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
SULT1A2	6799	broad.mit.edu	37	16	28606967	28606967	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr16:28606967T>A	ENST00000533150.1	-	2	1294	c.178A>T	c.(178-180)Atg>Ttg	p.M60L	SULT1A2_ENST00000395630.1_Missense_Mutation_p.M60L|SULT1A2_ENST00000335715.4_Missense_Mutation_p.M60L			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	60					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TGGTAGATCATGTCCAGAATC	0.597000													4	128					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49434727	49434727	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr12:49434727G>A	ENST00000301067.7	-	31	6825	c.6826C>T	c.(6826-6828)Cca>Tca	p.P2276S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCAAAAGGTGGGGGCGAGAGC	0.622000													34	46					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39467017	39467017	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr8:39467017A>T	ENST00000265707.5	+	5	326	c.281A>T	c.(280-282)tAc>tTc	p.Y94F	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000520772.1_Missense_Mutation_p.Y94F|ADAM18_ENST00000379866.1_Missense_Mutation_p.Y94F	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	94					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATTGCCATTACCAAGGATAT	0.323000													16	62					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155458593	155458593	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr6:155458593C>A	ENST00000461783.3	+	7	2750	c.1477C>A	c.(1477-1479)Ctg>Atg	p.L493M	TIAM2_ENST00000456144.1_Missense_Mutation_p.L493M|TIAM2_ENST00000529824.2_Missense_Mutation_p.L493M|TIAM2_ENST00000318981.5_Missense_Mutation_p.L493M|TIAM2_ENST00000360366.4_Missense_Mutation_p.L493M|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	493					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ACTCAGCTCTCTGGAACAGCT	0.527000													26	123					2.61193e-14	3.93136e-14	1	1	0
PLEC	5339	broad.mit.edu	37	8	144991090	144991090	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr8:144991090C>T	ENST00000322810.4	-	32	13479	c.13310G>A	c.(13309-13311)cGg>cAg	p.R4437Q	PLEC_ENST00000436759.2_Missense_Mutation_p.R4327Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R4278Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R4286Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R4323Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R4304Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R4300Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R4268Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R4300Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4437	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACCAGGTTCCGGTGCATGGC	0.677000													5	57					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216622	111216622	+	Silent	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr1:111216622C>A	ENST00000369769.2	-	1	1033	c.810G>T	c.(808-810)tcG>tcT	p.S270S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	270						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGAGTCCTGCGACGTCGAGG	0.622000													17	76					1.99824e-07	2.45162e-07	1	1	0
FAM3D	131177	broad.mit.edu	37	3	58639474	58639474	+	Silent	SNP	T	T	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr3:58639474T>A	ENST00000358781.2	-	3	358	c.48A>T	c.(46-48)atA>atT	p.I16I		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	16					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		ATGTCGTGACTATGGCAAAGA	0.567000													27	102					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361635	105361635	+	Silent	SNP	G	G	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr8:105361635G>A	ENST00000297581.2	+	2	904	c.855G>A	c.(853-855)ccG>ccA	p.P285P	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	285					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CTTTCTGGCCGACTCCTAAAG	0.478000													4	87					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26686972	26686972	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr2:26686972G>T	ENST00000272371.2	-	40	5089	c.4963C>A	c.(4963-4965)Cag>Aag	p.Q1655K	OTOF_ENST00000338581.6_Missense_Mutation_p.Q888K|OTOF_ENST00000402415.3_Missense_Mutation_p.Q965K|OTOF_ENST00000403946.3_Missense_Mutation_p.Q1655K|OTOF_ENST00000339598.3_Missense_Mutation_p.Q888K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1655					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTTCCTCTGACCTGTGGGT	0.627000													12	81					0.00316338	0.00342114	1	1	0
TMEM89	440955	broad.mit.edu	37	3	48659116	48659116	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr3:48659116C>A	ENST00000330862.3	-	1	172	c.74G>T	c.(73-75)aGa>aTa	p.R25I		NM_001008269.1	NP_001008270.1	A2RUT3	TMM89_HUMAN	transmembrane protein 89	25						integral to membrane				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCAGAGGGGTCTCGACCAGGC	0.662000													18	55					8.10497e-08	1.02011e-07	1	1	0
FDX1L	112812	broad.mit.edu	37	19	10421212	10421212	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr19:10421212T>A	ENST00000393708.3	-	5	520	c.502A>T	c.(502-504)Aag>Tag	p.K168*	CTD-2369P2.10_ENST00000452032.2_3'UTR|FDX1L_ENST00000494368.1_Nonsense_Mutation_p.K33*|FDX1L_ENST00000492239.1_5'UTR|FDX1L_ENST00000541276.1_3'UTR	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	168	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			CTGGTGATCTTGGGCAGGGTG	0.602000													7	67					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625391	140625391	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr5:140625391G>A	ENST00000231173.3	+	1	245	c.245G>A	c.(244-246)gGg>gAg	p.G82E		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		82	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCAGACCGGGCAGTTGATA	0.527000													11	70					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55697831	55697831	+	Splice_Site	SNP	C	C	A	rs74901631	by1000genomes	TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr19:55697831C>A	ENST00000376350.3	-	15	2666		c.e15+1		PTPRH_ENST00000263434.5_Splice_Site	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H						apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CACGACCTTACGGGCATGAAG	0.587000													26	80					5.45727e-16	8.47618e-16	1	1	0
PARP4	143	broad.mit.edu	37	13	25023877	25023877	+	Silent	SNP	G	G	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr13:25023877G>A	ENST00000381989.3	-	25	3198	c.3093C>T	c.(3091-3093)tcC>tcT	p.S1031S		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1031	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AACTATGCTTGGATTTTGCAT	0.333000													17	82					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22179193	22179193	+	Splice_Site	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr1:22179193C>A	ENST00000374695.3	-	52	6803	c.6724_splice	c.e52+1	p.G2242_splice	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2242	Ig-like C2-type 7.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGTCACTCACCAGGGATGACA	0.637000													27	161					1.88708e-17	2.99472e-17	1	1	0
