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
UNC13D	201294	broad.mit.edu	37	17	73832148	73832148	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:73832148C>G	ENST00000207549.4	-	17	1868	c.1489G>C	c.(1489-1491)Gat>Cat	p.D497H	UNC13D_ENST00000412096.2_Missense_Mutation_p.D497H	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	497	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCAATGACATCCTGTACCAGG	0.637000									Familial Hemophagocytic Lymphohistiocytosis				20	135					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139833536	139833536	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr8:139833536T>C	ENST00000303045.6	-	7	1534	c.1088A>G	c.(1087-1089)gAc>gGc	p.D363G	COL22A1_ENST00000435777.1_Missense_Mutation_p.D363G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	363	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTGTGCCAGTCCCGGTCAAA	0.562000										HNSCC(7;0.00092)			25	77					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197112897	197112897	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:197112897G>C	ENST00000367409.4	-	3	741	c.485C>G	c.(484-486)tCt>tGt	p.S162C	ASPM_ENST00000294732.7_Missense_Mutation_p.S162C	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	162					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTGACTTGTAGAGGCTGAAAT	0.318000													6	56					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22804538	22804538	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr21:22804538C>T	ENST00000400546.1	+	12	1840	c.1591C>T	c.(1591-1593)Cag>Tag	p.Q531*	NCAM2_ENST00000284894.7_Nonsense_Mutation_p.Q389*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	531	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TCATCACTATCAGGTGGATGT	0.443000													17	53					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509204	71509204	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:71509204A>T	ENST00000396073.3	+	9	2342	c.2061A>T	c.(2059-2061)gaA>gaT	p.E687D	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	687					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GGCACTATGAAGGTGAACAAT	0.403000													14	86					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227216691	227216691	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:227216691G>C	ENST00000366769.3	-	29	5285	c.3994C>G	c.(3994-3996)Cag>Gag	p.Q1332E	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.Q1251E|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.Q1345E|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.Q1332E|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.Q1304E|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.Q1312E|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.Q1367E	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1345	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GTCTTGCTCTGAAATAGTTCA	0.448000													15	47					0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49087643	49087643	+	Silent	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr12:49087643G>A	ENST00000261900.3	-	9	1576	c.1354C>T	c.(1354-1356)Ctg>Ttg	p.L452L		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	452					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GCCTTTTCCAGAAAAGGCCGC	0.443000													25	90					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39876511	39876511	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:39876511G>A	ENST00000530275.1	+	1	361	c.166G>A	c.(166-168)Gta>Ata	p.V56I	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	56	13 X 13 AA approximate tandem repeat of P-T-S-P-A-A-A-V-P-T-P-E-E.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTCAGAGTCAGTAACTCTGGA	0.438000													17	52					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21242618	21242618	+	Silent	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:21242618G>A	ENST00000233242.1	-	19	3103	c.2976C>T	c.(2974-2976)taC>taT	p.Y992Y		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	992					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCAGCGGATAGTAGGAGGCGG	0.547000													10	31					0	0	1	0	0
AMER2	219287	broad.mit.edu	37	13	25744991	25744991	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr13:25744991G>T	ENST00000357816.2	-	2	1242	c.767C>A	c.(766-768)cCg>cAg	p.P256Q	AMER2_ENST00000381853.3_Missense_Mutation_p.P256Q|AMER2_ENST00000515384.1_Missense_Mutation_p.P256Q					APC membrane recruitment protein 2																		TGGGTCTCGCGGGGCGTCCTG	0.761000													5	13					0.0381472	0.0382191	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103343587	103343587	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:103343587A>G	ENST00000358392.2	-	67	5762	c.5445T>C	c.(5443-5445)tgT>tgC	p.C1815C	COL11A1_ENST00000370096.3_Silent_p.C1803C|COL11A1_ENST00000512756.1_Silent_p.C1687C|COL11A1_ENST00000353414.4_Silent_p.C1764C	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1803					collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGCCAAGAAAACAAACAGGAC	0.358000													5	72					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17831762	17831762	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:17831762G>T	ENST00000324096.4	+	2	287	c.136G>T	c.(136-138)Gtc>Ttc	p.V46F	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.V20F	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	46	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GTCTTGGGATGTCGATCCTGG	0.577000													6	226					0.27861	0.27861	1	1	0
AKAP6	9472	broad.mit.edu	37	14	33015330	33015330	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr14:33015330G>A	ENST00000280979.4	+	4	1641	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	AKAP6_ENST00000557272.1_Missense_Mutation_p.E491K|AKAP6_ENST00000557354.1_Missense_Mutation_p.E491K	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	491					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGCTATAAAGAGAAATCTCG	0.438000													39	196					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21345947	21345947	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr22:21345947C>T	ENST00000215739.8	+	9	1181	c.822C>T	c.(820-822)ctC>ctT	p.L274L	LZTR1_ENST00000389355.3_Silent_p.L255L|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	274					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AACACCTGCTCCGGGGCTCCC	0.657000													32	18					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16918496	16918496	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:16918496T>C	ENST00000524140.2	+	18	4254	c.3836T>C	c.(3835-3837)gTc>gCc	p.V1279A	NWD1_ENST00000549814.1_Missense_Mutation_p.V1237A|NWD1_ENST00000523826.1_Missense_Mutation_p.V1073A|NWD1_ENST00000552788.1_Missense_Mutation_p.V1279A|NWD1_ENST00000339803.6_Missense_Mutation_p.V1144A|NWD1_ENST00000379808.3_Missense_Mutation_p.V1279A	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1279							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCGGGGGTCGTCCTTGTGTTC	0.587000													13	78					0	0	1	0	0
CRLS1	54675	broad.mit.edu	37	20	6015166	6015166	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr20:6015166C>T	ENST00000378863.4	+	6	943	c.786C>T	c.(784-786)ttC>ttT	p.F262F	CRLS1_ENST00000452938.1_3'UTR|CRLS1_ENST00000378868.4_Silent_p.F163F|CRLS1_ENST00000464921.1_3'UTR	NM_019095.4	NP_061968.1	Q9UJA2	CRLS1_HUMAN	cardiolipin synthase 1	262					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphotransferase activity, for other substituted phosphate groups			lung(3)|ovary(1)	4						CTCCAGTTTTCAACTATGCTG	0.373000													10	56					0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48033789	48033789	+	Splice_Site	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:48033789C>T	ENST00000234420.5	+	9	4152	c.4000C>T	c.(4000-4002)Cgg>Tgg	p.R1334W	MSH6_ENST00000540021.1_Splice_Site_p.R1204W|MSH6_ENST00000538136.1_Splice_Site_p.R1032W|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACGATTATTTCGGTAACTAAC	0.338000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				10	34					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60508157	60508157	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr20:60508157A>C	ENST00000360469.5	+	14	2442	c.2354A>C	c.(2353-2355)gAg>gCg	p.E785A	CDH4_ENST00000543233.1_Missense_Mutation_p.E711A	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	785					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AAGTATGACGAGGAAGGCGGT	0.632000													14	73					0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116057124	116057124	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr10:116057124T>A	ENST00000369271.3	-	17	2462	c.2162A>T	c.(2161-2163)gAg>gTg	p.E721V	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.E774V|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.E721V|AFAP1L2_ENST00000491814.1_5'UTR	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	721					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CCGGCACTCCTCGTCAATTTC	0.582000													12	17					0	0	1	0	0
HMGCS1	3157	broad.mit.edu	37	5	43297193	43297193	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr5:43297193T>A	ENST00000325110.6	-	5	856	c.650A>T	c.(649-651)gAt>gTt	p.D217V	HMGCS1_ENST00000433297.2_Missense_Mutation_p.D217V	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	217					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						GAGTTTTCCATCTACTATAGG	0.413000													62	97					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70667772	70667772	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr8:70667772T>C	ENST00000260126.4	-	4	1851	c.1145A>G	c.(1144-1146)aAa>aGa	p.K382R	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.K382R|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.K382R	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1		Poly-Lys.					integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGAAAATTTTTTCTTTTTCTT	0.373000													13	52					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26722394	26722394	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr8:26722394C>T	ENST00000380573.3	-	2	1116	c.93G>A	c.(91-93)gtG>gtA	p.V31V	ADRA1A_ENST00000276393.4_Silent_p.V31V|ADRA1A_ENST00000380572.3_Silent_p.V31V|ADRA1A_ENST00000380586.1_Silent_p.V31V|ADRA1A_ENST00000380582.3_Silent_p.V31V|ADRA1A_ENST00000380587.1_Silent_p.V31V|ADRA1A_ENST00000380581.2_Silent_p.V31V|ADRA1A_ENST00000354550.4_Silent_p.V31V|ADRA1A_ENST00000519229.1_Silent_p.V31V|ADRA1A_ENST00000358857.5_Silent_p.V31V			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	31					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CCCCCAAGATCACCCCGAGCA	0.572000													102	189					0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45987830	45987830	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr21:45987830T>C	ENST00000323084.4	-	2	207	c.142A>G	c.(142-144)Atc>Gtc	p.I48V	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	48					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ACTATCCTGATCCCGCTTGTG	0.607000													28	63					0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5604869	5604869	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:5604869C>T	ENST00000252542.4	-	10	1639	c.1375G>A	c.(1375-1377)Gac>Aac	p.D459N	SAFB2_ENST00000591310.1_5'UTR	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	459	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GTCGCCTCGTCAGATGTCGAC	0.547000													6	33					0	0	1	0	0
UPRT	139596	broad.mit.edu	37	X	74519605	74519605	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:74519605C>G	ENST00000373379.1	+	5	763	c.598C>G	c.(598-600)Cga>Gga	p.R200G	UPRT_ENST00000373383.4_Missense_Mutation_p.R200G|UPRT_ENST00000530743.1_Missense_Mutation_p.R64G			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	200					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						AGACTGCTGTCGATCCATACG	0.418000													16	88					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37154575	37154575	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr20:37154575C>T	ENST00000262879.6	+	13	2224	c.1940C>T	c.(1939-1941)tCt>tTt	p.S647F	RALGAPB_ENST00000397040.1_Missense_Mutation_p.S647F|RALGAPB_ENST00000397042.3_Missense_Mutation_p.S647F|RALGAPB_ENST00000397038.1_Missense_Mutation_p.S425F			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	647					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GATGACAGCTCTTCTTATGAT	0.393000													19	109					0	0	1	0	0
RIBC2	26150	broad.mit.edu	37	22	45813510	45813510	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr22:45813510C>T	ENST00000342894.3	+	3	435	c.21C>T	c.(19-21)atC>atT	p.I7I	RIBC2_ENST00000538017.1_Silent_p.I75I			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	7										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATGACAAAATCATGTGCATAT	0.378000													17	44					0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147560545	147560545	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:147560545G>A	ENST00000281321.3	+	1	501	c.253G>A	c.(253-255)Gag>Aag	p.E85K		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	85					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					cgggggcTCGGAGGCTATGCG	0.667000													5	32					0	0	1	0	0
TNNC1	7134	broad.mit.edu	37	3	52485797	52485797	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr3:52485797C>G	ENST00000232975.3	-	4	334	c.280G>C	c.(280-282)Gag>Cag	p.E94Q		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	94	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	AGCTCCTCCTCAGATTTCCCT	0.582000													25	64					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123444796	123444796	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr3:123444796A>T	ENST00000360772.3	-	13	2024	c.1646T>A	c.(1645-1647)cTg>cAg	p.L549Q	MYLK_ENST00000346322.5_Missense_Mutation_p.L480Q|MYLK_ENST00000475616.1_Missense_Mutation_p.L549Q|MYLK_ENST00000359169.1_Missense_Mutation_p.L549Q|MYLK_ENST00000360304.3_Missense_Mutation_p.L549Q			Q15746	MYLK_HUMAN	myosin light chain kinase	549	Ig-like C2-type 4.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTCACCATTCAGCAGCCAAGT	0.587000													17	64					0	0	1	0	0
GSTA5	221357	broad.mit.edu	37	6	52696763	52696763	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr6:52696763C>T	ENST00000370989.2	-	6	581	c.552G>A	c.(550-552)ctG>ctA	p.L184L	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Silent_p.L184L			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5		GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TTCTGGTTTTCAGGGCCTGTA	0.522000													26	52					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83933235	83933235	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr15:83933235C>T	ENST00000345382.2	-	4	853	c.768G>A	c.(766-768)ctG>ctA	p.L256L	BNC1_ENST00000569704.1_Silent_p.L249L|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	256					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ATGACCCTATCAGTGCAGGAG	0.502000													9	48					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145633195	145633195	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:145633195T>C	ENST00000296575.3	+	8	2050	c.1395T>C	c.(1393-1395)atT>atC	p.I465I		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	465						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CAGCCAGAATTCTACAGATAA	0.333000													17	87					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32754759	32754759	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:32754759A>G	ENST00000421745.2	+	60	12096	c.11962A>G	c.(11962-11964)Act>Gct	p.T3988A		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3988					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCAGCTTTTAACTCTCCTATA	0.388000													8	105					0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24681365	24681365	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr7:24681365G>C	ENST00000222644.5	+	3	398	c.148G>C	c.(148-150)Gaa>Caa	p.E50Q	MPP6_ENST00000396475.2_Missense_Mutation_p.E50Q|MPP6_ENST00000409761.1_5'UTR			Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)		L27 2.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TTCCAAACTAGAAGCTGTCAG	0.333000													18	78					0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63978239	63978239	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:63978239A>G	ENST00000279227.5	+	3	412	c.317A>G	c.(316-318)aAc>aGc	p.N106S	FERMT3_ENST00000345728.5_Missense_Mutation_p.N106S	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	106					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CGGTTGCCCAACCGCCGCGCA	0.667000													26	238					0	0	1	0	0
ATG4D	84971	broad.mit.edu	37	19	10663608	10663608	+	Silent	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:10663608G>T	ENST00000309469.4	+	10	1463	c.1290G>T	c.(1288-1290)ctG>ctT	p.L430L	ATG4D_ENST00000540862.1_Silent_p.L97L	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	430					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGTTCACCCTGGCCGAGGGCC	0.662000													36	90					6.19805e-25	6.70196e-25	1	1	0
NTSR2	23620	broad.mit.edu	37	2	11809700	11809700	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:11809700C>T	ENST00000306928.5	-	1	590	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	186					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GGCTCCGGCTCCCCGTCCGCC	0.711000													8	22					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838378	16838378	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:16838378G>A	ENST00000355661.3	-	11	1845	c.1835C>T	c.(1834-1836)tCt>tTt	p.S612F	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.S612F|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.S612F|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	612	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CCTCCTTGGAGAATCCCCCAG	0.642000													25	96					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58975416	58975416	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr14:58975416G>C	ENST00000423743.3	+	29	4438	c.4180G>C	c.(4180-4182)Gat>Cat	p.D1394H	KIAA0586_ENST00000261244.5_Missense_Mutation_p.D1362H|KIAA0586_ENST00000354386.6_Missense_Mutation_p.D1491H|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000556134.1_Missense_Mutation_p.D1423H	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	1362										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCCGCTGAAGATTTTTCCCA	0.413000													7	9					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46967521	46967521	+	Nonsense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr10:46967521T>A	ENST00000374323.4	-	3	1302	c.715A>T	c.(715-717)Aag>Tag	p.K239*	SYT15_ENST00000503753.1_Nonsense_Mutation_p.K186*|SYT15_ENST00000374325.3_Nonsense_Mutation_p.K186*|SYT15_ENST00000374321.4_Nonsense_Mutation_p.K186*			Q9BQS2	SYT15_HUMAN	synaptotagmin XV		C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						AGGTAGAGCTTCACCAGGGGG	0.587000													16	76					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656094	167656094	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:167656094T>A	ENST00000357154.3	-	12	1426	c.1289A>T	c.(1288-1290)gAt>gTt	p.D430V	SPOCK3_ENST00000535728.1_Missense_Mutation_p.D298V|SPOCK3_ENST00000541354.1_Missense_Mutation_p.D310V|SPOCK3_ENST00000511531.1_Missense_Mutation_p.D430V|SPOCK3_ENST00000512681.1_Missense_Mutation_p.D332V|SPOCK3_ENST00000534949.1_Missense_Mutation_p.D334V|SPOCK3_ENST00000511269.1_Missense_Mutation_p.D427V|SPOCK3_ENST00000504953.1_Missense_Mutation_p.D427V|SPOCK3_ENST00000502330.1_Missense_Mutation_p.D430V|SPOCK3_ENST00000421836.2_Missense_Mutation_p.D379V|SPOCK3_ENST00000357545.4_Missense_Mutation_p.D427V|SPOCK3_ENST00000510741.1_Missense_Mutation_p.D387V|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000506886.1_Missense_Mutation_p.D430V|SPOCK3_ENST00000541637.1_Missense_Mutation_p.D332V	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	430	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		atcatggtcatcaccaccatc	0.308000													7	40					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160659	132160659	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:132160659A>G	ENST00000511190.1	-	6	2059	c.1590T>C	c.(1588-1590)tgT>tgC	p.C530C	USP26_ENST00000370832.1_Silent_p.C530C|USP26_ENST00000406273.1_Silent_p.C530C	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	530					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCTTTAATGCACAAAACTCAT	0.418000													25	194					0	0	1	0	0
IPMK	253430	broad.mit.edu	37	10	59956279	59956279	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr10:59956279T>C	ENST00000373935.3	-	6	1131	c.809A>G	c.(808-810)gAc>gGc	p.D270G		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	270						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						CAAAGTTCTGTCATTCAATTT	0.363000													9	29					0	0	1	0	0
RPA1	6117	broad.mit.edu	37	17	1795168	1795168	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:1795168T>C	ENST00000254719.5	+	15	1703	c.1593T>C	c.(1591-1593)tgT>tgC	p.C531C		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	531					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						GGGTGACTTGTTTCCAGGAGT	0.333000								Nucleotide excision repair (NER)					33	76					0	0	1	0	0
NMD3	51068	broad.mit.edu	37	3	160960364	160960364	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr3:160960364G>C	ENST00000460469.1	+	10	1395	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	NMD3_ENST00000351193.2_Missense_Mutation_p.E314Q|NMD3_ENST00000472947.1_Missense_Mutation_p.E314Q			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	314					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CAAACAGCTAGAGGAGTTTAT	0.403000													15	75					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10477149	10477149	+	Silent	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:10477149G>C	ENST00000525621.1	-	6	1054	c.573C>G	c.(571-573)ctC>ctG	p.L191L	TYK2_ENST00000264818.6_Silent_p.L191L|TYK2_ENST00000529370.1_Silent_p.L191L|TYK2_ENST00000524462.1_Silent_p.L6L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	191	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CGAGGTGACAGAGGTGCAGAA	0.582000													30	108					0	0	1	0	0
ARNTL	406	broad.mit.edu	37	11	13380068	13380068	+	Silent	SNP	C	C	T	rs138340325	byFrequency	TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:13380068C>T	ENST00000389708.3	+	8	664	c.309C>T	c.(307-309)aaC>aaT	p.N103N	ARNTL_ENST00000403482.3_Silent_p.N101N|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000389707.4_Silent_p.N103N|ARNTL_ENST00000401424.1_Silent_p.N60N|ARNTL_ENST00000403290.1_Silent_p.N103N|ARNTL_ENST00000396441.3_Silent_p.N103N|ARNTL_ENST00000361003.4_Silent_p.N103N|ARNTL_ENST00000403510.3_Silent_p.N60N			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	103	Helix-loop-helix motif.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		CAACATGCAACGCAATGTCCA	0.413000													65	196					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2125869	2125869	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr16:2125869C>T	ENST00000219476.3	+	23	3245	c.2615C>T	c.(2614-2616)tCc>tTc	p.S872F	TSC2_ENST00000439673.2_Missense_Mutation_p.S835F|TSC2_ENST00000350773.4_Missense_Mutation_p.S872F|TSC2_ENST00000382538.6_Missense_Mutation_p.S823F|TSC2_ENST00000401874.2_Missense_Mutation_p.S872F|TSC2_ENST00000568454.1_Missense_Mutation_p.S883F|TSC2_ENST00000353929.4_Missense_Mutation_p.S872F	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	872					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TTCGCCATCTCCCTGCCGTAC	0.672000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				13	37					0	0	1	0	0
C11orf85	283129	broad.mit.edu	37	11	64707138	64707138	+	Silent	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:64707138G>A	ENST00000536065.1	-	11	1698	c.394C>T	c.(394-396)Cta>Tta	p.L132L	C11orf85_ENST00000301896.5_Silent_p.F216F|C11orf85_ENST00000530444.1_Silent_p.L160L|C11orf85_ENST00000432175.1_Silent_p.F216F			Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	0										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						TCTTACCTTAGAAACCCAAAG	0.522000													26	73					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46307620	46307620	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:46307620T>C	ENST00000510861.1	-	7	841	c.668A>G	c.(667-669)cAa>cGa	p.Q223R	GABRA2_ENST00000356504.1_Missense_Mutation_p.Q223R|GABRA2_ENST00000381620.4_Missense_Mutation_p.Q223R|GABRA2_ENST00000515082.1_Missense_Mutation_p.Q223R|GABRA2_ENST00000514090.1_Missense_Mutation_p.Q223R|GABRA2_ENST00000540012.1_Missense_Mutation_p.Q168R|GABRA2_ENST00000507069.1_Missense_Mutation_p.Q223R			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	223					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCCGATTGATTGGCCCAGCAG	0.373000													19	55					0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158151855	158151855	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:158151855A>C	ENST00000368171.3	+	4	861	c.362A>C	c.(361-363)gAg>gCg	p.E121A		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	121					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GCTGGCTGTGAGGTGCACCCT	0.473000													34	209					0	0	1	0	0
ELF1	1997	broad.mit.edu	37	13	41507750	41507750	+	Silent	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr13:41507750G>A	ENST00000239882.3	-	9	1985	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	ELF1_ENST00000442101.1_Silent_p.I533I|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	557					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CTTGAGTTTTGATAACTGAAG	0.458000													41	71					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53835318	53835318	+	Silent	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr3:53835318C>G	ENST00000288139.4	+	43	5452	c.5334C>G	c.(5332-5334)ctC>ctG	p.L1778L	CACNA1D_ENST00000422281.2_Silent_p.L1743L|CACNA1D_ENST00000350061.5_Silent_p.L1758L|CACNA1D_ENST00000544977.1_Silent_p.L137L	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ATGCCAATCTCAATAATGCCA	0.458000													17	49					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96293688	96293688	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr13:96293688T>C	ENST00000347108.3	-	3	890	c.458A>G	c.(457-459)cAc>cGc	p.H153R	DZIP1_ENST00000361396.2_Missense_Mutation_p.H153R|DZIP1_ENST00000361156.3_Missense_Mutation_p.H153R|DZIP1_ENST00000376829.2_Missense_Mutation_p.H153R|DZIP1_ENST00000466027.1_5'UTR			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	153					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GCCGTCGCAGTGGCTCAGGCG	0.602000													9	51					0	0	1	0	0
BEX1	55859	broad.mit.edu	37	X	102317904	102317904	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:102317904T>G	ENST00000372728.3	-	3	538	c.299A>C	c.(298-300)cAg>cCg	p.Q100P		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	100				Q -> R (in Ref. 4; BAF83647).	cell differentiation|nervous system development	cytoplasm|nucleus				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						ATGACTCAACTGCTTTTCCCT	0.498000													27	220					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11398900	11398900	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:11398900T>A	ENST00000227756.4	-	5	1217	c.806A>T	c.(805-807)aAg>aTg	p.K269M		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		CCGGTTCTCCTTGATGCGGGT	0.512000													19	51					0	0	1	0	0
MORC4	79710	broad.mit.edu	37	X	106186173	106186173	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:106186173T>C	ENST00000355610.4	-	15	2222	c.1948A>G	c.(1948-1950)Aaa>Gaa	p.K650E	MORC4_ENST00000255495.7_Missense_Mutation_p.K650E|MORC4_ENST00000535534.1_Missense_Mutation_p.K398E	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	650							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						CGTTGGTCTTTGGCCCCTGGA	0.458000													37	177					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70824256	70824256	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:70824256G>A	ENST00000373695.1	+	7	1666	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	ACRC_ENST00000373696.3_Missense_Mutation_p.E377K			Q96QF7	ACRC_HUMAN	acidic repeat containing	377						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGATCTTGGTGAGAATCTCAG	0.502000													5	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179642657	179642657	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:179642657A>G	ENST00000589042.1	-	25	4478	c.4254T>C	c.(4252-4254)tcT>tcC	p.S1418S	TTN_ENST00000591111.1_Silent_p.S1418S|TTN_ENST00000342175.6_Silent_p.S1372S|TTN_ENST00000359218.5_Silent_p.S1372S|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Silent_p.S1418S|TTN_ENST00000342992.6_Silent_p.S1418S|TTN_ENST00000460472.2_Silent_p.S1372S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1418	ZIS5.						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)			TCCGTGCAGGAGACATGCGTA	0.498000													15	35					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17052151	17052151	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr3:17052151A>C	ENST00000418129.2	+	2	1400	c.935A>C	c.(934-936)aAc>aCc	p.N312T	PLCL2_ENST00000396755.2_Missense_Mutation_p.N312T|PLCL2_ENST00000432376.1_Missense_Mutation_p.N312T|PLCL2_ENST00000460467.1_Intron	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	438					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TACTTTATAAACTCATCTCAT	0.388000													38	69					0	0	1	0	0
ATP6V1E1	529	broad.mit.edu	37	22	18102253	18102253	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr22:18102253C>T	ENST00000253413.5	-	2	255	c.73G>A	c.(73-75)Gag>Aag	p.E25K	ATP6V1E1_ENST00000478963.1_5'UTR|ATP6V1E1_ENST00000399796.2_Missense_Mutation_p.E25K|ATP6V1E1_ENST00000399798.2_Intron	NM_001696.3	NP_001687.1	P36543	VATE1_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1	25					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	10		all_epithelial(15;0.206)		Lung(27;0.19)		TCTGCTTTCTCATTGGCTTCT	0.269000													4	11					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31463386	31463386	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr18:31463386A>G	ENST00000261592.5	-	10	1842	c.1545T>C	c.(1543-1545)gaT>gaC	p.D515D	NOL4_ENST00000538587.1_Silent_p.D441D|NOL4_ENST00000269185.4_Silent_p.D299D|NOL4_ENST00000535475.1_Silent_p.D296D|NOL4_ENST00000535384.1_Silent_p.D230D|NOL4_ENST00000589544.1_Silent_p.D413D	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	515						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GAGCAGACTCATCCTGCAAGG	0.453000													14	58					0	0	1	0	0
