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
AKR1C3	8644	broad.mit.edu	37	10	5138718	5138718	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr10:5138718C>G	ENST00000380554.3	+	2	853	c.201C>G	c.(199-201)agC>agG	p.S67R	AKR1C3_ENST00000605149.1_Missense_Mutation_p.S44R|AKR1C3_ENST00000439082.2_5'UTR|AKR1C3_ENST00000470862.2_3'UTR	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	67					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.S67R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	CCATCCGAAGCAAGATTGCAG	0.413000													21	81					0	0	0.003954	0	0
C5orf58	133874	broad.mit.edu	37	5	169661199	169661199	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr5:169661199A>C	ENST00000521850.1	+	1	1749	c.60A>C	c.(58-60)ttA>ttC	p.L20F	C5orf58_ENST00000517575.1_Intron|C5orf58_ENST00000593851.1_Missense_Mutation_p.L20F			C9J3I9	CE058_HUMAN	chromosome 5 open reading frame 58	20								p.L20F(1)		large_intestine(1)|lung(4)|urinary_tract(1)	6						GGATTGACTTAAAGGTTAGTT	0.398000													24	45					0	0	0.003954	0	0
OR7D2	162998	broad.mit.edu	37	19	9296806	9296806	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr19:9296806G>A	ENST00000344248.2	+	1	528	c.349G>A	c.(349-351)Gtg>Atg	p.V117M		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	117					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V117M(1)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						ACTCCTGACCGTGATGGCCTA	0.512000													18	194					0	0	0.006122	0	0
EIF2B4	8890	broad.mit.edu	37	2	27587635	27587635	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr2:27587635T>C	ENST00000493344.2	-	11	1697	c.1385A>G	c.(1384-1386)tAc>tGc	p.Y462C	EIF2B4_ENST00000347454.4_Missense_Mutation_p.Y441C|EIF2B4_ENST00000451130.2_Missense_Mutation_p.Y461C|EIF2B4_ENST00000445933.2_Missense_Mutation_p.Y440C|AC074117.10_ENST00000412749.1_RNA			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	441					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding	p.Y461C(1)|p.Y441C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGAACTTGTATGTTTCACA	0.522000													23	101					0	0	0.003330	0	0
CTNNA2	1496	broad.mit.edu	37	2	80085262	80085262	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr2:80085262C>T	ENST00000466387.1	+	8	1146	c.422C>T	c.(421-423)gCg>gTg	p.A141V	CTNNA2_ENST00000496558.1_Missense_Mutation_p.A141V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A175V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A141V|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A141V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A141V			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	141					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.A141V(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTCATCCTGGCGGACATGGCA	0.498000													8	62					0	0	0.003080	0	0
PSG8	440533	broad.mit.edu	37	19	43359741	43359741	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr19:43359741G>C	ENST00000401467.2	-	1	102	c.31C>G	c.(31-33)Cag>Gag	p.Q11E	PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	11				TQR -> MQH (in Ref. 2; CAH18672).		extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTGATGTGCTGTGTGCAGGGA	0.582000													4	127					0	0	0.001168	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58007142	58007142	+	Splice_Site	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr12:58007142G>A	ENST00000286494.4	+	3	868	c.408_splice	c.e3+1	p.Q136_splice	AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Splice_Site_p.Q175_splice	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	136					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	p.Q136Q(1)|p.Q175Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						ATAAGACGCAGGTGTGAGGAC	0.567000													5	176					0	0	0.000602	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21940151	21940151	+	Silent	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr1:21940151G>A	ENST00000542643.2	-	10	746	c.444C>T	c.(442-444)acC>acT	p.T148T	RAP1GAP_ENST00000290101.4_Silent_p.T212T|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374761.2_Silent_p.T179T|RAP1GAP_ENST00000374763.2_Silent_p.T148T|RAP1GAP_ENST00000374765.4_Silent_p.T148T	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	148					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	p.T290T(1)|p.T179T(1)|p.T148T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TAGGGAACTCGGTGAGGCAGG	0.582000													13	88					0	0	0.001855	0	0
DMXL1	1657	broad.mit.edu	37	5	118485852	118485852	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr5:118485852G>C	ENST00000311085.8	+	18	4410	c.4330G>C	c.(4330-4332)Gat>Cat	p.D1444H	DMXL1_ENST00000539542.1_Missense_Mutation_p.D1444H	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1444								p.D1444H(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGAAAGTTATGATGAGCTTTT	0.338000													21	68					0	0	0.001882	0	0
NALCN	259232	broad.mit.edu	37	13	101756652	101756652	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr13:101756652T>C	ENST00000251127.6	-	25	2964	c.2883A>G	c.(2881-2883)atA>atG	p.I961M		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	961						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.I961M(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTACAAGATATATAAATATGT	0.363000													12	83					0	0	0.001368	0	0
ELP6	54859	broad.mit.edu	37	3	47545917	47545917	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr3:47545917G>A	ENST00000296149.4	-	4	396	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	ELP6_ENST00000446787.1_Missense_Mutation_p.R3W|ELP6_ENST00000439305.1_Missense_Mutation_p.R3W	NM_001031703.2	NP_001026873.2			elongator acetyltransferase complex subunit 6									p.R76W(1)									CCACGCTCCCGCGCCATGGTC	0.547000													5	33					0	0	0.001168	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951360	119951360	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr4:119951360G>C	ENST00000307142.4	+	4	1626	c.1430G>C	c.(1429-1431)aGa>aCa	p.R477T	SYNPO2_ENST00000429713.2_Missense_Mutation_p.R477T|SYNPO2_ENST00000434046.2_Missense_Mutation_p.R477T|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	477						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.R477T(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAACTGAACAGAGGGGACAAG	0.473000													7	39					0	0	0.001984	0	0
PRRC2C	23215	broad.mit.edu	37	1	171506560	171506560	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr1:171506560G>A	ENST00000367742.3	+	15	2694	c.2452G>A	c.(2452-2454)Gag>Aag	p.E818K	PRRC2C_ENST00000392078.3_Missense_Mutation_p.E818K|PRRC2C_ENST00000426496.2_Missense_Mutation_p.E816K|PRRC2C_ENST00000338920.4_Missense_Mutation_p.E816K			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	816							protein C-terminus binding	p.E818K(2)									TCCTCATGCTGAGCCTCAACA	0.408000													3	9					0	0	0.004672	0	0
CHD8	57680	broad.mit.edu	37	14	21870611	21870611	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr14:21870611G>A	ENST00000399982.2	-	18	3830	c.3766C>T	c.(3766-3768)Cgc>Tgc	p.R1256C	CHD8_ENST00000430710.3_Missense_Mutation_p.R977C|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000557364.1_Missense_Mutation_p.R1256C	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1256	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.R1256C(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTGATGAGGCGGTACACCTTC	0.453000													7	56					0	0	0.001984	0	0
PCNT	5116	broad.mit.edu	37	21	47805840	47805840	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr21:47805840G>A	ENST00000359568.5	+	17	3513	c.3406G>A	c.(3406-3408)Gaa>Aaa	p.E1136K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1136					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.E1136K(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGAGAACCGGGAAGGCGCAAA	0.597000													15	125					0	0	0.002450	0	0
COL4A2	1284	broad.mit.edu	37	13	111088678	111088678	+	Silent	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr13:111088678G>A	ENST00000360467.5	+	13	1095	c.789G>A	c.(787-789)gcG>gcA	p.A263A		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	263	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.A263A(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCATCATCGCGCCCACAGGAG	0.453000													14	44					0	0	0.004007	0	0
EXOC5	10640	broad.mit.edu	37	14	57684737	57684737	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr14:57684737C>G	ENST00000413566.2	-	15	1935	c.1576G>C	c.(1576-1578)Gaa>Caa	p.E526Q	EXOC5_ENST00000340918.7_Missense_Mutation_p.E461Q	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	526					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		p.E528Q(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TCCATTTGTTCAATTATTTCT	0.274000													15	69					0	0	0.004007	0	0
DGKG	1608	broad.mit.edu	37	3	186006670	186006670	+	Splice_Site	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr3:186006670C>T	ENST00000265022.3	-	6	913		c.e6-1		DGKG_ENST00000382164.4_Splice_Site|DGKG_ENST00000544847.1_Splice_Site|DGKG_ENST00000344484.4_Splice_Site	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ATATTTGATTCTGCGATGAAC	0.473000													5	243					0	0	0.000602	0	0
FERMT2	10979	broad.mit.edu	37	14	53331254	53331254	+	Silent	SNP	A	A	C			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr14:53331254A>C	ENST00000395631.2	-	12	1683	c.1467T>G	c.(1465-1467)gtT>gtG	p.V489V	FERMT2_ENST00000343279.4_Silent_p.V489V|FERMT2_ENST00000399304.3_Silent_p.V489V|FERMT2_ENST00000553373.1_Silent_p.V489V|FERMT2_ENST00000341590.3_Silent_p.V489V			Q96AC1	FERM2_HUMAN	fermitin family member 2	489	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	p.V489V(1)	ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					GAATATTCTGAACTTCTAAGT	0.423000													23	125					0	0	0.002780	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777140	18777140	+	Silent	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr9:18777140C>T	ENST00000380548.4	+	19	3252	c.2913C>T	c.(2911-2913)ccC>ccT	p.P971P		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	971						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.P971P(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGGCCCGGCCCTTGAGCCCGA	0.647000													10	52					0	0	0.000978	0	0
MUC16	94025	broad.mit.edu	37	19	9047598	9047598	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr19:9047598C>G	ENST00000397910.4	-	5	34236	c.34033G>C	c.(34033-34035)Gag>Cag	p.E11345Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11347	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E6978Q(1)|p.E11345Q(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGTTGCCTCTGATTCATGT	0.502000													10	212					0	0	0.000978	0	0
PLA2R1	22925	broad.mit.edu	37	2	160825826	160825826	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr2:160825826C>T	ENST00000283243.7	-	19	2911	c.2705G>A	c.(2704-2706)gGa>gAa	p.G902E	PLA2R1_ENST00000392771.1_Missense_Mutation_p.G902E	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	902	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.G902E(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TCTTTCTCTTCCTGTGTCCCA	0.388000													19	70					0	0	0.001216	0	0
ROBO1	6091	broad.mit.edu	37	3	78988027	78988027	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr3:78988027A>G	ENST00000436010.2	-	2	1103	c.106T>C	c.(106-108)Tca>Cca	p.S36P	ROBO1_ENST00000495273.1_Missense_Mutation_p.S36P|ROBO1_ENST00000467549.1_Missense_Mutation_p.S36P|ROBO1_ENST00000464233.1_Missense_Mutation_p.S75P			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	75					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	p.S75P(2)|p.S36P(1)|p.S52P(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATCAGGTCTGAAGGGTGTTCA	0.453000													17	71					0	0	0.006122	0	0