ATP11B	23200	broad.mit.edu	37	3	182584182	182584182	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr3:182584182T>C	ENST00000323116.5	+	14	1830	c.1570T>C	c.(1570-1572)Tac>Cac	p.Y524H		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	524					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			GCAGTTGGAGTACTATGCATC	0.433000													11	127					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223178305	223178305	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr1:223178305A>C	ENST00000284476.6	+	8	3730	c.3566A>C	c.(3565-3567)cAt>cCt	p.H1189P		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1189					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GAACTGGAGCATGAGTTTTAT	0.453000													11	55					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110498976	110498976	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr8:110498976C>A	ENST00000378402.5	+	59	9910	c.9806C>A	c.(9805-9807)cCc>cAc	p.P3269H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3269					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAAGATTACCCCGGTTGGTCT	0.423000										HNSCC(38;0.096)			41	244					1.00953e-15	1.55149e-15	1	1	0
ADCYAP1R1	117	broad.mit.edu	37	7	31123774	31123774	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr7:31123774G>T	ENST00000304166.4	+	7	636	c.347G>T	c.(346-348)cGg>cTg	p.R116L	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.R116L|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.R116L|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.R95L	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	116					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTGGTGAGCCGGAACTGCACG	0.483000													11	68					6.72482e-11	9.44062e-11	1	1	0
ENPP1	5167	broad.mit.edu	37	6	132211538	132211538	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr6:132211538A>G	ENST00000360971.2	+	25	2685	c.2665A>G	c.(2665-2667)Atc>Gtc	p.I889V		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	889	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CAGAGCACGGATCACAGATGT	0.383000													13	105					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212295790	212295790	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr2:212295790A>T	ENST00000342788.4	-	21	2833	c.2523T>A	c.(2521-2523)caT>caA	p.H841Q	ERBB4_ENST00000436443.1_Missense_Mutation_p.H841Q|ERBB4_ENST00000402597.1_Missense_Mutation_p.H831Q	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	841	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CCAAATCCCGATGAACGAGTC	0.398000										TSP Lung(8;0.080)			9	128					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101777044	101777044	+	Silent	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr12:101777044C>A	ENST00000261637.4	+	59	8056	c.7882C>A	c.(7882-7884)Cgg>Agg	p.R2628R		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2628					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.R2628W(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GAAGCTGTCCCGGATTGCAAA	0.502000													3	70					1	1	1	1	0
ANO1	55107	broad.mit.edu	37	11	69933926	69933926	+	Silent	SNP	G	G	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr11:69933926G>T	ENST00000355303.5	+	2	482	c.177G>T	c.(175-177)cgG>cgT	p.R59R	ANO1_ENST00000316296.5_Silent_p.R31R|ANO1_ENST00000398543.2_5'UTR|ANO1_ENST00000530676.1_5'UTR|ANO1_ENST00000538023.1_Silent_p.R59R	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	59					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GGGACGGCCGGCGCAAGGTGG	0.597000													7	25					0.0381472	0.0395	1	1	0
ZNF749	388567	broad.mit.edu	37	19	57956104	57956104	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr19:57956104G>C	ENST00000334181.4	+	3	1838	c.1588G>C	c.(1588-1590)Gag>Cag	p.E530Q	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AGTTCAGCATGAGAAAATCCA	0.448000													3	88					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155776235	155776235	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr6:155776235A>G	ENST00000159060.2	-	2	179	c.77T>C	c.(76-78)cTg>cCg	p.L26P		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	26							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GTCAATAAACAGATAAAAATT	0.343000													12	41					0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86951243	86951243	+	Splice_Site	SNP	C	C	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr1:86951243C>T	ENST00000234701.3	+	7	1304	c.954_splice	c.e7+1	p.A318_splice	CLCA1_ENST00000394711.1_Splice_Site_p.A318_splice			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	318	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGAAGCATGGCGGTATGTTCA	0.468000													11	138					0	0	1	0	0
POU3F3	5455	broad.mit.edu	37	2	105472206	105472206	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr2:105472206G>T	ENST00000361360.2	+	1	238	c.238G>T	c.(238-240)Ggg>Tgg	p.G80W	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	80	Gly-rich.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTTCATGCAGGGGGCCATGGC	0.761000													5	17					0.000157383	0.000176754	1	1	0
ZNF526	116115	broad.mit.edu	37	19	42730535	42730535	+	Silent	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr19:42730535C>A	ENST00000301215.3	+	3	2205	c.1980C>A	c.(1978-1980)ggC>ggA	p.G660G		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	660					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GTGAAGCAGGCGGGCTCTTGC	0.597000													4	167					0.000602214	0.000661077	1	1	0
DNAH17	8632	broad.mit.edu	37	17	76566359	76566359	+	Silent	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr17:76566359C>A	ENST00000389840.5	-	7	1138	c.1014G>T	c.(1012-1014)ctG>ctT	p.L338L	DNAH17_ENST00000585328.1_Silent_p.L338L					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGAACTCCTGCAGGATGACGA	0.587000													3	9					0.004672	0.00497892	1	1	0
ITGAL	3683	broad.mit.edu	37	16	30532924	30532924	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr16:30532924G>C	ENST00000356798.6	+	31	3631	c.3451G>C	c.(3451-3453)Gat>Cat	p.D1151H	ITGAL_ENST00000433423.2_Missense_Mutation_p.D385H|ITGAL_ENST00000358164.5_Missense_Mutation_p.D1067H	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1151					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AGAGGCTGGGGATCCCGGCTG	0.597000													18	87					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55339695	55339695	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr11:55339695G>A	ENST00000314634.3	+	1	92	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R31H(2)|p.R31L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATTTTTTTGCGTCTCTACTTG	0.368000													8	111					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34529746	34529746	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr15:34529746C>A	ENST00000354181.3	-	22	3300	c.2808G>T	c.(2806-2808)tgG>tgT	p.W936C	SLC12A6_ENST00000558589.1_Missense_Mutation_p.W927C|SLC12A6_ENST00000451844.2_Missense_Mutation_p.W748C|SLC12A6_ENST00000560611.1_Missense_Mutation_p.W936C|SLC12A6_ENST00000458406.2_Missense_Mutation_p.W877C|SLC12A6_ENST00000290209.5_Missense_Mutation_p.W885C|SLC12A6_ENST00000560164.1_Missense_Mutation_p.W748C|SLC12A6_ENST00000558667.1_Missense_Mutation_p.W936C|SLC12A6_ENST00000397702.2_Missense_Mutation_p.W877C|SLC12A6_ENST00000397707.2_Missense_Mutation_p.W921C			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	936					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TGCACTTTCGCCACACCTGAG	0.418000													12	77					0.00316338	0.00342114	1	1	0