BHLHE22	27319	broad.mit.edu	37	8	65493816	65493816	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr8:65493816G>A	ENST00000321870.1	+	1	1003	c.469G>A	c.(469-471)Gag>Aag	p.E157K	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	157	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						CGGTCGCTGCGAGCTCGTGCT	0.741000													4	5					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17039806	17039806	+	Silent	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:17039806G>C	ENST00000443236.1	-	24	3262	c.3231C>G	c.(3229-3231)ctC>ctG	p.L1077L		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1030						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CATCCCAGGAGAGGATCTTGG	0.567000													10	18					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8100664	8100664	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr10:8100664C>T	ENST00000379328.3	+	3	1206	c.638C>T	c.(637-639)tCg>tTg	p.S213L	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.S213L	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	213					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GGAGCCTCCTCGTCGACCCAC	0.682000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						38	127					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73812516	73812516	+	Nonsense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:73812516T>A	ENST00000332687.6	-	4	852	c.634A>T	c.(634-636)Aga>Tga	p.R212*	RLIM_ENST00000349225.2_Nonsense_Mutation_p.R212*	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	212					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCTGCTTCTTGCCCTCCTC	0.493000													21	140					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271342	59271342	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:59271342G>A	ENST00000313253.1	+	1	294	c.294G>A	c.(292-294)atG>atA	p.M98I		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CAAGCTGCATGACACAGATAT	0.473000													65	144					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676734	100676734	+	Silent	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr7:100676734A>T	ENST00000306151.4	+	3	2101	c.2037A>T	c.(2035-2037)ccA>ccT	p.P679P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	679	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGCATGCCAACCTCAACTT	0.488000													92	507					0	0	1	0	0
ZNF143	7702	broad.mit.edu	37	11	9499976	9499976	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:9499976A>G	ENST00000396602.2	+	6	532	c.413A>G	c.(412-414)gAa>gGa	p.E138G	ZNF143_ENST00000396604.1_Missense_Mutation_p.E137G|ZNF143_ENST00000530463.1_Missense_Mutation_p.E137G|ZNF143_ENST00000299606.2_Missense_Mutation_p.E110G|ZNF143_ENST00000396597.3_Missense_Mutation_p.E107G	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	138					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GTTCAGCTGGAAGATGGTACC	0.448000													26	110					0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66099832	66099832	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:66099832G>C	ENST00000311320.4	-	10	2393	c.2267C>G	c.(2266-2268)gCt>gGt	p.A756G	RIN1_ENST00000424433.2_Intron|RIN1_ENST00000530056.1_Missense_Mutation_p.A590G	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	756					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GCCCCCTTCAGCAGTTGTCTC	0.632000													66	188					0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327347	52327347	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:52327347A>G	ENST00000339223.4	+	2	525	c.346A>G	c.(346-348)Atc>Gtc	p.I116V	FPR3_ENST00000595991.1_Missense_Mutation_p.I116V	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	116					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TGTCTACCTGATCACCATCAT	0.493000													24	78					0	0	1	0	0
FERD3L	222894	broad.mit.edu	37	7	19184714	19184714	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr7:19184714C>A	ENST00000275461.3	-	1	330	c.272G>T	c.(271-273)cGc>cTc	p.R91L	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	91					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CCTCTTGGGGCGGCCTAATAG	0.607000													13	26					4.3838e-07	4.55504e-07	1	1	0
SLC1A6	6511	broad.mit.edu	37	19	15079206	15079206	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:15079206T>A	ENST00000598504.1	-	6	1816	c.457A>T	c.(457-459)Atc>Ttc	p.I153F	SLC1A6_ENST00000544886.2_Missense_Mutation_p.I153F|SLC1A6_ENST00000221742.3_Missense_Mutation_p.I153F|SLC1A6_ENST00000600144.1_Missense_Mutation_p.I153F|SLC1A6_ENST00000430939.2_Intron	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	153					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CCGGGATGGATGATGGTGACC	0.617000													6	16					0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118771612	118771612	+	Missense_Mutation	SNP	G	G	A	rs139195814		TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:118771612G>A	ENST00000334801.3	-	6	3804	c.2840C>T	c.(2839-2841)tCg>tTg	p.S947L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	947	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	p.S947L(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGCAGAGGGCGAGGTGACCAG	0.622000													35	67					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28789684	28789684	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:28789684C>G	ENST00000422425.2	+	20	1379	c.1335C>G	c.(1333-1335)atC>atG	p.I445M	PLB1_ENST00000329020.6_Missense_Mutation_p.I122M|PLB1_ENST00000327757.5_Missense_Mutation_p.I434M	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	434	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ATGAGAACATCGGCACCGTTA	0.622000											OREG0014523	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	155					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7059796	7059796	+	Splice_Site	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:7059796G>C	ENST00000299481.4	+	2	325		c.e2-1			NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14						cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TCCCCCCACAGAGGCCTGAAT	0.338000													13	73					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131795950	131795950	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr8:131795950A>G	ENST00000286355.5	-	17	5347	c.3255T>C	c.(3253-3255)ttT>ttC	p.F1085F	ADCY8_ENST00000377928.3_Silent_p.F954F	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1085					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCCGGAGTTCAAAATTGTTGA	0.512000										HNSCC(32;0.087)			19	51					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107408248	107408248	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:107408248G>T	ENST00000334504.7	-	39	4062	c.3829C>A	c.(3829-3831)Ccc>Acc	p.P1277T	COL4A6_ENST00000372216.4_Missense_Mutation_p.P1278T|COL4A6_ENST00000394872.2_Missense_Mutation_p.P1278T|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1253T|COL4A6_ENST00000545689.1_Missense_Mutation_p.P1253T	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1278	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGACCTGGGGGTCCAGCGGGG	0.627000									Alport syndrome with Diffuse Leiomyomatosis				20	71					8.10497e-08	8.43805e-08	1	1	0
NUDT9	53343	broad.mit.edu	37	4	88356221	88356221	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:88356221C>T	ENST00000473942.1	+	2	168	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	NUDT9_ENST00000302174.4_Missense_Mutation_p.R66W	NM_198038.2	NP_932155.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	66						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		CAATAAGGCTCGGACGTCTCC	0.433000													9	40					0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729463	41729463	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr7:41729463T>A	ENST00000242208.4	-	3	1312	c.1066A>T	c.(1066-1068)Agc>Tgc	p.S356C	INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.S356C	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	356					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCTATATGGCTCGGGCACTCA	0.532000										TSP Lung(11;0.080)			50	87					0	0	1	0	0
FAM212B	55924	broad.mit.edu	37	1	112281853	112281853	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:112281853C>T	ENST00000357260.5	-	1	193	c.12G>A	c.(10-12)gaG>gaA	p.E4E	FAM212B_ENST00000534365.1_Silent_p.E4E|FAM212B_ENST00000444059.2_Intron	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	4										cervix(1)|endometrium(1)	2						TTTCCCTGCTCTCCATCGTCA	0.672000													8	32					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58275713	58275713	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:58275713C>T	ENST00000300896.4	-	27	3536	c.3342G>A	c.(3340-3342)cgG>cgA	p.R1114R	USP32_ENST00000592339.1_Silent_p.R784R	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1114					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GGTCTTTCTTCCGGGTATGCA	0.478000													40	107					0	0	1	0	0
NKX2-1	7080	broad.mit.edu	37	14	36988561	36988561	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr14:36988561A>G	ENST00000354822.5	-	2	190	c.92T>C	c.(91-93)aTg>aCg	p.M31T	NKX2-1_ENST00000522719.2_Start_Codon_SNP_p.M1T|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000518149.1_Start_Codon_SNP_p.M1T|NKX2-1_ENST00000498187.2_Start_Codon_SNP_p.M1T	NM_001079668.2	NP_001073136.1	P43699	NKX21_HUMAN	NK2 homeobox 1	1					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		ACTCATCGACATGATTCGGCG	0.542000			A		NSCLC								18	18					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149883409	149883409	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:149883409G>A	ENST00000369146.3	-	3	1236	c.746C>T	c.(745-747)tCa>tTa	p.S249L	SV2A_ENST00000369145.1_Missense_Mutation_p.S249L	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	249					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GACAAAAGATGAGAAGAAGGC	0.577000													27	40					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5105192	5105192	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr7:5105192G>A	ENST00000396912.1	+	5	2624	c.2105G>A	c.(2104-2106)aGa>aAa	p.R702K	RBAK_ENST00000353796.3_Missense_Mutation_p.R702K|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	702	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AGAATTCATAGAAGAGGAAAT	0.368000													46	102					0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678918	130678918	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:130678918C>A	ENST00000338616.3	+	1	969	c.871C>A	c.(871-873)Ctg>Atg	p.L291M		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L291M(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					GATATATAGCCTGAGAAAAAA	0.398000													40	101					3.61848e-18	3.86552e-18	1	1	0
PEMT	10400	broad.mit.edu	37	17	17415891	17415891	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:17415891A>G	ENST00000395781.2	-	4	479	c.398T>C	c.(397-399)cTc>cCc	p.L133P	PEMT_ENST00000484838.2_5'UTR|PEMT_ENST00000435340.2_Missense_Mutation_p.L111P|PEMT_ENST00000255389.5_Missense_Mutation_p.L133P|PEMT_ENST00000395782.1_Missense_Mutation_p.L96P|PEMT_ENST00000395783.1_Missense_Mutation_p.L96P	NM_001267552.1	NP_001254481.1	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	96					cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		CAGTCCCAGGAGCGCGAGGCC	0.662000													3	19					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215866332	215866332	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:215866332T>A	ENST00000272895.7	-	21	3032	c.2813A>T	c.(2812-2814)gAa>gTa	p.E938V	ABCA12_ENST00000389661.4_Missense_Mutation_p.E620V	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	938					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTCTCCATTTCATCTATGGT	0.388000													51	82					0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750249	142750249	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr7:142750249T>C	ENST00000418316.1	+	1	833	c.812T>C	c.(811-813)gTc>gCc	p.V271A		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GTCAGGAAGGTCGTGGCCTTG	0.502000													30	74					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110804792	110804792	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr13:110804792T>A	ENST00000375820.4	-	51	4938	c.4817A>T	c.(4816-4818)gAg>gTg	p.E1606V		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1606	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCTAAACTCCTCCAGGCAGGA	0.602000													8	22					0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17757672	17757672	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:17757672C>T	ENST00000379472.3	+	1	153	c.123C>T	c.(121-123)gaC>gaT	p.D41D	KCNC1_ENST00000265969.6_Silent_p.D41D	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	41						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CGGAGCCCGACGCCCACAGCC	0.687000													3	41					0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44804047	44804047	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr7:44804047C>T	ENST00000309315.4	+	14	2013	c.1890C>T	c.(1888-1890)ctC>ctT	p.L630L	ZMIZ2_ENST00000433667.1_Silent_p.L598L|ZMIZ2_ENST00000265346.7_Silent_p.L604L|ZMIZ2_ENST00000413916.1_Silent_p.L572L|ZMIZ2_ENST00000441627.1_Silent_p.L630L	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	630					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ACCTGCAGCTCAACTGTGAGC	0.522000													25	53					0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48286133	48286133	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:48286133C>T	ENST00000320048.1	+	1	721	c.721C>T	c.(721-723)Cat>Tat	p.H241Y		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CTGTGCCTCTCATGTCACAGT	0.507000													35	91					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906269	129906269	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr10:129906269C>G	ENST00000368654.3	-	13	4210	c.3835G>C	c.(3835-3837)Gag>Cag	p.E1279Q	MKI67_ENST00000368653.3_Missense_Mutation_p.E919Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1279	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGTTCTCCCTCTACATCTGCT	0.478000													56	135					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990843	39990843	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr20:39990843A>T	ENST00000332312.3	-	4	1558	c.1366T>A	c.(1366-1368)Ttg>Atg	p.L456M		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	456						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CCCATGTCCAACCTCAGACAG	0.637000													50	127					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47266046	47266046	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr20:47266046A>T	ENST00000396220.1	-	25	3119	c.3097T>A	c.(3097-3099)Ttg>Atg	p.L1033M	PREX1_ENST00000371941.3_Missense_Mutation_p.L1033M			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1033					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCAGCAGGCAAGCACTTCCAG	0.617000													5	16					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31792942	31792942	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr14:31792942C>A	ENST00000543095.2	-	24	3800	c.3616G>T	c.(3616-3618)Gtc>Ttc	p.V1206F	HEATR5A_ENST00000389961.3_Missense_Mutation_p.V1200F|HEATR5A_ENST00000439727.1_Missense_Mutation_p.V913F|HEATR5A_ENST00000439348.1_Missense_Mutation_p.V1200F	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1200							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GTGGTCAGGACTGAGGCATCA	0.393000													31	68					1.36161e-19	1.46635e-19	1	1	0
MAGI2	9863	broad.mit.edu	37	7	78256482	78256482	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr7:78256482C>T	ENST00000354212.4	-	3	745	c.492G>A	c.(490-492)atG>atA	p.M164I	MAGI2_ENST00000522391.1_Missense_Mutation_p.M164I|MAGI2_ENST00000535697.1_Start_Codon_SNP_p.M1I|MAGI2_ENST00000536571.1_5'UTR|MAGI2_ENST00000419488.1_Missense_Mutation_p.M164I	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	164	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCTCCAATTCCATAAAATCTT	0.393000													7	61					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3242731	3242731	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:3242731A>G	ENST00000217939.6	-	5	1149	c.995T>C	c.(994-996)tTg>tCg	p.L332S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	332						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCACAGACCAAGTTCACCAT	0.468000													10	22					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142266679	142266679	+	Missense_Mutation	SNP	C	C	T	rs146504354		TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr3:142266679C>T	ENST00000350721.4	-	16	3366	c.3245G>A	c.(3244-3246)cGt>cAt	p.R1082H	ATR_ENST00000383101.3_Missense_Mutation_p.R1018H	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1082					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.R1082H(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTCTCCAATACGCAGCAATAA	0.373000								Other conserved DNA damage response genes					8	59					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171243633	171243633	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:171243633G>T	ENST00000334231.6	+	14	1419	c.1419G>T	c.(1417-1419)ttG>ttT	p.L473F	MYO3B_ENST00000409044.3_Missense_Mutation_p.L464F|MYO3B_ENST00000408978.4_Missense_Mutation_p.L464F|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	464	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ATCAGACCTTGAGAGAGAAAA	0.473000													7	72					0.00307968	0.00312074	1	1	0
OR8H1	219469	broad.mit.edu	37	11	56057739	56057739	+	Nonsense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:56057739A>T	ENST00000313022.2	-	1	827	c.800T>A	c.(799-801)tTg>tAg	p.L267*		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					ATCCCTTCCCAAAGAATAAGA	0.348000													16	78					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56436334	56436334	+	Splice_Site	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:56436334T>A	ENST00000588751.1	-	2	411	c.387A>T	c.(385-387)gcA>gcT	p.A129A	NLRP13_ENST00000342929.3_Splice_Site_p.A129A			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	129							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGTACACACCTGCTGCTGCTT	0.433000													13	47					0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190921992	190921992	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:190921992A>G	ENST00000260950.4	-	3	1252	c.1120T>C	c.(1120-1122)Tgc>Cgc	p.C374R	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	374					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TCTCATGAGCACCCACAGCGG	0.363000													21	23					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62324281	62324281	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr20:62324281G>A	ENST00000318100.4	+	29	3603	c.2776G>A	c.(2776-2778)Gat>Aat	p.D926N	RTEL1_ENST00000360203.5_Missense_Mutation_p.D926N|RTEL1_ENST00000370003.1_Missense_Mutation_p.D171N|RTEL1_ENST00000508582.2_Missense_Mutation_p.D950N|RTEL1_ENST00000370018.3_Missense_Mutation_p.D926N|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.D926N	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	926					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CAAGGGTTCCGATGACTTCGC	0.632000													80	226					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121432060	121432060	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr12:121432060C>T	ENST00000257555.6	+	4	1033	c.807C>T	c.(805-807)gcC>gcT	p.A269A	HNF1A_ENST00000402929.1_Silent_p.A269A|HNF1A_ENST00000400024.2_Silent_p.A269A|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000543427.1_Silent_p.A152A|HNF1A_ENST00000541395.1_Silent_p.A269A|HNF1A_ENST00000544413.1_Silent_p.A269A			P20823	HNF1A_HUMAN	HNF1 homeobox A	269					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACTGGTTTGCCAACCGGCGCA	0.662000									Hepatic Adenoma, Familial Clustering of				18	18					0	0	1	0	0
CALCB	797	broad.mit.edu	37	11	15096700	15096700	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:15096700G>A	ENST00000523376.1	+	8	1475	c.213G>A	c.(211-213)atG>atA	p.M71I	CALCB_ENST00000533448.1_Missense_Mutation_p.M60I|CALCB_ENST00000324229.6_Missense_Mutation_p.M60I			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	60					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						ATGTGCAGATGAAGGCCAGTG	0.632000											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	78					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112622403	112622403	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:112622403G>C	ENST00000341068.3	-	8	1583	c.811C>G	c.(811-813)Ctc>Gtc	p.L271V		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	271					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						ACTCTCCGGAGAGTCCACACA	0.423000													13	52					0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39374613	39374613	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr3:39374613A>G	ENST00000326306.4	+	2	929	c.791A>G	c.(790-792)cAc>cGc	p.H264R	CCR8_ENST00000414803.1_3'UTR|CCR8_ENST00000545843.1_Missense_Mutation_p.H181R	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	264					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		ACTTCCTTGCACAGTATGCAC	0.458000													4	43					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32845790	32845790	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:32845790A>T	ENST00000311921.4	+	2	2246	c.2054A>T	c.(2053-2055)gAg>gTg	p.E685V	ZNF507_ENST00000544431.1_Missense_Mutation_p.E685V|ZNF507_ENST00000355898.5_Missense_Mutation_p.E685V	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AAAGATTTGGAGAGTCACATG	0.448000													20	74					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24653001	24653001	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr14:24653001G>C	ENST00000354464.6	-	19	2149	c.1973C>G	c.(1972-1974)tCa>tGa	p.S658*	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	658					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TGAGATCTCTGAGTCATCCTC	0.522000													22	163					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71570252	71570252	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr14:71570252A>T	ENST00000304743.2	+	32	6407	c.5961A>T	c.(5959-5961)caA>caT	p.Q1987H	PCNX_ENST00000238570.5_Missense_Mutation_p.Q1915H|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.Q1876H	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1987						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTTGTGATCAACCTATTGGCT	0.453000													10	99					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21143908	21143908	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:21143908C>T	ENST00000602326.1	-	32	4925	c.4342G>A	c.(4342-4344)Gaa>Aaa	p.E1448K	EIF4G3_ENST00000536266.1_Missense_Mutation_p.E1046K|EIF4G3_ENST00000264211.8_Missense_Mutation_p.E1442K|EIF4G3_ENST00000374935.3_Missense_Mutation_p.E1162K|EIF4G3_ENST00000537738.1_Missense_Mutation_p.E932K|EIF4G3_ENST00000374937.3_Missense_Mutation_p.E1448K|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E1442K	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1442	EIF4A-binding (By similarity).|W2.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AAGATCTGTTCATCATTCGCT	0.433000													21	55					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111786115	111786115	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr12:111786115G>C	ENST00000261726.6	+	22	4601	c.4447G>C	c.(4447-4449)Gag>Cag	p.E1483Q		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1483						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGAGGCCCTGGAGTGGGAGTT	0.567000													20	102					0	0	1	0	0
ALYREF	10189	broad.mit.edu	37	17	79848567	79848567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:79848567G>A	ENST00000331204.4	-	2	393	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	ALYREF_ENST00000505490.2_Nonsense_Mutation_p.Q130*|ALYREF_ENST00000512673.1_5'UTR	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	123	Ala/Arg/Gly-rich.|RRM.				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										TCTCTTACCTGAATATCGGCG	0.587000													13	69					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147733616	147733616	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:147733616T>C	ENST00000370460.2	+	2	623	c.144T>C	c.(142-144)ttT>ttC	p.F48F	AFF2_ENST00000370458.1_Silent_p.F48F|AFF2_ENST00000370457.5_Silent_p.F48F|AFF2_ENST00000342251.3_Silent_p.F48F	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	48					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCAGGCTTTGATCTTTTTG	0.383000													21	167					0	0	1	0	0
GMFB	2764	broad.mit.edu	37	14	54948169	54948169	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr14:54948169G>A	ENST00000358056.3	-	4	426	c.158C>T	c.(157-159)tCa>tTa	p.S53L	GMFB_ENST00000554908.1_Silent_p.F36F|GMFB_ENST00000553566.1_5'UTR	NM_004124.2	NP_004115.1	P60983	GMFB_HUMAN	glia maturation factor, beta	53	ADF-H.				nervous system development|protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)	8						TTCATCTGGTGAAATGCCCTG	0.363000													9	49					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089227	9089227	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:9089227C>T	ENST00000397910.4	-	1	2791	c.2588G>A	c.(2587-2589)gGa>gAa	p.G863E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	863	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTTTCTTCTCCACTAGTAAA	0.478000													10	47					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947968	237947968	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:237947968T>A	ENST00000366574.2	+	90	13273	c.12956T>A	c.(12955-12957)gTc>gAc	p.V4319D	RYR2_ENST00000360064.6_Missense_Mutation_p.V4325D|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.V4303D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4319					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAAGCCTCGTCGAAGGTGCT	0.512000													12	74					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875922	247875922	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:247875922A>G	ENST00000302084.2	-	1	183	c.136T>C	c.(136-138)Ttg>Ctg	p.L46L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACCAACATCAAGATAGCCACA	0.468000													28	181					0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149642008	149642008	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:149642008T>C	ENST00000370401.2	+	5	2284	c.1974T>C	c.(1972-1974)caT>caC	p.H658H	MAMLD1_ENST00000455522.2_Intron|MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000262858.5_Silent_p.H658H|MAMLD1_ENST00000426613.2_Silent_p.H633H			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	658					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCCAGCATCAACACGGGA	0.483000													21	120					0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56586341	56586341	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr18:56586341C>T	ENST00000336078.4	+	4	1598	c.822C>T	c.(820-822)atC>atT	p.I274I	ZNF532_ENST00000589288.1_Silent_p.I274I|ZNF532_ENST00000591230.1_Silent_p.I274I|ZNF532_ENST00000591083.1_Silent_p.I274I|ZNF532_ENST00000591808.1_Silent_p.I274I	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TCGCTGCCATCGCGGCTCTCA	0.547000													29	107					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43328427	43328427	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr15:43328427C>T	ENST00000290650.4	-	19	2217	c.2139G>A	c.(2137-2139)caG>caA	p.Q713Q	UBR1_ENST00000382177.2_Silent_p.Q713Q	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	713					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GTTCATACCTCTGAAGTACCA	0.328000													64	125					0	0	1	0	0
FAM71F2	346653	broad.mit.edu	37	7	128317750	128317750	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr7:128317750C>A	ENST00000480462.1	+	3	604	c.498C>A	c.(496-498)ttC>ttA	p.F166L	FAM71F2_ENST00000378704.3_Missense_Mutation_p.F157L|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Intron			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	166										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						TGTTTCAATTCTGGGTCCGCT	0.507000													17	53					1.33834e-09	1.40989e-09	1	1	0
FAM155B	27112	broad.mit.edu	37	X	68749658	68749658	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:68749658C>T	ENST00000252338.4	+	3	1320	c.1278C>T	c.(1276-1278)ctC>ctT	p.L426L		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	427						integral to membrane		p.L426L(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GCTCCCGCCTCAGCCCTAGCA	0.627000													8	66					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79030530	79030530	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr5:79030530C>T	ENST00000446378.2	+	2	5973	c.5942C>T	c.(5941-5943)tCt>tTt	p.S1981F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1981						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAAGTTACTCTTCTGAAGAA	0.403000													21	43					0	0	1	0	0
RPS7	6201	broad.mit.edu	37	2	3627712	3627712	+	Silent	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:3627712A>T	ENST00000407445.3	+	6	416	c.369A>T	c.(367-369)acA>acT	p.T123T	RPS7_ENST00000406376.1_Silent_p.T123T|RPS7_ENST00000403564.1_Silent_p.T123T|RPS7_ENST00000304921.5_Silent_p.T123T			P62081	RS7_HUMAN	ribosomal protein S7	123					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		GTACTCTGACAGCTGTGCACG	0.488000													41	127					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102339338	102339338	+	Nonsense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:102339338T>A	ENST00000395065.3	-	3	384	c.283A>T	c.(283-285)Aaa>Taa	p.K95*	NXF3_ENST00000425463.2_Nonsense_Mutation_p.K6*|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	95						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCTGGAGGTTTTTGCTCTCTC	0.473000													32	161					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25373577	25373577	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr13:25373577C>G	ENST00000255324.5	+	12	1496	c.1444C>G	c.(1444-1446)Cga>Gga	p.R482G	RNF17_ENST00000255325.6_Missense_Mutation_p.R482G|RNF17_ENST00000381921.1_Missense_Mutation_p.R482G	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	482					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AATGTGGTGTCGAGGAACTAT	0.328000													7	104					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67652755	67652755	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:67652755G>C	ENST00000355520.5	-	2	749	c.108C>G	c.(106-108)atC>atG	p.I36M	OPHN1_ENST00000540071.1_Missense_Mutation_p.I36M	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	36					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TTACGTCTTTGATGAATTTGT	0.517000													17	44					0	0	1	0	0