MAP3K8	1326	broad.mit.edu	37	10	30740626	30740626	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr10:30740626C>T	ENST00000263056.1	+	6	1522	c.826C>T	c.(826-828)Caa>Taa	p.Q276*	MAP3K8_ENST00000375321.1_Nonsense_Mutation_p.Q276*|MAP3K8_ENST00000542547.1_Nonsense_Mutation_p.Q276*	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	276	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	p.Q276*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CCTAAGTGTTCAAATGACCGA	0.313000													19	73					0	0	0.003330	0	0
DHX36	170506	broad.mit.edu	37	3	154027503	154027503	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr3:154027503C>T	ENST00000496811.1	-	5	832	c.752G>A	c.(751-753)aGa>aAa	p.R251K	DHX36_ENST00000308361.6_Missense_Mutation_p.R251K|DHX36_ENST00000544526.1_Missense_Mutation_p.R251K|DHX36_ENST00000329463.5_Missense_Mutation_p.R251K	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	251	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R251K(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCCTTTTCCTCTTTCAATGTA	0.323000													8	48					0	0	0.006214	0	0
EPHB4	2050	broad.mit.edu	37	7	100405020	100405020	+	Silent	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr7:100405020C>T	ENST00000358173.3	-	13	2769	c.2301G>A	c.(2299-2301)gaG>gaA	p.E767E	EPHB4_ENST00000360620.3_Silent_p.E767E	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	767	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.E767E(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGGAAGAGTTCTCCTCCAGGA	0.562000													5	93					0	0	0.001984	0	0
SMAD2	4087	broad.mit.edu	37	18	45368254	45368254	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr18:45368254C>T	ENST00000402690.2	-	11	1742	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	SMAD2_ENST00000586040.1_Missense_Mutation_p.D420N|SMAD2_ENST00000262160.6_Missense_Mutation_p.D450N|SMAD2_ENST00000356825.4_Missense_Mutation_p.D420N	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	450	MH2.		D -> E (in a colorectal carcinoma sample).		anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	p.D450N(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						AATACTTTGTCCAACCACTGT	0.398000													7	56					0	0	0.001984	0	0
NAA16	79612	broad.mit.edu	37	13	41941661	41941661	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr13:41941661G>C	ENST00000379406.3	+	14	1950	c.1626G>C	c.(1624-1626)ttG>ttC	p.L542F	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	542					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	p.L542F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TTGACCTTTTGAGATTAGAAG	0.343000													9	76					0	0	0.006214	0	0
GUSBP1	728411	broad.mit.edu	37	5	21459805	21459805	+	RNA	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr5:21459805C>T	ENST00000607545.1	+	0	48					NR_027026.1																						TCAGACGCATCGGGACCGGAC	0.642000											OREG0016459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	49					0	0	0.000978	0	0
RERGL	79785	broad.mit.edu	37	12	18234236	18234236	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr12:18234236G>C	ENST00000229002.2	-	6	713	c.507C>G	c.(505-507)atC>atG	p.I169M	RERGL_ENST00000538724.1_Missense_Mutation_p.I168M	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	169	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity	p.I169M(2)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						GGATGTCCTTGATAATTCTGA	0.408000													10	150					0	0	0.000673	0	0
OR2A25	392138	broad.mit.edu	37	7	143772003	143772003	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr7:143772003G>A	ENST00000408898.2	+	1	729	c.691G>A	c.(691-693)Gag>Aag	p.E231K		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E231K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CCAGTCAGGAGAGGGGTGCCA	0.488000													33	151					0	0	0.001786	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	91					0	0	0.004672	0	0
NRK	203447	broad.mit.edu	37	X	105153377	105153377	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chrX:105153377C>G	ENST00000428173.2	+	13	2050	c.1747C>G	c.(1747-1749)Cga>Gga	p.R583G	NRK_ENST00000243300.9_Missense_Mutation_p.R582G			Q7Z2Y5	NRK_HUMAN	Nik related kinase	582							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R583G(1)|p.R582G(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TGAGTCATTACGAGTAAATGC	0.537000										HNSCC(51;0.14)			2	6					0	0	0.004672	0	0
PREX1	57580	broad.mit.edu	37	20	47269227	47269227	+	Silent	SNP	G	G	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr20:47269227G>T	ENST00000396220.1	-	21	2386	c.2364C>A	c.(2362-2364)atC>atA	p.I788I	PREX1_ENST00000371941.3_Silent_p.I788I			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	788					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.I788I(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGGTGTGGTAGATCCACTGGT	0.642000													7	43					8.12818e-05	0.000110398	0.001984	1	0
TRPM6	140803	broad.mit.edu	37	9	77377180	77377180	+	Silent	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr9:77377180C>T	ENST00000451710.3	-	26	4644	c.4407G>A	c.(4405-4407)aaG>aaA	p.K1469K	TRPM6_ENST00000361255.3_Silent_p.K1464K|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Silent_p.K1469K|TRPM6_ENST00000449912.2_Silent_p.K1464K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000360774.1_Silent_p.K1469K			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1469					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K1469K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCCACTTTTTCTTGATGCTAA	0.488000													4	145					0	0	0.000602	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356452	40356452	+	Missense_Mutation	SNP	C	C	T	rs139982841	byFrequency	TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr4:40356452C>T	ENST00000310169.2	+	5	1494	c.1355C>T	c.(1354-1356)gCg>gTg	p.A452V		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	452					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	p.A452V(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	AAGAAGGTGGCGAAAGTCATA	0.433000													7	100					0	0	0.001984	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55341715	55341715	+	Silent	SNP	T	T	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr19:55341715T>A	ENST00000391728.4	+	9	1353	c.1320T>A	c.(1318-1320)gtT>gtA	p.V440V	KIR3DL1_ENST00000326542.7_Silent_p.V423V|KIR3DL1_ENST00000358178.4_Silent_p.V345V|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Silent_p.V423V|KIR3DL1_ENST00000538269.1_Silent_p.V440V	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1									p.V440V(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GATCCAAAGTTGTCTCCTGCC	0.527000													51	370					0	0	0.003610	0	0
MYO15A	51168	broad.mit.edu	37	17	18025526	18025526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr17:18025526C>T	ENST00000205890.5	+	2	3750	c.3412C>T	c.(3412-3414)Caa>Taa	p.Q1138*		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1138	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.Q1138*(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTGAAGCCTCAAGTCCAGCC	0.612000													11	34					0	0	0.001855	0	0
CDHR3	222256	broad.mit.edu	37	7	105662823	105662823	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr7:105662823G>C	ENST00000542731.1	+	14	2113	c.2005G>C	c.(2005-2007)Gag>Cag	p.E669Q	CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000317716.9_Missense_Mutation_p.E669Q|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000478080.1_Missense_Mutation_p.E581Q			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	669	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E669Q(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GGCTCTTGTTGAGACAGGAAC	0.488000													4	200					0	0	0.000248	0	0
CHRNB1	1140	broad.mit.edu	37	17	7350939	7350939	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr17:7350939G>A	ENST00000306071.2	+	6	647	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	CHRNB1_ENST00000576360.1_Missense_Mutation_p.E122K|CHRNB1_ENST00000536404.2_Missense_Mutation_p.E122K	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	194					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity	p.E194K(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				AGGGCATCAGGAAATCCACAT	0.507000													12	60					0	0	0.000978	0	0
RET	5979	broad.mit.edu	37	10	43615593	43615593	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr10:43615593C>A	ENST00000355710.3	+	15	2904	c.2672C>A	c.(2671-2673)tCg>tAg	p.S891*	RET_ENST00000340058.5_Nonsense_Mutation_p.S891*	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	891	Protein kinase.		S -> A (in MTC; familial form).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.S891*(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	ATGAAGATTTCGGATTTCGGC	0.567000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				7	28					2.17888e-05	3.00421e-05	0.006214	1	0
CENPC	1060	broad.mit.edu	37	4	68380366	68380366	+	Silent	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr4:68380366C>T	ENST00000273853.6	-	8	1120	c.870G>A	c.(868-870)tcG>tcA	p.S290S		NM_001812.2	NP_001803.2			centromere protein C									p.S290S(1)									CGGGAGGACACGAATGAGGTG	0.373000													4	15					0	0	0.001168	0	0
AMPD2	271	broad.mit.edu	37	1	110168292	110168292	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr1:110168292C>G	ENST00000256578.3	+	3	753	c.393C>G	c.(391-393)ttC>ttG	p.F131L	AMPD2_ENST00000528667.1_Missense_Mutation_p.F131L|AMPD2_ENST00000528454.1_Missense_Mutation_p.F13L|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000393688.3_Missense_Mutation_p.F12L|AMPD2_ENST00000358729.4_Missense_Mutation_p.F56L|AMPD2_ENST00000342115.4_Missense_Mutation_p.F50L	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	131					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.F131L(1)		breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGGAGCTGTTCACCCGCTCAC	0.672000													7	34					0	0	0.001984	0	0
AGL	178	broad.mit.edu	37	1	100346961	100346961	+	Silent	SNP	C	C	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr1:100346961C>A	ENST00000294724.4	+	16	2593	c.2115C>A	c.(2113-2115)atC>atA	p.I705I	AGL_ENST00000370163.3_Silent_p.I705I|AGL_ENST00000361302.3_Silent_p.I689I|AGL_ENST00000361522.4_Silent_p.I688I|AGL_ENST00000361915.3_Silent_p.I705I|AGL_ENST00000370161.2_Silent_p.I689I|AGL_ENST00000370165.3_Silent_p.I705I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	705					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	p.I705I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GGTGTGCTATCAGTAAACTTC	0.393000													20	85					0.00152264	0.00204769	0.001523	1	0
MGA	23269	broad.mit.edu	37	15	42003303	42003303	+	Nonsense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr15:42003303C>G	ENST00000219905.7	+	8	3021	c.2840C>G	c.(2839-2841)tCa>tGa	p.S947*	MGA_ENST00000545763.1_Nonsense_Mutation_p.S947*|MGA_ENST00000570161.1_Nonsense_Mutation_p.S947*|MGA_ENST00000389936.4_Nonsense_Mutation_p.S947*|MGA_ENST00000566586.1_Nonsense_Mutation_p.S947*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	947						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.S947*(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GGCATCATCTCAGAAAATCAG	0.393000													40	110					0	0	0.002852	0	0