PAQR5	54852	broad.mit.edu	37	15	69696075	69696075	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr15:69696075A>T	ENST00000340965.3	+	9	1575	c.907A>T	c.(907-909)Atc>Ttc	p.I303F	RP11-253M7.1_ENST00000560539.1_RNA|RP11-253M7.1_ENST00000558617.1_RNA|PAQR5_ENST00000395407.2_Missense_Mutation_p.I303F|PAQR5_ENST00000561153.1_Missense_Mutation_p.I303F	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	303					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						ACTTCTGTGCATCATCTTCAG	0.458000													15	69					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66258810	66258810	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr11:66258810G>C	ENST00000532677.1	+	7	1212	c.811G>C	c.(811-813)Gcg>Ccg	p.A271P	DPP3_ENST00000531863.1_Missense_Mutation_p.A272P|DPP3_ENST00000360510.2_Missense_Mutation_p.A252P|DPP3_ENST00000530165.1_Missense_Mutation_p.A222P|DPP3_ENST00000453114.1_Missense_Mutation_p.A252P|DPP3_ENST00000541961.1_Missense_Mutation_p.A252P	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	252					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GGGGGACTACGCGCCCATCCT	0.627000											OREG0021109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	93					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77651370	77651370	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr3:77651370C>A	ENST00000461745.1	+	20	3764	c.2864C>A	c.(2863-2865)cCa>cAa	p.P955Q	ROBO2_ENST00000332191.8_Missense_Mutation_p.P955Q|ROBO2_ENST00000487694.3_Missense_Mutation_p.P971Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	955					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			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)		GATGTGCTGCCACCAGTTCCA	0.438000													14	80					6.94344e-10	9.38651e-10	1	1	0
PPP2R5B	5526	broad.mit.edu	37	11	64695896	64695896	+	Splice_Site	SNP	C	C	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr11:64695896C>T	ENST00000164133.2	+	6	1343	c.722_splice	c.e6+1	p.R241_splice		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	241					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CATCTTCCTCCGGTGAGTGGC	0.607000													4	126					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404299	20404299	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr14:20404299C>A	ENST00000285600.4	+	1	533	c.474C>A	c.(472-474)agC>agA	p.S158R		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATTCTGTGAGCCACTTGGCTT	0.478000													26	63					4.59853e-10	6.27463e-10	1	1	0
KIAA0368	23392	broad.mit.edu	37	9	114195577	114195577	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr9:114195577C>A	ENST00000259335.4	-	9	1317	c.1318G>T	c.(1318-1320)Gcc>Tcc	p.A440S	KIAA0368_ENST00000338205.5_Missense_Mutation_p.A262S	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TCACTAGAGGCAATCACCAAG	0.443000													4	104					0.184627	0.187192	1	1	0
SYCP2	10388	broad.mit.edu	37	20	58440889	58440889	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr20:58440889C>A	ENST00000357552.3	-	42	4577	c.4352G>T	c.(4351-4353)aGt>aTt	p.S1451I	SYCP2_ENST00000371001.2_Missense_Mutation_p.S1451I			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1451					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTGATATGCACTGAACTTCTG	0.219000													5	39					0.0381472	0.0395	1	1	0
NOX3	50508	broad.mit.edu	37	6	155776234	155776234	+	Silent	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr6:155776234C>A	ENST00000159060.2	-	2	180	c.78G>T	c.(76-78)ctG>ctT	p.L26L		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	26							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGTCAATAAACAGATAAAAAT	0.348000													12	42					2.32078e-09	3.08031e-09	1	1	0
IMPG1	3617	broad.mit.edu	37	6	76713658	76713658	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr6:76713658C>T	ENST00000369950.3	-	11	1334	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	382					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGGCAGTGATCCAGCAATTTC	0.393000													13	47					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74973502	74973502	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr14:74973502G>C	ENST00000261978.4	-	27	4318	c.3932C>G	c.(3931-3933)aCc>aGc	p.T1311S	LTBP2_ENST00000556690.1_Missense_Mutation_p.T1267S	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1311	Cys-rich.|EGF-like 15; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCCACACATGGTGTCGTTGGC	0.592000													9	50					0	0	1	0	0
PFKFB1	5207	broad.mit.edu	37	X	54989698	54989698	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chrX:54989698G>T	ENST00000375006.3	-	2	285	c.215C>A	c.(214-216)cCa>cAa	p.P72Q	PFKFB1_ENST00000545676.1_Intron|PFKFB1_ENST00000374992.2_Missense_Mutation_p.P72Q	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	72	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						ACCTTTAGTTGGTGTTCCTAT	0.448000													57	237					1.37693e-34	2.33758e-34	1	1	0
PAK7	57144	broad.mit.edu	37	20	9546720	9546720	+	Silent	SNP	C	C	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr20:9546720C>T	ENST00000378429.3	-	6	1848	c.1302G>A	c.(1300-1302)gcG>gcA	p.A434A	PAK7_ENST00000378423.1_Silent_p.A434A|PAK7_ENST00000353224.5_Silent_p.A434A	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	434	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GCTGCAGGGCCGCCCGAAACT	0.632000													26	87					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189068081	189068081	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr4:189068081C>T	ENST00000332517.3	+	6	1102	c.962C>T	c.(961-963)cCg>cTg	p.P321L	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	321	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.P321Q(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCCGACAACCCGGAAAGATTT	0.537000													31	80					0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84373239	84373239	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr1:84373239C>T	ENST00000260505.8	-	16	2269	c.1892G>A	c.(1891-1893)cGg>cAg	p.R631Q	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	631					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		AGAAGTTGGCCGTGACACAGA	0.507000													4	105					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32099639	32099639	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr10:32099639T>A	ENST00000375250.5	-	14	2139	c.1898A>T	c.(1897-1899)cAg>cTg	p.Q633L	ARHGAP12_ENST00000375245.4_Missense_Mutation_p.Q611L|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.Q663L|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.Q658L|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.Q611L	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	663					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				ATTCTCTCTCTGACACAGATT	0.318000													32	124					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341659	121341659	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr3:121341659C>A	ENST00000338040.4	+	3	1797	c.1383C>A	c.(1381-1383)agC>agA	p.S461R		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	461					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGCTCCACAGCGAGTGTGTGA	0.527000													9	33					3.09899e-07	3.77043e-07	1	1	0
SCAP	22937	broad.mit.edu	37	3	47476594	47476594	+	Silent	SNP	T	T	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr3:47476594T>A	ENST00000265565.5	-	3	568	c.156A>T	c.(154-156)acA>acT	p.T52T	SCAP_ENST00000545718.1_5'UTR|SCAP_ENST00000441517.2_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	52					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CCACAGGTCCTGTTCCTGGCA	0.537000													19	63					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49951615	49951615	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr12:49951615C>A	ENST00000257981.6	+	15	3391	c.3131C>A	c.(3130-3132)cCc>cAc	p.P1044H		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	1044	Pro-rich.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACTGGAGAGCCCCCACCAGGG	0.677000													8	48					0.000274275	0.000305681	1	1	0