TPRX1	284355	broad.mit.edu	37	19	48305214	48305214	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:48305214G>C	ENST00000535759.1	-	4	1344	c.1345C>G	c.(1345-1347)Cac>Gac	p.H449D	TPRX1_ENST00000543508.1_Missense_Mutation_p.H342D|TPRX1_ENST00000322175.3_Missense_Mutation_p.H352D			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	352						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		TCTGTGAAGTGAGGGAATAAC	0.577000													15	119					0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109845605	109845605	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr12:109845605T>A	ENST00000310903.5	+	10	1100	c.994T>A	c.(994-996)Tgc>Agc	p.C332S	MYO1H_ENST00000431443.2_Missense_Mutation_p.C332S|MYO1H_ENST00000542883.1_3'UTR			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TCAGGTGATCTGCCCGTTGAC	0.388000													17	44					0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22313044	22313044	+	Silent	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:22313044C>G	ENST00000337107.6	+	7	682	c.663C>G	c.(661-663)ctC>ctG	p.L221L	CELA3B_ENST00000473526.1_3'UTR	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	221	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GAGGACCCCTCAACTGCCCCA	0.572000													5	75					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28855860	28855860	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:28855860C>T	ENST00000422425.2	+	55	4063	c.4019C>T	c.(4018-4020)tCa>tTa	p.S1340L	PLB1_ENST00000327757.5_Missense_Mutation_p.S1351L|PLB1_ENST00000541605.1_Missense_Mutation_p.S316L	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1351	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TTTCACTTCTCAGACCGCGGG	0.562000													26	108					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57101724	57101724	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr16:57101724G>C	ENST00000436936.1	+	36	4708	c.4483G>C	c.(4483-4485)Gag>Cag	p.E1495Q	NLRC5_ENST00000262510.6_Missense_Mutation_p.E1495Q|NLRC5_ENST00000308149.7_Missense_Mutation_p.E1466Q|NLRC5_ENST00000539144.1_Missense_Mutation_p.E1466Q			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1495					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTCCCTCTCTGAGCTGAAGAC	0.537000													30	62					0	0	1	0	0
PABPC5	140886	broad.mit.edu	37	X	90691592	90691592	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:90691592A>C	ENST00000312600.3	+	2	1230	c.1016A>C	c.(1015-1017)cAa>cCa	p.Q339P	PABPC5_ENST00000373105.1_Missense_Mutation_p.Q175P	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	339	RRM 4.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GAAGTGGGGCAAGGCAAAGGA	0.458000													25	71					0	0	1	0	0
RGS4	5999	broad.mit.edu	37	1	163044180	163044180	+	Nonstop_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:163044180G>C	ENST00000367908.4	+	4	405	c.281G>C	c.(280-282)tGa>tCa	p.*94S	RGS4_ENST00000367906.3_Missense_Mutation_p.D132H|RGS4_ENST00000421743.2_Missense_Mutation_p.D247H|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367909.6_Missense_Mutation_p.D150H|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000527809.1_Missense_Mutation_p.D132H	NM_001113381.1	NP_001106852.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	0	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						AACCTGCTTTGATGAGGCCCA	0.502000													141	417					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85097545	85097545	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:85097545C>T	ENST00000335459.5	-	2	678	c.473G>A	c.(472-474)gGa>gAa	p.G158E	TRABD2A_ENST00000409133.1_Missense_Mutation_p.G158E|TRABD2A_ENST00000409520.2_Missense_Mutation_p.G158E	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		CTCCCAGTTTCCGGCAATAGC	0.562000													37	122					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161214692	161214692	+	Nonsense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr3:161214692A>T	ENST00000327928.4	+	1	97	c.97A>T	c.(97-99)Aag>Tag	p.K33*		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	33						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CAAATTTACGAAGAAATCTGA	0.408000													5	34					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23907320	23907320	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr13:23907320T>C	ENST00000382298.3	-	10	11283	c.10695A>G	c.(10693-10695)aaA>aaG	p.K3565K	SACS_ENST00000382292.3_Silent_p.K3565K|SACS_ENST00000402364.1_Silent_p.K2815K	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3565					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTTGTTCCAATTTCTTAAAGA	0.308000													6	28					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900638	123900638	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:123900638T>A	ENST00000431524.1	+	1	342	c.309T>A	c.(307-309)ttT>ttA	p.F103L		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCTATTTCTTTCACTTCCTAG	0.537000													13	119					0	0	1	0	0
GOLGA8A	23015	broad.mit.edu	37	15	34673686	34673686	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr15:34673686C>A	ENST00000543376.1	-	23	4063	c.1309G>T	c.(1309-1311)Gag>Tag	p.E437*	GOLGA8A_ENST00000432566.2_Nonsense_Mutation_p.E610*|GOLGA8A_ENST00000360553.3_Nonsense_Mutation_p.E580*|GOLGA8A_ENST00000359187.4_Nonsense_Mutation_p.E580*			A7E2F4	GOG8A_HUMAN	golgin A8 family, member A	608						Golgi cisterna membrane							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CCTGGGTGCTCCTGGTGGTCC	0.582000													9	97					0.00010058	0.000103498	1	1	0
NOTCH2	4853	broad.mit.edu	37	1	120458622	120458622	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:120458622C>G	ENST00000256646.2	-	34	6942	c.6723G>C	c.(6721-6723)ttG>ttC	p.L2241F		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2241					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAGCCTACTCAAGCTTCCAG	0.557000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				20	94					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173734855	173734855	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:173734855G>C	ENST00000506823.1	+	7	1561	c.904G>C	c.(904-906)Gat>Cat	p.D302H	GALNTL6_ENST00000508122.1_Missense_Mutation_p.D285H	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	302						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CCAGAGGGCAGATCCCAGCGA	0.562000													5	41					0	0	1	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25226221	25226221	+	Silent	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr10:25226221T>A	ENST00000320152.6	-	3	259	c.231A>T	c.(229-231)ggA>ggT	p.G77G	PRTFDC1_ENST00000376376.3_Silent_p.G77G|PRTFDC1_ENST00000376378.1_Silent_p.G77G	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	77					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						ATTTGTAACCTCCTTTAAGCA	0.373000													10	105					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210558900	210558900	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:210558900A>G	ENST00000360351.4	+	7	2512	c.2006A>G	c.(2005-2007)gAg>gGg	p.E669G	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E665G	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	669					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GTGTATGGAGAGAAAAGGGAC	0.428000													32	60					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861887	52861887	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:52861887T>C	ENST00000343457.3	-	4	1307	c.1301A>G	c.(1300-1302)cAc>cGc	p.H434R		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	434						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTGTGGTGTGTGCCCCGCAGC	0.552000													17	115					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54424091	54424091	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr18:54424091A>G	ENST00000254442.3	+	15	2478	c.2267A>G	c.(2266-2268)gAa>gGa	p.E756G	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.E756G	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	756										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AACATCAAGGAACACCTCCTT	0.448000													13	36					0	0	1	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000519970.1_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													4	100					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18741270	18741270	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:18741270T>A	ENST00000513874.1	-	7	828	c.689A>T	c.(688-690)gAg>gTg	p.E230V	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	230										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TACCTCCACCTCTACTTTCTT	0.527000													37	101					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924950	70924950	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr14:70924950T>A	ENST00000603540.1	+	2	992	c.734T>A	c.(733-735)aTg>aAg	p.M245K	ADAM21_ENST00000267499.3_Missense_Mutation_p.M245K|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	245	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GTGGATTCCATGTATAAGCAG	0.358000													13	93					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466261	179466261	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:179466261A>G	ENST00000589042.1	-	287	55687	c.55463T>C	c.(55462-55464)gTc>gCc	p.V18488A	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V16847A|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V9615A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V9548A|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V15920A|TTN_ENST00000460472.2_Missense_Mutation_p.V9423A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16847	Ig-like 106.						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)			GATATCACTGACTTTCAGATC	0.388000													62	112					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70503921	70503921	+	Missense_Mutation	SNP	A	A	C	rs146798900		TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:70503921A>C	ENST00000310961.5	+	22	2733	c.2315A>C	c.(2314-2316)aAc>aCc	p.N772T	LRRC7_ENST00000415775.2_Missense_Mutation_p.N51T|LRRC7_ENST00000035383.5_Missense_Mutation_p.N767T			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	767						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTCACTGACAACTGGACTGAT	0.498000													67	150					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5187905	5187905	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr5:5187905T>G	ENST00000274181.7	+	6	1169	c.1031T>G	c.(1030-1032)cTt>cGt	p.L344R	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.L344R	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	344	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGTCTGATTCTTCTAGAAGAT	0.308000													12	78					0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028681	102028681	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr14:102028681C>T	ENST00000510508.4	+	1	994	c.848C>T	c.(847-849)tCt>tTt	p.S283F	DIO3_ENST00000359323.3_Missense_Mutation_p.S257F			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	257					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TACCAGGTCTCTGAGCTGCGC	0.592000													7	72					0	0	1	0	0
UFSP2	55325	broad.mit.edu	37	4	186329122	186329122	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:186329122C>T	ENST00000264689.6	-	9	1205	c.1089G>A	c.(1087-1089)ttG>ttA	p.L363L		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	363						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		TTATACCGATCAATTGGTTTA	0.388000													6	50					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129147288	129147288	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:129147288A>G	ENST00000540052.1	+	3	584	c.540A>G	c.(538-540)ggA>ggG	p.G180G	BCORL1_ENST00000303743.5_Silent_p.G180G|BCORL1_ENST00000359304.2_Silent_p.G180G|BCORL1_ENST00000218147.7_Silent_p.G180G	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	180					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAACTCTGGGAACTGGAGTCC	0.562000													20	154					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114483128	114483128	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:114483128A>T	ENST00000369558.1	+	2	355	c.123A>T	c.(121-123)aaA>aaT	p.K41N	HIPK1_ENST00000426820.2_Missense_Mutation_p.K41N|HIPK1_ENST00000369561.4_Missense_Mutation_p.K41N|HIPK1_ENST00000369555.2_Missense_Mutation_p.K41N|HIPK1_ENST00000369554.2_Missense_Mutation_p.K41N|HIPK1_ENST00000369559.4_Missense_Mutation_p.K41N			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAACGACAAATATTATACCC	0.522000													159	355					0	0	1	0	0
TMEM164	84187	broad.mit.edu	37	X	109247194	109247194	+	Silent	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:109247194G>A	ENST00000372073.1	+	2	528	c.192G>A	c.(190-192)acG>acA	p.T64T	TMEM164_ENST00000288381.4_Silent_p.T64T|TMEM164_ENST00000372072.3_Intron|TMEM164_ENST00000372068.2_Silent_p.T64T			Q5U3C3	TM164_HUMAN	transmembrane protein 164	64						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						TGAGGCAGACGAAGGAGGACG	0.622000													21	124					0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107379800	107379800	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr9:107379800T>A	ENST00000259362.1	-	1	685	c.686A>T	c.(685-687)cAc>cTc	p.H229L		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						CTCAGAGGAGTGAATCTTGAG	0.438000													20	65					0	0	1	0	0
DEFB136	613210	broad.mit.edu	37	8	11831549	11831549	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr8:11831549G>A	ENST00000382209.2	-	2	133	c.134C>T	c.(133-135)cCg>cTg	p.P45L		NM_001033018.2	NP_001028190.2	Q30KP8	DB136_HUMAN	defensin, beta 136	45					defense response to bacterium	extracellular region				endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		GTATCCTGGCGGACACCCGAA	0.488000													8	222					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72285798	72285798	+	Nonsense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:72285798T>A	ENST00000579490.1	+	4	839	c.704T>A	c.(703-705)tTg>tAg	p.L235*	DNAI2_ENST00000307504.5_Nonsense_Mutation_p.L35*|DNAI2_ENST00000582036.1_Nonsense_Mutation_p.L178*|DNAI2_ENST00000311014.6_Nonsense_Mutation_p.L178*|DNAI2_ENST00000446837.2_Nonsense_Mutation_p.L178*			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	178					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AACAGGAAGTTGGCAGTGGCA	0.597000									Kartagener syndrome				21	35					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581628	140581628	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr5:140581628A>G	ENST00000354757.3	+	1	2281	c.2281A>G	c.(2281-2283)Aca>Gca	p.T761A	PCDHB11_ENST00000536699.1_Missense_Mutation_p.T396A	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		761					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTTCCGAGACAAATGAATT	0.512000													44	85					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39853529	39853529	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:39853529C>T	ENST00000564288.1	+	58	15792	c.15015C>T	c.(15013-15015)ctC>ctT	p.L5005L	MACF1_ENST00000372915.3_Silent_p.L5010L|MACF1_ENST00000539005.1_Silent_p.L2922L|MACF1_ENST00000545844.1_Silent_p.L2943L|MACF1_ENST00000361689.2_Silent_p.L2943L|MACF1_ENST00000317713.7_Silent_p.L2943L|MACF1_ENST00000289893.4_Silent_p.L3445L|MACF1_ENST00000567887.1_Silent_p.L5042L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5010					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGGGTCACTCGAAGAAATGA	0.468000													35	73					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136362542	136362542	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:136362542G>A	ENST00000264160.4	+	3	497	c.127G>A	c.(127-129)Gta>Ata	p.V43I	R3HDM1_ENST00000409606.1_Missense_Mutation_p.V43I|R3HDM1_ENST00000329971.3_Missense_Mutation_p.V43I|R3HDM1_ENST00000409478.1_Missense_Mutation_p.V43I|R3HDM1_ENST00000410054.1_Intron	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	43							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GAAGATTTTGGTAGAGAAGAA	0.308000													27	30					0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73011604	73011604	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr7:73011604T>A	ENST00000313375.3	-	9	1558	c.1511A>T	c.(1510-1512)aAa>aTa	p.K504I	MLXIPL_ENST00000434326.1_Missense_Mutation_p.K411I|MLXIPL_ENST00000429400.2_Missense_Mutation_p.K504I|MLXIPL_ENST00000395189.1_Missense_Mutation_p.K411I|MLXIPL_ENST00000354613.1_Missense_Mutation_p.K504I|MLXIPL_ENST00000414749.2_Missense_Mutation_p.K504I	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	504					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGGCTGGCTTTCTGTCCCCT	0.652000													5	8					0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35850669	35850669	+	Silent	SNP	A	A	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:35850669A>C	ENST00000327809.4	+	2	1078	c.877A>C	c.(877-879)Agg>Cgg	p.R293R	FFAR3_ENST00000594310.1_Silent_p.R293R	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	293						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GCTGCTGAGGAGGTTGTGTGG	0.597000													15	87					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999520	46999520	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr10:46999520G>A	ENST00000374314.4	+	1	1595	c.640G>A	c.(640-642)Gag>Aag	p.E214K	GPRIN2_ENST00000374317.1_Missense_Mutation_p.E214K			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	214										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TGCCCAGGCTGAGCCCAAAGC	0.617000													8	29					0	0	1	0	0
SSX3	10214	broad.mit.edu	37	X	48208987	48208987	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:48208987G>A	ENST00000376893.3	-	7	595	c.502C>T	c.(502-504)Cca>Tca	p.P168S	SSX3_ENST00000298396.2_Intron|SSX3_ENST00000376895.1_Intron			Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						tattgcagtggtctggaaccg	0.408000													9	53					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56052950	56052950	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr3:56052950G>A	ENST00000288221.6	-	8	2006	c.1751C>T	c.(1750-1752)gCg>gTg	p.A584V		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	584						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CTCTAGCGTCGCCAGTGCAGT	0.468000													12	66					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215391	140215391	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr5:140215391T>C	ENST00000525929.1	+	1	1423	c.1423T>C	c.(1423-1425)Ttc>Ctc	p.F475L	PCDHA7_ENST00000378125.3_Missense_Mutation_p.F475L|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCCACATCTTCACTGTGTC	0.677000													49	60					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9020125	9020125	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:9020125T>C	ENST00000397910.4	-	21	37573	c.37370A>G	c.(37369-37371)gAt>gGt	p.D12457G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12459	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCAGATGGCATCCACTCCAGT	0.522000													26	149					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10317744	10317744	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:10317744A>G	ENST00000403437.2	-	10	957	c.863T>C	c.(862-864)aTt>aCt	p.I288T	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	288	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTGATAAAAAATATGGTAGCT	0.313000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				7	29					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994542	140994542	+	Missense_Mutation	SNP	T	T	C	rs148062938		TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:140994542T>C	ENST00000285879.4	+	4	1638	c.1352T>C	c.(1351-1353)tTc>tCc	p.F451S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	451							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTCCTCTTTCTCCTACACT	0.458000										HNSCC(15;0.026)			34	269					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73812517	73812517	+	Silent	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:73812517T>A	ENST00000332687.6	-	4	851	c.633A>T	c.(631-633)gcA>gcT	p.A211A	RLIM_ENST00000349225.2_Silent_p.A211A	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	211					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCTGCTTCTTGCCCTCCTCT	0.488000													22	140					0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096987	107096987	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr3:107096987T>G	ENST00000261058.1	+	1	800	c.553T>G	c.(553-555)Tct>Gct	p.S185A		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	185										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CACTTTGGCCTCTACAGACAT	0.413000													32	91					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33568000	33568000	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:33568000C>T	ENST00000404816.2	+	25	4179	c.3826C>T	c.(3826-3828)Caa>Taa	p.Q1276*	LTBP1_ENST00000390003.4_Nonsense_Mutation_p.Q951*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.Q897*|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.Q950*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.Q897*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.Q1277*|LTBP1_ENST00000418533.2_Intron			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1276	EGF-like 13; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCAGGGCTTTCAAGCCCCACA	0.458000													7	46					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74511351	74511351	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr16:74511351C>A	ENST00000422840.2	-	12	1907	c.1908G>T	c.(1906-1908)caG>caT	p.Q636H	GLG1_ENST00000447066.2_Missense_Mutation_p.Q625H|GLG1_ENST00000205061.5_Missense_Mutation_p.Q636H	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	636						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GGCACTTATCCTGGAGGGCAG	0.488000													4	95					0.00909568	0.00918198	1	1	0
MYH11	4629	broad.mit.edu	37	16	15851723	15851723	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr16:15851723C>T	ENST00000452625.2	-	14	1644	c.1557G>A	c.(1555-1557)ggG>ggA	p.G519G	MYH11_ENST00000300036.5_Silent_p.G512G|MYH11_ENST00000576790.2_Silent_p.G512G|MYH11_ENST00000396324.3_Silent_p.G519G	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	512	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GTAGGTCCAGCCCAAAGTCGA	0.612000			T	CBFB	AML								33	38					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17083938	17083938	+	Silent	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:17083938C>G	ENST00000341712.4	+	23	3063	c.3063C>G	c.(3061-3063)gtC>gtG	p.V1021V	RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395804.3_Silent_p.V1021V|MPRIP_ENST00000395811.5_Intron|MPRIP_ENST00000444976.1_Intron			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	1021						cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TTGAGCAGGTCTCGTGGGATA	0.617000													98	259					0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103611846	103611846	+	Silent	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:103611846G>A	ENST00000226578.4	-	6	855	c.756C>T	c.(754-756)atC>atT	p.I252I	MANBA_ENST00000505239.1_Silent_p.I195I	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	252					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	p.I252I(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GGATGGCTACGATCACTTGAC	0.393000													19	138					0	0	1	0	0
DUSP21	63904	broad.mit.edu	37	X	44703920	44703920	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:44703920A>T	ENST00000339042.4	+	1	672	c.542A>T	c.(541-543)gAg>gTg	p.E181V		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	181						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						GACATCTATGAGAAGGACCTA	0.463000													25	57					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72141297	72141297	+	Silent	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr15:72141297C>G	ENST00000356056.5	-	39	7198	c.6726G>C	c.(6724-6726)ctG>ctC	p.L2242L	MYO9A_ENST00000424560.1_Silent_p.L2313L|MYO9A_ENST00000564571.1_Silent_p.L2242L|MYO9A_ENST00000444904.1_Silent_p.L2223L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2242	Rho-GAP.|Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCACAACAATCAGTTCCACAC	0.373000													4	30					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1271250	1271250	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:1271250G>C	ENST00000308624.5	+	14	1320	c.1191G>C	c.(1189-1191)aaG>aaC	p.K397N	SNTG2_ENST00000407292.1_Missense_Mutation_p.K270N	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	397	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCCATGGGAAGAGCCATGTTT	0.527000													7	30					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2924870	2924870	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr3:2924870C>A	ENST00000397461.1	+	8	1078	c.694C>A	c.(694-696)Cca>Aca	p.P232T	CNTN4_ENST00000427331.1_Missense_Mutation_p.P232T|CNTN4_ENST00000418658.1_Missense_Mutation_p.P232T|CNTN4_ENST00000358480.3_Missense_Mutation_p.P13T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	232	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGTGCAGTTCCCAGAAACAGT	0.408000													6	35					8.12818e-05	8.38022e-05	1	1	0
GPR98	84059	broad.mit.edu	37	5	90136742	90136742	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr5:90136742G>A	ENST00000405460.2	+	78	17055	c.16959G>A	c.(16957-16959)atG>atA	p.M5653I	GPR98_ENST00000425867.2_Missense_Mutation_p.M1314I	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5653					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCATCAGCATGAAAGTGGCCA	0.398000													18	33					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40843439	40843439	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:40843439C>G	ENST00000264638.4	+	15	2471	c.2254C>G	c.(2254-2256)Ctg>Gtg	p.L752V	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	752	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGTGGACCATCTGCCTGTCAC	0.597000													19	62					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10725220	10725220	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:10725220T>C	ENST00000377022.3	-	5	742	c.425A>G	c.(424-426)gAc>gGc	p.D142G	CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Missense_Mutation_p.D142G	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGCACCGCCGTCCTTGGAGGG	0.682000													7	25					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49750981	49750981	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr3:49750981C>G	ENST00000327697.6	+	28	2854	c.2710C>G	c.(2710-2712)Ctc>Gtc	p.L904V	RNF123_ENST00000433785.1_Missense_Mutation_p.L16V	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	904						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGCTGCCATTCTCGCCAAACA	0.637000													6	15					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185969213	185969213	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:185969213G>A	ENST00000271588.4	+	26	4140	c.3911G>A	c.(3910-3912)gGt>gAt	p.G1304D	HMCN1_ENST00000367492.2_Missense_Mutation_p.G1304D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1304	Ig-like C2-type 10.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTACACAATGGTAGAGAGTTG	0.363000													24	33					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139729080	139729080	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr8:139729080T>C	ENST00000303045.6	-	28	2834	c.2388A>G	c.(2386-2388)cgA>cgG	p.R796R	COL22A1_ENST00000435777.1_Silent_p.R796R|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	796	Collagen-like 6.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTCTCCAGGTCGGCCTGCCA	0.388000										HNSCC(7;0.00092)			18	39					0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468073	35468073	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr21:35468073G>A	ENST00000608209.1	+	2	1088	c.576G>A	c.(574-576)atG>atA	p.M192I	SLC5A3_ENST00000381151.3_Missense_Mutation_p.M192I|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CTCTGCTCATGATCATTGGGG	0.478000													48	56					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080946	152080946	+	Missense_Mutation	SNP	A	A	T	rs71585886		TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:152080946A>T	ENST00000368804.1	-	2	4746	c.4747T>A	c.(4747-4749)Tta>Ata	p.L1583I		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1583	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTCCTCTAAACGGAATTTT	0.582000													85	78					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135203782	135203782	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr9:135203782T>A	ENST00000372169.2	-	10	3385	c.3203A>T	c.(3202-3204)gAg>gTg	p.E1068V	SETX_ENST00000224140.5_Missense_Mutation_p.E1068V|SETX_ENST00000393220.1_Missense_Mutation_p.E1068V			Q7Z333	SETX_HUMAN	senataxin	1068					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAAAAGAGTCTCTGTCTTTTC	0.373000													27	116					0	0	1	0	0
GOLGA8A	23015	broad.mit.edu	37	15	34673687	34673687	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr15:34673687C>T	ENST00000543376.1	-	23	4062	c.1308G>A	c.(1306-1308)caG>caA	p.Q436Q	GOLGA8A_ENST00000432566.2_Silent_p.Q609Q|GOLGA8A_ENST00000360553.3_Silent_p.Q579Q|GOLGA8A_ENST00000359187.4_Silent_p.Q579Q			A7E2F4	GOG8A_HUMAN	golgin A8 family, member A	607						Golgi cisterna membrane							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CTGGGTGCTCCTGGTGGTCCT	0.582000													9	100					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108355512	108355512	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr3:108355512T>C	ENST00000361582.3	+	11	1198	c.968T>C	c.(967-969)gTa>gCa	p.V323A	DZIP3_ENST00000463306.1_Missense_Mutation_p.V323A	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	323					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GGTGACATGGTAAGGATGCTG	0.299000													33	176					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169267850	169267850	+	Translation_Start_Site	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr5:169267850T>A	ENST00000540750.1	+	0	1433				DOCK2_ENST00000520908.1_Silent_p.I423I|DOCK2_ENST00000256935.8_Silent_p.I931I|DOCK2_ENST00000523351.1_3'UTR			Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2						actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGATCACATTCTGATTGTGA	0.463000													8	25					0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48286147	48286147	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:48286147C>T	ENST00000320048.1	+	1	735	c.735C>T	c.(733-735)gtC>gtT	p.V245V		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TCACAGTTGTCGACCTGTTCT	0.512000													39	100					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70488913	70488913	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:70488913G>T	ENST00000310961.5	+	18	1969	c.1551G>T	c.(1549-1551)caG>caT	p.Q517H	LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.Q512H			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	512						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGTGTGATCAGCAGATCCAAG	0.582000													29	55					5.45727e-16	5.80653e-16	1	1	0
