0.493									Familial Hemophagocytic Lymphohistiocytosis				28	29	---	---	---	---					
EDNRB	1910	broad.mit.edu	37	13	78492443	78492443	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr13:78492443delG	ENST00000377211.4	-	2	688	c.536delC	c.(535-537)ccgfs	p.P179fs	EDNRB_ENST00000446573.1_Frame_Shift_Del_p.P89fs|EDNRB_ENST00000334286.5_Frame_Shift_Del_p.P89fs	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	89					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	TCCTTGGCACGGGGGAGGGGA	0.587													40	50	---	---	---	---					
PRKCH	5583	broad.mit.edu	37	14	61924268	61924283	+	Frame_Shift_Del	DEL	GAAGGTGCTGAAGAAG	GAAGGTGCTGAAGAAG	-			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr14:61924268_61924283delGAAGGTGCTGAAGAAG	ENST00000332981.5	+	9	1534_1549	c.1149_1164delGAAGGTGCTGAAGAAG	c.(1147-1164)gtgaaggtgctgaagaagfs	p.VKVLKK383fs	PRKCH_ENST00000555082.1_Frame_Shift_Del_p.VKVLKK222fs	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	383	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TCTATGCTGTGAAGGTGCTGAAGAAGGACGTGATTC	0.509													32	86	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372914	74372914	+	RNA	DEL	G	G	-	rs67181940		TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr16:74372914delG	ENST00000429810.2	-	0	1404																											AACGTAGtttgtttttttttt	0.433													2	4	---	---	---	---					
NOTCH3	4854	broad.mit.edu	37	19	15271897	15271897	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr19:15271897delG	ENST00000263388.2	-	33	6617	c.6542delC	c.(6541-6543)ccafs	p.P2181fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2181					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGAGGGGCCTGGAGGGGCAGG	0.726													2	4	---	---	---	---					
ID1	3397	broad.mit.edu	37	20	30193289	30193290	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr20:30193289_30193290insT	ENST00000376105.3	+	1	198_199	c.99_100insT	c.(100-102)tgtfs	p.C34fs	ID1_ENST00000376112.3_Frame_Shift_Ins_p.C34fs	NM_181353.2	NP_851998.1	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	34					angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			AGGTGGTGCGCTGTCTGTCTGA	0.723													10	17	---	---	---	---					
IGLC2	3538	broad.mit.edu	37	22	23243505	23243506	+	RNA	INS	-	-	ACT			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr22:23243505_23243506insACT	ENST00000390323.2	+	0	350_351																											CACCACGGGAGACTAGAGCTGC	0.559													3	6	---	---	---	---					
SERHL	94009	broad.mit.edu	37	22	42898665	42898666	+	RNA	INS	-	-	C			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chr22:42898665_42898666insC	ENST00000359906.2	+	0	409					NR_027786.1				serine hydrolase-like											endometrium(1)|large_intestine(1)	2						CCCATATGGTGCCCCCCCCCCA	0.589													3	5	---	---	---	---					
CACNA1F	778	broad.mit.edu	37	X	49084773	49084775	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-KQ-A41S-01A-12D-A339-08	TCGA-KQ-A41S-10C-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfb0a2bf-afed-4fec-bbfb-4fdd20255879	7e646cce-f8f3-4181-860a-8788de1b6c06	g.chrX:49084773_49084775delGAA	ENST00000376265.2	-	7	1013_1015	c.952_954delTTC	c.(952-954)ttcdel	p.F318del	CACNA1F_ENST00000376251.1_In_Frame_Del_p.F253del|CACNA1F_ENST00000323022.5_In_Frame_Del_p.F318del	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	318					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.F318F(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TCAGCATGGCGAAGAAGAAGTTG	0.596													9	26	---	---	---	---					