TTC39B	158219	broad.mit.edu	37	9	15185366	15185366	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr9:15185366G>A	ENST00000355694.2	-	16	1562	c.1328C>T	c.(1327-1329)tCt>tTt	p.S443F	TTC39B_ENST00000512701.1_Missense_Mutation_p.S509F|TTC39B_ENST00000380850.4_Missense_Mutation_p.S496F|TTC39B_ENST00000297615.5_Missense_Mutation_p.S440F|TTC39B_ENST00000507993.1_Missense_Mutation_p.S344F|TTC39B_ENST00000507285.1_Missense_Mutation_p.S344F	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	443							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						AGTAGGGATAGATTTCCCGGC	0.512000													25	130					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150349245	150349245	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chrX:150349245G>A	ENST00000218316.3	+	2	1259	c.1190G>A	c.(1189-1191)cGc>cAc	p.R397H		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	397	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGCCTATCGCAAATCTGCC	0.582000													48	166					0	0	1	0	0
GATA6	2627	broad.mit.edu	37	18	19751291	19751291	+	Silent	SNP	G	G	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr18:19751291G>T	ENST00000269216.3	+	2	463	c.186G>T	c.(184-186)acG>acT	p.T62T	GATA6_ENST00000581694.1_Silent_p.T62T	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	62					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			ACTGCGGGACGCCTCAGCTCG	0.751000													18	15					1.10513e-12	1.62979e-12	1	1	0
CTTN	2017	broad.mit.edu	37	11	70279299	70279299	+	Silent	SNP	C	C	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr11:70279299C>T	ENST00000346329.3	+	15	1556	c.1248C>T	c.(1246-1248)taC>taT	p.Y416Y	CTTN_ENST00000538675.1_Silent_p.Y137Y|CTTN_ENST00000376561.3_Silent_p.Y416Y|CTTN_ENST00000301843.8_Silent_p.Y453Y	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	453						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CCGCTGACTACCGAGAGGCCA	0.657000													7	44					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12279682	12279682	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr12:12279682C>A	ENST00000261349.4	-	20	4331	c.4255G>T	c.(4255-4257)Gct>Tct	p.A1419S	LRP6_ENST00000543091.1_Missense_Mutation_p.A1374S|LRP6_ENST00000540415.1_Intron|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1419					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGCACAGAAGCTGGTCCATGA	0.458000													27	107					7.11191e-15	1.0816e-14	1	1	0
GOLGA3	2802	broad.mit.edu	37	12	133384781	133384781	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr12:133384781C>A	ENST00000204726.3	-	5	1432	c.874G>T	c.(874-876)Gac>Tac	p.D292Y	GOLGA3_ENST00000450791.2_Missense_Mutation_p.D292Y|GOLGA3_ENST00000456883.2_Missense_Mutation_p.D292Y|GOLGA3_ENST00000545875.1_Missense_Mutation_p.D292Y|GOLGA3_ENST00000537452.1_Missense_Mutation_p.D292Y	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	292					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCGTCAGTGTCGGGGGACAGG	0.592000													32	116					8.4185e-14	1.25419e-13	1	1	0
ALK	238	broad.mit.edu	37	2	29606679	29606679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr2:29606679G>A	ENST00000389048.3	-	5	2107	c.1201C>T	c.(1201-1203)Cga>Tga	p.R401*	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	401	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.R401*(3)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGGGCCACTCGAAATGGGTTG	0.483000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				16	92					0	0	1	0	0
KLHL11	55175	broad.mit.edu	37	17	40021265	40021265	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr17:40021265T>A	ENST00000319121.3	-	1	419	c.359A>T	c.(358-360)gAg>gTg	p.E120V		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	120	BTB.					extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CGTGAAGTACTCGGTGGCGGC	0.701000													6	34					0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152048799	152048799	+	Missense_Mutation	SNP	C	C	A	rs146787893		TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr4:152048799C>A	ENST00000409598.4	-	19	3325	c.2158G>T	c.(2158-2160)Ggg>Tgg	p.G720W	SH3D19_ENST00000514152.1_Missense_Mutation_p.G720W|SH3D19_ENST00000427414.2_Missense_Mutation_p.G684W|SH3D19_ENST00000455740.1_Missense_Mutation_p.G720W|SH3D19_ENST00000304527.4_Missense_Mutation_p.G743W|SH3D19_ENST00000424281.1_Missense_Mutation_p.G684W|SH3D19_ENST00000409252.2_Missense_Mutation_p.G743W			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	743	SH3 4.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TCATTCTCCCCTCGGAAATCA	0.363000													7	41					1.08611e-07	1.35531e-07	1	1	0
KMO	8564	broad.mit.edu	37	1	241714278	241714278	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr1:241714278G>T	ENST00000366559.4	+	4	557	c.246G>T	c.(244-246)atG>atT	p.M82I	KMO_ENST00000366557.4_Missense_Mutation_p.M82I|KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366558.3_Missense_Mutation_p.M82I	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	82					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GTATTCCCATGAGAGCAAGAA	0.378000													52	193					1.55088e-19	2.57306e-19	1	1	0
SEPT12	124404	broad.mit.edu	37	16	4833675	4833675	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr16:4833675T>A	ENST00000268231.8	-	6	868	c.605A>T	c.(604-606)gAg>gTg	p.E202V	SEPT12_ENST00000396693.5_Missense_Mutation_p.E156V	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	202					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CTCTCGCTCCTCCATGGTCAG	0.687000													18	61					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43154806	43154806	+	Missense_Mutation	SNP	G	G	T	rs145250491	by1000genomes	TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr6:43154806G>T	ENST00000252050.4	+	5	1444	c.1360G>T	c.(1360-1362)Ggg>Tgg	p.G454W	CUL9_ENST00000372647.2_Missense_Mutation_p.G454W|CUL9_ENST00000354495.3_Intron	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	454					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGTGGAGAAGGGGGCAGGGGC	0.572000													12	26					3.07112e-06	3.5586e-06	1	1	0
PLXNA3	55558	broad.mit.edu	37	X	153696202	153696202	+	Silent	SNP	G	G	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chrX:153696202G>T	ENST00000369682.3	+	21	3853	c.3678G>T	c.(3676-3678)gcG>gcT	p.A1226A		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1226					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCTGGCGGCGGGGGGTGGGC	0.687000													14	52					1.99824e-07	2.45162e-07	1	1	0
CCDC127	133957	broad.mit.edu	37	5	205868	205868	+	Missense_Mutation	SNP	C	C	A	rs147467162		TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr5:205868C>A	ENST00000296824.3	-	3	459	c.327G>T	c.(325-327)caG>caT	p.Q109H		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	109										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			ACTTGCGTCCCTGAGAGATAA	0.478000													15	41					2.23348e-06	2.60871e-06	1	1	0
ZNF677	342926	broad.mit.edu	37	19	53740556	53740556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr19:53740556C>T	ENST00000333952.4	-	5	1589	c.1424G>A	c.(1423-1425)tGg>tAg	p.W475*	ZNF677_ENST00000598513.1_Nonsense_Mutation_p.W475*			Q86XU0	ZN677_HUMAN	zinc finger protein 677	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CTGATGACCCCAAAGGTGTGA	0.363000													15	66					0	0	1	0	0