MSTO1	55154	broad.mit.edu	37	1	155717479	155717479	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:155717479C>T	ENST00000452804.2	+	7	747	c.686C>T	c.(685-687)gCg>gTg	p.A229V	MSTO1_ENST00000538143.1_Intron			Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	225					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					CAGGTAGTGGCGTGGCAATGT	0.552000													10	60					0	0	1	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													3	13					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79841395	79841395	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr9:79841395G>A	ENST00000360280.3	+	15	1498	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	VPS13A_ENST00000376634.4_Missense_Mutation_p.G413E|VPS13A_ENST00000357409.5_Missense_Mutation_p.G413E|VPS13A_ENST00000376636.3_Missense_Mutation_p.G413E	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	413					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAGAAAGCTGGATACAAAATT	0.308000													12	47					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130884256	130884256	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr12:130884256G>C	ENST00000261655.4	-	18	3263	c.3100C>G	c.(3100-3102)Caa>Gaa	p.Q1034E		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	1034						cell junction|synapse		p.Q1034E(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGCGTATCTTGAGAGTAGTGG	0.448000													23	84					0	0	1	0	0
UBE2M	9040	broad.mit.edu	37	19	59069642	59069642	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:59069642T>C	ENST00000253023.3	-	1	685	c.107A>G	c.(106-108)aAg>aGg	p.K36R		NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	36	Interaction with UBA3.				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CCCCCTACCCTTCTGGATCCG	0.652000													5	30					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824261	54824261	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr20:54824261A>G	ENST00000243911.2	+	1	474	c.362A>G	c.(361-363)gAc>gGc	p.D121G		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	158					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			AACATCTTCGACTCCATGATC	0.562000													17	72					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70498651	70498651	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr8:70498651G>C	ENST00000260128.4	+	7	1189	c.472G>C	c.(472-474)Gaa>Caa	p.E158Q	SULF1_ENST00000458141.2_Missense_Mutation_p.E158Q|SULF1_ENST00000419716.3_Missense_Mutation_p.E158Q|SULF1_ENST00000402687.4_Missense_Mutation_p.E158Q	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	158					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TGGGTGGCGAGAATGGCTTGG	0.363000													45	133					0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053169	11053169	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:11053169A>C	ENST00000295082.1	+	1	1107	c.617A>C	c.(616-618)gAg>gCg	p.E206A		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	206						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		ACCATCCCCGAGCTGCAGGTG	0.672000													13	33					0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40635067	40635067	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:40635067C>T	ENST00000343619.4	+	9	851	c.728C>T	c.(727-729)tCa>tTa	p.S243L	ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.S200L|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.S243L|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.S243L|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.S200L|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.S250L	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	243					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.S243L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTCCGAGCCTCACTCTATCCC	0.418000													18	49					0	0	1	0	0
EIF5A	1984	broad.mit.edu	37	17	7212983	7212983	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:7212983G>A	ENST00000336458.8	+	2	430	c.29G>A	c.(28-30)gGa>gAa	p.G10E	EIF5A_ENST00000572815.1_Missense_Mutation_p.G10E|EIF5A_ENST00000336452.7_Missense_Mutation_p.G40E|EIF5A_ENST00000571955.1_Missense_Mutation_p.G10E|EIF5A_ENST00000576930.1_Missense_Mutation_p.G10E|EIF5A_ENST00000573542.1_Missense_Mutation_p.G10E|EIF5A_ENST00000419711.2_Missense_Mutation_p.G10E|EIF5A_ENST00000416016.2_Missense_Mutation_p.G10E	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	10					induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						TTCGAGACAGGAGATGCAGGG	0.502000													55	214					0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8736297	8736297	+	Silent	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:8736297G>C	ENST00000311434.9	-	9	950	c.711C>G	c.(709-711)gcC>gcG	p.A237A	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	237					platelet activation	cytosol											TGGCCTCGCTGGCCATCTGCT	0.697000													9	50					0	0	1	0	0
XRN2	22803	broad.mit.edu	37	20	21362667	21362667	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr20:21362667C>T	ENST00000377191.3	+	28	2715	c.2620C>T	c.(2620-2622)Ccc>Tcc	p.P874S	XRN2_ENST00000430571.2_Missense_Mutation_p.P798S|XRN2_ENST00000539513.1_Missense_Mutation_p.P820S	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	874				P -> L (in Ref. 2; AAR24369).	cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						AGGTCCTCCTCCCCTTTTCCA	0.378000													8	37					0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110466361	110466361	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:110466361T>C	ENST00000329608.6	+	6	1509	c.1118T>C	c.(1117-1119)gTg>gCg	p.V373A	CSF1_ENST00000369801.1_Intron|CSF1_ENST00000369802.3_Missense_Mutation_p.V373A|CSF1_ENST00000344188.5_Intron|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	373					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGGGCCCCGTGAGGCCCACT	0.627000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	67					0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687368	158687368	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:158687368C>T	ENST00000368146.1	-	1	585	c.586G>A	c.(586-588)Gac>Aac	p.D196N	OR6K3_ENST00000368145.1_Missense_Mutation_p.D180N			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GGGACCAAGTCACAGAAGATC	0.478000													38	105					0	0	1	0	0
NEK4	6787	broad.mit.edu	37	3	52778313	52778313	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr3:52778313T>C	ENST00000233027.5	-	11	2038	c.1836A>G	c.(1834-1836)ccA>ccG	p.P612P	NEK4_ENST00000383721.4_Silent_p.P566P|NEK4_ENST00000535191.1_Silent_p.P523P	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	612					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TGGCTGATAATGGTCGATCCT	0.388000													64	159					0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450035	158450035	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:158450035T>C	ENST00000368152.1	+	1	368	c.368T>C	c.(367-369)tTc>tCc	p.F123S	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CAAATGTTCTTCTTCCTTGGT	0.453000													71	247					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19752452	19752452	+	Silent	SNP	G	G	A	rs114178008		TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr13:19752452G>A	ENST00000400113.3	-	3	413	c.309C>T	c.(307-309)taC>taT	p.Y103Y		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	103					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.Y103*(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGCCTCTGGCGTAATTATTGG	0.527000													24	124					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140135	56140135	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr20:56140135G>C	ENST00000319441.4	+	9	1522	c.1358G>C	c.(1357-1359)gGa>gCa	p.G453A	PCK1_ENST00000535860.1_3'UTR|PCK1_ENST00000543666.1_Missense_Mutation_p.G136A	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	453					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TGGCAACATGGAGTCTTTGTG	0.463000													36	107					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132498204	132498204	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr12:132498204C>T	ENST00000333577.4	+	19	3998	c.3889C>T	c.(3889-3891)Cac>Tac	p.H1297Y	EP400_ENST00000330386.6_Missense_Mutation_p.H1261Y|EP400_ENST00000389562.2_Missense_Mutation_p.H1260Y|EP400_ENST00000332482.4_Missense_Mutation_p.H1224Y|EP400_ENST00000389561.2_Missense_Mutation_p.H1261Y			Q96L91	EP400_HUMAN	E1A binding protein p400	1297	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CATAAGGTTACACAGGGTAGG	0.463000													39	37					0	0	1	0	0
DGCR5	26220	broad.mit.edu	37	22	18975341	18975341	+	RNA	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr22:18975341G>T	ENST00000438934.1	+	0	217				DGCR5_ENST00000440005.2_RNA|DGCR5_ENST00000421572.1_RNA																							CGCCATTCATGAAGAATTCCC	0.488000													7	14					0.0293803	0.0294912	1	1	0
KLHL14	57565	broad.mit.edu	37	18	30275515	30275515	+	Splice_Site	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr18:30275515A>G	ENST00000359358.4	-	4	1508	c.1070T>C	c.(1069-1071)aTt>aCt	p.I357T		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	357						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GTATGGCATAACTGAAATTAA	0.403000													13	33					0	0	1	0	0
TCEA2	6919	broad.mit.edu	37	20	62701696	62701696	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr20:62701696A>T	ENST00000361317.2	+	8	962	c.520A>T	c.(520-522)Aac>Tac	p.N174Y	TCEA2_ENST00000343484.5_Missense_Mutation_p.N201Y|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000395053.3_3'UTR	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	201	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GGATGCCAAGAACCCTGACCT	0.557000													32	78					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99514904	99514904	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr3:99514904C>A	ENST00000261037.3	+	5	2539	c.2159C>A	c.(2158-2160)tCa>tAa	p.S720*	COL8A1_ENST00000273342.4_Nonsense_Mutation_p.S720*	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	720	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CAGATGCCCTCAGAACAGGCT	0.498000													7	48					0.00307968	0.00312074	1	1	0
XCR1	2829	broad.mit.edu	37	3	46062510	46062510	+	Silent	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr3:46062510C>G	ENST00000309285.3	-	2	1286	c.930G>C	c.(928-930)ctG>ctC	p.L310L	XCR1_ENST00000542109.1_Silent_p.L310L	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	310					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TGGGTGCCTGCAGCCGGCAGA	0.632000													6	15					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179465824	179465824	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:179465824G>A	ENST00000589042.1	-	288	56031	c.55807C>T	c.(55807-55809)Ccg>Tcg	p.P18603S	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P16962S|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P9730S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P9663S|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P16035S|TTN_ENST00000460472.2_Missense_Mutation_p.P9538S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16962	Fibronectin type-III 34.						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)			TCATTCTTCGGGGGTTTCCAT	0.448000													30	49					0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	397662	397662	+	Splice_Site	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:397662G>A	ENST00000331563.2	+	4	1144	c.1068G>A	c.(1066-1068)caG>caA	p.Q356Q		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	356					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAAGAAGCAGGTGACCACCC	0.632000													11	51					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176318097	176318097	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr5:176318097C>G	ENST00000292432.5	-	4	446	c.355G>C	c.(355-357)Gag>Cag	p.E119Q		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	119	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCTGGGCTCCACCCTATGC	0.622000													22	110					0	0	1	0	0
FAR2P3	100288897	broad.mit.edu	37	2	131459893	131459893	+	RNA	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:131459893C>G	ENST00000425151.1	+	0	420																											AGGCCATATGCTGATTTCACC	0.468000													5	4					0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210329238	210329238	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:210329238C>A	ENST00000537238.1	+	8	1614	c.1223C>A	c.(1222-1224)gCa>gAa	p.A408E	SYT14_ENST00000367015.1_Missense_Mutation_p.A408E|SYT14_ENST00000367019.1_Missense_Mutation_p.A446E|SYT14_ENST00000399639.2_Missense_Mutation_p.A446E|SYT14_ENST00000534859.1_Missense_Mutation_p.A446E|SYT14_ENST00000422431.1_Missense_Mutation_p.A491E|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000472886.1_Missense_Mutation_p.A446E	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	446						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAAAATTTGGCAGCAAACAGA	0.378000													20	55					7.41877e-09	7.78459e-09	1	1	0
ZNF69	7620	broad.mit.edu	37	19	12015571	12015571	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:12015571C>T	ENST00000429654.2	+	4	499	c.359C>T	c.(358-360)tCt>tTt	p.S120F	ZNF69_ENST00000340180.5_Missense_Mutation_p.S106F			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	120						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		AAGAAAGCTTCTCCTGAAATA	0.398000													34	212					0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107360749	107360749	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr9:107360749A>T	ENST00000374779.2	-	1	1039	c.946T>A	c.(946-948)Ttt>Att	p.F316I		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TACTTGTTAAAATTTTTTCTT	0.343000													4	34					0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125580731	125580731	+	Silent	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr8:125580731G>C	ENST00000518547.1	-	7	980	c.507C>G	c.(505-507)gtC>gtG	p.V169V	MTSS1_ENST00000524090.1_Silent_p.V59V|MTSS1_ENST00000378017.3_Silent_p.V169V|MTSS1_ENST00000431961.2_5'UTR|MTSS1_ENST00000325064.5_Silent_p.V173V|NDUFB9_ENST00000522532.1_3'UTR|MTSS1_ENST00000354184.4_5'UTR	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	169	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACTTATCATTGACATCTTGGA	0.468000													18	62					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22381071	22381071	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:22381071G>A	ENST00000263160.3	+	4	1008	c.571G>A	c.(571-573)Gag>Aag	p.E191K		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	191					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGGACTTGTTGAGGTATGTAA	0.373000													5	43					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14270344	14270344	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:14270344C>T	ENST00000340736.6	-	11	2204	c.1907G>A	c.(1906-1908)tGg>tAg	p.W636*	CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Nonsense_Mutation_p.W631*|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	636					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CATGTCCTTCCAGGACTCCAG	0.632000													7	29					0	0	1	0	0
NUCB2	4925	broad.mit.edu	37	11	17336988	17336988	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:17336988A>G	ENST00000529010.1	+	11	1187	c.968A>G	c.(967-969)gAa>gGa	p.E323G	NUCB2_ENST00000323688.6_Missense_Mutation_p.E323G|NUCB2_ENST00000458064.2_Intron	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	323	Binds to necdin (By similarity).|EF-hand 2.					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AAAGCCACAGAAAAAAAAGAA	0.328000													19	41					0	0	1	0	0
BRI3BP	140707	broad.mit.edu	37	12	125509956	125509956	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr12:125509956G>A	ENST00000341446.8	+	3	827	c.736G>A	c.(736-738)Gac>Aac	p.D246N		NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN	BRI3 binding protein	246						integral to membrane|mitochondrial outer membrane				large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		CGAGAGCCTGGACCGCTCCAA	0.597000													10	6					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48142638	48142638	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:48142638G>A	ENST00000418331.2	+	4	788	c.436G>A	c.(436-438)Gct>Act	p.A146T	PTPRJ_ENST00000526550.1_3'UTR|PTPRJ_ENST00000440289.2_Missense_Mutation_p.A146T	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	146	Fibronectin type-III 1.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGACACAGCTGCTTCTGAGTA	0.388000													14	40					0	0	1	0	0
SEC63	11231	broad.mit.edu	37	6	108227779	108227779	+	Silent	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr6:108227779G>T	ENST00000369002.4	-	10	1013	c.834C>A	c.(832-834)atC>atA	p.I278I		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	278	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CAATTTCTCTGATTAGCTAGA	0.333000													41	63					1.04594e-18	1.12412e-18	1	1	0
EEF1A2	1917	broad.mit.edu	37	20	62120353	62120353	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr20:62120353C>T	ENST00000217182.3	-	7	1347	c.1182G>A	c.(1180-1182)ctG>ctA	p.L394L	EEF1A2_ENST00000298049.7_Silent_p.L394L	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	394						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CTCCAGACTTCAGGGACTTGG	0.622000													24	67					0	0	1	0	0
VRK3	51231	broad.mit.edu	37	19	50482470	50482470	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:50482470T>C	ENST00000599538.1	-	14	1970	c.1306A>G	c.(1306-1308)Atg>Gtg	p.M436V	VRK3_ENST00000316763.3_Missense_Mutation_p.M436V|VRK3_ENST00000594948.1_Missense_Mutation_p.M436V|VRK3_ENST00000377011.2_Missense_Mutation_p.M386V|VRK3_ENST00000443401.2_Missense_Mutation_p.M205V|VRK3_ENST00000601341.1_Missense_Mutation_p.M386V			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	436	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GTGAGGGCCATCACCACCTTC	0.587000													28	55					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71571257	71571257	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr7:71571257A>G	ENST00000395275.2	-	4	655	c.267T>C	c.(265-267)gtT>gtC	p.V89V	CALN1_ENST00000405452.2_Silent_p.V47V|CALN1_ENST00000395276.2_Silent_p.V47V|CALN1_ENST00000412588.1_Silent_p.V89V|CALN1_ENST00000329008.5_Silent_p.V47V|CALN1_ENST00000431984.1_Silent_p.V47V	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	47	EF-hand 2.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CCCGGTCCAGAACCCGAAAGG	0.532000													15	51					0	0	1	0	0
CRYL1	51084	broad.mit.edu	37	13	21063599	21063599	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr13:21063599C>T	ENST00000382812.1	-	4	348	c.120G>A	c.(118-120)ctG>ctA	p.L40L	CRYL1_ENST00000298248.7_Silent_p.L62L			Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	62					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		GGGAGCCTTTCAGAGAACCTG	0.478000											OREG0022283	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	52					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64178818	64178818	+	Silent	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr18:64178818G>A	ENST00000262150.2	-	10	1855	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	521	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GATTATCTATGATTGTAAAAC	0.308000													12	29					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13214465	13214465	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr10:13214465C>T	ENST00000378694.1	+	3	514	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	MCM10_ENST00000378714.3_Silent_p.L147L|MCM10_ENST00000484800.2_Silent_p.L147L			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	147					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CCCAGCCCGTCTGCAAAAATC	0.393000													52	111					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49422947	49422947	+	Silent	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr12:49422947C>A	ENST00000301067.7	-	44	14147	c.14148G>T	c.(14146-14148)ggG>ggT	p.G4716G		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGGCCTCCTCCCCCAAGATGC	0.597000													14	30					1.3612e-06	1.41162e-06	1	1	0
LZTR1	8216	broad.mit.edu	37	22	21348902	21348902	+	Silent	SNP	C	C	T	rs148399643		TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr22:21348902C>T	ENST00000215739.8	+	15	2030	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F	LZTR1_ENST00000389355.3_Silent_p.F538F|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	557					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CACTGAGCTTCCAGTTGTGCC	0.642000													165	70					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1921092	1921092	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:1921092C>T	ENST00000399161.2	-	11	2250	c.1503G>A	c.(1501-1503)aaG>aaA	p.K501K	MYT1L_ENST00000428368.2_Silent_p.K499K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	501					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGCTCTCTTTCTTTTCTGTTC	0.473000													51	149					0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135523579	135523579	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr9:135523579C>T	ENST00000372159.3	-	11	1430	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	DDX31_ENST00000372153.1_Missense_Mutation_p.E427K|DDX31_ENST00000438527.3_Missense_Mutation_p.E298K|DDX31_ENST00000310532.2_Missense_Mutation_p.E427K	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	427	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		AACTCACCTTCTGTGAGTGTC	0.413000													5	33					0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188584016	188584016	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr3:188584016C>T	ENST00000312675.4	+	9	1685	c.1439C>T	c.(1438-1440)tCc>tTc	p.S480F	LPP_ENST00000543006.1_Missense_Mutation_p.S480F	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	480	LIM zinc-binding 2.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		AATGTGTGTTCCAAGCCCATC	0.552000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								12	84					0	0	1	0	0
NAA10	8260	broad.mit.edu	37	X	153199891	153199891	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:153199891A>T	ENST00000464845.1	-	2	377	c.59T>A	c.(58-60)cTc>cAc	p.L20H	NAA10_ENST00000393712.3_Missense_Mutation_p.L20H|NAA10_ENST00000370009.1_Missense_Mutation_p.L20H|NAA10_ENST00000393710.3_5'UTR|NAA10_ENST00000370015.4_Missense_Mutation_p.L20H	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	20	Interaction with NAA15.|N-acetyltransferase.				DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						GGGCAGGCAGAGGAGGTTGCA	0.582000													3	19					0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150300915	150300915	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:150300915C>T	ENST00000324862.6	+	4	578	c.413C>T	c.(412-414)aCt>aTt	p.T138I	PRPF3_ENST00000414970.2_Intron|PRPF3_ENST00000543398.1_Missense_Mutation_p.T3I|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	138					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GGCATGCTGACTAAGCTCCAG	0.468000													6	181					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3335255	3335255	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:3335255A>T	ENST00000378398.3	+	13	2968	c.2886A>T	c.(2884-2886)agA>agT	p.R962S	PRDM16_ENST00000378391.2_Missense_Mutation_p.R962S|PRDM16_ENST00000442529.2_Missense_Mutation_p.R961S|PRDM16_ENST00000511072.1_Missense_Mutation_p.R963S|PRDM16_ENST00000514189.1_Missense_Mutation_p.R962S|PRDM16_ENST00000441472.2_Missense_Mutation_p.R961S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Missense_Mutation_p.R962S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	962	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TCTTCCCCAGATCAGCCAATC	0.627000			T	EVI1	"""MDS, AML"""								15	45					0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64722511	64722511	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:64722511G>C	ENST00000338957.4	+	5	2000	c.1933G>C	c.(1933-1935)Gag>Cag	p.E645Q	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.E634Q	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	634							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTATGGCCCAGAGGATTCTAA	0.537000													6	22					0	0	1	0	0
IFT74	80173	broad.mit.edu	37	9	27009126	27009126	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr9:27009126G>C	ENST00000443698.1	+	9	867	c.696G>C	c.(694-696)gaG>gaC	p.E232D	IFT74_ENST00000380062.5_Missense_Mutation_p.E232D|IFT74_ENST00000429045.2_Missense_Mutation_p.E232D|IFT74_ENST00000433700.1_Missense_Mutation_p.E232D	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	232						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		AGTACCTAGAGATGAAAACCA	0.328000													15	36					0	0	1	0	0
EPDR1	54749	broad.mit.edu	37	7	37960321	37960321	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr7:37960321C>G	ENST00000559325.1	+	1	159	c.140C>G	c.(139-141)gCg>gGg	p.A47G	EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_5'UTR|EPDR1_ENST00000199448.4_5'UTR			Q9UM22	EPDR1_HUMAN	ependymin related 1	0					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGCTCCCGCGCGATTCACTGG	0.642000													14	36					0	0	1	0	0
UBASH3B	84959	broad.mit.edu	37	11	122669667	122669667	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:122669667A>T	ENST00000284273.5	+	10	1750	c.1375A>T	c.(1375-1377)Agc>Tgc	p.S459C		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	459	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CTTATTAGAGAGCAATACCAT	0.458000													8	58					0	0	1	0	0
PDS5B	23047	broad.mit.edu	37	13	33327591	33327591	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr13:33327591A>G	ENST00000315596.10	+	25	3044	c.2858A>G	c.(2857-2859)gAg>gGg	p.E953G		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	953					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CCTGTAAAGGAGAGAAGAGCT	0.428000													18	83					0	0	1	0	0
RASGEF1A	221002	broad.mit.edu	37	10	43695206	43695206	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr10:43695206T>C	ENST00000395809.1	-	7	3273	c.767A>G	c.(766-768)gAc>gGc	p.D256G	RASGEF1A_ENST00000374459.1_Missense_Mutation_p.D264G|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.D256G			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	256	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CTTGGTCAGGTCCCCTCGGCA	0.612000													8	19					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6690929	6690929	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr12:6690929C>G	ENST00000309577.6	-	30	4814	c.4651G>C	c.(4651-4653)Gag>Cag	p.E1551Q	CHD4_ENST00000544484.1_Missense_Mutation_p.E1548Q|CHD4_ENST00000544040.1_Missense_Mutation_p.E1516Q|CHD4_ENST00000357008.2_Missense_Mutation_p.E1523Q|RP5-940J5.6_ENST00000501075.2_RNA			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1523					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCCTCCACCTCAGCCAGTTCA	0.547000													59	113					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700543	136700543	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr7:136700543T>A	ENST00000445907.2	+	3	1459	c.931T>A	c.(931-933)Tcc>Acc	p.S311T	CHRM2_ENST00000453373.1_Missense_Mutation_p.S311T|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.S311T|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.S311T|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.S311T|CHRM2_ENST00000401861.1_Missense_Mutation_p.S311T|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	311					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AGTTTCCACTTCCCTGGGCCA	0.458000													41	91					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119216952	119216952	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:119216952C>A	ENST00000296498.3	-	10	2179	c.1897G>T	c.(1897-1899)Ggt>Tgt	p.G633C	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	633	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TTTTTCCCACCAATGATCCGC	0.363000													10	92					1.5842e-08	1.65254e-08	1	1	0
GABRG2	2566	broad.mit.edu	37	5	161580153	161580153	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr5:161580153A>G	ENST00000356592.3	+	10	1667	c.1207A>G	c.(1207-1209)Aca>Gca	p.T403A	GABRG2_ENST00000414552.2_Missense_Mutation_p.T443A|GABRG2_ENST00000393933.4_Missense_Mutation_p.T300A|GABRG2_ENST00000361925.4_Missense_Mutation_p.T395A	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	395					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GAATAATGCTACACACCTTCA	0.483000													23	79					0	0	1	0	0