CNTN1	1272	broad.mit.edu	37	12	41463834	41463834	+	Silent	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr12:41463834C>T	ENST00000551295.2	+	24	3171	c.3054C>T	c.(3052-3054)ttC>ttT	p.F1018F	CNTN1_ENST00000348761.2_Silent_p.F1007F|CNTN1_ENST00000347616.1_Silent_p.F1018F	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	1018					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.F1018F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ACTTGGAATTCTGAATGTGTT	0.507000													9	92					0	0	0.004482	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21349967	21349967	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr12:21349967C>G	ENST00000256958.2	+	8	911	c.815C>G	c.(814-816)tCt>tGt	p.S272C		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	272					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.S272C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TCCATTATTTCTTCCATACCA	0.378000													7	340					0	0	0.003080	0	0
SYNE2	23224	broad.mit.edu	37	14	64634013	64634013	+	Silent	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr14:64634013C>G	ENST00000357395.3	+	92	16967	c.5823C>G	c.(5821-5823)ctC>ctG	p.L1941L	SYNE2_ENST00000555002.1_Silent_p.L2190L|SYNE2_ENST00000554584.1_Silent_p.L5431L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.L1941L|SYNE2_ENST00000358025.3_Silent_p.L5556L|SYNE2_ENST00000344113.4_Silent_p.L5556L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5556					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.L5556L(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGTGAGCCTCAAGCTCCCAC	0.463000													3	65					0	0	0.000248	0	0
SLK	9748	broad.mit.edu	37	10	105727608	105727608	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr10:105727608G>C	ENST00000369755.3	+	1	650	c.105G>C	c.(103-105)gaG>gaC	p.E35D	SLK_ENST00000335753.4_Missense_Mutation_p.E35D	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	35	Protein kinase.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	p.E35D(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACTTTTGGGAGATTATAGGAG	0.498000													5	108					0	0	0.000602	0	0
FAM73B	84895	broad.mit.edu	37	9	131810777	131810777	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr9:131810777G>C	ENST00000277475.5	+	4	565	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	FAM73B_ENST00000406926.2_Missense_Mutation_p.E127Q|FAM73B_ENST00000358369.4_Missense_Mutation_p.E127Q			Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	127	Ser-rich.					integral to membrane		p.E127Q(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						CTCTTCCATTGAGCCCAGCAA	0.642000													7	83					0	0	0.003080	0	0
NBPF1	55672	broad.mit.edu	37	1	16892161	16892161	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr1:16892161C>T	ENST00000430580.2	-	27	3918	c.3031G>A	c.(3031-3033)Gaa>Aaa	p.E1011K		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1011	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACATGTTTTTCCTCCAATGCA	0.438000													20	2452					0	0	0.006214	0	0
BVES	11149	broad.mit.edu	37	6	105581342	105581342	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr6:105581342C>G	ENST00000314641.5	-	2	327	c.111G>C	c.(109-111)tgG>tgC	p.W37C	BVES_ENST00000336775.5_Missense_Mutation_p.W37C|BVES_ENST00000446408.2_Missense_Mutation_p.W37C	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	37					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	p.W37C(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GTATCTCTCTCCAGTTTTCAC	0.393000													10	87					0	0	0.006214	0	0
IAPP	3375	broad.mit.edu	37	12	21526328	21526328	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr12:21526328G>A	ENST00000542023.1	+	2	144	c.43G>A	c.(43-45)Gtt>Att	p.V15I	SLCO1A2_ENST00000307378.6_Intron|IAPP_ENST00000539393.1_Missense_Mutation_p.V15I|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000537524.1_Intron|IAPP_ENST00000240652.3_Missense_Mutation_p.V15I			P10997	IAPP_HUMAN	islet amyloid polypeptide	15					apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity	p.V15I(1)		lung(3)	3					Perindopril(DB00790)	TGTGCTCTCTGTTGCATTGAA	0.348000													11	211					0	0	0.004007	0	0
BAGE2	85319	broad.mit.edu	37	21	11039153	11039153	+	RNA	SNP	T	T	C			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr21:11039153T>C	ENST00000470054.1	-	0	1050									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCTTTCCTCATGTGGGGACAC	0.398000													15	392					0	0	0.004007	0	0
CNTRL	11064	broad.mit.edu	37	9	123917162	123917162	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr9:123917162G>A	ENST00000373855.1	+	27	4596	c.4336G>A	c.(4336-4338)Gag>Aag	p.E1446K	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.E894K|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1446K|CNTRL_ENST00000373847.1_Missense_Mutation_p.E894K			Q7Z7A1	CNTRL_HUMAN	centriolin	1446					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	p.E1446K(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GGCAGAGGCTGAGAGTGAACT	0.463000													11	91					0	0	0.001855	0	0
SMPD1	6609	broad.mit.edu	37	11	6413070	6413070	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr11:6413070C>G	ENST00000342245.4	+	2	943	c.775C>G	c.(775-777)Ctg>Gtg	p.L259V	SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000299397.3_Missense_Mutation_p.L259V|SMPD1_ENST00000527275.1_Missense_Mutation_p.L258V|SMPD1_ENST00000356761.2_Missense_Mutation_p.L259V	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	257					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	p.L259V(2)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	CCTGAGGACCCTGGAGAGCCT	0.647000													23	80					0	0	0.002299	0	0
POPDC2	64091	broad.mit.edu	37	3	119367417	119367417	+	Silent	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr3:119367417G>A	ENST00000493094.1	-	3	1158	c.699C>T	c.(697-699)ttC>ttT	p.F233F	POPDC2_ENST00000468801.1_Silent_p.F233F|POPDC2_ENST00000264231.3_Silent_p.F233F|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000538678.1_Silent_p.F233F			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	233						integral to membrane		p.F233F(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		GCAGAGCCGAGAAGAGGCAGG	0.512000													13	65					0	0	0.001368	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86916545	86916545	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr4:86916545G>A	ENST00000395184.1	+	9	2204	c.1738G>A	c.(1738-1740)Gag>Aag	p.E580K	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.E485K|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.E487K	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	580					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	p.E580K(1)|p.E487K(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CACCTGCCCAGAGCAAGACTT	0.547000													5	117					0	0	0.003080	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81037046	81037046	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr10:81037046G>A	ENST00000334512.5	+	8	961	c.389G>A	c.(388-390)aGc>aAc	p.S130N	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	130					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	p.S130N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCCCCTCTCAGCTCCATGAGC	0.617000													6	30					0	0	0.001168	0	0
ABCD2	225	broad.mit.edu	37	12	40012767	40012767	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr12:40012767G>T	ENST00000308666.3	-	1	786	c.651C>A	c.(649-651)ttC>ttA	p.F217L		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	217	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	p.F217L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CAGATTGGGAGAACATCATAA	0.393000													29	61					7.26314e-15	1.02738e-14	0.007291	1	0
STXBP5	134957	broad.mit.edu	37	6	147703982	147703982	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr6:147703982G>A	ENST00000367481.3	+	25	3262	c.3154G>A	c.(3154-3156)Gaa>Aaa	p.E1052K	STXBP5_ENST00000321680.6_Missense_Mutation_p.E1088K|STXBP5_ENST00000179882.6_Missense_Mutation_p.E743K|STXBP5_ENST00000367480.3_Missense_Mutation_p.E1035K	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1088					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	p.E1052K(1)|p.E1088K(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TGGTGGCATTGAAGGCGTAAA	0.488000													23	177					0	0	0.003954	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52911672	52911672	+	Silent	SNP	A	A	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr1:52911672A>G	ENST00000371544.3	-	23	3958	c.3696T>C	c.(3694-3696)ccT>ccC	p.P1232P	ZCCHC11_ENST00000257177.4_Silent_p.P1232P	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1232	PAP-associated 2.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	p.P1232P(2)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TCAAGTCAAAAGGGTCTACAA	0.303000													3	60					0	0	0.000248	0	0
FAM110B	90362	broad.mit.edu	37	8	59058927	59058927	+	Silent	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr8:59058927G>A	ENST00000361488.3	+	5	1018	c.138G>A	c.(136-138)aaG>aaA	p.K46K	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	46						microtubule organizing center|mitochondrion|nucleus		p.K46K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CCAACCCCAAGAGGCTCAGCG	0.672000													3	31					0	0	0.004672	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616334	77616334	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr8:77616334G>A	ENST00000521891.2	+	2	459	c.11G>A	c.(10-12)tGt>tAt	p.C4Y	ZFHX4_ENST00000050961.6_Missense_Mutation_p.C4Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.C4Y|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.C4Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	4						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C4Y(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGGAAACCTGTGACTCCCCT	0.443000										HNSCC(33;0.089)			4	25					0	0	0.000248	0	0
ZNF398	57541	broad.mit.edu	37	7	148876534	148876534	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr7:148876534G>C	ENST00000420008.2	+	6	1845	c.1057G>C	c.(1057-1059)Gag>Cag	p.E353Q	ZNF398_ENST00000540950.1_Missense_Mutation_p.E529Q|ZNF398_ENST00000483892.1_Missense_Mutation_p.E353Q|ZNF398_ENST00000475153.1_Missense_Mutation_p.E524Q|ZNF398_ENST00000335901.4_Missense_Mutation_p.E353Q|ZNF398_ENST00000426851.2_Missense_Mutation_p.E353Q|ZNF398_ENST00000491174.1_Missense_Mutation_p.E353Q	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	524					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E524Q(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CATGCGCAAGGAGCACCTGCT	0.592000													4	68					0	0	0.000248	0	0
BNC1	646	broad.mit.edu	37	15	83926860	83926860	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr15:83926860G>T	ENST00000345382.2	-	5	2404	c.2319C>A	c.(2317-2319)aaC>aaA	p.N773K	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.N766K	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	773					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N773K(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TTTGGTGGAGGTTTAGGTTTG	0.438000													17	77					5.3912e-06	7.47106e-06	0.006122	1	0
SNRNP35	11066	broad.mit.edu	37	12	123950180	123950180	+	Silent	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr12:123950180C>T	ENST00000526639.2	+	2	672	c.93C>T	c.(91-93)gtC>gtT	p.V31V	SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000412157.2_Silent_p.V36V|SNRNP35_ENST00000350887.5_Silent_p.V31V	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	31					mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding	p.V31V(1)		NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						ACCGCGCGGTCTGGAGGGCAA	0.547000													17	43					0	0	0.007413	0	0
IQUB	154865	broad.mit.edu	37	7	123105017	123105017	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr7:123105017C>G	ENST00000466202.1	-	10	2204	c.1628G>C	c.(1627-1629)aGa>aCa	p.R543T	IQUB_ENST00000434450.1_Missense_Mutation_p.R543T|IQUB_ENST00000324698.6_Missense_Mutation_p.R543T			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	543										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GTCAACCTCTCTGTCAATCAA	0.313000													4	298					0	0	0.000602	0	0