CNDP2	55748	broad.mit.edu	37	18	72176088	72176088	+	Silent	SNP	G	G	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr18:72176088G>A	ENST00000324262.4	+	5	697	c.381G>A	c.(379-381)ggG>ggA	p.G127G	CNDP2_ENST00000324301.8_Intron|CNDP2_ENST00000579847.1_Silent_p.G127G	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	127						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		AGCTGTATGGGAGAGGTTCGA	0.522000													8	34					0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9407173	9407173	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr19:9407173C>T	ENST00000591998.1	-	6	1135	c.907G>A	c.(907-909)Gga>Aga	p.G303R	ZNF699_ENST00000308650.3_Missense_Mutation_p.G303R			Q32M78	ZN699_HUMAN	zinc finger protein 699	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCTTATCTCCACTGTGAATT	0.393000													25	121					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41748808	41748808	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr19:41748808G>T	ENST00000301178.4	+	11	1523	c.1333G>T	c.(1333-1335)Gcc>Tcc	p.A445S	AXL_ENST00000593513.1_Missense_Mutation_p.A177S|AXL_ENST00000359092.3_Missense_Mutation_p.A436S	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	445						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TTCAACTCCTGCCTTCTCGTG	0.567000													17	81					4.96729e-08	6.36162e-08	1	1	0
ITPR1	3708	broad.mit.edu	37	3	4712560	4712560	+	Silent	SNP	G	G	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr3:4712560G>A	ENST00000302640.8	+	19	2459	c.2109G>A	c.(2107-2109)caG>caA	p.Q703Q	ITPR1_ENST00000423119.2_Silent_p.Q718Q|ITPR1_ENST00000354582.6_Silent_p.Q718Q|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Silent_p.Q718Q|ITPR1_ENST00000456211.2_Silent_p.Q703Q|ITPR1_ENST00000443694.2_Silent_p.Q703Q	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	718					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AATTGGCTCAGGATGCTAAAG	0.552000													4	15					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16990602	16990602	+	Missense_Mutation	SNP	C	C	T	rs145880377		TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr10:16990602C>T	ENST00000377833.4	-	35	5149	c.5084G>A	c.(5083-5085)cGt>cAt	p.R1695H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1695	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCCACAGTAACGGCCTAAATA	0.473000													3	28					0	0	1	0	0
PLA2G1B	5319	broad.mit.edu	37	12	120765547	120765547	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr12:120765547G>T	ENST00000308366.4	-	1	45	c.10C>A	c.(10-12)Ctt>Att	p.L4I	PLA2G1B_ENST00000423423.3_Missense_Mutation_p.L4I	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	4					actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTAGCACAAGGAGTTTCATC	0.527000													23	91					5.77227e-19	9.46912e-19	1	1	0
TRIM33	51592	broad.mit.edu	37	1	114940316	114940316	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr1:114940316C>T	ENST00000358465.2	-	20	3421	c.3338G>A	c.(3337-3339)cGc>cAc	p.R1113H	TRIM33_ENST00000450349.2_Missense_Mutation_p.R745H|TRIM33_ENST00000369543.2_Missense_Mutation_p.R1096H	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	1113					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCGTTTTCTGCGGGGCTGTAT	0.373000			T	RET	papillary thyroid								4	141					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175054540	175054540	+	Splice_Site	SNP	G	G	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr1:175054540G>T	ENST00000239462.4	+	6	1347		c.e6-1			NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N						cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.?(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTTGTTTCCAGGTCTGCACCC	0.597000													3	27					0.004672	0.00497892	1	1	0
MSL3P1	151507	broad.mit.edu	37	2	234775527	234775527	+	RNA	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr2:234775527C>A	ENST00000438684.1	-	0	587					NR_024322.1																						AGAGTAAAACCAACGGGAGAG	0.393000													7	47					7.48243e-07	8.95438e-07	1	1	0
PPP1R16B	26051	broad.mit.edu	37	20	37547102	37547102	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr20:37547102C>G	ENST00000299824.1	+	11	1686	c.1497C>G	c.(1495-1497)agC>agG	p.S499R	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.S457R	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	499					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CCTTCCTTAGCACACACCTGG	0.632000													13	45					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79270063	79270063	+	Silent	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr14:79270063C>A	ENST00000554719.1	+	6	1517	c.1026C>A	c.(1024-1026)tcC>tcA	p.S342S	NRXN3_ENST00000335750.5_Silent_p.S342S	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	119					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCTTCATGTCCCAGCGAGCTT	0.557000													27	84					8.58068e-18	1.37668e-17	1	1	0
SRD5A2	6716	broad.mit.edu	37	2	31805946	31805946	+	RNA	SNP	G	G	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr2:31805946G>A	ENST00000405650.1	-	0	190							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	CCAGCACTGGGCTCTGCTGGC	0.682000													8	29					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92533638	92533638	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr11:92533638C>T	ENST00000298047.6	+	9	7476	c.7459C>T	c.(7459-7461)Ctt>Ttt	p.L2487F	FAT3_ENST00000409404.2_Missense_Mutation_p.L2487F|FAT3_ENST00000525166.1_Missense_Mutation_p.L2337F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2487	Cadherin 22.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TATTAGGGTACTTGGGGCTAA	0.507000										TCGA Ovarian(4;0.039)			17	51					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5897563	5897563	+	Missense_Mutation	SNP	C	C	T	rs143107119		TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr20:5897563C>T	ENST00000378961.4	+	3	392	c.188C>T	c.(187-189)aCg>aTg	p.T63M	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	63						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GTCCTGAAGACGAGTAAGTGT	0.547000													24	84					0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44376838	44376838	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr19:44376838G>T	ENST00000587539.1	-	3	1527	c.1528C>A	c.(1528-1530)Ctt>Att	p.L510I	ZNF404_ENST00000324394.6_Missense_Mutation_p.L508I	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TGTTGAGTAAGTCGATCACTG	0.373000													6	33					2.0095e-06	2.38526e-06	1	1	0
RFFL	117584	broad.mit.edu	37	17	33348651	33348651	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr17:33348651C>A	ENST00000315249.7	-	3	552	c.330G>T	c.(328-330)agG>agT	p.R110S	RFFL_ENST00000268850.7_Missense_Mutation_p.R110S|RFFL_ENST00000584655.1_Missense_Mutation_p.R110S|RFFL_ENST00000415395.2_Missense_Mutation_p.R110S|RFFL_ENST00000394597.2_Missense_Mutation_p.R110S|RFFL_ENST00000378516.2_Missense_Mutation_p.R110S|RFFL_ENST00000447669.2_Missense_Mutation_p.R110S|RFFL_ENST00000413582.2_Missense_Mutation_p.R110S|RAD51L3-RFFL_ENST00000593039.1_Intron			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	110	SAP 1.				apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGAGATAGTCCCTCAAGTCCT	0.552000													18	84					8.10497e-08	1.02011e-07	1	1	0
ACKR4	51554	broad.mit.edu	37	3	132320031	132320031	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr3:132320031G>T	ENST00000249887.2	+	2	886	c.790G>T	c.(790-792)Gcc>Tcc	p.A264S	ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4																		GTTCTGCCGAGCCATAGACAT	0.448000													20	155					1.13719e-10	1.58124e-10	1	1	0