ACTR10	55860	broad.mit.edu	37	14	58701256	58701256	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr14:58701256C>T	ENST00000254286.4	+	13	1321	c.1241C>T	c.(1240-1242)tCc>tTc	p.S414F		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	414						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						AGAGCATTTTCCACTGAGAAA	0.353000													24	48					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308574	248308574	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:248308574A>G	ENST00000366476.1	+	1	125	c.125A>G	c.(124-126)aAc>aGc	p.N42S		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N42S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			TTCATGGGAAACTCTGTCATG	0.522000													95	314					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36198255	36198255	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr6:36198255G>A	ENST00000357641.6	+	13	3740	c.3487G>A	c.(3487-3489)Gac>Aac	p.D1163N	BRPF3_ENST00000543502.1_Missense_Mutation_p.D893N|BRPF3_ENST00000339717.7_Missense_Mutation_p.D893N|BRPF3_ENST00000534400.1_3'UTR|BRPF3_ENST00000534694.1_Missense_Mutation_p.D829N|BRPF3_ENST00000443324.2_Missense_Mutation_p.D829N	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1163					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						AGACACCGTGGACAAGCTCAA	0.592000													19	34					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26706761	26706761	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr22:26706761A>G	ENST00000529632.2	+	7	1836	c.1640A>G	c.(1639-1641)gAc>gGc	p.D547G	SEZ6L_ENST00000402979.1_Missense_Mutation_p.D320G|SEZ6L_ENST00000403121.1_Missense_Mutation_p.D320G|SEZ6L_ENST00000404234.3_Missense_Mutation_p.D547G|SEZ6L_ENST00000248933.6_Missense_Mutation_p.D547G|SEZ6L_ENST00000343706.4_Missense_Mutation_p.D547G|SEZ6L_ENST00000360929.3_Missense_Mutation_p.D547G	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	547	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TTCACGTCCGACCAGGCCCGG	0.597000													29	80					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43777471	43777471	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:43777471A>G	ENST00000372476.3	+	10	1542	c.1463A>G	c.(1462-1464)gAc>gGc	p.D488G	TIE1_ENST00000433781.2_Missense_Mutation_p.D133G	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	488	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGCCCCAGGACAGTACCATG	0.602000													34	80					0	0	1	0	0
ECD	11319	broad.mit.edu	37	10	74916341	74916341	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr10:74916341T>C	ENST00000372979.4	-	4	602	c.396A>G	c.(394-396)gaA>gaG	p.E132E	ECD_ENST00000430082.2_Silent_p.E132E|ECD_ENST00000454759.2_Silent_p.E132E	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	132					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TGGTGCTATTTTCAGGATCCA	0.368000													46	73					0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8200577	8200577	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr12:8200577A>C	ENST00000162391.3	+	7	2062	c.917A>C	c.(916-918)cAg>cCg	p.Q306P	FOXJ2_ENST00000428177.2_Missense_Mutation_p.Q306P	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	306	Poly-Gln.				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		cagcagcagcagcCGCCACAG	0.642000													4	61					0	0	1	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125232178	125232178	+	RNA	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr6:125232178A>G	ENST00000439075.1	-	0	2567					NR_026876.1																						AGGGCGGTCTAAAAGTAGAAA	0.363000													13	21					0	0	1	0	0
RHOXF2B	727940	broad.mit.edu	37	X	119210891	119210891	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:119210891C>T	ENST00000371402.2	-	2	631	c.442G>A	c.(442-444)Gag>Aag	p.E148K	RP4-755D9.1_ENST00000553843.1_RNA	NM_001099685.1	NP_001093155.1	P0C7M4	RHF2B_HUMAN	Rhox homeobox family, member 2B	148						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|skin(3)|upper_aerodigestive_tract(1)	7						CACTCCAGCTCCTGCAGCTGC	0.657000													7	40					0	0	1	0	0
UCP2	7351	broad.mit.edu	37	11	73688958	73688958	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:73688958T>C	ENST00000310473.3	-	4	1152	c.310A>G	c.(310-312)Aaa>Gaa	p.K104E	UCP2_ENST00000536983.1_Missense_Mutation_p.K104E	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	104					proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					TAGAACTGTTTGACAGAATCA	0.547000													33	78					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78264488	78264488	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:78264488C>T	ENST00000582970.1	+	7	1375	c.1232C>T	c.(1231-1233)tCa>tTa	p.S411L	RNF213_ENST00000319921.4_Missense_Mutation_p.S411L|RNF213_ENST00000508628.2_Missense_Mutation_p.S460L|RNF213_ENST00000456466.1_Missense_Mutation_p.S411L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	411										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTTGGGGAGTCAAAATGGGAC	0.507000													27	59					0	0	1	0	0
GPI	2821	broad.mit.edu	37	19	34890215	34890215	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:34890215A>T	ENST00000415930.3	+	15	1576	c.1406A>T	c.(1405-1407)gAc>gTc	p.D469V	GPI_ENST00000356487.5_Missense_Mutation_p.D458V|GPI_ENST00000586425.1_Missense_Mutation_p.D458V	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	458					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					AGTCCAGAGGACCTTGAGAGG	0.597000													16	53					0	0	1	0	0
PQLC3	130814	broad.mit.edu	37	2	11304369	11304369	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:11304369G>C	ENST00000295083.3	+	4	511	c.336G>C	c.(334-336)tgG>tgC	p.W112C	PQLC3_ENST00000402361.1_Missense_Mutation_p.W112C|PQLC3_ENST00000476787.1_Intron|PQLC3_ENST00000441908.2_Missense_Mutation_p.W112C	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	112						integral to membrane				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		TGCAGAAGTGGATCATAGACC	0.438000													14	36					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12980042	12980042	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:12980042T>A	ENST00000251472.4	+	22	2975	c.2936T>A	c.(2935-2937)tTc>tAc	p.F979Y		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	979	PDZ.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AAGTATGGCTTCACACTGCGT	0.582000													7	67					0	0	1	0	0
CHURC1	91612	broad.mit.edu	37	14	65392727	65392727	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr14:65392727G>A	ENST00000607599.1	+	3	313	c.259G>A	c.(259-261)Gat>Aat	p.D87N	CHURC1_ENST00000549115.1_Splice_Site|FNTB_ENST00000447296.2_Splice_Site|CHURC1_ENST00000552002.2_Splice_Site|CHURC1-FNTB_ENST00000549987.1_Splice_Site|CHURC1_ENST00000548752.2_Intron|FNTB_ENST00000542227.1_Intron|CHURC1_ENST00000359118.2_Missense_Mutation_p.D60N	NM_001204063.1|NM_145165.3	NP_001190992.1|NP_660148.3			churchill domain containing 1											breast(1)|pancreas(1)	2				all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976)		TGTTTTAGCAGATTTGTGTAA	0.264000													63	136					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179442546	179442546	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:179442546A>G	ENST00000589042.1	-	323	68831	c.68607T>C	c.(68605-68607)ggT>ggC	p.G22869G	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Silent_p.G21228G|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.G13996G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.G13929G|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Silent_p.G20301G|TTN_ENST00000460472.2_Silent_p.G13804G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21228	Ig-like 117.						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)			ACTTATGACCACCGTCATATT	0.393000													20	49					0	0	1	0	0
CASP5	838	broad.mit.edu	37	11	104872867	104872867	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:104872867T>A	ENST00000393141.2	-	5	675	c.644A>T	c.(643-645)aAg>aTg	p.K215M	CASP5_ENST00000418434.1_Missense_Mutation_p.K60M|CASP5_ENST00000444749.2_Missense_Mutation_p.K144M|CASP5_ENST00000531367.1_Missense_Mutation_p.K60M|CASP5_ENST00000393139.2_Missense_Mutation_p.K132N|CASP5_ENST00000260315.3_Missense_Mutation_p.K202M|CASP5_ENST00000526056.1_Missense_Mutation_p.K215M	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	202					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GTGATCAAACTTTGTATTGCA	0.478000													27	81					0	0	1	0	0
ZNF286A	57335	broad.mit.edu	37	17	15619526	15619526	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:15619526A>T	ENST00000464847.2	+	5	1041	c.488A>T	c.(487-489)gAg>gTg	p.E163V	ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000583566.1_Missense_Mutation_p.E163V|ZNF286A_ENST00000472486.1_3'UTR|ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000421016.1_Missense_Mutation_p.E163V|ZNF286A_ENST00000413242.2_Missense_Mutation_p.E163V|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000593105.1_Missense_Mutation_p.E153V			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		AATTGGTTAGAGAATCAGCAA	0.388000													29	101					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212426722	212426722	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:212426722A>G	ENST00000342788.4	-	20	2703	c.2393T>C	c.(2392-2394)cTt>cCt	p.L798P	ERBB4_ENST00000402597.1_Missense_Mutation_p.L788P|ERBB4_ENST00000436443.1_Missense_Mutation_p.L798P	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	798	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)		ATGGGGCATAAGTTGAGTAAC	0.493000										TSP Lung(8;0.080)			23	85					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85445189	85445189	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:85445189G>A	ENST00000316356.4	-	7	1747	c.1183C>T	c.(1183-1185)Caa>Taa	p.Q395*	SYTL2_ENST00000527523.1_Nonsense_Mutation_p.Q346*|SYTL2_ENST00000524452.1_Nonsense_Mutation_p.Q394*|SYTL2_ENST00000389960.4_Nonsense_Mutation_p.Q394*|SYTL2_ENST00000528231.1_Nonsense_Mutation_p.Q394*			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	394					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GAGGTTGATTGATGAAAAAGC	0.398000													12	91					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57101356	57101356	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr16:57101356G>C	ENST00000436936.1	+	35	4605	c.4380G>C	c.(4378-4380)gaG>gaC	p.E1460D	NLRC5_ENST00000262510.6_Missense_Mutation_p.E1460D|NLRC5_ENST00000308149.7_Missense_Mutation_p.E1431D|NLRC5_ENST00000539144.1_Missense_Mutation_p.E1431D			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1460					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGCTGATGGAGACATGTGCCA	0.582000													21	50					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74319522	74319522	+	Silent	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr9:74319522G>C	ENST00000377044.4	-	18	3722	c.3183C>G	c.(3181-3183)gtC>gtG	p.V1061V	TMEM2_ENST00000396272.3_Silent_p.V54V|TMEM2_ENST00000377066.5_Silent_p.V998V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1061						integral to membrane		p.V1061V(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGTTGAAGTTGACGAGGTATA	0.433000													20	72					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10602124	10602124	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:10602124A>G	ENST00000547195.1	-	19	2600	c.2100T>C	c.(2098-2100)ggT>ggC	p.G700G	MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000558540.1_Silent_p.G476G|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000531107.1_Silent_p.G783G|MRVI1_ENST00000545852.1_Silent_p.G476G|MRVI1_ENST00000424001.1_Silent_p.G476G|MRVI1_ENST00000552103.1_Silent_p.G700G|MRVI1_ENST00000436272.1_Silent_p.G764G|MRVI1_ENST00000534266.2_Silent_p.G476G|MRVI1_ENST00000421747.1_Silent_p.G782G|MRVI1_ENST00000423302.2_Silent_p.G791G|MRVI1_ENST00000541483.1_Silent_p.G585G|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000527509.2_Silent_p.G700G	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	764					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCTTCTTTAGACCTTCTTGGA	0.498000													44	91					0	0	1	0	0
KRTAP17-1	83902	broad.mit.edu	37	17	39471729	39471729	+	Nonsense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:39471729A>T	ENST00000334202.3	-	1	218	c.174T>A	c.(172-174)tgT>tgA	p.C58*		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	58						intermediate filament				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			agccagatccacagcaagacg	0.706000													8	21					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66931403	66931403	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:66931403A>T	ENST00000374690.3	+	4	2569	c.2045A>T	c.(2044-2046)gAg>gTg	p.E682V	AR_ENST00000396044.3_Missense_Mutation_p.E682V|AR_ENST00000396043.2_Missense_Mutation_p.E150V	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	681	Interaction with MYST2.		P -> T (in PAIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GAAGCCATTGAGCCAGGTGTA	0.527000									Androgen Insensitivity Syndrome				4	31					0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53216952	53216952	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr12:53216952C>G	ENST00000330553.5	-	7	1249	c.1215G>C	c.(1213-1215)caG>caC	p.Q405H		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	405	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAAGCTTCTTCTGAGCATCCT	0.617000													8	71					0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27457430	27457430	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr8:27457430A>T	ENST00000316403.10	-	7	1436	c.1031T>A	c.(1030-1032)cTg>cAg	p.L344Q	CLU_ENST00000546343.1_Missense_Mutation_p.L355Q|CLU_ENST00000405140.3_Missense_Mutation_p.L344Q|CLU_ENST00000560366.1_Missense_Mutation_p.L396Q|CLU_ENST00000523500.1_Missense_Mutation_p.L344Q			P10909	CLUS_HUMAN	clusterin	344					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GGACTTTAGCAGCTCGTTGTA	0.572000													10	23					0	0	1	0	0
NEDD8	4738	broad.mit.edu	37	14	24686377	24686377	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr14:24686377G>A	ENST00000250495.5	-	4	388	c.202C>T	c.(202-204)Cac>Tac	p.H68Y	NEDD8-MDP1_ENST00000534348.1_Intron|NEDD8-MDP1_ENST00000604306.1_Intron	NM_006156.2	NP_006147.1			neural precursor cell expressed, developmentally down-regulated 8											breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		AACACCAGGTGAAGGACTGAA	0.448000													15	21					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43712518	43712518	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr15:43712518C>T	ENST00000263801.3	-	21	4903	c.4651G>A	c.(4651-4653)Gag>Aag	p.E1551K	TP53BP1_ENST00000450115.2_Missense_Mutation_p.E1556K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.E1556K|TP53BP1_ENST00000382039.3_Missense_Mutation_p.E1506K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1551					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTGAAATACTCATCCTCCGAG	0.438000								Other conserved DNA damage response genes					88	215					0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68882225	68882225	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:68882225C>T	ENST00000303786.3	+	3	1119	c.699C>T	c.(697-699)ttC>ttT	p.F233F	PROKR1_ENST00000394342.2_Silent_p.F233F			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	233						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGTCCTACTTCCTCTTTATCT	0.557000													14	119					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47676474	47676474	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:47676474A>T	ENST00000273857.4	-	10	1292	c.1293T>A	c.(1291-1293)aaT>aaA	p.N431K	CORIN_ENST00000505909.1_Missense_Mutation_p.N394K|CORIN_ENST00000504584.1_Missense_Mutation_p.N394K|CORIN_ENST00000508498.1_Missense_Mutation_p.N292K|CORIN_ENST00000502252.1_Missense_Mutation_p.N364K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	431					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CAAGGCAGGGATTGTAGAGGC	0.438000													41	107					0	0	1	0	0
MEF2B	100271849	broad.mit.edu	37	19	19258614	19258614	+	Missense_Mutation	SNP	C	C	G	rs138148108		TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:19258614C>G	ENST00000602424.2	-	6	1012	c.286G>C	c.(286-288)Gat>Cat	p.D96H	MEF2B_ENST00000410050.1_Missense_Mutation_p.D96H|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.D96H|MEF2B_ENST00000424583.2_Missense_Mutation_p.D96H|MEF2B_ENST00000409224.1_Missense_Mutation_p.D99H|MEF2B_ENST00000162023.5_Missense_Mutation_p.D96H|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.D113H|MEF2B_ENST00000409447.2_Missense_Mutation_p.D96H	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TCTGGCCCATCGAGGCCAATG	0.647000													20	55					0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86198550	86198550	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr12:86198550G>T	ENST00000361228.3	-	2	1606	c.1238C>A	c.(1237-1239)aCt>aAt	p.T413N		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	413					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTGATACCAGTGTCCGAGTC	0.453000													18	43					9.16793e-09	9.60106e-09	1	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118351365	118351365	+	Silent	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr10:118351365T>A	ENST00000528052.1	+	3	203	c.132T>A	c.(130-132)atT>atA	p.I44I	PNLIPRP1_ENST00000358834.4_Silent_p.I44I|PNLIPRP1_ENST00000534537.1_Silent_p.I44I|PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000442761.1_Silent_p.I44I			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	44					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CCCTGAAAATTCTCCCCTGGA	0.498000													69	105					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43313566	43313566	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr15:43313566T>C	ENST00000290650.4	-	27	2925	c.2847A>G	c.(2845-2847)ggA>ggG	p.G949G	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	949					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGGCTGAACTTCCCAATCCTT	0.383000													32	52					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104037810	104037810	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:104037810C>T	ENST00000265148.3	-	45	7455	c.7366G>A	c.(7366-7368)Gaa>Aaa	p.E2456K	CENPE_ENST00000380026.3_Missense_Mutation_p.E2335K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2456	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCTTCAATTTCTTCTTTATAT	0.289000													4	14					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40392002	40392002	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:40392002C>T	ENST00000406785.2	-	5	2242	c.2053G>A	c.(2053-2055)Gaa>Aaa	p.E685K	SLC8A1_ENST00000403092.1_Missense_Mutation_p.E721K|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E713K|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E685K|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E685K|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E685K|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E721K|SLC8A1_ENST00000542756.1_Missense_Mutation_p.E716K|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E716K|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E685K|SLC8A1-AS1_ENST00000599740.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1						cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACCTTGAATTCATAGGATTCT	0.512000													18	188					0	0	1	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013297	149013297	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:149013297A>T	ENST00000535454.1	+	4	800	c.251A>T	c.(250-252)gAt>gTt	p.D84V	MAGEA8_ENST00000286482.1_Missense_Mutation_p.D84V|MAGEA8_ENST00000542674.1_Missense_Mutation_p.D84V|MAGEA8_ENST00000493910.1_3'UTR	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	84										NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCAATCCGATGAGGGTTCC	0.597000													15	123					0	0	1	0	0
ZNF146	7705	broad.mit.edu	37	19	36727606	36727606	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:36727606T>C	ENST00000456324.1	+	3	1713	c.264T>C	c.(262-264)ctT>ctC	p.L88L	ZNF146_ENST00000443387.2_Silent_p.L88L|ZNF565_ENST00000355114.5_Intron	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	88					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					AAAACCTCCTTACGCACCAGA	0.398000													44	120					0	0	1	0	0
SGPP1	81537	broad.mit.edu	37	14	64152824	64152824	+	Nonstop_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr14:64152824C>G	ENST00000247225.6	-	3	1419	c.1325G>C	c.(1324-1326)tGa>tCa	p.*442S		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	0						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		ACTTCTCCATCAAGAGATACC	0.348000													7	8					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77711737	77711737	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:77711737A>G	ENST00000328313.5	+	5	1490	c.1269A>G	c.(1267-1269)ggA>ggG	p.G423G		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	423					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGCCTGATGGAAGGCCTACTC	0.607000													20	96					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131023520	131023520	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr9:131023520C>T	ENST00000421699.2	-	16	1282	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	GOLGA2_ENST00000609374.1_Missense_Mutation_p.E412K	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	424						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CATTCCTTCTCCTCTCTCAAT	0.607000													49	133					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38773318	38773318	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr6:38773318A>C	ENST00000359357.3	+	21	2699	c.2445A>C	c.(2443-2445)gaA>gaC	p.E815D	DNAH8_ENST00000449981.2_Missense_Mutation_p.E1032D|DNAH8_ENST00000441566.1_Missense_Mutation_p.E815D					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGACTATGAAGCTAATATTG	0.308000													15	42					0	0	1	0	0
TNNC1	7134	broad.mit.edu	37	3	52486514	52486514	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr3:52486514C>A	ENST00000232975.3	-	2	94	c.40G>T	c.(40-42)Gaa>Taa	p.E14*		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	14					cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	TTCTGCTCTTCTGTCAGCTGC	0.537000													6	17					0.00198382	0.00201796	1	1	0
MESP2	145873	broad.mit.edu	37	15	90321349	90321349	+	Silent	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr15:90321349G>C	ENST00000341735.3	+	2	978	c.978G>C	c.(976-978)ctG>ctC	p.L326L	MESP2_ENST00000558723.1_3'UTR|MESP2_ENST00000560219.1_Silent_p.L28L	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	326					Notch signaling pathway	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			CATCTCTCCTGCCCCACCCAT	0.627000													8	47					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216498866	216498866	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:216498866G>C	ENST00000366943.2	-	6	1310	c.924C>G	c.(922-924)caC>caG	p.H308Q	USH2A_ENST00000307340.3_Missense_Mutation_p.H308Q|USH2A_ENST00000366942.3_Missense_Mutation_p.H308Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	308	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGACCCGCGGGTGGCTGCCAG	0.532000										HNSCC(13;0.011)			15	92					0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891510	6891510	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:6891510C>T	ENST00000307322.4	+	1	587	c.525C>T	c.(523-525)gtC>gtT	p.V175V		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGAGGCTGGTCTGTGCAGACA	0.507000													38	136					0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72629560	72629560	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:72629560G>T	ENST00000273951.8	-	5	910	c.567C>A	c.(565-567)tgC>tgA	p.C189*	GC_ENST00000513476.1_Nonsense_Mutation_p.C189*|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Nonsense_Mutation_p.C208*	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	189	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	CAGAGGTACAGCAGGACCCTA	0.373000													21	670					1.64113e-05	1.69531e-05	1	1	0
TBC1D3P5	440419	broad.mit.edu	37	17	25753578	25753578	+	RNA	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:25753578T>C	ENST00000586223.1	+	0	1588					NR_033892.1																						CCTTTAAGGTTCAGAGGAGCA	0.562000													18	51					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73551119	73551119	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr15:73551119G>A	ENST00000339362.5	+	15	2552	c.2105G>A	c.(2104-2106)gGg>gAg	p.G702E	NEO1_ENST00000560262.1_Missense_Mutation_p.G702E|NEO1_ENST00000261908.6_Missense_Mutation_p.G702E|NEO1_ENST00000558964.1_Missense_Mutation_p.G702E			Q92859	NEO1_HUMAN	neogenin 1	702	Fibronectin type-III 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTTGATCGGGGGACTGAGTAT	0.428000													13	62					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48586017	48586017	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:48586017C>T	ENST00000323776.5	+	1	273	c.111C>T	c.(109-111)ttC>ttT	p.F37F	MYCBPAP_ENST00000436259.2_5'UTR|MYCBPAP_ENST00000419930.1_Silent_p.F37F	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	0					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GGCAACGTTTCATGGTGCCGG	0.632000													3	11					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33291676	33291676	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr14:33291676A>G	ENST00000280979.4	+	13	4827	c.4657A>G	c.(4657-4659)Atg>Gtg	p.M1553V	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1553					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATTCACTGGCATGCAGAATGC	0.403000													47	106					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75387466	75387466	+	Silent	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr9:75387466C>G	ENST00000297784.5	+	13	1419	c.879C>G	c.(877-879)ctC>ctG	p.L293L	TMC1_ENST00000340019.3_Silent_p.L293L|TMC1_ENST00000396237.3_Silent_p.L293L	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	293					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TGGTTGTCCTCAAAGCGTAAG	0.363000													43	145					0	0	1	0	0
PFKM	5213	broad.mit.edu	37	12	48528778	48528778	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr12:48528778T>C	ENST00000340802.6	+	11	1237	c.1013T>C	c.(1012-1014)aTt>aCt	p.I338T	PFKM_ENST00000312352.7_Missense_Mutation_p.I267T|PFKM_ENST00000359794.5_Missense_Mutation_p.I267T|PFKM_ENST00000395233.2_Missense_Mutation_p.I267T|PFKM_ENST00000551804.1_Missense_Mutation_p.I267T|PFKM_ENST00000547587.1_Missense_Mutation_p.I267T	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	267					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GAGGGTGCAATTGACAAGAAT	0.463000													20	58					0	0	1	0	0
CLEC7A	64581	broad.mit.edu	37	12	10277901	10277901	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr12:10277901C>T	ENST00000353231.5	-	3	507	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	CLEC7A_ENST00000396484.2_Missense_Mutation_p.E84K|CLEC7A_ENST00000533022.1_Missense_Mutation_p.E163K|CLEC7A_ENST00000298523.5_Missense_Mutation_p.E117K|CLEC7A_ENST00000304084.8_Missense_Mutation_p.E163K	NM_022570.4	NP_072092.2	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	163					carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						CTTACCAATTCATTTGAGCTG	0.388000													28	59					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81381465	81381465	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr7:81381465T>A	ENST00000222390.5	-	5	822	c.596A>T	c.(595-597)gAa>gTa	p.E199V	HGF_ENST00000457544.2_Missense_Mutation_p.E194V|HGF_ENST00000453411.1_Missense_Mutation_p.E194V|HGF_ENST00000444829.2_Missense_Mutation_p.E199V|HGF_ENST00000423064.2_Missense_Mutation_p.E199V	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	199	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GTCACAGACTTCGTAGCGTAC	0.468000													10	62					0	0	1	0	0
HOXD12	3238	broad.mit.edu	37	2	176964998	176964998	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:176964998C>T	ENST00000406506.2	+	1	541	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	HOXD12_ENST00000404162.2_Missense_Mutation_p.P157S			P35452	HXD12_HUMAN	homeobox D12	157						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCAGGGGGCTCCCTGCGCCCC	0.657000													20	38					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65274960	65274960	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:65274960G>A	ENST00000381210.3	-	1	220	c.110C>T	c.(109-111)tCa>tTa	p.S37L	TECRL_ENST00000507440.1_Missense_Mutation_p.S37L	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	37					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TACAAGTTTTGACAAAAAGTG	0.423000													20	54					0	0	1	0	0
POU3F2	5454	broad.mit.edu	37	6	99283810	99283810	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr6:99283810A>C	ENST00000328345.5	+	1	1231	c.1061A>C	c.(1060-1062)aAg>aCg	p.K354T		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	354					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		CAAGGGCGCAAGCGGAAAAAG	0.602000													29	57					0	0	1	0	0
ABR	29	broad.mit.edu	37	17	973249	973249	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:973249C>T	ENST00000544583.2	-	9	1437	c.838G>A	c.(838-840)Gat>Aat	p.D280N	ABR_ENST00000291107.2_Missense_Mutation_p.D289N|ABR_ENST00000302538.5_Missense_Mutation_p.D326N|ABR_ENST00000574437.1_Missense_Mutation_p.D280N|ABR_ENST00000536794.2_Missense_Mutation_p.D108N	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	326	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		AGTAGGACATCTGTAAAGAGG	0.627000													14	39					0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810690	65810690	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:65810690T>C	ENST00000312006.4	-	3	865	c.584A>G	c.(583-585)gAg>gGg	p.E195G	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.E195G	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	195					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GGCGAAGTGCTCGCCAGCGCG	0.682000													13	60					0	0	1	0	0
FAM19A4	151647	broad.mit.edu	37	3	68802143	68802143	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr3:68802143A>T	ENST00000295569.7	-	4	649	c.157T>A	c.(157-159)Tgt>Agt	p.C53S		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	53						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		ACCACCTCACAGGTCCCTTGC	0.522000													6	52					0	0	1	0	0