F8	2157	broad.mit.edu	37	X	154157942	154157942	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chrX:154157942C>G	ENST00000360256.4	-	14	4323	c.4123G>C	c.(4123-4125)Gac>Cac	p.D1375H		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1375	B.				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	p.D1375H(2)		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)	TCATTGTAGTCTATCTGTGTG	0.438000													10	149					0	0	0.000673	0	0
ALLC	55821	broad.mit.edu	37	2	3744967	3744967	+	Silent	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr2:3744967G>A	ENST00000252505.3	+	10	933	c.771G>A	c.(769-771)ccG>ccA	p.P257P	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	276							allantoicase activity	p.P257P(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TCTTGGTTCCGGGTTGTGAAT	0.393000										HNSCC(21;0.051)			28	115					0	0	0.002445	0	0
CDH4	1002	broad.mit.edu	37	20	60498691	60498691	+	Silent	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr20:60498691C>T	ENST00000360469.5	+	10	1645	c.1557C>T	c.(1555-1557)ggC>ggT	p.G519G	CDH4_ENST00000543233.1_Silent_p.G445G	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	519	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding	p.G519G(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGGAGGAGGGCGTGCCCCCCG	0.622000													9	23					0	0	0.004482	0	0
PLXNA4	91584	broad.mit.edu	37	7	131849960	131849960	+	Splice_Site	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr7:131849960C>T	ENST00000359827.3	-	23	5249		c.e23-1		PLXNA4_ENST00000321063.4_Splice_Site			Q9HCM2	PLXA4_HUMAN	plexin A4							integral to membrane|intracellular|plasma membrane		p.?(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGACTCAGTCCTGTCAGCAGT	0.517000													11	110					0	0	0.000673	0	0
PSMD2	5708	broad.mit.edu	37	3	184026274	184026274	+	Silent	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr3:184026274G>A	ENST00000310118.4	+	20	3021	c.2463G>A	c.(2461-2463)ctG>ctA	p.L821L	PSMD2_ENST00000435761.1_Silent_p.L662L|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Silent_p.L691L	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	821					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	p.L821L(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TGTATGGGCTGGTGGCTGCCA	0.517000											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	348					0	0	0.003080	0	0
ANKRD44	91526	broad.mit.edu	37	2	197873717	197873717	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr2:197873717C>G	ENST00000328737.2	-	19	1964	c.1888G>C	c.(1888-1890)Gaa>Caa	p.E630Q	ANKRD44_ENST00000450567.1_Missense_Mutation_p.E630Q|ANKRD44_ENST00000337207.5_Missense_Mutation_p.E630Q|ANKRD44_ENST00000282272.8_Missense_Mutation_p.E647Q			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	655							protein binding	p.E470Q(1)|p.E630Q(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCTGCAATTTCTAGCAACAGC	0.438000													5	177					0	0	0.001168	0	0
SRPR	6734	broad.mit.edu	37	11	126135202	126135202	+	Silent	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr11:126135202G>A	ENST00000332118.6	-	10	1426	c.1272C>T	c.(1270-1272)tgC>tgT	p.C424C	SRPR_ENST00000532259.1_Silent_p.C396C	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	424					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	p.C424C(1)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CATTAACGCCGCAGAAGGTGA	0.532000													12	59					0	0	0.001855	0	0
TMEM45B	120224	broad.mit.edu	37	11	129724602	129724602	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr11:129724602G>A	ENST00000281441.3	+	3	364	c.276G>A	c.(274-276)atG>atA	p.M92I	TMEM45B_ENST00000524567.1_Missense_Mutation_p.M92I	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	92						integral to membrane		p.M92I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		ACAGCACCATGTACCTATTCT	0.517000													5	94					0	0	0.000602	0	0
LRRK2	120892	broad.mit.edu	37	12	40734215	40734215	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr12:40734215A>G	ENST00000298910.7	+	41	6126	c.6068A>G	c.(6067-6069)tAc>tGc	p.Y2023C		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2023	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.Y2030C(1)|p.Y2023C(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATTGCTCAGTACTGCTGTAGA	0.453000													20	142					0	0	0.001882	0	0
ZNF135	7694	broad.mit.edu	37	19	58578972	58578972	+	Nonsense_Mutation	SNP	C	C	T	rs149615463	byFrequency	TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr19:58578972C>T	ENST00000506786.1	+	5	1548	c.994C>T	c.(994-996)Cga>Tga	p.R332*	ZNF135_ENST00000313434.5_Nonsense_Mutation_p.R374*|ZNF135_ENST00000511556.1_Nonsense_Mutation_p.R386*|ZNF135_ENST00000439855.2_Nonsense_Mutation_p.R374*|ZNF135_ENST00000401053.4_Nonsense_Mutation_p.R398*|ZNF135_ENST00000359978.6_Intron			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	386					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.R398*(1)|p.R374*(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CAAACACCAGCGAATCCACAC	0.557000													11	56					0	0	0.000978	0	0
NOVA2	4858	broad.mit.edu	37	19	46443408	46443408	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr19:46443408C>G	ENST00000263257.5	-	4	1386	c.1192G>C	c.(1192-1194)Gag>Cag	p.E398Q		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	398	Ala-rich.					nucleus	RNA binding	p.E398Q(1)		endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GCCAGCTTCTCCGCCGTCAGG	0.756000													6	42					0	0	0.001984	0	0
HTRA1	5654	broad.mit.edu	37	10	124248444	124248444	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr10:124248444C>T	ENST00000368984.3	+	2	627	c.499C>T	c.(499-501)Cat>Tat	p.H167Y		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	167					proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity	p.H167Y(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				CAGTTTGCGCCATAAATATAA	0.448000													25	128					0	0	0.001512	0	0
ZIK1	284307	broad.mit.edu	37	19	58102051	58102051	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr19:58102051G>A	ENST00000597850.1	+	4	1087	c.872G>A	c.(871-873)gGa>gAa	p.G291E	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.G236E|ZIK1_ENST00000536878.2_Missense_Mutation_p.G278E	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G291E(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCCACACCGGAGAAAGGCCT	0.458000													11	50					0	0	0.000673	0	0
ITIH5	80760	broad.mit.edu	37	10	7658063	7658063	+	Splice_Site	SNP	T	T	C			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr10:7658063T>C	ENST00000256861.6	-	7	901		c.e7-2		ITIH5_ENST00000446830.2_Splice_Site|ITIH5_ENST00000434980.1_Splice_Site|ITIH5_ENST00000298441.6_Splice_Site|ITIH5_ENST00000397146.2_Splice_Site|ITIH5_ENST00000397145.2_Splice_Site	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5						hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.?(2)		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						ATTTAGAACCTGGTGGAGGGA	0.423000													13	64					0	0	0.002450	0	0
TRIM51	84767	broad.mit.edu	37	11	55658753	55658753	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr11:55658753C>G	ENST00000449290.2	+	7	1096	c.1004C>G	c.(1003-1005)gCt>gGt	p.A335G	TRIM51_ENST00000244891.3_Missense_Mutation_p.A192G	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	335	B30.2/SPRY.					intracellular	zinc ion binding	p.A176G(1)|p.A335G(1)									GGGGCTCAGGCTTTCACATCT	0.423000													37	157					0	0	0.004289	0	0
DZANK1	55184	broad.mit.edu	37	20	18432608	18432608	+	Splice_Site	SNP	T	T	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr20:18432608T>A	ENST00000357236.4	-	7	752		c.e7-2		DZANK1_ENST00000329494.5_Intron|DZANK1_ENST00000377630.5_Intron|DZANK1_ENST00000262547.5_Intron|DZANK1_ENST00000487128.1_Intron			Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1							intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						gtgtcttgcctgccaaacaga	0.383000													6	54					0	0	0.001168	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56736297	56736297	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr19:56736297G>A	ENST00000587340.1	-	4	814	c.119C>T	c.(118-120)cCt>cTt	p.P40L	ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.P40L|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.P40L|ZSCAN5A_ENST00000254165.3_Intron			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	40					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P40L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGAAATCTCAGGGTCCACGTC	0.542000													21	62					0	0	0.001882	0	0
ZPBP	11055	broad.mit.edu	37	7	50070765	50070765	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr7:50070765G>C	ENST00000046087.2	-	5	698	c.629C>G	c.(628-630)tCc>tGc	p.S210C	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Missense_Mutation_p.S209C	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	210					binding of sperm to zona pellucida	extracellular region		p.S210C(1)		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)					CTTAAGTAAGGAAATTTCACA	0.333000													10	142					0	0	0.000978	0	0
PIK3R3	8503	broad.mit.edu	37	1	46532651	46532651	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr1:46532651C>G	ENST00000262741.5	-	4	1116	c.427G>C	c.(427-429)Gaa>Caa	p.E143Q	PIK3R3_ENST00000372006.1_Missense_Mutation_p.E143Q|PIK3R3_ENST00000340332.6_Missense_Mutation_p.E107Q|PIK3R3_ENST00000420542.1_Missense_Mutation_p.E143Q|PIK3R3_ENST00000540385.1_Missense_Mutation_p.E189Q|PIK3R3_ENST00000354242.4_Missense_Mutation_p.E143Q|PIK3R3_ENST00000423209.1_Missense_Mutation_p.E143Q	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	143	SH2 1.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					GCAAGAGATTCATGGTGATAG	0.393000													3	149					0	0	0.000248	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39253960	39253960	+	Missense_Mutation	SNP	C	C	T	rs144672535	by1000genomes	TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr17:39253960C>T	ENST00000333822.4	-	1	433	c.377G>A	c.(376-378)cGc>cAc	p.R126H		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	126	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].			R -> H (in Ref. 2; CAC27579).		keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						gcagctggggcggcagcagtt	0.672000													4	19					0	0	0.001168	0	0
UGT2B17	7367	broad.mit.edu	37	4	69416591	69416591	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr4:69416591T>A	ENST00000317746.2	-	5	1159	c.1117A>T	c.(1117-1119)Ata>Tta	p.I373L		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	373					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.I373L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						CCATGAGTTATAAAAGCTTTG	0.378000													36	147					0	0	0.006999	0	0
C4orf3	401152	broad.mit.edu	37	4	120221707	120221707	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr4:120221707C>T	ENST00000399075.4	-	2	382	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	C4orf3_ENST00000504110.1_5'UTR	NM_001170330.1	NP_001163801.1	Q8WVX3	CD003_HUMAN	chromosome 4 open reading frame 3	0						integral to membrane		p.R128Q(1)		breast(1)|large_intestine(1)|lung(4)	6						CCTGCAGCTTCGTAACAACCC	0.622000													11	54					0	0	0.000978	0	0
ZNF658	26149	broad.mit.edu	37	9	40772608	40772608	+	Silent	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr9:40772608C>T	ENST00000602553.1	-	5	2961	c.2667G>A	c.(2665-2667)aaG>aaA	p.K889K	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Silent_p.K889K			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	889					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K889K(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGGAGAAAGTCTTCCCACAGT	0.448000													7	158					0	0	0.006214	0	0