SNCAIP	9627	broad.mit.edu	37	5	121786347	121786347	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr5:121786347C>A	ENST00000261367.7	+	12	3374	c.1946C>A	c.(1945-1947)tCa>tAa	p.S649*	SNCAIP_ENST00000414317.2_Nonsense_Mutation_p.S204*|SNCAIP_ENST00000542191.1_Nonsense_Mutation_p.S160*|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379538.3_Nonsense_Mutation_p.S236*|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379533.2_Nonsense_Mutation_p.S649*|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000261368.8_Nonsense_Mutation_p.S602*|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379536.2_Nonsense_Mutation_p.S542*			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	602					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GGAAGCCTGTCAGCCTCCAGC	0.473000													21	61					3.51602e-12	5.13338e-12	1	1	0
NHSL2	340527	broad.mit.edu	37	X	71360515	71360515	+	Silent	SNP	G	G	A	rs147793067		TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chrX:71360515G>A	ENST00000373677.1	+	2	3281	c.2019G>A	c.(2017-2019)ctG>ctA	p.L673L	NHSL2_ENST00000535692.1_Silent_p.L673L|NHSL2_ENST00000540800.1_Silent_p.L1039L|NHSL2_ENST00000510661.1_Silent_p.L808L			F5H593	F5H593_HUMAN	NHS-like 2	1039										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCATCACCCTGGAGGAAGACA	0.567000													7	50					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29455179	29455179	+	Missense_Mutation	SNP	C	C	T	rs148001139		TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr2:29455179C>T	ENST00000389048.3	-	15	3529	c.2623G>A	c.(2623-2625)Gga>Aga	p.G875R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	875	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCTGCGGCTCCGGAATTGCCG	0.617000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				34	123					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15730413	15730413	+	RNA	SNP	G	G	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr19:15730413G>T	ENST00000441682.2	+	0	461							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GGAAGATTCTGCCCTTGCCCA	0.562000													4	21					0.014758	0.0155012	1	1	0
TTN	7273	broad.mit.edu	37	2	179439161	179439161	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr2:179439161G>A	ENST00000589042.1	-	326	71922	c.71698C>T	c.(71698-71700)Cgg>Tgg	p.R23900W	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R14960W|TTN_ENST00000460472.2_Missense_Mutation_p.R14835W|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21332W|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R22259W|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15027W|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22259	Ig-like 120.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAATCACCCGGAACTCATAA	0.453000													35	339					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	84028119	84028119	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr11:84028119C>T	ENST00000280241.8	-	1	69	c.70G>A	c.(70-72)Gcg>Acg	p.A24T	DLG2_ENST00000532653.1_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.A24T|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000524982.1_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGGGTGGGCGCACTCCTGACG	0.592000													48	225					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24924367	24924367	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr15:24924367C>A	ENST00000329468.2	+	1	3827	c.3353C>A	c.(3352-3354)gCt>gAt	p.A1118D		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGTGTTCCTGCTTTTCAACAG	0.488000													25	143					8.58068e-18	1.37668e-17	1	1	0
ZNF57	126295	broad.mit.edu	37	19	2917857	2917857	+	Missense_Mutation	SNP	C	C	T	rs148390269		TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr19:2917857C>T	ENST00000306908.5	+	4	1386	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.T381M	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTTGAGGACGCACACTGGA	0.438000													4	106					0	0	1	0	0
GYPE	2996	broad.mit.edu	37	4	144826671	144826671	+	Translation_Start_Site	SNP	C	C	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr4:144826671C>T	ENST00000358615.4	-	0	41				GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)							integral to plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					CCTGAGATCACGAGCTGGCTC	0.398000													5	71					0	0	1	0	0
BHLHA15	168620	broad.mit.edu	37	7	97841993	97841993	+	Silent	SNP	C	C	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr7:97841993C>T	ENST00000314018.2	+	1	428	c.372C>T	c.(370-372)atC>atT	p.I124I		NM_177455.3	NP_803238.1	Q7RTS1	BHA15_HUMAN	basic helix-loop-helix family, member a15	124	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										AGAACTACATCAAATCGCTGA	0.622000													3	2					0	0	1	0	0
PPEF1	5475	broad.mit.edu	37	X	18775846	18775846	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chrX:18775846G>T	ENST00000361511.4	+	8	992	c.498G>T	c.(496-498)gaG>gaT	p.E166D	PPEF1_ENST00000359763.6_Missense_Mutation_p.E113D|PPEF1_ENST00000544635.1_Missense_Mutation_p.E101D|PPEF1_ENST00000543630.1_Missense_Mutation_p.E166D|PPEF1_ENST00000349874.5_Missense_Mutation_p.E166D	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	166	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CCTCCAAAGAGGTAACAATCT	0.393000													32	128					1.61788e-16	2.5399e-16	1	1	0
TUBB6	84617	broad.mit.edu	37	18	12325517	12325517	+	Silent	SNP	G	G	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr18:12325517G>A	ENST00000317702.5	+	4	963	c.729G>A	c.(727-729)ccG>ccA	p.P243P	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591208.1_3'UTR			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	243					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		TGCGCTTCCCGGGCCAGCTCA	0.657000													12	80					0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197597246	197597246	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr2:197597246C>T	ENST00000389175.4	+	28	3401	c.3266C>T	c.(3265-3267)cCc>cTc	p.P1089L	CCDC150_ENST00000272831.7_Missense_Mutation_p.P736L|CCDC150_ENST00000409270.1_Missense_Mutation_p.P576L	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	1089										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AATCTTAGGCCCATGCCCAAG	0.443000													34	160					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77894355	77894355	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr18:77894355G>T	ENST00000262198.4	+	4	1514	c.1059G>T	c.(1057-1059)caG>caT	p.Q353H		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	353	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CAGCACCTCAGCCCGTCTTTC	0.582000													13	60					2.23348e-06	2.60871e-06	1	1	0
GRIK5	2901	broad.mit.edu	37	19	42509946	42509946	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr19:42509946C>T	ENST00000262895.3	-	16	2191	c.2192G>A	c.(2191-2193)cGc>cAc	p.R731H	GRIK5_ENST00000593562.1_Missense_Mutation_p.R731H|GRIK5_ENST00000301218.4_Missense_Mutation_p.R731H	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	731						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GCAGTTGAGGCGCCGGTGGTA	0.622000													8	42					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8528531	8528531	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr19:8528531C>A	ENST00000348943.3	+	5	631	c.399C>A	c.(397-399)aaC>aaA	p.N133K	HNRNPM_ENST00000325495.4_Missense_Mutation_p.N133K	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	133	RRM 1.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AAGTCCTAAACAAGCATAGTC	0.418000													9	44					9.05144e-12	1.28302e-11	1	1	0