TMEM144	55314	broad.mit.edu	37	4	159161505	159161505	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:159161505A>G	ENST00000296529.6	+	10	1257	c.737A>G	c.(736-738)tAc>tGc	p.Y246C	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	246						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		AGTACTGTCTACTTTCTGGCC	0.358000													11	53					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149754600	149754600	+	Silent	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr5:149754600A>T	ENST00000451292.1	+	10	1470	c.1362A>T	c.(1360-1362)gcA>gcT	p.A454A	TCOF1_ENST00000377797.3_Silent_p.A454A|TCOF1_ENST00000439160.2_Silent_p.A454A|TCOF1_ENST00000394269.3_Silent_p.A454A|TCOF1_ENST00000323668.7_Silent_p.A377A|TCOF1_ENST00000513346.1_Silent_p.A454A|TCOF1_ENST00000445265.2_Silent_p.A377A|TCOF1_ENST00000504761.2_Silent_p.A454A			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	454					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCCCCAGCACCTCCTAGGA	0.652000													21	30					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63410907	63410907	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:63410907G>A	ENST00000330258.3	-	2	2532	c.2260C>T	c.(2260-2262)Cca>Tca	p.P754S	AMER1_ENST00000374869.3_Missense_Mutation_p.P754S|AMER1_ENST00000403336.1_Missense_Mutation_p.P754S	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TCTTCCTCTGGATCTTCAGGG	0.512000													13	47					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39408737	39408737	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:39408737T>A	ENST00000257408.4	+	1	265	c.168T>A	c.(166-168)gaT>gaA	p.D56E		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	56					carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TCTCTGGAGATGGAAGAGCTA	0.413000													32	90					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50053611	50053611	+	Silent	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:50053611T>A	ENST00000376042.1	+	6	2740	c.2442T>A	c.(2440-2442)gcT>gcA	p.A814A	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.A814A|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	814					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGAAGGAAGCTGTCCTCAAGG	0.567000													5	47					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110441559	110441559	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:110441559A>G	ENST00000265175.5	+	12	2219	c.2164A>G	c.(2164-2166)Acc>Gcc	p.T722A	SEC24B_ENST00000399100.2_Missense_Mutation_p.T687A|SEC24B_ENST00000504968.2_Missense_Mutation_p.T752A	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	722					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGGATTCATGACCTTTGATAG	0.318000													9	57					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32689802	32689802	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:32689802G>A	ENST00000421745.2	+	25	5301	c.5167G>A	c.(5167-5169)Gaa>Aaa	p.E1723K		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1723					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GATTAATGCCGAACTTGCACA	0.433000													4	102					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107434861	107434861	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr7:107434861G>T	ENST00000340010.5	-	2	278	c.94C>A	c.(94-96)Cat>Aat	p.H32N	SLC26A3_ENST00000422236.2_Silent_p.I13I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	32					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AATGTCTTATGATGTCTTCCT	0.338000													14	93					1.5842e-08	1.65254e-08	1	1	0
NFRKB	4798	broad.mit.edu	37	11	129743685	129743685	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:129743685C>G	ENST00000446488.3	-	21	2608	c.2505G>C	c.(2503-2505)caG>caC	p.Q835H	NFRKB_ENST00000524746.1_Missense_Mutation_p.Q835H|NFRKB_ENST00000304521.5_Missense_Mutation_p.Q835H|NFRKB_ENST00000524794.1_Missense_Mutation_p.Q860H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	835					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GAACCCGGATCTGCGGTCCTG	0.622000													17	107					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38132086	38132086	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr21:38132086C>G	ENST00000399120.1	-	10	2967	c.1737G>C	c.(1735-1737)aaG>aaC	p.K579N	HLCS_ENST00000336648.4_Missense_Mutation_p.K579N	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	579					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CTCCGCCGATCTTCATGAGGT	0.378000													36	87					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:7577099C>G	ENST00000420246.2	-	8	971	c.839G>C	c.(838-840)aGa>aCa	p.R280T	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T|TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000269305.4_Missense_Mutation_p.R280T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCCGGTCTCTCCCAGGACA	0.542000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	33					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885587	88885587	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr8:88885587A>G	ENST00000319675.3	-	1	709	c.613T>C	c.(613-615)Tct>Cct	p.S205P		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	205										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ACCTGCTGAGACAAGCCTGTA	0.552000													48	128					0	0	1	0	0
TICAM1	148022	broad.mit.edu	37	19	4817198	4817198	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:4817198C>G	ENST00000248244.5	-	2	1421	c.1192G>C	c.(1192-1194)Gtg>Ctg	p.V398L		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	398	TIR.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGGAGGATCACAAAGTTATAG	0.577000													10	56					0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	619084	619084	+	Silent	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:619084G>A	ENST00000588649.2	-	15	3264	c.3180C>T	c.(3178-3180)ctC>ctT	p.L1060L		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1060	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGGGAGATGAGGCGGGCAC	0.657000													6	46					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124740560	124740560	+	Silent	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:124740560G>A	ENST00000397801.1	+	6	1161	c.969G>A	c.(967-969)acG>acA	p.T323T	ROBO3_ENST00000538940.1_Silent_p.T301T	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	323	Ig-like C2-type 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ATGAGGGAACGTACACCTGTG	0.602000													9	23					0	0	1	0	0
HOOK3	84376	broad.mit.edu	37	8	42821720	42821720	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr8:42821720A>G	ENST00000307602.4	+	10	1084	c.884A>G	c.(883-885)gAa>gGa	p.E295G		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	295					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TTGGCAGATGAAGCTCAGTCT	0.453000			T	RET	papillary thyroid								46	119					0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810742	65810742	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:65810742C>T	ENST00000312006.4	-	3	813	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.A178T	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	178					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TCGAGCGAGGCGTTGGGTACG	0.662000													7	52					0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80159645	80159645	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:80159645T>C	ENST00000389641.4	-	2	212	c.176A>G	c.(175-177)tAc>tGc	p.Y59C	CCDC57_ENST00000392347.1_Missense_Mutation_p.Y59C|CCDC57_ENST00000392343.3_Missense_Mutation_p.Y59C			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	59										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTGAAGGTTGTAGACAAAGTC	0.677000													19	99					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362460	105362460	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr10:105362460C>A	ENST00000369774.4	-	15	2791	c.2515G>T	c.(2515-2517)Gaa>Taa	p.E839*	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Nonsense_Mutation_p.E811*|SH3PXD2A_ENST00000538130.1_Nonsense_Mutation_p.E674*|SH3PXD2A_ENST00000540321.1_Nonsense_Mutation_p.E706*			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	839					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GCTGGCCCTTCCCATTCCTTC	0.632000													31	61					1.30897e-18	1.40398e-18	1	1	0
NANOG	79923	broad.mit.edu	37	12	7942287	7942287	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr12:7942287C>A	ENST00000229307.4	+	1	296	c.77C>A	c.(76-78)cCt>cAt	p.P26H	NANOG_ENST00000526286.1_Missense_Mutation_p.P26H	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	26					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		TCACCTATGCCTGTGATTTGT	0.443000													8	177					0.00136819	0.0013944	1	1	0
ACTR5	79913	broad.mit.edu	37	20	37384545	37384545	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr20:37384545A>T	ENST00000243903.4	+	5	1076	c.1039A>T	c.(1039-1041)Ata>Tta	p.I347L		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	347					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CAAAGCTCTGATAGAGCTGAA	0.478000													31	73					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175365753	175365753	+	Silent	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:175365753G>A	ENST00000367674.2	-	5	1875	c.1167C>T	c.(1165-1167)ctC>ctT	p.L389L	TNR_ENST00000263525.2_Silent_p.L389L			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGTTGTAGGTGAGACCTGGCT	0.602000													14	55					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577505	7577505	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:7577505T>A	ENST00000420246.2	-	7	908	c.776A>T	c.(775-777)gAc>gTc	p.D259V	TP53_ENST00000413465.2_Missense_Mutation_p.D259V|TP53_ENST00000445888.2_Missense_Mutation_p.D259V|TP53_ENST00000359597.4_Missense_Mutation_p.D259V|TP53_ENST00000455263.2_Missense_Mutation_p.D259V|TP53_ENST00000269305.4_Missense_Mutation_p.D259V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	259	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.D259V(18)|p.0?(8)|p.D259G(4)|p.D259F(3)|p.D259fs*5(2)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGACCTGGAGTCTTCCAGTGT	0.587000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	51					0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52949566	52949566	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr14:52949566T>C	ENST00000281741.4	-	13	1597	c.1226A>G	c.(1225-1227)gAc>gGc	p.D409G	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	409	Thioredoxin.				cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TACTATGCTGTCAGAAGCCAT	0.368000													17	29					0	0	1	0	0
FRMD4B	23150	broad.mit.edu	37	3	69245516	69245516	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr3:69245516T>C	ENST00000542259.1	-	15	1413	c.962A>G	c.(961-963)gAg>gGg	p.E321G	FRMD4B_ENST00000478263.1_Missense_Mutation_p.E27G|FRMD4B_ENST00000398540.3_Missense_Mutation_p.E375G			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	375	FERM.					cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CATTGCAATCTCATCTAAACT	0.383000													23	139					0	0	1	0	0
NSG1	27065	broad.mit.edu	37	4	4411367	4411367	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:4411367T>C	ENST00000421177.2	+	8	2305	c.314T>C	c.(313-315)gTg>gCg	p.V105A	NSG1_ENST00000506380.1_Missense_Mutation_p.V105A|NSG1_ENST00000513555.1_Missense_Mutation_p.V105A|NSG1_ENST00000433139.2_Missense_Mutation_p.V105A|NSG1_ENST00000397958.1_Missense_Mutation_p.V105A|NSG1_ENST00000505246.1_Missense_Mutation_p.V105A|NSG1_ENST00000504171.1_Missense_Mutation_p.V66A																							GTCTACAAGGTGTACAAGTAT	0.607000													5	92					0	0	1	0	0
ACTR10	55860	broad.mit.edu	37	14	58678052	58678052	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr14:58678052C>T	ENST00000254286.4	+	5	465	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	129						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						AATGGCTCTTCTGACGCTTGG	0.403000													15	193					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117109057	117109057	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr9:117109057T>C	ENST00000307564.4	-	17	3567	c.3406A>G	c.(3406-3408)Aca>Gca	p.T1136A	AKNA_ENST00000374088.3_Missense_Mutation_p.T1136A|AKNA_ENST00000223791.3_Missense_Mutation_p.T596A|AKNA_ENST00000374079.4_Missense_Mutation_p.T81A|AKNA_ENST00000374075.5_Missense_Mutation_p.T1055A	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AATCTCTCTGTGGATTTACTA	0.493000													20	53					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086016	92086016	+	Silent	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:92086016G>T	ENST00000298047.6	+	1	755	c.738G>T	c.(736-738)gtG>gtT	p.V246V	FAT3_ENST00000409404.2_Silent_p.V246V|FAT3_ENST00000541502.1_Silent_p.V246V|FAT3_ENST00000525166.1_Silent_p.V96V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	246	Cadherin 2.				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)				ACAATGGAGTGAGCAGTACTG	0.408000										TCGA Ovarian(4;0.039)			60	145					3.57465e-26	3.87314e-26	1	1	0
HNRNPH2	3188	broad.mit.edu	37	X	100667415	100667415	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:100667415T>A	ENST00000316594.5	+	2	517	c.439T>A	c.(439-441)Ttt>Att	p.F147I		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	147	RRM 2.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						GCCAGTGGACTTTCAGGGGCG	0.488000													14	128					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103268850	103268850	+	Splice_Site	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr13:103268850A>T	ENST00000376052.3	+	4	511	c.495A>T	c.(493-495)caA>caT	p.Q165H	TPP2_ENST00000376065.4_Splice_Site_p.Q165H			P29144	TPP2_HUMAN	tripeptidyl peptidase II	165					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTCTTCTCAAGTTGGTGCTA	0.398000													15	45					0	0	1	0	0
KIF5B	3799	broad.mit.edu	37	10	32324546	32324546	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr10:32324546G>A	ENST00000302418.4	-	10	1323	c.866C>T	c.(865-867)tCa>tTa	p.S289L		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	289	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GCCACCTAATGAATCTTGAAG	0.328000			T	"""RET, ALK"""	NSCLC								20	47					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:37868208C>T	ENST00000406381.2	+	10	1349	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			69	231					0	0	1	0	0
AHCYL1	10768	broad.mit.edu	37	1	110561035	110561035	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:110561035G>A	ENST00000369799.5	+	12	1531	c.1164G>A	c.(1162-1164)atG>atA	p.M388I	AHCYL1_ENST00000393614.4_Missense_Mutation_p.M341I|AHCYL1_ENST00000359172.3_Missense_Mutation_p.M341I	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	388	NAD binding (By similarity).				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		TGGATCGCATGAAAAACAGTT	0.443000													28	43					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45518260	45518260	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr21:45518260A>T	ENST00000291574.4	+	21	3366	c.3191A>T	c.(3190-3192)gAg>gTg	p.E1064V		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1064					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTGAAGGCTGAGATCTTTCCC	0.483000													44	180					0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24739200	24739200	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr14:24739200A>C	ENST00000399409.3	-	4	869	c.386T>G	c.(385-387)cTg>cGg	p.L129R	RABGGTA_ENST00000560777.1_5'UTR|RABGGTA_ENST00000559586.1_5'UTR|RABGGTA_ENST00000216840.6_Missense_Mutation_p.L129R	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	129					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		ACAGAGCTCCAGCTCTCGGGT	0.627000													11	21					0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79699185	79699185	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:79699185C>T	ENST00000538312.1	+	5	1481	c.1147C>T	c.(1147-1149)Cgt>Tgt	p.R383C	FAM46D_ENST00000308293.5_Missense_Mutation_p.R383C	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	383										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						ACTGCACTTTCGTGGATCAAA	0.403000													7	42					0	0	1	0	0
CORO7	79585	broad.mit.edu	37	16	4412729	4412729	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr16:4412729G>C	ENST00000251166.4	-	15	1431	c.1286C>G	c.(1285-1287)tCt>tGt	p.S429C	CORO7_ENST00000537233.2_Missense_Mutation_p.S411C|CORO7_ENST00000423908.2_Missense_Mutation_p.S261C|CORO7_ENST00000539968.1_Missense_Mutation_p.S209C|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.S429C|CORO7_ENST00000574025.1_Missense_Mutation_p.S344C	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GGGAGGGGAAGAGAAACCCTC	0.667000													4	9					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19430583	19430583	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:19430583G>C	ENST00000375267.2	-	87	12899	c.12896C>G	c.(12895-12897)aCc>aGc	p.T4299S	UBR4_ENST00000375226.2_Missense_Mutation_p.T4275S|UBR4_ENST00000375254.3_Missense_Mutation_p.T4299S|UBR4_ENST00000375224.1_Missense_Mutation_p.T6S|UBR4_ENST00000375217.2_Missense_Mutation_p.T4292S			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4299					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCTACCTGTGGTCATGTCCTC	0.582000													22	105					0	0	1	0	0
ALG5	29880	broad.mit.edu	37	13	37559764	37559764	+	Splice_Site	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr13:37559764A>G	ENST00000239891.3	-	6	627	c.561T>C	c.(559-561)ccT>ccC	p.P187P	ALG5_ENST00000443765.1_Splice_Site_p.P157P|ALG5_ENST00000413537.2_Splice_Site_p.P187P	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	187					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TTATACTCACAGGCCAAGGCT	0.383000													13	45					0	0	1	0	0
SLU7	10569	broad.mit.edu	37	5	159835419	159835419	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr5:159835419C>T	ENST00000297151.4	-	8	1123	c.736G>A	c.(736-738)Gat>Aat	p.D246N		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	246					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGTCAATATCATCTGCATAT	0.373000													17	52					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98920260	98920260	+	Silent	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:98920260A>T	ENST00000477737.1	+	26	3720	c.3516A>T	c.(3514-3516)ccA>ccT	p.P1172P	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1172										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTGAGGATCCAGAAGTGTAAG	0.378000													20	52					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740297	37740297	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr9:37740297A>G	ENST00000539465.1	+	15	2365	c.1772A>G	c.(1771-1773)gAc>gGc	p.D591G	FRMPD1_ENST00000541302.1_Missense_Mutation_p.D460G|FRMPD1_ENST00000377765.3_Missense_Mutation_p.D591G|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.D413G			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	591						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GAGGCGTCCGACTCAGCCAAC	0.652000													16	41					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37154110	37154110	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr20:37154110C>T	ENST00000262879.6	+	12	2135	c.1851C>T	c.(1849-1851)atC>atT	p.I617I	RALGAPB_ENST00000397040.1_Silent_p.I617I|RALGAPB_ENST00000397042.3_Silent_p.I617I|RALGAPB_ENST00000397038.1_Silent_p.I395I			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	617					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCATTAATATCCTGCTTTCTT	0.318000													45	179					0	0	1	0	0
ERO1L	30001	broad.mit.edu	37	14	53119989	53119989	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr14:53119989G>A	ENST00000395686.3	-	12	1076	c.853C>T	c.(853-855)Caa>Taa	p.Q285*		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	285					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					AATCGCTGTTGAAATTCTGTA	0.318000													20	146					0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4721767	4721767	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr12:4721767C>A	ENST00000540757.2	+	12	1364	c.1204C>A	c.(1204-1206)Cag>Aag	p.Q402K	RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000543431.1_Missense_Mutation_p.Q402K|DYRK4_ENST00000010132.5_Missense_Mutation_p.Q402K|DYRK4_ENST00000545342.1_Missense_Mutation_p.Q39K	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	402						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q804E(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TTGGATTCATCAGTCTCGGAA	0.527000													52	144					5.57489e-27	6.05274e-27	1	1	0
CD1D	912	broad.mit.edu	37	1	158153756	158153756	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:158153756C>T	ENST00000368171.3	+	6	1416	c.917C>T	c.(916-918)gCc>gTc	p.A306V		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	306					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGCTTGATTGCCTTGGCAGTC	0.542000													36	227					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14543083	14543083	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr18:14543083C>T	ENST00000358970.5	-	1	62	c.63G>A	c.(61-63)agG>agA	p.R21R	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	21										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCATCTTGCTCCTGAGATCGA	0.562000													47	147					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932967	83932967	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr15:83932967C>G	ENST00000345382.2	-	4	1121	c.1036G>C	c.(1036-1038)Gag>Cag	p.E346Q	BNC1_ENST00000569704.1_Missense_Mutation_p.E339Q|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	346					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CTATTCCTCTCAGGCTTCACT	0.458000													13	75					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528872	20528872	+	Silent	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr14:20528872C>A	ENST00000315683.1	+	1	669	c.669C>A	c.(667-669)gtC>gtA	p.V223V		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCATCCTGGTCAGTGTACCAA	0.438000													22	129					3.7963e-18	4.04736e-18	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48318152	48318152	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr7:48318152C>T	ENST00000435803.1	+	18	7385	c.7361C>T	c.(7360-7362)aCg>aTg	p.T2454M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2454					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCTAATCTAACGGATTTGCTT	0.343000													28	121					0	0	1	0	0
ANGPTL3	27329	broad.mit.edu	37	1	63067473	63067473	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:63067473G>C	ENST00000371129.3	+	4	835	c.755G>C	c.(754-756)aGa>aCa	p.R252T	DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000340370.5_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	252	Fibrinogen C-terminal.				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						ATTTATAACAGAGGTGAACAT	0.358000													24	88					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149877504	149877504	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:149877504A>G	ENST00000369146.3	-	12	2463	c.1973T>C	c.(1972-1974)tTt>tCt	p.F658S	SV2A_ENST00000369145.1_Missense_Mutation_p.F658S	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	658					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GACCCCGCCAAAAAGGCAGAG	0.557000													52	137					0	0	1	0	0
SLC9B2	133308	broad.mit.edu	37	4	103988640	103988640	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:103988640G>T	ENST00000394785.3	-	2	699	c.68C>A	c.(67-69)cCc>cAc	p.P23H	SLC9B2_ENST00000362026.3_Missense_Mutation_p.P23H|SLC9B2_ENST00000505838.1_5'UTR|SLC9B2_ENST00000503103.1_Missense_Mutation_p.P23H|SLC9B2_ENST00000339611.4_Missense_Mutation_p.P23H|SLC9B2_ENST00000503230.1_Missense_Mutation_p.P23H	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	23					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										ATGCATGGAGGGCGTGTAATT	0.363000													7	54					0.000274275	0.000280605	1	1	0
DDX11	1663	broad.mit.edu	37	12	31240903	31240903	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr12:31240903G>C	ENST00000251758.5	+	7	1109	c.858G>C	c.(856-858)aaG>aaC	p.K286N	DDX11_ENST00000545668.1_Missense_Mutation_p.E224Q|DDX11_ENST00000407793.2_Missense_Mutation_p.E224Q|DDX11_ENST00000542838.1_Missense_Mutation_p.E224Q|DDX11_ENST00000228264.6_Missense_Mutation_p.E198Q|DDX11_ENST00000350437.4_Missense_Mutation_p.E224Q			Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	0	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCTGGAGGAAGAACACATAAC	0.532000										Multiple Myeloma(12;0.14)			9	34					0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30097554	30097554	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr13:30097554C>T	ENST00000380752.5	-	7	1284	c.898G>A	c.(898-900)Gcc>Acc	p.A300T		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	300					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCAAAGTAGGCGATGAAGCAG	0.602000													17	60					0	0	1	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047221	46047221	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr21:46047221C>A	ENST00000397911.3	+	1	182	c.133C>A	c.(133-135)Ctg>Atg	p.L45M	KRTAP10-9_ENST00000484861.1_3'UTR|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	45	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CTGCCTGACCCTGGTCTGCAC	0.697000													51	95					1.21353e-23	1.30953e-23	1	1	0
ANKRD18A	253650	broad.mit.edu	37	9	38577921	38577921	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr9:38577921C>T	ENST00000399703.5	-	13	2846	c.2472G>A	c.(2470-2472)tcG>tcA	p.S824S		NM_147195.2	NP_671728.2	Q8IVF6	AN18A_HUMAN	ankyrin repeat domain 18A	824										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						CATCCAGCTCCGATTTATATT	0.318000													3	15					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118441366	118441366	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr10:118441366A>T	ENST00000369209.3	-	8	962	c.858T>A	c.(856-858)aaT>aaA	p.N286K		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	286							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GACTCTGCCGATTACGCCGTA	0.473000											OREG0020558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	37					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228486381	228486381	+	Nonsense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:228486381T>A	ENST00000570156.2	+	49	13247	c.13173T>A	c.(13171-13173)tgT>tgA	p.C4391*	RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.C1081*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3434	Ig-like 45.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CATGCATGTGTGGACAAGAGA	0.547000													26	80					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178541275	178541275	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr5:178541275A>G	ENST00000251582.7	-	22	3330	c.3229T>C	c.(3229-3231)Tcc>Ccc	p.S1077P		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1077	PLAC.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAATAGCGGGACAAGACTTCC	0.507000													9	26					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61538745	61538745	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:61538745C>G	ENST00000398571.2	-	27	3823	c.3747G>C	c.(3745-3747)caG>caC	p.Q1249H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1249					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTTGTTCTTTCTGTAAATTTT	0.368000													23	43					0	0	1	0	0
LGALS14	56891	broad.mit.edu	37	19	40197889	40197889	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:40197889G>A	ENST00000392052.3	+	3	387	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	LGALS14_ENST00000360675.3_Missense_Mutation_p.R84Q	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	55	Galectin.					nucleus	sugar binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			TTCCAATTCCGACTGCACTTT	0.458000													44	130					0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111944588	111944588	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr13:111944588C>G	ENST00000375741.2	+	20	2571	c.2321C>G	c.(2320-2322)tCt>tGt	p.S774C	ARHGEF7_ENST00000375739.2_Missense_Mutation_p.S724C|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.S753C|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.S596C|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.S518C|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.S596C|ARHGEF7_ENST00000375736.4_Intron|ARHGEF7_ENST00000375737.5_Intron|ARHGEF7_ENST00000426073.2_Intron	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	774					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCGGAAGACTCTGACTATGAC	0.478000													17	93					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42176860	42176860	+	Silent	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr8:42176860C>G	ENST00000520810.1	+	14	1623	c.1437C>G	c.(1435-1437)ctC>ctG	p.L479L	IKBKB_ENST00000522785.1_3'UTR|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Silent_p.L477L|IKBKB_ENST00000416505.2_Silent_p.L420L|IKBKB_ENST00000379708.3_Silent_p.L256L	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	479	Leucine-zipper.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CTCAGCAGCTCAAGGCCAAGT	0.488000											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	105					0	0	1	0	0
PNKD	25953	broad.mit.edu	37	2	219208297	219208297	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:219208297C>A	ENST00000273077.4	+	8	907	c.856C>A	c.(856-858)Ctt>Att	p.L286I	PNKD_ENST00000258362.3_Missense_Mutation_p.L262I|PNKD_ENST00000436005.2_Missense_Mutation_p.L226I|AC021016.8_ENST00000411433.1_RNA	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	286						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGATGACACCCTTCTGTGGCC	0.622000													6	13					0.0215528	0.021716	1	1	0
ZNF645	158506	broad.mit.edu	37	X	22291226	22291226	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:22291226G>T	ENST00000323684.1	+	1	162	c.118G>T	c.(118-120)Gac>Tac	p.D40Y		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	40						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						CCGTTGGGGGGACATTAAGAT	0.348000													32	73					4.02929e-09	4.23633e-09	1	1	0
HAUS5	23354	broad.mit.edu	37	19	36109033	36109033	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:36109033G>C	ENST00000203166.5	+	10	782	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	HAUS5_ENST00000379045.2_Missense_Mutation_p.E253Q	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	253					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CCTGGCTGCAGAGCGGGAGGC	0.642000													16	138					0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53209742	53209742	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:53209742G>A	ENST00000543227.1	-	6	840	c.566C>T	c.(565-567)tCa>tTa	p.S189L	ZNF611_ENST00000319783.1_Missense_Mutation_p.S189L|ZNF611_ENST00000595798.1_Missense_Mutation_p.S120L|ZNF611_ENST00000453741.2_Missense_Mutation_p.S120L|ZNF611_ENST00000540744.1_Missense_Mutation_p.S189L|ZNF611_ENST00000602162.1_Missense_Mutation_p.S120L	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGTTGAAACTGAGGGAGCATC	0.383000													59	161					0	0	1	0	0