THSD7B	80731	broad.mit.edu	37	2	138000026	138000026	+	Splice_Site	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr2:138000026G>A	ENST00000409968.1	+	10	2328		c.e10-1		THSD7B_ENST00000413152.2_Splice_Site|THSD7B_ENST00000272643.3_Splice_Site|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B									p.?(2)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CACATTGACAGATGTCCAGAT	0.443000													4	51					0	0	0.000248	0	0
YIPF3	25844	broad.mit.edu	37	6	43480052	43480052	+	Splice_Site	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr6:43480052C>T	ENST00000372422.2	-	9	1088	c.904_splice	c.e9-1	p.G302_splice	YIPF3_ENST00000506469.1_Splice_Site_p.G308_splice	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	302					cell differentiation	integral to membrane|plasma membrane|transport vesicle		p.G302G(1)		large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TGTCCAGGATCCCTGGAAGGA	0.612000													21	63					0	0	0.001523	0	0
TRPV5	56302	broad.mit.edu	37	7	142609675	142609675	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr7:142609675C>A	ENST00000265310.1	-	13	2109	c.1761G>T	c.(1759-1761)caG>caT	p.Q587H		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	587					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.Q587H(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CATCCCTCTCCTGGGCCACCC	0.502000													8	98					3.86212e-05	5.29828e-05	0.000673	1	0
ZKSCAN1	7586	broad.mit.edu	37	7	99621184	99621184	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr7:99621184G>A	ENST00000324306.6	+	2	289	c.55G>A	c.(55-57)Gag>Aag	p.E19K	ZKSCAN1_ENST00000535170.1_Intron|ZKSCAN1_ENST00000426572.1_5'UTR	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	19					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E19K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GGCTGCACAGGAGAAGGATGG	0.557000													7	94					0	0	0.004482	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44506472	44506472	+	Silent	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr20:44506472C>T	ENST00000255152.2	+	2	1484	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	ZSWIM3_ENST00000454862.2_Silent_p.F419F	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	425							zinc ion binding	p.F425F(1)|p.F425L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				ACATAGACTTCTTTAATACCA	0.498000													3	61					0	0	0.000248	0	0
IFNA2	3440	broad.mit.edu	37	9	21384775	21384775	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr9:21384775C>T	ENST00000380206.2	-	1	621	c.554G>A	c.(553-555)aGa>aAa	p.R185K		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	185					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.R185K(1)		breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TTCCTTACTTCTTAAACTTTC	0.368000													17	181					0	0	0.004007	0	0
ANKRD26	22852	broad.mit.edu	37	10	27382712	27382712	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr10:27382712C>G	ENST00000376087.4	-	2	424	c.259G>C	c.(259-261)Gcc>Ccc	p.A87P	ANKRD26_ENST00000436985.2_Missense_Mutation_p.A87P	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	87						centrosome		p.A87P(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTGGCACAGGCCAAATGTAGA	0.403000													20	72					0	0	0.001523	0	0
FBXO47	494188	broad.mit.edu	37	17	37118263	37118263	+	Silent	SNP	T	T	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr17:37118263T>G	ENST00000378079.2	-	3	418	c.219A>C	c.(217-219)acA>acC	p.T73T		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	73	F-box.							p.T73T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						GTTGGCTGACTGTTTTGGACA	0.373000													22	74					0	0	0.002780	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686524	125686524	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chrX:125686524G>A	ENST00000371126.1	-	1	310	c.68C>T	c.(67-69)tCg>tTg	p.S23L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	23								p.S23L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTGCGACGGCGAGCTCTCGGC	0.711000													16	29					0	0	0.004990	0	0
MDH1B	130752	broad.mit.edu	37	2	207621660	207621660	+	Silent	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr2:207621660C>T	ENST00000374412.3	-	4	650	c.375G>A	c.(373-375)ctG>ctA	p.L125L	MDH1B_ENST00000449792.1_Silent_p.L27L|MDH1B_ENST00000454776.2_Silent_p.L125L|MDH1B_ENST00000392214.2_Silent_p.L125L	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	125					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	p.L125L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TGCAAGTTTTCAGGGCTTCTT	0.433000													7	47					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179644903	179644903	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr2:179644903G>A	ENST00000589042.1	-	22	3777	c.3553C>T	c.(3553-3555)Caa>Taa	p.Q1185*	TTN_ENST00000591111.1_Nonsense_Mutation_p.Q1185*|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q1139*|TTN_ENST00000360870.5_Nonsense_Mutation_p.Q1185*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q1139*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q1185*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q1139*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1185							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q1139*(3)|p.Q1185*(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCATTTCTTGCTGGGACTTC	0.353000													7	65					0	0	0.001984	0	0
CETN1	1068	broad.mit.edu	37	18	580696	580696	+	Silent	SNP	G	G	A	rs114552098	by1000genomes	TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr18:580696G>A	ENST00000327228.3	+	1	330	c.288G>A	c.(286-288)aaG>aaA	p.K96K		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	96	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	p.K96K(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						TGACGCAGAAGATGTCCGAGA	0.507000													4	59					0	0	0.000248	0	0
GOLGA2	2801	broad.mit.edu	37	9	131028134	131028134	+	Silent	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr9:131028134G>A	ENST00000421699.2	-	10	690	c.678C>T	c.(676-678)ctC>ctT	p.L226L		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	226						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCTCTGATACGAGGATCCCTA	0.502000													6	96					0	0	0.001168	0	0
ODF2	4957	broad.mit.edu	37	9	131219695	131219695	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr9:131219695C>T	ENST00000434106.2	+	2	374	c.11C>T	c.(10-12)tCa>tTa	p.S4L	ODF2_ENST00000448249.3_Intron|ODF2_ENST00000546203.1_Intron|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000372791.3_Missense_Mutation_p.S4L|ODF2_ENST00000303890.5_5'UTR|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000372796.4_Missense_Mutation_p.S4L|ODF2_ENST00000351030.3_Intron|ODF2_ENST00000372814.3_Intron	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	4					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	p.S4L(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ATGTCTGCCTCATCCTCAGGC	0.662000													13	149					0	0	0.003163	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764365	138764365	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr7:138764365G>A	ENST00000242351.5	-	4	1638	c.1322C>T	c.(1321-1323)tCt>tTt	p.S441F	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S441F|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.S441F	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	441					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	p.S441F(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GGATCTGGTAGAAGTTATATC	0.458000													8	119					0	0	0.004482	0	0
AGL	178	broad.mit.edu	37	1	100346852	100346852	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr1:100346852C>T	ENST00000294724.4	+	16	2484	c.2006C>T	c.(2005-2007)tCa>tTa	p.S669L	AGL_ENST00000370163.3_Missense_Mutation_p.S669L|AGL_ENST00000361302.3_Missense_Mutation_p.S653L|AGL_ENST00000361522.4_Missense_Mutation_p.S652L|AGL_ENST00000361915.3_Missense_Mutation_p.S669L|AGL_ENST00000370161.2_Missense_Mutation_p.S653L|AGL_ENST00000370165.3_Missense_Mutation_p.S669L	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	669					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	p.S669L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GTCCAGATTTCAGTGGTTTCT	0.358000													17	74					0	0	0.004007	0	0
EPX	8288	broad.mit.edu	37	17	56274464	56274464	+	Silent	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr17:56274464G>A	ENST00000225371.5	+	7	1076	c.966G>A	c.(964-966)tcG>tcA	p.S322S		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	322					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.S322S(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TCTCCCTCTCGCTGCGGCTCC	0.617000													22	102					0	0	0.002299	0	0
FREM1	158326	broad.mit.edu	37	9	14819377	14819377	+	Silent	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr9:14819377G>A	ENST00000380881.4	-	15	3219	c.2404C>T	c.(2404-2406)Cta>Tta	p.L802L	FREM1_ENST00000422223.2_Silent_p.L801L|FREM1_ENST00000380880.3_Silent_p.L801L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	801					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.L802L(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCAGAAATTAGAATGTGCTCT	0.463000													3	46					0	0	0.000248	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24981885	24981885	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr16:24981885G>A	ENST00000289968.6	-	4	284	c.215C>T	c.(214-216)aCa>aTa	p.T72I	ARHGAP17_ENST00000441763.2_Missense_Mutation_p.T72I|ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.T72I	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	72	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	p.T72I(2)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AGCAAGAGCTGTCAGAGGCAG	0.408000													39	157					0	0	0.004289	0	0
HIST1H2BO	8348	broad.mit.edu	37	6	27861501	27861501	+	Silent	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr6:27861501C>G	ENST00000303806.4	+	1	299	c.261C>G	c.(259-261)cgC>cgG	p.R87R		NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	87					nucleosome assembly	nucleosome|nucleus	DNA binding	p.R87R(1)									ACAACAAGCGCTCGACCATCA	0.627000													5	117					0	0	0.001168	0	0
CACNA1I	8911	broad.mit.edu	37	22	40015399	40015399	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr22:40015399C>G	ENST00000336649.4	+	6	567	c.567C>G	c.(565-567)atC>atG	p.I189M	CACNA1I_ENST00000401624.1_Missense_Mutation_p.I189M|CACNA1I_ENST00000407673.1_Missense_Mutation_p.I189M|CACNA1I_ENST00000404898.1_Missense_Mutation_p.I189M|CACNA1I_ENST00000402142.3_Missense_Mutation_p.I189M|CACNA1I_ENST00000400164.3_Missense_Mutation_p.I189M			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	189					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.I189M(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCAAAGCCATCAACCGCGTGC	0.617000													15	62					0	0	0.004990	0	0
SLC39A5	283375	broad.mit.edu	37	12	56630228	56630228	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr12:56630228C>T	ENST00000266980.4	+	7	1287	c.994C>T	c.(994-996)Ccg>Tcg	p.P332S	SLC39A5_ENST00000454355.2_Missense_Mutation_p.P332S	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	332					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	p.P331S(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAACTTGGATCCGGAGAATGG	0.542000													38	127					0	0	0.002522	0	0
SAP30BP	29115	broad.mit.edu	37	17	73663525	73663525	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr17:73663525G>C	ENST00000584667.1	+	1	330	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.E25Q	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	25					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.E25Q(1)		kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTCTGATGGCGAGGCTGGAAT	0.617000													4	81					0	0	0.000248	0	0