CACNG1	786	broad.mit.edu	37	17	65040854	65040854	+	Silent	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr17:65040854C>A	ENST00000226021.3	+	1	149	c.78C>A	c.(76-78)gcC>gcA	p.A26A		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	26					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	CCATGACAGCCGTGGTAACCG	0.632000													24	106					1.7881e-09	2.39507e-09	1	1	0
LOC644669	644669	broad.mit.edu	37	18	15323276	15323276	+	RNA	SNP	A	A	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr18:15323276A>T	ENST00000455308.2	-	0	572					NR_027417.1																						ATCAACTGCAATTGCATTTGC	0.308000													3	18					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590121	140590121	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr5:140590121C>A	ENST00000239450.2	+	1	1831	c.1642C>A	c.(1642-1644)Cgc>Agc	p.R548S	PCDHB12_ENST00000541609.1_Missense_Mutation_p.R211S	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		548	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGCTGGTGCGCGTGCTGGT	0.706000													15	59					3.32936e-07	4.01724e-07	1	1	0
FLG	2312	broad.mit.edu	37	1	152275555	152275555	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr1:152275555T>A	ENST00000368799.1	-	3	11842	c.11807A>T	c.(11806-11808)cAa>cTa	p.Q3936L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3936	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCAGAATCTTGTGAAAGACT	0.453000									Ichthyosis				19	84					0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28619895	28619895	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr16:28619895T>A	ENST00000395609.1	-	5	936	c.178A>T	c.(178-180)Atg>Ttg	p.M60L	SULT1A1_ENST00000395607.1_Missense_Mutation_p.M60L|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000314752.7_Missense_Mutation_p.M60L|SULT1A1_ENST00000569554.1_Missense_Mutation_p.M60L			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	60					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						TGGTAGATCATGTCCAGAATC	0.602000													5	41					0	0	1	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726547	25726547	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr6:25726547G>T	ENST00000297012.3	-	1	243	c.209C>A	c.(208-210)gCg>gAg	p.A70E		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	70					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A70E(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						ATCGCGAGACGCATTGCCTGC	0.517000													14	74					9.31168e-06	1.07048e-05	1	1	0
NELL1	4745	broad.mit.edu	37	11	21250897	21250897	+	Silent	SNP	C	C	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr11:21250897C>T	ENST00000298925.5	+	15	1683	c.1530C>T	c.(1528-1530)agC>agT	p.S510S	NELL1_ENST00000325319.5_Silent_p.S425S|NELL1_ENST00000532434.1_Silent_p.S482S|NELL1_ENST00000357134.5_Silent_p.S482S			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	482	EGF-like 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AATGTGGCAGCGGCCAGCACA	0.488000													17	71					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													7	74					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6540402	6540402	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr10:6540402G>C	ENST00000263125.5	-	5	597	c.498C>G	c.(496-498)ttC>ttG	p.F166L	PRKCQ_ENST00000397176.2_Missense_Mutation_p.F166L|PRKCQ_ENST00000539722.1_Missense_Mutation_p.F41L	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	166					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GCTGTGGGAAGAAGGTGGCAG	0.522000													23	127					0	0	1	0	0
TWF1	5756	broad.mit.edu	37	12	44198367	44198367	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr12:44198367C>T	ENST00000395510.2	-	2	163	c.34G>A	c.(34-36)Gat>Aat	p.D12N	TWF1_ENST00000552521.1_5'UTR|TWF1_ENST00000547564.1_5'UTR|TWF1_ENST00000548315.1_Missense_Mutation_p.D12N|TWF1_ENST00000325127.4_Missense_Mutation_p.D46N	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	12	ADF-H 1.			D -> Y (in Ref. 3; CAG46561).		actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TCTTTAACATCTTCACTTGCT	0.254000													13	113					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56387946	56387946	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr17:56387946C>G	ENST00000355701.3	-	20	4496	c.3626G>C	c.(3625-3627)cGg>cCg	p.R1209P	BZRAP1_ENST00000343736.4_Missense_Mutation_p.R1209P|BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1149P	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1209						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGCTGGGCCCGTGCTCCCTG	0.672000													8	43					0	0	1	0	0
PRRG2	5639	broad.mit.edu	37	19	50093639	50093639	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr19:50093639C>T	ENST00000246794.5	+	7	771	c.602C>T	c.(601-603)cCt>cTt	p.P201L	PRRG2_ENST00000596700.1_3'UTR	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	201						extracellular region|integral to plasma membrane	calcium ion binding			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		CTCAGGAGGCCTCACTGAAGA	0.597000													43	186					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85748131	85748131	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr4:85748131C>A	ENST00000322366.6	-	10	1367	c.960G>T	c.(958-960)ttG>ttT	p.L320F	WDFY3_ENST00000295888.4_Missense_Mutation_p.L320F			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	320						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGCTTGTTCCAATCTAGAAA	0.313000													17	86					4.96729e-08	6.36162e-08	1	1	0
B4GALNT4	338707	broad.mit.edu	37	11	381703	381703	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr11:381703C>T	ENST00000329962.6	+	20	3031	c.3031C>T	c.(3031-3033)Cga>Tga	p.R1011*		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	1011						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGCGGCTCCGACTGCGGAA	0.687000													7	89					0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2472832	2472832	+	Missense_Mutation	SNP	C	C	A	rs140680045	byFrequency	TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr7:2472832C>A	ENST00000258711.6	+	2	693	c.558C>A	c.(556-558)agC>agA	p.S186R		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	186					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		TCGTGCTGAGCGGAAGCCTGC	0.662000													3	63					1	1	1	1	0
HELZ2	85441	broad.mit.edu	37	20	62191918	62191918	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr20:62191918C>A	ENST00000467148.1	-	16	7483	c.7414G>T	c.(7414-7416)Gtg>Ttg	p.V2472L	HELZ2_ENST00000427522.2_Missense_Mutation_p.V1903L	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		TGGCCCTGCACGTGGCCAAAG	0.632000													23	103					1.33986e-20	2.24851e-20	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			21	28					3.73148e-12	5.39402e-12	1	1	0
COQ7	10229	broad.mit.edu	37	16	19088645	19088645	+	Silent	SNP	G	G	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr16:19088645G>A	ENST00000321998.5	+	5	591	c.525G>A	c.(523-525)cgG>cgA	p.R175R	COQ7_ENST00000569127.1_Silent_p.R152R|COQ7_ENST00000568985.1_Silent_p.R175R|COQ7_ENST00000544894.2_Silent_p.R137R	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	175	2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						AGAAATTTCGGGATGAAGAGC	0.448000													12	32					0	0	1	0	0