NLRP6	171389	broad.mit.edu	37	11	281623	281623	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:281623A>G	ENST00000534750.1	+	4	2094	c.1889A>G	c.(1888-1890)gAg>gGg	p.E630G	NLRP6_ENST00000312165.5_Missense_Mutation_p.E630G	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	630						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGACGCAGGAGGACGCGTTT	0.642000													72	186					0	0	1	0	0
C4orf26	152816	broad.mit.edu	37	4	76489700	76489700	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:76489700G>A	ENST00000435974.2	+	3	506	c.488G>A	c.(487-489)aGa>aAa	p.R163K	C4orf26_ENST00000311623.4_3'UTR	NM_001206981.1	NP_001193910.1	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	0						extracellular region		p.R163I(1)		kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTATCCTTCAGAAAAAAGCAA	0.363000													13	60					0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102562566	102562566	+	Nonsense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:102562566A>T	ENST00000260229.4	-	10	1564	c.1473T>A	c.(1471-1473)taT>taA	p.Y491*		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	491					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		AACTCTTATGATACAATATCT	0.303000													7	54					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179638270	179638270	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:179638270T>A	ENST00000589042.1	-	32	7737	c.7513A>T	c.(7513-7515)Aac>Tac	p.N2505Y	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N2505Y|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N2459Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N2459Y|TTN_ENST00000360870.5_Missense_Mutation_p.N2505Y|TTN_ENST00000342992.6_Missense_Mutation_p.N2505Y|TTN_ENST00000460472.2_Missense_Mutation_p.N2459Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2234	Ig-like 14.						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)			TGAGTTCGGTTAATGACTAGT	0.403000													35	35					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	118975465	118975465	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:118975465G>A	ENST00000296499.5	+	2	803	c.400G>A	c.(400-402)Gag>Aag	p.E134K	NDST3_ENST00000433996.2_Missense_Mutation_p.E134K	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	134	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CATTATTTATGAGAATATTTT	0.348000													12	39					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8387498	8387498	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:8387498C>T	ENST00000360416.3	-	37	5271	c.5133G>A	c.(5131-5133)aaG>aaA	p.K1711K	MYH10_ENST00000269243.4_Silent_p.K1680K|MYH10_ENST00000396239.1_Silent_p.K1701K|MYH10_ENST00000379980.4_Silent_p.K1696K	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1680					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCTTCAATTTCTTTTCACTCT	0.363000													30	109					0	0	1	0	0
NUDCD2	134492	broad.mit.edu	37	5	162881036	162881036	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr5:162881036A>G	ENST00000302764.4	-	4	500	c.411T>C	c.(409-411)agT>agC	p.S137S	NUDCD2_ENST00000517501.1_Silent_p.S112S	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	137						intracellular				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		TTTCTGCTCCACTGAAGTCAA	0.328000													8	45					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36339023	36339023	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:36339023T>G	ENST00000378910.5	-	11	1359	c.1360A>C	c.(1360-1362)Aag>Cag	p.K454Q	NPHS1_ENST00000353632.6_Missense_Mutation_p.K454Q	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	454	Ig-like C2-type 5.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCCGGAGCTTCTGGCCCTCT	0.622000													37	131					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70959496	70959496	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr15:70959496A>G	ENST00000322954.6	-	16	3712	c.3527T>C	c.(3526-3528)tTt>tCt	p.F1176S	UACA_ENST00000539319.1_Missense_Mutation_p.F1067S|UACA_ENST00000560441.1_Missense_Mutation_p.F1161S|UACA_ENST00000379983.2_Missense_Mutation_p.F1163S	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1176						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTCTTTCTCAAATGCTTCTTT	0.413000													5	154					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363164	22363164	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:22363164T>C	ENST00000397121.2	-	3	1672	c.1355A>G	c.(1354-1356)gAa>gGa	p.E452G		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GCCACATTCTTCACATTTGTA	0.438000													32	92					0	0	1	0	0
DTNBP1	84062	broad.mit.edu	37	6	15593314	15593314	+	Splice_Site	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr6:15593314T>C	ENST00000338950.5	-	7	594		c.e7-2		DTNBP1_ENST00000344537.5_Splice_Site|DTNBP1_ENST00000355917.3_Intron	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1						actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			AGTTCCTTCCTGTAGGAAAAA	0.308000									Hermansky-Pudlak syndrome				11	10					0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209776593	209776593	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:209776593A>G	ENST00000009105.1	+	4	501	c.256A>G	c.(256-258)Atc>Gtc	p.I86V	CAMK1G_ENST00000361322.2_Missense_Mutation_p.I86V			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	86	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CCTGGAGGACATCTATGAGAG	0.483000													16	44					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63970083	63970083	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr15:63970083G>A	ENST00000443617.2	-	37	7118	c.7031C>T	c.(7030-7032)tCt>tTt	p.S2344F	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2344					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GACCTTGGCAGACGTGCTGCC	0.478000													81	188					0	0	1	0	0
CAAP1	79886	broad.mit.edu	37	9	26884874	26884874	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr9:26884874C>T	ENST00000333916.5	-	4	687	c.599G>A	c.(598-600)gGa>gAa	p.G200E	CAAP1_ENST00000535437.1_Missense_Mutation_p.G55E|CAAP1_ENST00000520187.1_Intron|CAAP1_ENST00000495958.1_5'UTR	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CI082_HUMAN	caspase activity and apoptosis inhibitor 1	200																	AGAGTCCATTCCATTGTCACC	0.284000													46	150					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47622868	47622868	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr16:47622868A>T	ENST00000455779.1	+	11	1087	c.902A>T	c.(901-903)gAt>gTt	p.D301V	PHKB_ENST00000323584.5_Missense_Mutation_p.D308V|PHKB_ENST00000566044.1_Missense_Mutation_p.D301V|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000299167.8_Missense_Mutation_p.D308V			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	308					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTTGCCCTGGATGATGAAGTT	0.413000													26	50					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49662194	49662194	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr10:49662194T>C	ENST00000249601.4	-	7	1099	c.803A>G	c.(802-804)gAg>gGg	p.E268G	ARHGAP22_ENST00000374170.1_Intron|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.E159G|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.E284G|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.E274G|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.E178G	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	268	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTAGCCAACTCCAGAGTGCC	0.517000													18	66					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21350043	21350043	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr22:21350043C>G	ENST00000215739.8	+	17	2310	c.1951C>G	c.(1951-1953)Ctg>Gtg	p.L651V	LZTR1_ENST00000389355.3_Missense_Mutation_p.L632V|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	651					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGGCACATCTCTGATCCAGGA	0.607000													362	168					0	0	1	0	0
CCDC96	257236	broad.mit.edu	37	4	7043224	7043224	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:7043224G>A	ENST00000310085.4	-	1	1504	c.1442C>T	c.(1441-1443)aCg>aTg	p.T481M	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	481										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						GGCTTGCTTCGTCTTGGTCAG	0.547000													5	261					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107977171	107977171	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:107977171A>T	ENST00000372129.2	-	1	2480	c.2404T>A	c.(2404-2406)Tcc>Acc	p.S802T		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	802						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CAACTTTTGGAGGAAGAGCCA	0.473000													38	250					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93498722	93498722	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr15:93498722G>A	ENST00000394196.4	+	15	2857	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	CHD2_ENST00000557381.1_Missense_Mutation_p.E597K	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	597	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AACAACATATGAGATCCTCTT	0.338000													10	15					0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	29781212	29781212	+	Splice_Site	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr3:29781212A>G	ENST00000434693.2	+	5	1098	c.398A>G	c.(397-399)cAa>cGa	p.Q133R	RBMS3_ENST00000445033.1_Splice_Site_p.Q134R|RBMS3_ENST00000383767.2_Splice_Site_p.Q134R|RBMS3_ENST00000456853.1_Splice_Site_p.Q134R|RBMS3_ENST00000383766.2_Splice_Site_p.Q133R|RBMS3_ENST00000452462.1_Splice_Site_p.Q134R|RBMS3_ENST00000273139.9_Splice_Site_p.Q134R|RBMS3_ENST00000396583.3_Splice_Site_p.Q134R	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	134	RRM 1.					cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TTCCCTTAGCAACAAGAGCAA	0.358000													51	128					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53820934	53820934	+	Silent	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr3:53820934A>T	ENST00000288139.4	+	41	5056	c.4938A>T	c.(4936-4938)ggA>ggT	p.G1646G	CACNA1D_ENST00000422281.2_Silent_p.G1611G|CACNA1D_ENST00000540742.1_Silent_p.G518G|CACNA1D_ENST00000350061.5_Silent_p.G1626G	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AAGAACAAGGACTGGTGGGAA	0.418000													10	39					0	0	1	0	0
CABP5	56344	broad.mit.edu	37	19	48542541	48542541	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:48542541T>C	ENST00000293255.2	-	4	402	c.272A>G	c.(271-273)gAg>gGg	p.E91G		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	91	EF-hand 2.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		GGTCATCAGCTCCACAAAGTC	0.532000													20	83					0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35850630	35850630	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:35850630T>A	ENST00000327809.4	+	2	1039	c.838T>A	c.(838-840)Tcc>Acc	p.S280T	FFAR3_ENST00000594310.1_Missense_Mutation_p.S280T	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	280						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTACTTCTCCTCCTCCGGGTT	0.587000													24	175					0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110007975	110007975	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:110007975A>G	ENST00000453089.2	+	1	1397	c.516A>G	c.(514-516)ggA>ggG	p.G172G	ZC3H12C_ENST00000278590.3_Silent_p.G203G|ZC3H12C_ENST00000528673.1_Silent_p.G204G			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	203							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TCAAACTTGGAAATAAAAGTG	0.368000													10	30					0	0	1	0	0
PRR25	388199	broad.mit.edu	37	16	863580	863580	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr16:863580C>T	ENST00000301698.1	+	3	928	c.928C>T	c.(928-930)Ccg>Tcg	p.P310S		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	310										large_intestine(1)|lung(1)|skin(1)	3						GCTTCTGCCCCCGGGGGACGC	0.672000													7	13					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57742152	57742152	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:57742152G>C	ENST00000269122.3	+	10	1800	c.1526G>C	c.(1525-1527)gGa>gCa	p.G509A	CLTC_ENST00000393043.1_Missense_Mutation_p.G509A|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	509	Flexible linker.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTATAGGTTGGATACACTCCA	0.348000			T	"""ALK, TFE3"""	"""ALCL, renal """								14	65					0	0	1	0	0
SUCLA2	8803	broad.mit.edu	37	13	48542734	48542734	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr13:48542734T>C	ENST00000378654.3	-	6	854	c.798A>G	c.(796-798)ggA>ggG	p.G266G	SUCLA2_ENST00000543413.1_Silent_p.G208G|SUCLA2_ENST00000534875.1_Silent_p.G208G|SUCLA2_ENST00000544100.1_Silent_p.G132G	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	266	ATP-grasp.				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	CTTTACCAGCTCCATCTGAAT	0.338000													22	19					0	0	1	0	0
FAM98C	147965	broad.mit.edu	37	19	38896245	38896245	+	Silent	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:38896245A>T	ENST00000252530.5	+	6	739	c.720A>T	c.(718-720)acA>acT	p.T240T	FAM98C_ENST00000343358.7_Silent_p.T214T|FAM98C_ENST00000588262.1_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	240			T -> K (in dbSNP:rs3745962).							endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACCTCACTACATCTGCTTTCC	0.607000													18	67					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27419978	27419978	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:27419978C>G	ENST00000527372.1	-	33	5148	c.4968G>C	c.(4966-4968)aaG>aaC	p.K1656N	MYO18A_ENST00000533112.1_Missense_Mutation_p.K1619N|MYO18A_ENST00000531253.1_Missense_Mutation_p.K1656N|MYO18A_ENST00000354329.4_Missense_Mutation_p.K1656N	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1656					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCTTCAGGTCCTTCCGCAGCC	0.612000													21	55					0	0	1	0	0
PTBP1	5725	broad.mit.edu	37	19	804061	804061	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:804061C>G	ENST00000356948.6	+	4	564	c.141C>G	c.(139-141)ttC>ttG	p.F47L	PTBP1_ENST00000394601.4_Missense_Mutation_p.F47L|PTBP1_ENST00000349038.4_Missense_Mutation_p.F47L|PTBP1_ENST00000350092.4_Intron	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	47					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAAGAAGTTCAAAGGTGACA	0.587000													12	51					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90660282	90660282	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr6:90660282T>C	ENST00000257749.4	-	7	2250	c.1543A>G	c.(1543-1545)Acc>Gcc	p.T515A	BACH2_ENST00000537989.1_Missense_Mutation_p.T515A|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.T515A	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	515						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CTGGTCCTGGTCTCCAAGGGG	0.642000													35	48					0	0	1	0	0
TRBV11-1	28582	broad.mit.edu	37	7	142223871	142223871	+	RNA	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr7:142223871T>A	ENST00000390367.3	-	0	312																											CTCTGCAGGCTGGATCTTGAG	0.502000													35	169					0	0	1	0	0
ZNF157	7712	broad.mit.edu	37	X	47269690	47269690	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:47269690G>A	ENST00000377073.3	+	2	174	c.88G>A	c.(88-90)Gag>Aag	p.E30K		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	30	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CGTGTCATTCGAGGATGTGGC	0.493000													41	59					0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71427164	71427164	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:71427164A>T	ENST00000373657.1	-	3	1686	c.1084T>A	c.(1084-1086)Tcg>Acg	p.S362T	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.S485T			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	485					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ATTTGCCTCGATTGAGAAAAC	0.393000													12	67					0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64769402	64769402	+	Splice_Site	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr5:64769402A>T	ENST00000536360.1	-	2	911		c.e2+1					Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CAAGAATCCTACCTTGAGAAC	0.358000													46	100					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242147076	242147076	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:242147076C>T	ENST00000274979.8	+	11	1333	c.1230C>T	c.(1228-1230)gcC>gcT	p.A410A	ANO7_ENST00000402430.3_Silent_p.A409A	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	410						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCGCCTGTGCCCTGGCCCAGG	0.617000													45	66					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179564637	179564637	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr5:179564637G>A	ENST00000393371.2	-	2	549	c.253C>T	c.(253-255)Cac>Tac	p.H85Y	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.H85Y			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	85	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGCACAGGTGGCAGACCCGG	0.647000													15	42					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634773	32634773	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr9:32634773T>C	ENST00000242310.4	-	1	894	c.805A>G	c.(805-807)Aag>Gag	p.K269E	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	269					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGGACATTCTTCCCTGGTCCA	0.493000													43	115					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48947539	48947539	+	Splice_Site	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr13:48947539A>G	ENST00000267163.4	+	12	1265		c.e12-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TATCCCCTCTAGGACTGTTAT	0.303000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			33	67					0	0	1	0	0
OR7A10	390892	broad.mit.edu	37	19	14952606	14952606	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:14952606A>G	ENST00000248058.1	-	1	83	c.84T>C	c.(82-84)ttT>ttC	p.F28F		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					GGAACAGCCCAAAGAGGAAGG	0.473000													13	86					0	0	1	0	0
IGHV4-31	28396	broad.mit.edu	37	14	106805316	106805316	+	RNA	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr14:106805316A>G	ENST00000438142.2	-	0	318																											CTCTTGAGGGACGGGTTGTAG	0.547000													110	162					0	0	1	0	0
ACN9	57001	broad.mit.edu	37	7	96747179	96747179	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr7:96747179C>G	ENST00000432641.2	+	1	1278	c.144C>G	c.(142-144)gaC>gaG	p.D48E	ACN9_ENST00000360382.4_Missense_Mutation_p.D48E	NM_020186.2	NP_064571.1	Q9NRP4	ACN9_HUMAN	ACN9 homolog (S. cerevisiae)	48					regulation of gluconeogenesis	mitochondrial intermembrane space				large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					TTGGTTCTGACGAGGCACAGC	0.547000													25	49					0	0	1	0	0
ZNF250	58500	broad.mit.edu	37	8	146107407	146107407	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr8:146107407C>G	ENST00000292579.7	-	6	1292	c.1176G>C	c.(1174-1176)gaG>gaC	p.E392D	ZNF250_ENST00000417550.2_Missense_Mutation_p.E387D|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		CATAGGGCTTCTCCCCGGTGT	0.592000													12	63					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304067	10304067	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:10304067G>C	ENST00000403437.2	-	27	3469	c.3375C>G	c.(3373-3375)atC>atG	p.I1125M	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1125					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCTCTGCCTCGATTTCTTCCC	0.537000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				32	69					0	0	1	0	0
PGC	5225	broad.mit.edu	37	6	41712464	41712464	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr6:41712464A>G	ENST00000373025.3	-	2	204	c.142T>C	c.(142-144)Tat>Cat	p.Y48H	PGC_ENST00000425343.2_Missense_Mutation_p.Y48H	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	48					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GCAGGATCATACTTGTGGGTC	0.527000													10	27					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066215	9066215	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:9066215T>A	ENST00000397910.4	-	3	21434	c.21231A>T	c.(21229-21231)agA>agT	p.R7077S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7079	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCCAGGACCTCTGCTCATGA	0.512000													21	66					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60038273	60038273	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:60038273C>G	ENST00000397786.2	-	23	5511	c.5435G>C	c.(5434-5436)gGa>gCa	p.G1812A		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1812					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TAAAAGTTCTCCATATAGATC	0.313000													13	50					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32906757	32906757	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr13:32906757A>G	ENST00000544455.1	+	10	1369	c.1142A>G	c.(1141-1143)gAc>gGc	p.D381G	BRCA2_ENST00000380152.3_Missense_Mutation_p.D381G	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	381					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGTGGAAGTGACAAAATCTCC	0.403000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			36	244					0	0	1	0	0
TYRP1	7306	broad.mit.edu	37	9	12702280	12702280	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr9:12702280A>T	ENST00000388918.5	+	5	1052	c.923A>T	c.(922-924)gAt>gTt	p.D308V	TYRP1_ENST00000381136.2_Missense_Mutation_p.D18V|TYRP1_ENST00000381137.2_Missense_Mutation_p.D18V|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	308					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GGCACCGAGGATGGGCCAATT	0.428000									Oculocutaneous Albinism				12	57					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179464159	179464159	+	Silent	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:179464159A>T	ENST00000589042.1	-	290	56585	c.56361T>A	c.(56359-56361)ccT>ccA	p.P18787P	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Silent_p.P17146P|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.P9914P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.P9847P|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.P16219P|TTN_ENST00000460472.2_Silent_p.P9722P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17146	Fibronectin type-III 36.						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)			GTCCCACTGGAGGGCCAGGAC	0.358000													26	39					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230672554	230672554	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:230672554T>A	ENST00000283943.5	-	16	2400	c.2222A>T	c.(2221-2223)gAa>gTa	p.E741V	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.E789V|TRIP12_ENST00000389045.3_Missense_Mutation_p.E444V	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	741					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAAAATGCCTTCTTTTGGTAA	0.373000													9	18					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601955	138601955	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr7:138601955G>C	ENST00000440172.1	-	2	2465	c.2417C>G	c.(2416-2418)tCa>tGa	p.S806*	KIAA1549_ENST00000422774.1_Nonsense_Mutation_p.S806*|KIAA1549_ENST00000242365.4_Nonsense_Mutation_p.S756*	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	806						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGTCAGAGTTGAGAACAAAGA	0.493000			O	BRAF	pilocytic astrocytoma								8	26					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399001	22399001	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:22399001T>C	ENST00000263160.3	+	12	1901	c.1464T>C	c.(1462-1464)taT>taC	p.Y488Y		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	488					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TAGTCCACTATGGTGGAGTTA	0.443000													11	48					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100866426	100866426	+	Silent	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr8:100866426G>A	ENST00000358544.2	+	56	10995	c.10884G>A	c.(10882-10884)gcG>gcA	p.A3628A	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.A3603A	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3628					protein transport			p.A3603A(1)|p.A3628A(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCACCACTGCGAGGCAGCTTG	0.562000													13	50					0	0	1	0	0
PEX13	5194	broad.mit.edu	37	2	61258581	61258581	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr2:61258581G>A	ENST00000295030.5	+	2	158	c.120G>A	c.(118-120)atG>atA	p.M40I	PEX13_ENST00000472678.1_3'UTR	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13						cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			CTACTTTAATGACAAGACCTG	0.388000													13	58					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065639	55065639	+	RNA	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:55065639C>A	ENST00000526016.1	-	0	69					NR_038174.2																						GAAACAGGGCCGGCAAAAGCT	0.493000													3	61					0.00024832	0.00025454	1	1	0
ERBB3	2065	broad.mit.edu	37	12	56492623	56492623	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr12:56492623G>C	ENST00000267101.3	+	23	3213	c.2773G>C	c.(2773-2775)Gag>Cag	p.E925Q	ERBB3_ENST00000553131.1_Missense_Mutation_p.E166Q|ERBB3_ENST00000415288.2_Missense_Mutation_p.E866Q|ERBB3_ENST00000549832.1_Missense_Mutation_p.E45Q|ERBB3_ENST00000450146.2_Missense_Mutation_p.E282Q	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	925	Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGACCTGCTAGAGAAGGGGGA	0.527000													64	59					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932916	83932916	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr15:83932916C>T	ENST00000345382.2	-	4	1172	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	BNC1_ENST00000569704.1_Missense_Mutation_p.E356K|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	363					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AAGGTCTTCTCACATGCAGTG	0.478000													21	82					0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89319308	89319308	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr4:89319308C>T	ENST00000380265.5	+	8	1222	c.1039C>T	c.(1039-1041)Caa>Taa	p.Q347*	HERC6_ENST00000264346.7_Nonsense_Mutation_p.Q347*	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	347					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CGTGGATGTTCAAGTCAAACA	0.289000													4	7					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71800853	71800853	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:71800853C>T	ENST00000373545.3	-	32	3983	c.3545G>A	c.(3544-3546)tGa>tAa	p.*1182*	PHKA1_ENST00000541944.1_Silent_p.*1152*|PHKA1_ENST00000373539.3_Silent_p.*1241*|PHKA1_ENST00000373542.4_Silent_p.*1224*|PHKA1_ENST00000339490.3_Silent_p.*1211*			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	0					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CCAAAGCCCTCATTGCATGGC	0.552000													11	15					0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91136983	91136983	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr15:91136983G>A	ENST00000420329.2	+	3	494	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	CRTC3_ENST00000560098.1_Intron|CRTC3_ENST00000268184.6_Missense_Mutation_p.R116Q|CRTC3_ENST00000558619.1_3'UTR	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	116					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AAGCCAGGGCGACAAATATCC	0.507000			T	MAML2	salivary gland mucoepidermoid								13	56					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36856592	36856592	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr20:36856592T>A	ENST00000279024.4	-	6	2193	c.1922A>T	c.(1921-1923)cAg>cTg	p.Q641L		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	641										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTGTGGGGGCTGTCTCCTGGC	0.627000													12	53					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42507504	42507504	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr19:42507504T>A	ENST00000262895.3	-	18	2493	c.2494A>T	c.(2494-2496)Agg>Tgg	p.R832W	GRIK5_ENST00000301218.4_Missense_Mutation_p.R832W|GRIK5_ENST00000593562.1_Missense_Mutation_p.R832W	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	832						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)	TCAGCTGACCTCCGTGTGGAC	0.577000													28	54					0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73832148	73832148	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:73832148C>G	ENST00000207549.4	-	17	1868	c.1489G>C	c.(1489-1491)Gat>Cat	p.D497H	UNC13D_ENST00000412096.2_Missense_Mutation_p.D497H	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	497	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCAATGACATCCTGTACCAGG	0.637000									Familial Hemophagocytic Lymphohistiocytosis				20	135					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139833536	139833536	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr8:139833536T>C	ENST00000303045.6	-	7	1534	c.1088A>G	c.(1087-1089)gAc>gGc	p.D363G	COL22A1_ENST00000435777.1_Missense_Mutation_p.D363G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	363	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTGTGCCAGTCCCGGTCAAA	0.562000										HNSCC(7;0.00092)			25	77					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197112897	197112897	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:197112897G>C	ENST00000367409.4	-	3	741	c.485C>G	c.(484-486)tCt>tGt	p.S162C	ASPM_ENST00000294732.7_Missense_Mutation_p.S162C	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	162					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTGACTTGTAGAGGCTGAAAT	0.318000													6	56					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22804538	22804538	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr21:22804538C>T	ENST00000400546.1	+	12	1840	c.1591C>T	c.(1591-1593)Cag>Tag	p.Q531*	NCAM2_ENST00000284894.7_Nonsense_Mutation_p.Q389*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	531	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TCATCACTATCAGGTGGATGT	0.443000													17	53					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509204	71509204	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:71509204A>T	ENST00000396073.3	+	9	2342	c.2061A>T	c.(2059-2061)gaA>gaT	p.E687D	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	687					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GGCACTATGAAGGTGAACAAT	0.403000													14	86					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227216691	227216691	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:227216691G>C	ENST00000366769.3	-	29	5285	c.3994C>G	c.(3994-3996)Cag>Gag	p.Q1332E	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.Q1345E|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.Q1367E|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.Q1312E|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.Q1304E|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.Q1332E|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.Q1251E	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1345	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GTCTTGCTCTGAAATAGTTCA	0.448000													15	47					0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49087643	49087643	+	Silent	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr12:49087643G>A	ENST00000261900.3	-	9	1576	c.1354C>T	c.(1354-1356)Ctg>Ttg	p.L452L		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	452					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GCCTTTTCCAGAAAAGGCCGC	0.443000													25	90					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39876511	39876511	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:39876511G>A	ENST00000530275.1	+	1	361	c.166G>A	c.(166-168)Gta>Ata	p.V56I	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	56	13 X 13 AA approximate tandem repeat of P-T-S-P-A-A-A-V-P-T-P-E-E.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTCAGAGTCAGTAACTCTGGA	0.438000													17	52					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21242618	21242618	+	Silent	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:21242618G>A	ENST00000233242.1	-	19	3103	c.2976C>T	c.(2974-2976)taC>taT	p.Y992Y		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	992					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCAGCGGATAGTAGGAGGCGG	0.547000													10	31					0	0	1	0	0