SOS1	6654	broad.mit.edu	37	2	39234206	39234206	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr2:39234206G>A	ENST00000426016.1	-	17	2725	c.2639C>T	c.(2638-2640)tCa>tTa	p.S880L	SOS1_ENST00000402219.2_Missense_Mutation_p.S880L|SOS1_ENST00000395038.2_Missense_Mutation_p.S880L			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	880	Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.S880L(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AACAGGTGATGAATTCATAGC	0.343000									Noonan syndrome				34	124					0	0	0.003271	0	0
SEMA3A	10371	broad.mit.edu	37	7	83636683	83636683	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr7:83636683G>T	ENST00000265362.3	-	10	1440	c.1126C>A	c.(1126-1128)Cca>Aca	p.P376T	SEMA3A_ENST00000436949.1_Missense_Mutation_p.P376T	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	376	Sema.				axon guidance	extracellular region|membrane	receptor activity	p.P376T(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CCTGGCCGTGGATAGGGGACT	0.418000													73	108					9.35569e-46	1.34426e-45	0.003610	1	0
GBA2	57704	broad.mit.edu	37	9	35739760	35739760	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr9:35739760C>G	ENST00000378094.4	-	9	1960	c.1447G>C	c.(1447-1449)Gaa>Caa	p.E483Q	GBA2_ENST00000378103.3_Missense_Mutation_p.E483Q|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.E489Q			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	483					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	p.E483Q(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AAGTATAGTTCATTGAACAGC	0.522000													6	67					0	0	0.001168	0	0
DBX1	120237	broad.mit.edu	37	11	20178619	20178619	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr11:20178619C>G	ENST00000524983.2	-	3	924	c.636G>C	c.(634-636)aaG>aaC	p.K212N	DBX1_ENST00000227256.3_Missense_Mutation_p.K212N			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	212					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K212N(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CCGCCAGCTTCTTGCGGTCGG	0.667000													16	40					0	0	0.004990	0	0
KIF6	221458	broad.mit.edu	37	6	39581035	39581035	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr6:39581035T>A	ENST00000287152.7	-	6	663	c.569A>T	c.(568-570)cAt>cTt	p.H190L	KIF6_ENST00000538893.1_Missense_Mutation_p.H190L|KIF6_ENST00000373216.3_Missense_Mutation_p.H190L|KIF6_ENST00000373215.3_Missense_Mutation_p.H190L|KIF6_ENST00000373213.4_Missense_Mutation_p.H29L	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	190	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	p.H190L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGTTGCCTGATGGAGAGTCAA	0.418000													5	72					0	0	0.001984	0	0
GDF10	2662	broad.mit.edu	37	10	48429252	48429252	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr10:48429252C>T	ENST00000224605.2	-	2	899	c.634G>A	c.(634-636)Gcg>Acg	p.A212T		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	212					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.A212T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CGGCGGGCCGCCTTGACGATG	0.726000													4	23					0	0	0.000248	0	0
LGR5	8549	broad.mit.edu	37	12	71977945	71977945	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr12:71977945G>A	ENST00000266674.5	+	18	2466	c.2155G>A	c.(2155-2157)Gag>Aag	p.E719K	LGR5_ENST00000540815.2_Missense_Mutation_p.E695K|LGR5_ENST00000536515.1_Missense_Mutation_p.E647K			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	719						integral to plasma membrane	protein-hormone receptor activity	p.E719K(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GCCTTTTGGGGAGCCCAGCAC	0.567000													20	238					0	0	0.001523	0	0
SWT1	54823	broad.mit.edu	37	1	185153948	185153948	+	Silent	SNP	A	A	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr1:185153948A>G	ENST00000367500.4	+	9	1479	c.1314A>G	c.(1312-1314)ctA>ctG	p.L438L	SWT1_ENST00000367501.3_Silent_p.L438L	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	438	PINc.							p.L438L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AAGGAAAACTACTAAAACGTG	0.363000													22	88					0	0	0.004656	0	0
OR6C68	403284	broad.mit.edu	37	12	55886877	55886877	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr12:55886877G>A	ENST00000379662.1	+	1	731	c.731G>A	c.(730-732)tGt>tAt	p.C244Y	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000548615.1_Missense_Mutation_p.C239Y|RP11-110A12.2_ENST00000554049.1_RNA			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C244Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TTTTCTACCTGTTCTTCACAT	0.343000													11	55					0	0	0.000673	0	0
CFTR	1080	broad.mit.edu	37	7	117234984	117234984	+	Splice_Site	SNP	G	G	C			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr7:117234984G>C	ENST00000003084.6	+	15	2623	c.2490_splice	c.e15-1	p.E831_splice	CFTR_ENST00000454343.1_Splice_Site_p.E770_splice	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	831					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	p.E831Q(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTTTATTCAGGAGTGCTTTTT	0.313000									Cystic Fibrosis				6	52					0	0	0.004482	0	0
IKZF2	22807	broad.mit.edu	37	2	213886806	213886806	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr2:213886806C>T	ENST00000457361.1	-	6	791	c.623G>A	c.(622-624)cGc>cAc	p.R208H	IKZF2_ENST00000374327.4_Missense_Mutation_p.R63H|IKZF2_ENST00000434687.1_Missense_Mutation_p.R208H|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000342002.2_Missense_Mutation_p.R214H|IKZF2_ENST00000413091.3_Missense_Mutation_p.R208H|IKZF2_ENST00000421754.2_Missense_Mutation_p.R182H|IKZF2_ENST00000374319.4_Missense_Mutation_p.R182H	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R208H(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CAGTGAACTGCGCTGCTTGTA	0.502000													15	74					0	0	0.004007	0	0
IMMT	10989	broad.mit.edu	37	2	86406604	86406604	+	Silent	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr2:86406604C>T	ENST00000410111.3	-	3	648	c.261G>A	c.(259-261)gaG>gaA	p.E87E	IMMT_ENST00000254636.5_5'UTR|IMMT_ENST00000449247.2_Silent_p.E87E|IMMT_ENST00000442664.2_Silent_p.E87E|IMMT_ENST00000409051.2_Silent_p.E87E	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	87						integral to mitochondrial inner membrane	protein binding	p.E87E(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAAGAACCATCTCGAAGAGTT	0.383000													5	34					0	0	0.000602	0	0
PCLO	27445	broad.mit.edu	37	7	82578974	82578974	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr7:82578974C>T	ENST00000423517.2	-	6	11267	c.10930G>A	c.(10930-10932)Gaa>Aaa	p.E3644K	PCLO_ENST00000437081.1_Missense_Mutation_p.E364K|PCLO_ENST00000333891.8_Missense_Mutation_p.E3644K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3575					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.E3644K(2)|p.E3575K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGGGTTTTTCATAAGGTACA	0.488000													20	261					0	0	0.001523	0	0
GP2	2813	broad.mit.edu	37	16	20335277	20335277	+	Silent	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr16:20335277G>A	ENST00000302555.5	-	3	545	c.396C>T	c.(394-396)atC>atT	p.I132I	GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000381362.4_Silent_p.I132I			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	132						anchored to membrane|extracellular region|plasma membrane		p.I132I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGTGGTTGGTGATGCCATCCC	0.597000													8	32					0	0	0.004482	0	0
SPEG	10290	broad.mit.edu	37	2	220355150	220355150	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr2:220355150C>T	ENST00000312358.7	+	37	9073	c.8941C>T	c.(8941-8943)Cga>Tga	p.R2981*	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2981	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.R2981*(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGGTGTTGTGCGAGCGTGCCG	0.657000													5	46					0	0	0.000602	0	0
IPO9	55705	broad.mit.edu	37	1	201824283	201824283	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr1:201824283G>C	ENST00000361565.4	+	9	1012	c.943G>C	c.(943-945)Gaa>Caa	p.E315Q		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	315					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TTACACAGAAGAAGTAGAAGA	0.348000													3	109					0	0	0.000248	0	0
NSD1	64324	broad.mit.edu	37	5	176636857	176636857	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr5:176636857C>G	ENST00000439151.2	+	5	1502	c.1457C>G	c.(1456-1458)tCt>tGt	p.S486C	NSD1_ENST00000347982.4_Missense_Mutation_p.S217C|NSD1_ENST00000361032.4_Missense_Mutation_p.S383C|NSD1_ENST00000354179.4_Missense_Mutation_p.S217C	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	486					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	p.S486C(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		TCTGAACATTCTGCAGATGAG	0.408000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			6	84					0	0	0.001984	0	0
CFTR	1080	broad.mit.edu	37	7	117235031	117235031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr7:117235031G>A	ENST00000003084.6	+	15	2670	c.2538G>A	c.(2536-2538)tgG>tgA	p.W846*	CFTR_ENST00000454343.1_Nonsense_Mutation_p.W785*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	846					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	p.W846*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGACTACATGGAACACATACC	0.358000									Cystic Fibrosis				6	67					0	0	0.001168	0	0
VPS13B	157680	broad.mit.edu	37	8	100026130	100026130	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr8:100026130C>A	ENST00000395996.1	+	2	225	c.114C>A	c.(112-114)agC>agA	p.S38R	VPS13B_ENST00000358544.2_Missense_Mutation_p.S38R|VPS13B_ENST00000441350.2_Missense_Mutation_p.S38R|VPS13B_ENST00000357162.2_Missense_Mutation_p.S38R|VPS13B_ENST00000355155.1_Missense_Mutation_p.S38R			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	38					protein transport			p.S38R(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGTACTCAGCAAGCTCGAGT	0.408000													30	138					9.65021e-13	1.35799e-12	0.002096	1	0
UBE3D	90025	broad.mit.edu	37	6	83767714	83767714	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr6:83767714C>T	ENST00000369747.3	-	2	227	c.105G>A	c.(103-105)atG>atA	p.M35I		NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN	ubiquitin protein ligase E3D	35						cytoplasm	ligase activity	p.M35I(1)									TGGAAATATTCATGGGCATAC	0.408000											OREG0017549	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	40					0	0	0.001168	0	0
FAM120A	23196	broad.mit.edu	37	9	96259777	96259777	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr9:96259777C>T	ENST00000277165.6	+	4	1023	c.829C>T	c.(829-831)Cca>Tca	p.P277S	FAM120A_ENST00000375389.3_Missense_Mutation_p.P277S|FAM120A_ENST00000340893.4_Missense_Mutation_p.P277S|FAM120A_ENST00000333936.5_Missense_Mutation_p.P277S	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	277						cytoplasm|plasma membrane	RNA binding	p.P277S(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCTGGTCTTGCCACCTTGCGA	0.502000													4	82					0	0	0.000248	0	0
CARKD	55739	broad.mit.edu	37	13	111290626	111290626	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr13:111290626G>C	ENST00000309957.2	+	10	945	c.931G>C	c.(931-933)Gag>Cag	p.E311Q	CARKD_ENST00000458711.2_Intron|CARKD_ENST00000470164.2_Intron|CARKD_ENST00000424185.2_Intron	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	0	YjeF C-terminal.							p.E311Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						TTGGGGTCCTGAGATTGAAAC	0.562000													27	231					0	0	0.005443	0	0
EVC	2121	broad.mit.edu	37	4	5800411	5800411	+	Silent	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr4:5800411G>A	ENST00000382674.2	+	15	2380	c.2196G>A	c.(2194-2196)gtG>gtA	p.V732V	EVC_ENST00000515113.1_3'UTR|EVC_ENST00000264956.6_Silent_p.V732V			P57679	EVC_HUMAN	Ellis van Creveld syndrome	732					muscle organ development	integral to membrane		p.V732V(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCCAGGAGGTGGGGCAGCTTC	0.677000													3	12					0	0	0.004672	0	0