TM7SF3	51768	broad.mit.edu	37	12	27152486	27152486	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr12:27152486C>A	ENST00000343028.4	-	3	595	c.370G>T	c.(370-372)Gct>Tct	p.A124S	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	124						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					AGTAGGATAGCCATATTCTGG	0.448000													4	114					0.150653	0.153814	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													4	101					0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219259426	219259426	+	Missense_Mutation	SNP	A	A	G	rs139317500	by1000genomes	TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr2:219259426A>G	ENST00000233202.6	+	14	1800	c.1460A>G	c.(1459-1461)tAt>tGt	p.Y487C	SLC11A1_ENST00000539932.1_Missense_Mutation_p.Y369C	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	487					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGTCAGCTATCTGCCCAGC	0.622000													28	135					0	0	1	0	0
WDR36	134430	broad.mit.edu	37	5	110441783	110441783	+	Missense_Mutation	SNP	G	G	A	rs145743089		TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr5:110441783G>A	ENST00000506538.2	+	11	1862	c.1289G>A	c.(1288-1290)cGt>cAt	p.R430H	WDR36_ENST00000513710.2_Missense_Mutation_p.R430H|WDR36_ENST00000505303.1_Missense_Mutation_p.R374H	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	430					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AGAGTTAAACGTAAAGGACTT	0.353000													6	110					0	0	1	0	0
SATL1	340562	broad.mit.edu	37	X	84362763	84362763	+	Silent	SNP	T	T	A			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chrX:84362763T>A	ENST00000509231.1	-	1	1291	c.1212A>T	c.(1210-1212)tcA>tcT	p.S404S	SATL1_ENST00000395409.3_Silent_p.S217S|SATL1_ENST00000332921.5_Silent_p.S217S			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	217	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GGCTTGTGCCTGATTGGCTGG	0.537000													39	95					0	0	1	0	0
TIMP1	7076	broad.mit.edu	37	X	47444746	47444746	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chrX:47444746C>T	ENST00000377018.2	+	3	679	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	SYN1_ENST00000340666.4_Intron|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000377017.1_Intron|TIMP1_ENST00000456754.2_Missense_Mutation_p.P115L|TIMP1_ENST00000218388.4_Intron			P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	0	NTR.				erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						GCACCGTCCCCGCGCCCTGTG	0.647000													3	41					0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16757825	16757825	+	Silent	SNP	G	G	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr1:16757825G>T	ENST00000375577.1	-	2	381	c.42C>A	c.(40-42)acC>acA	p.T14T	SPATA21_ENST00000540400.1_Intron|SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000335496.1_Intron			Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	15							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		CTGGAGCCTTGGTTCTACCCT	0.567000													5	71					0.000602214	0.000661077	1	1	0
ACTR3	10096	broad.mit.edu	37	2	114685027	114685027	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr2:114685027C>G	ENST00000263238.2	+	4	651	c.331C>G	c.(331-333)Ctt>Gtt	p.L111V	ACTR3_ENST00000535589.2_Missense_Mutation_p.L60V|ACTR3_ENST00000536059.1_Missense_Mutation_p.L49V	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	111					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						CCATTATTTTCTTTTGGTAAG	0.308000													13	50					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99645362	99645362	+	Translation_Start_Site	SNP	A	A	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr15:99645362A>T	ENST00000336292.6	+	0	77				RP11-654A16.3_ENST00000559468.1_RNA|SYNM_ENST00000560674.1_Intron|SYNM_ENST00000328642.7_De_novo_Start_OutOfFrame|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein						intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGACCAGGGCAGGAGGGAGCC	0.746000													5	4					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043183	74043183	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr2:74043183A>T	ENST00000409561.1	+	3	1954	c.1833A>T	c.(1831-1833)caA>caT	p.Q611H		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	611	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AGAAAAATCAACCTGAGCTTA	0.448000													9	49					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165548821	165548821	+	Translation_Start_Site	SNP	T	T	G			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr3:165548821T>G	ENST00000264381.3	-	2	167	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	1					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TTGCTATGCATATTGATTTCT	0.308000													5	25					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114968116	114968118	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr1:114968116_114968118delTGT	ENST00000358465.2	-	9	1731_1733	c.1648_1650delACA	c.(1648-1650)del	p.T550del	TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del|TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	550	Poly-Thr.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGCTGTTGTGTTGTTGTTGTT	0.429			T	RET	papillary thyroid								7	483	---	---	---	---					
OR2M2	391194	broad.mit.edu	37	1	248343596	248343597	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr1:248343596_248343597insTA	ENST00000359682.2	+	1	309_310	c.309_310insTA	c.(307-312)ttatatfs	p.LY103fs		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AAATTTTCTTCTATATATCACT	0.431													12	433	---	---	---	---					
EGF	1950	broad.mit.edu	37	4	110883117	110883120	+	Frame_Shift_Del	DEL	GAGA	GAGA	-			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr4:110883117_110883120delGAGA	ENST00000265171.5	+	8	1733_1736	c.1288_1291delGAGA	c.(1288-1293)gafs	p.ER430fs	EGF_ENST00000503392.1_Frame_Shift_Del_p.ER430fs|EGF_ENST00000509793.1_Frame_Shift_Del_p.ER388fs	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	430	EGF-like 3.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CTCAGTGCTTGAGAGAGATGGGAA	0.397													9	231	---	---	---	---					
BHLHA15	168620	broad.mit.edu	37	7	97842081	97842083	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr7:97842081_97842083delCAG	ENST00000314018.2	+	1	516_518	c.460_462delCAG	c.(460-462)del	p.Q158del		NM_177455.3	NP_803238.1	Q7RTS1	BHA15_HUMAN	basic helix-loop-helix family, member a15	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										CCAGCACTACCAGCAGCAGCAGC	0.665													2	4	---	---	---	---					
FDXR	2232	broad.mit.edu	37	17	72862664	72862665	+	Frame_Shift_Del	DEL	CG	CG	-	rs141174234		TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr17:72862664_72862665delCG	ENST00000455107.2	-	5	580_581	c.164_165delCG	c.(163-165)afs	p.T55fs	FDXR_ENST00000544854.1_Frame_Shift_Del_p.T47fs|FDXR_ENST00000442102.2_Frame_Shift_Del_p.T142fs|FDXR_ENST00000420580.2_Intron|FDXR_ENST00000293195.5_Frame_Shift_Del_p.T99fs|FDXR_ENST00000413947.2_Frame_Shift_Del_p.T130fs|FDXR_ENST00000581530.1_Frame_Shift_Del_p.T99fs|FDXR_ENST00000583917.1_Frame_Shift_Del_p.T100fs|FDXR_ENST00000582944.1_Splice_Site_p.T91_splice|FDXR_ENST00000581969.1_5'UTR			P22570	ADRO_HUMAN	ferredoxin reductase	99					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CAGAATGGGCCGTCTGGGTAAA	0.639													7	71	---	---	---	---					
SYNDIG1	79953	broad.mit.edu	37	20	24524183	24524185	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-55-7728-01A-11D-2184-08	TCGA-55-7728-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be345756-62d1-4c2f-a2f2-fceb95f13364	d97318e0-a7ec-44e9-a46d-ef62081afc05	g.chr20:24524183_24524185delGGA	ENST00000376862.3	+	2	1083_1085	c.450_452delGGA	c.(448-453)gtg>gt	p.VE150del		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	150					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTACGATGTGGAGGAGGAGGAG	0.547													7	310	---	---	---	---					