ITPR2	3709	broad.mit.edu	37	12	26629850	26629850	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr12:26629850C>G	ENST00000381340.3	-	44	6630	c.6214G>C	c.(6214-6216)Gaa>Caa	p.E2072Q		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2072					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.E2072*(1)|p.E2072Q(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CTTACCAGTTCTCTGGGTCTC	0.343000													8	136					0	0	0.003080	0	0
NFIA	4774	broad.mit.edu	37	1	61554263	61554263	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr1:61554263C>G	ENST00000403491.3	+	2	954	c.470C>G	c.(469-471)tCt>tGt	p.S157C	NFIA_ENST00000407417.3_Missense_Mutation_p.S149C|NFIA_ENST00000485903.2_Missense_Mutation_p.S157C|NFIA_ENST00000371185.2_Missense_Mutation_p.S157C|NFIA_ENST00000479364.1_Intron|NFIA_ENST00000371187.3_Missense_Mutation_p.S157C|NFIA_ENST00000371189.4_Missense_Mutation_p.S202C|NFIA_ENST00000371191.1_Missense_Mutation_p.S180C|NFIA_ENST00000371184.2_Missense_Mutation_p.S157C	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	157					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.S202C(1)|p.S157C(1)	NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						CCACAATGCTCTAATCCAGGG	0.453000													3	100					0	0	0.004672	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1339046	1339046	+	Silent	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr5:1339046C>T	ENST00000320895.5	-	4	785	c.528G>A	c.(526-528)ctG>ctA	p.L176L	CLPTM1L_ENST00000320927.6_Silent_p.L176L|CLPTM1L_ENST00000507807.1_Silent_p.L43L	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	176					apoptosis	integral to membrane		p.L176L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CCATCACGTTCAGCGCCAGCC	0.607000													10	65					0	0	0.000978	0	0
IKBKB	3551	broad.mit.edu	37	8	42163879	42163879	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr8:42163879G>C	ENST00000520810.1	+	7	682	c.496G>C	c.(496-498)Gac>Cac	p.D166H	IKBKB_ENST00000416505.2_Missense_Mutation_p.D107H|IKBKB_ENST00000520835.1_Missense_Mutation_p.D164H|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000519735.1_Missense_Mutation_p.D166H	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	166	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	p.D166H(1)		breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CAAAATTATTGACCTAGGATA	0.463000													4	47					0	0	0.000248	0	0
ZNF398	57541	broad.mit.edu	37	7	148863295	148863295	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr7:148863295G>A	ENST00000475153.1	+	3	733	c.466G>A	c.(466-468)Gag>Aag	p.E156K	ZNF398_ENST00000540950.1_Missense_Mutation_p.E161K|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000485111.1_3'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	156	KRAB.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E156K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TTCCACTCCAGAGTGGGAAAA	0.408000													32	89					0	0	0.001786	0	0
SYNE1	23345	broad.mit.edu	37	6	152746553	152746553	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr6:152746553C>T	ENST00000367255.5	-	39	5831	c.5230G>A	c.(5230-5232)Gag>Aag	p.E1744K	SYNE1_ENST00000265368.4_Missense_Mutation_p.E1744K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1751K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1751K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1781K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1744					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.E1744K(4)|p.E1751K(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCATCTCTCATCCAACTGC	0.318000										HNSCC(10;0.0054)			11	104					0	0	0.000978	0	0
ROBO2	6092	broad.mit.edu	37	3	77637907	77637907	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr3:77637907C>T	ENST00000461745.1	+	17	3406	c.2506C>T	c.(2506-2508)Cgc>Tgc	p.R836C	ROBO2_ENST00000332191.8_Missense_Mutation_p.R836C|ROBO2_ENST00000487694.3_Missense_Mutation_p.R852C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	836					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.R836C(1)|p.R852C(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CATAGGGAGACGCAATGAAGT	0.343000													8	32					0	0	0.004482	0	0
ABCG5	64240	broad.mit.edu	37	2	44051514	44051514	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr2:44051514C>G	ENST00000405322.1	-	5	1345	c.449G>C	c.(448-450)aGa>aCa	p.R150T	ABCG5_ENST00000260645.1_Missense_Mutation_p.R321T|ABCG5_ENST00000543989.1_Intron			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	321	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	p.R321T(1)		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)				CATCTGGACTCTCTTGGAGGT	0.373000													23	187					0	0	0.006320	0	0
CFB	629	broad.mit.edu	37	6	31901414	31901414	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr6:31901414C>T	ENST00000556679.1	+	3	339	c.284C>T	c.(283-285)tCa>tTa	p.S95L	CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Missense_Mutation_p.S34L|C2_ENST00000299367.5_Missense_Mutation_p.S157L|CFB_ENST00000456570.1_Missense_Mutation_p.S95L|C2_ENST00000469372.1_5'UTR|C2_ENST00000442278.2_Missense_Mutation_p.S25L|C2_ENST00000418949.2_Missense_Mutation_p.S157L			P00751	CFAB_HUMAN	complement factor B	171	Sushi 1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	p.S157L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCAGGCATTTCACTGGGCGCA	0.627000													12	42					0	0	0.002450	0	0
TMF1	7110	broad.mit.edu	37	3	69073259	69073259	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr3:69073259C>T	ENST00000543976.1	-	16	3340	c.3094G>A	c.(3094-3096)Gat>Aat	p.D1032N	CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.D1029N	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	1029					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	p.D1029N(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCAAGTTCATCATTTTGATTT	0.323000													13	124					0	0	0.001368	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102495993	102495993	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr14:102495993G>A	ENST00000360184.4	+	49	9750	c.9586G>A	c.(9586-9588)Gag>Aag	p.E3196K		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3196	Stalk (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.E3196K(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGAGCTGGAGGAGCAGCAGAT	0.567000													7	30					0	0	0.001984	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86325015	86325015	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr6:86325015C>G	ENST00000355238.6	-	11	1537	c.1331G>C	c.(1330-1332)aGa>aCa	p.R444T	SYNCRIP_ENST00000369622.3_Missense_Mutation_p.R444T	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	444	Interaction with APOBEC1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	p.R444T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CCCTCGACCTCTTGTTGGAGG	0.348000													7	36					0	0	0.006214	0	0
ZNF189	7743	broad.mit.edu	37	9	104171293	104171293	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr9:104171293C>G	ENST00000374861.3	+	3	1485	c.1201C>G	c.(1201-1203)Ctt>Gtt	p.L401V	ZNF189_ENST00000259395.4_Missense_Mutation_p.L373V|ZNF189_ENST00000339664.2_Missense_Mutation_p.L415V	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	415					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L415V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAGCTCAGGTCTTATTCAGCA	0.413000													18	61					0	0	0.004990	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58007229	58007229	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr12:58007229G>T	ENST00000286494.4	+	4	875	c.415G>T	c.(415-417)Gaa>Taa	p.E139*	AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Nonsense_Mutation_p.E178*	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	139					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	p.E139*(1)|p.E178*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CCAGCCACCTGAAGAGGAGAC	0.537000													10	371					6.40141e-05	8.73793e-05	0.000978	1	0
CHD7	55636	broad.mit.edu	37	8	61754493	61754493	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr8:61754493G>A	ENST00000423902.2	+	21	5211	c.4732G>A	c.(4732-4734)Gac>Aac	p.D1578N	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1578					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	p.D1578N(2)		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)			GGAGTTCTCAGACTTGGAAAG	0.463000													4	23					0	0	0.000248	0	0
MOV10L1	54456	broad.mit.edu	37	22	50553671	50553671	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr22:50553671G>T	ENST00000262794.5	+	8	1338	c.1255G>T	c.(1255-1257)Gga>Tga	p.G419*	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Nonsense_Mutation_p.G419*|MOV10L1_ENST00000540615.1_Nonsense_Mutation_p.G399*|MOV10L1_ENST00000545383.1_Nonsense_Mutation_p.G419*	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	419					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	p.G419*(1)|p.G399*(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CATCTGTGACGGAAAGTAAGG	0.498000													24	133					2.79863e-10	3.91809e-10	0.004656	1	0
CDHR3	222256	broad.mit.edu	37	7	105664964	105664964	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr7:105664964C>T	ENST00000343407.5	+	13	1678	c.721C>T	c.(721-723)Cca>Tca	p.P241S	CDHR3_ENST00000317716.9_Silent_p.I738I|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000542731.1_Silent_p.I738I|CDHR3_ENST00000478080.1_Silent_p.I650I			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	0	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I738I(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CCAAAGCCATCCACAGACACT	0.542000													7	51					0	0	0.003080	0	0
ABCG5	64240	broad.mit.edu	37	2	44051398	44051398	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr2:44051398C>G	ENST00000405322.1	-	5	1461	c.565G>C	c.(565-567)Gat>Cat	p.D189H	ABCG5_ENST00000260645.1_Missense_Mutation_p.D360H|ABCG5_ENST00000543989.1_Intron			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	360	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	p.D360H(1)		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)				CCAGGAGAATCTTTGGTTTTG	0.388000													21	128					0	0	0.002780	0	0
NLRP3	114548	broad.mit.edu	37	1	247588432	247588432	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr1:247588432G>A	ENST00000366497.2	+	4	2467	c.1687G>A	c.(1687-1689)Gaa>Aaa	p.E563K	NLRP3_ENST00000366496.2_Missense_Mutation_p.E563K|NLRP3_ENST00000391827.2_Missense_Mutation_p.E563K|NLRP3_ENST00000391828.3_Missense_Mutation_p.E563K|NLRP3_ENST00000336119.3_Missense_Mutation_p.E563K|NLRP3_ENST00000348069.2_Missense_Mutation_p.E563K|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	563					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.E563K(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGTCCTTCTGGAAAACTATGG	0.478000													5	36					0	0	0.000602	0	0
KAT6A	7994	broad.mit.edu	37	8	41791408	41791408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr8:41791408G>A	ENST00000396930.3	-	18	4873	c.4330C>T	c.(4330-4332)Cag>Tag	p.Q1444*	KAT6A_ENST00000265713.2_Nonsense_Mutation_p.Q1444*|KAT6A_ENST00000406337.1_Nonsense_Mutation_p.Q1444*	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1444					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	p.Q1444*(1)									TCACAGTCCTGGTAGGCGCCC	0.532000													8	117					0	0	0.006214	0	0
MET	4233	broad.mit.edu	37	7	116412044	116412044	+	Splice_Site	SNP	G	G	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr7:116412044G>T	ENST00000397752.3	+	14	3228		c.e14+1		MET_ENST00000318493.6_Splice_Site	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene						axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.982_1028del47(4)|p.?(3)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTCCAGAAGGTATATTTCAG	0.343000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				22	46					2.27525e-19	3.23513e-19	0.003954	1	0
DHH	50846	broad.mit.edu	37	12	49485111	49485111	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr12:49485111C>T	ENST00000266991.2	-	2	671	c.365G>A	c.(364-366)cGc>cAc	p.R122H	RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	122					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	p.R122H(1)		breast(1)|large_intestine(3)|lung(4)	8						CACTCGTAGGCGCACTCCGGG	0.607000													8	101					0	0	0.003080	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102449530	102449530	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr14:102449530G>A	ENST00000360184.4	+	6	1300	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	379	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.R379H(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGGGCACTGCGTTTGGTGGAG	0.403000													15	58					0	0	0.002450	0	0
PROK2	60675	broad.mit.edu	37	3	71830623	71830623	+	Missense_Mutation	SNP	G	G	A	rs121434272		TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr3:71830623G>A	ENST00000353065.3	-	2	370	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C	PROK2_ENST00000295619.3_Missense_Mutation_p.R73C	NM_021935.3	NP_068754.1	Q9HC23	PROK2_HUMAN	prokineticin 2	73			R -> C (in KAL4).		activation of MAPK activity|angiogenesis|anti-apoptosis|cell proliferation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|neuropeptide signaling pathway|positive regulation of smooth muscle contraction|sensory perception of pain|spermatogenesis	extracellular region	G-protein-coupled receptor binding	p.R73C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.89e-05)|Epithelial(33;0.000173)|LUSC - Lung squamous cell carcinoma(21;0.00168)|Lung(16;0.00306)		CTAACTTTACGAGTCAGTGGA	0.463000													12	135					0	0	0.002450	0	0
TSPAN31	6302	broad.mit.edu	37	12	58140859	58140859	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr12:58140859C>T	ENST00000547992.1	+	3	383	c.251C>T	c.(250-252)tCa>tTa	p.S84L	TSPAN31_ENST00000547472.1_Missense_Mutation_p.S85L|TSPAN31_ENST00000257910.3_Missense_Mutation_p.S168L			Q12999	TSN31_HUMAN	tetraspanin 31	168					positive regulation of cell proliferation	integral to plasma membrane|membrane fraction		p.S168L(1)		endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CTTAAGCATTCAGACGAAGCC	0.443000													12	366					0	0	0.002450	0	0
FAM71B	153745	broad.mit.edu	37	5	156589882	156589882	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr5:156589882G>T	ENST00000302938.4	-	2	1489	c.1394C>A	c.(1393-1395)tCt>tAt	p.S465Y		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	465						nucleus		p.S465Y(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCGGTGGGAAGACGCTTTCTG	0.512000													29	191					1.55811e-20	2.22704e-20	0.001512	1	0
UNC79	57578	broad.mit.edu	37	14	94089157	94089157	+	Silent	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr14:94089157C>T	ENST00000553484.1	+	31	5798	c.5644C>T	c.(5644-5646)Ctg>Ttg	p.L1882L	UNC79_ENST00000256339.4_Silent_p.L1683L|UNC79_ENST00000393151.2_Silent_p.L1860L|UNC79_ENST00000555664.1_Silent_p.L1860L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1860						integral to membrane		p.L1683L(1)|p.L1882L(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTTCAACATTCTGGACAAACT	0.453000													9	80					0	0	0.004482	0	0
CDH4	1002	broad.mit.edu	37	20	59829940	59829940	+	Missense_Mutation	SNP	A	A	T	rs148680733		TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr20:59829940A>T	ENST00000360469.5	+	2	204	c.116A>T	c.(115-117)gAt>gTt	p.D39V		NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	39					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCTGAAGATGATTACACGGCA	0.458000													11	193					0	0	0.001855	0	0
DNAH8	1769	broad.mit.edu	37	6	38905910	38905910	+	Silent	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr6:38905910C>G	ENST00000359357.3	+	76	11327	c.11073C>G	c.(11071-11073)ctC>ctG	p.L3691L	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Silent_p.L3908L|DNAH8_ENST00000441566.1_Silent_p.L3655L					dynein, axonemal, heavy chain 8									p.L3691L(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAAGCATCCTCTACTTCCTCA	0.522000													7	54					0	0	0.001984	0	0
STK11IP	114790	broad.mit.edu	37	2	220480797	220480797	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr2:220480797G>A	ENST00000456909.1	+	25	3239	c.3149G>A	c.(3148-3150)cGt>cAt	p.R1050H	STK11IP_ENST00000295641.10_Missense_Mutation_p.R1061H			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	1061					protein localization	cytoplasm	protein kinase binding	p.R1061H(1)|p.R1050H(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGGCACTCCGTGTGGTGTGT	0.617000													6	28					0	0	0.001984	0	0
SMOC1	64093	broad.mit.edu	37	14	70477552	70477552	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr14:70477552C>A	ENST00000381280.4	+	8	999	c.746C>A	c.(745-747)cCt>cAt	p.P249H	SMOC1_ENST00000361956.3_Missense_Mutation_p.P249H	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	249	Thyroglobulin type-1 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.P249H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ATTGTCATCCCTGAATGTGCC	0.592000													6	171					0.000157383	0.000212701	0.003080	1	0
PTGER4	5734	broad.mit.edu	37	5	40692192	40692192	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr5:40692192G>C	ENST00000302472.3	+	3	2203	c.1179G>C	c.(1177-1179)caG>caC	p.Q393H		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	393					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	p.Q393H(1)		breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GTACATCTCAGACCCTCCTGC	0.572000													4	61					0	0	0.000248	0	0
SNX14	57231	broad.mit.edu	37	6	86248583	86248583	+	Splice_Site	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr6:86248583C>G	ENST00000314673.3	-	16	1625		c.e16-1		SNX14_ENST00000369627.2_Intron|SNX14_ENST00000505648.1_Splice_Site|SNX14_ENST00000508980.1_Intron|SNX14_ENST00000346348.3_Intron|SNX14_ENST00000513865.1_Intron	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14						cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	p.?(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TAGGCTACCTCTGCAATAACA	0.299000													3	55					0	0	0.000248	0	0
ITPR3	3710	broad.mit.edu	37	6	33655052	33655052	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr6:33655052C>T	ENST00000374316.5	+	46	7185	c.6125C>T	c.(6124-6126)tCg>tTg	p.S2042L	ITPR3_ENST00000605930.1_Missense_Mutation_p.S2042L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2042					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	p.S2042L(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CGTGAGAACTCGGAGGTGAGC	0.602000													10	21					0	0	0.001855	0	0
AKAP9	10142	broad.mit.edu	37	7	91729097	91729097	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr7:91729097G>A	ENST00000359028.2	+	44	11047	c.10822G>A	c.(10822-10824)Gaa>Aaa	p.E3608K	AKAP9_ENST00000358100.2_Missense_Mutation_p.E3554K|AKAP9_ENST00000356239.3_Missense_Mutation_p.E3604K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3608					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.E3604K(1)|p.E3608K(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCAACTGACTGAAGAGAAGAA	0.453000			T	BRAF	papillary thyroid								17	135					0	0	0.004007	0	0
MTO1	25821	broad.mit.edu	37	6	74189769	74189769	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr6:74189769C>G	ENST00000498286.1	+	6	1326	c.1049C>G	c.(1048-1050)tCt>tGt	p.S350C	MTO1_ENST00000415954.2_Missense_Mutation_p.S350C|MTO1_ENST00000370300.4_Missense_Mutation_p.S350C|MTO1_ENST00000370305.1_Missense_Mutation_p.S276C			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	350					tRNA processing	mitochondrion	flavin adenine dinucleotide binding	p.S350C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						CAGGGGTTATCTATGACGCTA	0.428000													10	45					0	0	0.006214	0	0
TPI1	7167	broad.mit.edu	37	12	6976727	6976727	+	Silent	SNP	C	C	T			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr12:6976727C>T	ENST00000229270.4	+	1	445	c.108C>T	c.(106-108)agC>agT	p.S36S	TPI1_ENST00000396705.5_5'UTR	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	0					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity	p.S36R(1)|p.S36S(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						TCGGCTCCAGCGCCATGGCGC	0.642000													5	20					0	0	0.001168	0	0
MGAM	8972	broad.mit.edu	37	7	141747587	141747587	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr7:141747587G>A	ENST00000475668.2	+	22	2555	c.2501G>A	c.(2500-2502)cGa>cAa	p.R834Q	MGAM_ENST00000549489.2_Missense_Mutation_p.R834Q			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	834	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R834Q(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCCCACAGTCGAAAGAACCCT	0.413000													6	56					0	0	0.003080	0	0
MDN1	23195	broad.mit.edu	37	6	90449994	90449994	+	Silent	SNP	G	G	A			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr6:90449994G>A	ENST00000369393.3	-	32	4667	c.4552C>T	c.(4552-4554)Cta>Tta	p.L1518L	MDN1_ENST00000428876.1_Silent_p.L1518L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1518					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.L1518L(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATGGTTGCTAGAATACGAAAT	0.413000													5	71					0	0	0.001168	0	0
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	4	---	---	---	---					
RBM45	129831	broad.mit.edu	37	2	178988920	178988920	+	Frame_Shift_Del	DEL	A	A	-			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr2:178988920delA	ENST00000286070.5	+	8	1227	c.1135delA	c.(1135-1137)aafs	p.K381fs		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	383					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	p.A382fs*7(2)|p.?(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TCCATCATGCAAAAAAAAAGC	0.353													9	134	---	---	---	---					
MBNL1	4154	broad.mit.edu	37	3	152177135	152177136	+	Splice_Site	DEL	GT	GT	-			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr3:152177135_152177136delGT	ENST00000282486.6	+	9	3027		c.e9+1		MBNL1_ENST00000324196.5_Splice_Site|MBNL1_ENST00000282488.7_Splice_Site|MBNL1_ENST00000545754.1_Splice_Site|MBNL1_ENST00000493459.1_Splice_Site|MBNL1_ENST00000463374.1_Splice_Site|MBNL1_ENST00000324210.5_Splice_Site|MBNL1_ENST00000498502.1_Splice_Site|MBNL1_ENST00000357472.3_Splice_Site|RP11-362A9.3_ENST00000463255.1_RNA|MBNL1_ENST00000485910.1_Splice_Site|MBNL1_ENST00000355460.2_Splice_Site			Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1						embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TCACTAAACAGTAAGTTCATTA	0.292													7	27	---	---	---	---					
HAS3	3038	broad.mit.edu	37	16	69148849	69148850	+	Frame_Shift_Ins	INS	-	-	C			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr16:69148849_69148850insC	ENST00000306560.1	+	4	1498_1499	c.1342_1343insC	c.(1342-1344)cagfs	p.Q448fs	HAS3_ENST00000569188.1_Frame_Shift_Ins_p.Q448fs|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	448					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CCTCTATATGTCCAGCCTTCTG	0.540													18	180	---	---	---	---					
KRT16P4	339244	broad.mit.edu	37	17	18334137	18334137	+	RNA	DEL	A	A	-			TCGA-49-6745-01A-11D-1855-08	TCGA-49-6745-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bfb97048-977b-4722-be8f-3dd37370ba30	bb980a3a-b200-4f14-a8e0-f7a5ec5a42e7	g.chr17:18334137delA	ENST00000580052.1	+	0	43																											GCCTCTTGGCAGGGGTGGGGC	0.567													4	5	---	---	---	---					