AMER2	219287	broad.mit.edu	37	13	25744991	25744991	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr13:25744991G>T	ENST00000357816.2	-	2	1242	c.767C>A	c.(766-768)cCg>cAg	p.P256Q	AMER2_ENST00000515384.1_Missense_Mutation_p.P256Q|AMER2_ENST00000381853.3_Missense_Mutation_p.P256Q					APC membrane recruitment protein 2																		TGGGTCTCGCGGGGCGTCCTG	0.761000													5	13					0.0381472	0.038218	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103343587	103343587	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:103343587A>G	ENST00000358392.2	-	67	5762	c.5445T>C	c.(5443-5445)tgT>tgC	p.C1815C	COL11A1_ENST00000353414.4_Silent_p.C1764C|COL11A1_ENST00000512756.1_Silent_p.C1687C|COL11A1_ENST00000370096.3_Silent_p.C1803C	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1803					collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGCCAAGAAAACAAACAGGAC	0.358000													5	72					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17831762	17831762	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:17831762G>T	ENST00000324096.4	+	2	287	c.136G>T	c.(136-138)Gtc>Ttc	p.V46F	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.V20F	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	46	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GTCTTGGGATGTCGATCCTGG	0.577000													6	226					0.27861	0.27861	1	1	0
AKAP6	9472	broad.mit.edu	37	14	33015330	33015330	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr14:33015330G>A	ENST00000280979.4	+	4	1641	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	AKAP6_ENST00000557354.1_Missense_Mutation_p.E491K|AKAP6_ENST00000557272.1_Missense_Mutation_p.E491K	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	491					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGCTATAAAGAGAAATCTCG	0.438000													39	196					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21345947	21345947	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr22:21345947C>T	ENST00000215739.8	+	9	1181	c.822C>T	c.(820-822)ctC>ctT	p.L274L	LZTR1_ENST00000389355.3_Silent_p.L255L|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	274					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AACACCTGCTCCGGGGCTCCC	0.657000													32	18					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16918496	16918496	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:16918496T>C	ENST00000524140.2	+	18	4254	c.3836T>C	c.(3835-3837)gTc>gCc	p.V1279A	NWD1_ENST00000339803.6_Missense_Mutation_p.V1144A|NWD1_ENST00000379808.3_Missense_Mutation_p.V1279A|NWD1_ENST00000523826.1_Missense_Mutation_p.V1073A|NWD1_ENST00000552788.1_Missense_Mutation_p.V1279A|NWD1_ENST00000549814.1_Missense_Mutation_p.V1237A	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1279							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCGGGGGTCGTCCTTGTGTTC	0.587000													13	78					0	0	1	0	0
CRLS1	54675	broad.mit.edu	37	20	6015166	6015166	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr20:6015166C>T	ENST00000378863.4	+	6	943	c.786C>T	c.(784-786)ttC>ttT	p.F262F	CRLS1_ENST00000378868.4_Silent_p.F163F|CRLS1_ENST00000452938.1_3'UTR|CRLS1_ENST00000464921.1_3'UTR	NM_019095.4	NP_061968.1	Q9UJA2	CRLS1_HUMAN	cardiolipin synthase 1	262					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphotransferase activity, for other substituted phosphate groups			lung(3)|ovary(1)	4						CTCCAGTTTTCAACTATGCTG	0.373000													10	56					0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48033789	48033789	+	Splice_Site	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:48033789C>T	ENST00000234420.5	+	9	4152	c.4000C>T	c.(4000-4002)Cgg>Tgg	p.R1334W	MSH6_ENST00000540021.1_Splice_Site_p.R1204W|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Splice_Site_p.R1032W	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACGATTATTTCGGTAACTAAC	0.338000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				10	34					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60508157	60508157	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr20:60508157A>C	ENST00000360469.5	+	14	2442	c.2354A>C	c.(2353-2355)gAg>gCg	p.E785A	CDH4_ENST00000543233.1_Missense_Mutation_p.E711A	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	785					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AAGTATGACGAGGAAGGCGGT	0.632000													14	73					0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116057124	116057124	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr10:116057124T>A	ENST00000369271.3	-	17	2462	c.2162A>T	c.(2161-2163)gAg>gTg	p.E721V	AFAP1L2_ENST00000304129.4_Missense_Mutation_p.E721V|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.E774V	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	721					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CCGGCACTCCTCGTCAATTTC	0.582000													12	17					0	0	1	0	0
HMGCS1	3157	broad.mit.edu	37	5	43297193	43297193	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr5:43297193T>A	ENST00000325110.6	-	5	856	c.650A>T	c.(649-651)gAt>gTt	p.D217V	HMGCS1_ENST00000433297.2_Missense_Mutation_p.D217V	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	217					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						GAGTTTTCCATCTACTATAGG	0.413000													62	97					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70667772	70667772	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr8:70667772T>C	ENST00000260126.4	-	4	1851	c.1145A>G	c.(1144-1146)aAa>aGa	p.K382R	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.K382R|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.K382R	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1		Poly-Lys.					integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGAAAATTTTTTCTTTTTCTT	0.373000													13	52					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26722394	26722394	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr8:26722394C>T	ENST00000380573.3	-	2	1116	c.93G>A	c.(91-93)gtG>gtA	p.V31V	ADRA1A_ENST00000380587.1_Silent_p.V31V|ADRA1A_ENST00000380581.2_Silent_p.V31V|ADRA1A_ENST00000519229.1_Silent_p.V31V|ADRA1A_ENST00000380582.3_Silent_p.V31V|ADRA1A_ENST00000380572.3_Silent_p.V31V|ADRA1A_ENST00000354550.4_Silent_p.V31V|ADRA1A_ENST00000358857.5_Silent_p.V31V|ADRA1A_ENST00000380586.1_Silent_p.V31V|ADRA1A_ENST00000276393.4_Silent_p.V31V			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	31					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CCCCCAAGATCACCCCGAGCA	0.572000													102	189					0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45987830	45987830	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr21:45987830T>C	ENST00000323084.4	-	2	207	c.142A>G	c.(142-144)Atc>Gtc	p.I48V	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	48					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ACTATCCTGATCCCGCTTGTG	0.607000													28	63					0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5604869	5604869	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:5604869C>T	ENST00000252542.4	-	10	1639	c.1375G>A	c.(1375-1377)Gac>Aac	p.D459N	SAFB2_ENST00000591310.1_5'UTR	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	459	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GTCGCCTCGTCAGATGTCGAC	0.547000													6	33					0	0	1	0	0
UPRT	139596	broad.mit.edu	37	X	74519605	74519605	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:74519605C>G	ENST00000373379.1	+	5	763	c.598C>G	c.(598-600)Cga>Gga	p.R200G	UPRT_ENST00000373383.4_Missense_Mutation_p.R200G|UPRT_ENST00000530743.1_Missense_Mutation_p.R64G			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	200					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						AGACTGCTGTCGATCCATACG	0.418000													16	88					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37154575	37154575	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr20:37154575C>T	ENST00000262879.6	+	13	2224	c.1940C>T	c.(1939-1941)tCt>tTt	p.S647F	RALGAPB_ENST00000397038.1_Missense_Mutation_p.S425F|RALGAPB_ENST00000397042.3_Missense_Mutation_p.S647F|RALGAPB_ENST00000397040.1_Missense_Mutation_p.S647F			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	647					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GATGACAGCTCTTCTTATGAT	0.393000													19	109					0	0	1	0	0
RIBC2	26150	broad.mit.edu	37	22	45813510	45813510	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr22:45813510C>T	ENST00000342894.3	+	3	435	c.21C>T	c.(19-21)atC>atT	p.I7I	RIBC2_ENST00000538017.1_Silent_p.I75I			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	7										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATGACAAAATCATGTGCATAT	0.378000													17	44					0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147560545	147560545	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:147560545G>A	ENST00000281321.3	+	1	501	c.253G>A	c.(253-255)Gag>Aag	p.E85K		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	85					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					cgggggcTCGGAGGCTATGCG	0.667000													5	32					0	0	1	0	0
TNNC1	7134	broad.mit.edu	37	3	52485797	52485797	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr3:52485797C>G	ENST00000232975.3	-	4	334	c.280G>C	c.(280-282)Gag>Cag	p.E94Q		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	94	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	AGCTCCTCCTCAGATTTCCCT	0.582000													25	64					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123444796	123444796	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr3:123444796A>T	ENST00000360772.3	-	13	2024	c.1646T>A	c.(1645-1647)cTg>cAg	p.L549Q	MYLK_ENST00000475616.1_Missense_Mutation_p.L549Q|MYLK_ENST00000360304.3_Missense_Mutation_p.L549Q|MYLK_ENST00000359169.1_Missense_Mutation_p.L549Q|MYLK_ENST00000346322.5_Missense_Mutation_p.L480Q			Q15746	MYLK_HUMAN	myosin light chain kinase	549	Ig-like C2-type 4.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTCACCATTCAGCAGCCAAGT	0.587000													17	64					0	0	1	0	0
GSTA5	221357	broad.mit.edu	37	6	52696763	52696763	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr6:52696763C>T	ENST00000370989.2	-	6	581	c.552G>A	c.(550-552)ctG>ctA	p.L184L	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Silent_p.L184L			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5		GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TTCTGGTTTTCAGGGCCTGTA	0.522000													26	52					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83933235	83933235	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr15:83933235C>T	ENST00000345382.2	-	4	853	c.768G>A	c.(766-768)ctG>ctA	p.L256L	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.L249L	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	256					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ATGACCCTATCAGTGCAGGAG	0.502000													9	48					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145633195	145633195	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:145633195T>C	ENST00000296575.3	+	8	2050	c.1395T>C	c.(1393-1395)atT>atC	p.I465I		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	465						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CAGCCAGAATTCTACAGATAA	0.333000													17	87					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32754759	32754759	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:32754759A>G	ENST00000421745.2	+	60	12096	c.11962A>G	c.(11962-11964)Act>Gct	p.T3988A		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3988					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCAGCTTTTAACTCTCCTATA	0.388000													8	105					0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24681365	24681365	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr7:24681365G>C	ENST00000222644.5	+	3	398	c.148G>C	c.(148-150)Gaa>Caa	p.E50Q	MPP6_ENST00000409761.1_5'UTR|MPP6_ENST00000396475.2_Missense_Mutation_p.E50Q			Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)		L27 2.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TTCCAAACTAGAAGCTGTCAG	0.333000													18	78					0	0	1	0	0
TICAM1	148022	broad.mit.edu	37	19	4817198	4817198	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:4817198C>G	ENST00000248244.5	-	2	1421	c.1192G>C	c.(1192-1194)Gtg>Ctg	p.V398L		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	398	TIR.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGGAGGATCACAAAGTTATAG	0.577000													10	56					0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63978239	63978239	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:63978239A>G	ENST00000279227.5	+	3	412	c.317A>G	c.(316-318)aAc>aGc	p.N106S	FERMT3_ENST00000345728.5_Missense_Mutation_p.N106S	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	106					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CGGTTGCCCAACCGCCGCGCA	0.667000													26	238					0	0	1	0	0
ATG4D	84971	broad.mit.edu	37	19	10663608	10663608	+	Silent	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:10663608G>T	ENST00000309469.4	+	10	1463	c.1290G>T	c.(1288-1290)ctG>ctT	p.L430L	ATG4D_ENST00000540862.1_Silent_p.L97L	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	430					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGTTCACCCTGGCCGAGGGCC	0.662000													36	90					6.19805e-25	6.69389e-25	1	1	0
NKX2-1	7080	broad.mit.edu	37	14	36988561	36988561	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr14:36988561A>G	ENST00000354822.5	-	2	190	c.92T>C	c.(91-93)aTg>aCg	p.M31T	NKX2-1_ENST00000498187.2_Start_Codon_SNP_p.M1T|NKX2-1_ENST00000518149.1_Start_Codon_SNP_p.M1T|NKX2-1_ENST00000522719.2_Start_Codon_SNP_p.M1T|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1-AS1_ENST00000521292.2_RNA	NM_001079668.2	NP_001073136.1	P43699	NKX21_HUMAN	NK2 homeobox 1	1					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		ACTCATCGACATGATTCGGCG	0.542000			A		NSCLC								18	18					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838378	16838378	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:16838378G>A	ENST00000355661.3	-	11	1845	c.1835C>T	c.(1834-1836)tCt>tTt	p.S612F	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.S612F|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.S612F|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	612	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CCTCCTTGGAGAATCCCCCAG	0.642000													25	96					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58975416	58975416	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr14:58975416G>C	ENST00000423743.3	+	29	4438	c.4180G>C	c.(4180-4182)Gat>Cat	p.D1394H	KIAA0586_ENST00000556134.1_Missense_Mutation_p.D1423H|KIAA0586_ENST00000261244.5_Missense_Mutation_p.D1362H|KIAA0586_ENST00000354386.6_Missense_Mutation_p.D1491H|KIAA0586_ENST00000538571.2_3'UTR	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	1362										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCCGCTGAAGATTTTTCCCA	0.413000													7	9					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46967521	46967521	+	Nonsense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr10:46967521T>A	ENST00000374323.4	-	3	1302	c.715A>T	c.(715-717)Aag>Tag	p.K239*	SYT15_ENST00000503753.1_Nonsense_Mutation_p.K186*|SYT15_ENST00000374321.4_Nonsense_Mutation_p.K186*|SYT15_ENST00000374325.3_Nonsense_Mutation_p.K186*			Q9BQS2	SYT15_HUMAN	synaptotagmin XV		C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						AGGTAGAGCTTCACCAGGGGG	0.587000													16	76					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656094	167656094	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:167656094T>A	ENST00000357154.3	-	12	1426	c.1289A>T	c.(1288-1290)gAt>gTt	p.D430V	SPOCK3_ENST00000510741.1_Missense_Mutation_p.D387V|SPOCK3_ENST00000511531.1_Missense_Mutation_p.D430V|SPOCK3_ENST00000512681.1_Missense_Mutation_p.D332V|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000504953.1_Missense_Mutation_p.D427V|SPOCK3_ENST00000506886.1_Missense_Mutation_p.D430V|SPOCK3_ENST00000502330.1_Missense_Mutation_p.D430V|SPOCK3_ENST00000541354.1_Missense_Mutation_p.D310V|SPOCK3_ENST00000421836.2_Missense_Mutation_p.D379V|SPOCK3_ENST00000357545.4_Missense_Mutation_p.D427V|SPOCK3_ENST00000534949.1_Missense_Mutation_p.D334V|SPOCK3_ENST00000541637.1_Missense_Mutation_p.D332V|SPOCK3_ENST00000511269.1_Missense_Mutation_p.D427V|SPOCK3_ENST00000535728.1_Missense_Mutation_p.D298V	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	430	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		atcatggtcatcaccaccatc	0.308000													7	40					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160659	132160659	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:132160659A>G	ENST00000511190.1	-	6	2059	c.1590T>C	c.(1588-1590)tgT>tgC	p.C530C	USP26_ENST00000370832.1_Silent_p.C530C|USP26_ENST00000406273.1_Silent_p.C530C	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	530					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCTTTAATGCACAAAACTCAT	0.418000													25	194					0	0	1	0	0
IPMK	253430	broad.mit.edu	37	10	59956279	59956279	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr10:59956279T>C	ENST00000373935.3	-	6	1131	c.809A>G	c.(808-810)gAc>gGc	p.D270G		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	270						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						CAAAGTTCTGTCATTCAATTT	0.363000													9	29					0	0	1	0	0
RPA1	6117	broad.mit.edu	37	17	1795168	1795168	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:1795168T>C	ENST00000254719.5	+	15	1703	c.1593T>C	c.(1591-1593)tgT>tgC	p.C531C		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	531					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						GGGTGACTTGTTTCCAGGAGT	0.333000								Nucleotide excision repair (NER)					33	76					0	0	1	0	0
NMD3	51068	broad.mit.edu	37	3	160960364	160960364	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr3:160960364G>C	ENST00000460469.1	+	10	1395	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	NMD3_ENST00000472947.1_Missense_Mutation_p.E314Q|NMD3_ENST00000351193.2_Missense_Mutation_p.E314Q			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	314					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CAAACAGCTAGAGGAGTTTAT	0.403000													15	75					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10477149	10477149	+	Silent	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:10477149G>C	ENST00000525621.1	-	6	1054	c.573C>G	c.(571-573)ctC>ctG	p.L191L	TYK2_ENST00000264818.6_Silent_p.L191L|TYK2_ENST00000529370.1_Silent_p.L191L|TYK2_ENST00000524462.1_Silent_p.L6L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	191	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CGAGGTGACAGAGGTGCAGAA	0.582000													30	108					0	0	1	0	0
ARNTL	406	broad.mit.edu	37	11	13380068	13380068	+	Silent	SNP	C	C	T	rs138340325	byFrequency	TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:13380068C>T	ENST00000389708.3	+	8	664	c.309C>T	c.(307-309)aaC>aaT	p.N103N	ARNTL_ENST00000396441.3_Silent_p.N103N|ARNTL_ENST00000389707.4_Silent_p.N103N|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000401424.1_Silent_p.N60N|ARNTL_ENST00000361003.4_Silent_p.N103N|ARNTL_ENST00000403290.1_Silent_p.N103N|ARNTL_ENST00000403510.3_Silent_p.N60N|ARNTL_ENST00000403482.3_Silent_p.N101N			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	103	Helix-loop-helix motif.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		CAACATGCAACGCAATGTCCA	0.413000													65	196					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2125869	2125869	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr16:2125869C>T	ENST00000219476.3	+	23	3245	c.2615C>T	c.(2614-2616)tCc>tTc	p.S872F	TSC2_ENST00000353929.4_Missense_Mutation_p.S872F|TSC2_ENST00000439673.2_Missense_Mutation_p.S835F|TSC2_ENST00000382538.6_Missense_Mutation_p.S823F|TSC2_ENST00000568454.1_Missense_Mutation_p.S883F|TSC2_ENST00000401874.2_Missense_Mutation_p.S872F|TSC2_ENST00000350773.4_Missense_Mutation_p.S872F	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	872					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TTCGCCATCTCCCTGCCGTAC	0.672000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				13	37					0	0	1	0	0
C11orf85	283129	broad.mit.edu	37	11	64707138	64707138	+	Silent	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:64707138G>A	ENST00000536065.1	-	11	1698	c.394C>T	c.(394-396)Cta>Tta	p.L132L	C11orf85_ENST00000432175.1_Silent_p.F216F|C11orf85_ENST00000301896.5_Silent_p.F216F|C11orf85_ENST00000530444.1_Silent_p.L160L			Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	0										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						TCTTACCTTAGAAACCCAAAG	0.522000													26	73					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46307620	46307620	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:46307620T>C	ENST00000510861.1	-	7	841	c.668A>G	c.(667-669)cAa>cGa	p.Q223R	GABRA2_ENST00000515082.1_Missense_Mutation_p.Q223R|GABRA2_ENST00000540012.1_Missense_Mutation_p.Q168R|GABRA2_ENST00000381620.4_Missense_Mutation_p.Q223R|GABRA2_ENST00000507069.1_Missense_Mutation_p.Q223R|GABRA2_ENST00000356504.1_Missense_Mutation_p.Q223R|GABRA2_ENST00000514090.1_Missense_Mutation_p.Q223R			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	223					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCCGATTGATTGGCCCAGCAG	0.373000													19	55					0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158151855	158151855	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:158151855A>C	ENST00000368171.3	+	4	861	c.362A>C	c.(361-363)gAg>gCg	p.E121A		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	121					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GCTGGCTGTGAGGTGCACCCT	0.473000													34	209					0	0	1	0	0
ELF1	1997	broad.mit.edu	37	13	41507750	41507750	+	Silent	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr13:41507750G>A	ENST00000239882.3	-	9	1985	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Silent_p.I533I	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	557					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CTTGAGTTTTGATAACTGAAG	0.458000													41	71					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53835318	53835318	+	Silent	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr3:53835318C>G	ENST00000288139.4	+	43	5452	c.5334C>G	c.(5332-5334)ctC>ctG	p.L1778L	CACNA1D_ENST00000544977.1_Silent_p.L137L|CACNA1D_ENST00000422281.2_Silent_p.L1743L|CACNA1D_ENST00000350061.5_Silent_p.L1758L	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ATGCCAATCTCAATAATGCCA	0.458000													17	49					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96293688	96293688	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr13:96293688T>C	ENST00000347108.3	-	3	890	c.458A>G	c.(457-459)cAc>cGc	p.H153R	DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000376829.2_Missense_Mutation_p.H153R|DZIP1_ENST00000361156.3_Missense_Mutation_p.H153R|DZIP1_ENST00000361396.2_Missense_Mutation_p.H153R			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	153					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GCCGTCGCAGTGGCTCAGGCG	0.602000													9	51					0	0	1	0	0
BEX1	55859	broad.mit.edu	37	X	102317904	102317904	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:102317904T>G	ENST00000372728.3	-	3	538	c.299A>C	c.(298-300)cAg>cCg	p.Q100P		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	100				Q -> R (in Ref. 4; BAF83647).	cell differentiation|nervous system development	cytoplasm|nucleus				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						ATGACTCAACTGCTTTTCCCT	0.498000													27	220					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11398900	11398900	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:11398900T>A	ENST00000227756.4	-	5	1217	c.806A>T	c.(805-807)aAg>aTg	p.K269M		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		CCGGTTCTCCTTGATGCGGGT	0.512000													19	51					0	0	1	0	0
MORC4	79710	broad.mit.edu	37	X	106186173	106186173	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:106186173T>C	ENST00000355610.4	-	15	2222	c.1948A>G	c.(1948-1950)Aaa>Gaa	p.K650E	MORC4_ENST00000255495.7_Missense_Mutation_p.K650E|MORC4_ENST00000535534.1_Missense_Mutation_p.K398E	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	650							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						CGTTGGTCTTTGGCCCCTGGA	0.458000													37	177					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70824256	70824256	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:70824256G>A	ENST00000373695.1	+	7	1666	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	ACRC_ENST00000373696.3_Missense_Mutation_p.E377K			Q96QF7	ACRC_HUMAN	acidic repeat containing	377						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGATCTTGGTGAGAATCTCAG	0.502000													5	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179642657	179642657	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:179642657A>G	ENST00000589042.1	-	25	4478	c.4254T>C	c.(4252-4254)tcT>tcC	p.S1418S	TTN_ENST00000359218.5_Silent_p.S1372S|TTN_ENST00000460472.2_Silent_p.S1372S|TTN_ENST00000591111.1_Silent_p.S1418S|TTN_ENST00000342992.6_Silent_p.S1418S|TTN_ENST00000360870.5_Silent_p.S1418S|TTN_ENST00000342175.6_Silent_p.S1372S|RP11-88L24.4_ENST00000582038.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1418	ZIS5.						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)			TCCGTGCAGGAGACATGCGTA	0.498000													15	35					0	0	1	0	0
ATP6V1E1	529	broad.mit.edu	37	22	18102253	18102253	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr22:18102253C>T	ENST00000253413.5	-	2	255	c.73G>A	c.(73-75)Gag>Aag	p.E25K	ATP6V1E1_ENST00000399798.2_Intron|ATP6V1E1_ENST00000478963.1_5'UTR|ATP6V1E1_ENST00000399796.2_Missense_Mutation_p.E25K	NM_001696.3	NP_001687.1	P36543	VATE1_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1	25					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	10		all_epithelial(15;0.206)		Lung(27;0.19)		TCTGCTTTCTCATTGGCTTCT	0.269000													4	11					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31463386	31463386	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr18:31463386A>G	ENST00000261592.5	-	10	1842	c.1545T>C	c.(1543-1545)gaT>gaC	p.D515D	NOL4_ENST00000538587.1_Silent_p.D441D|NOL4_ENST00000269185.4_Silent_p.D299D|NOL4_ENST00000535384.1_Silent_p.D230D|NOL4_ENST00000535475.1_Silent_p.D296D|NOL4_ENST00000589544.1_Silent_p.D413D	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	515						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GAGCAGACTCATCCTGCAAGG	0.453000													14	58					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17039806	17039806	+	Silent	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:17039806G>C	ENST00000443236.1	-	24	3262	c.3231C>G	c.(3229-3231)ctC>ctG	p.L1077L		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1030						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CATCCCAGGAGAGGATCTTGG	0.567000													10	18					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8100664	8100664	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr10:8100664C>T	ENST00000379328.3	+	3	1206	c.638C>T	c.(637-639)tCg>tTg	p.S213L	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.S213L	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	213					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GGAGCCTCCTCGTCGACCCAC	0.682000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						38	127					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73812516	73812516	+	Nonsense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:73812516T>A	ENST00000332687.6	-	4	852	c.634A>T	c.(634-636)Aga>Tga	p.R212*	RLIM_ENST00000349225.2_Nonsense_Mutation_p.R212*	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	212					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCTGCTTCTTGCCCTCCTC	0.493000													21	140					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271342	59271342	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:59271342G>A	ENST00000313253.1	+	1	294	c.294G>A	c.(292-294)atG>atA	p.M98I		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CAAGCTGCATGACACAGATAT	0.473000													65	144					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676734	100676734	+	Silent	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr7:100676734A>T	ENST00000306151.4	+	3	2101	c.2037A>T	c.(2035-2037)ccA>ccT	p.P679P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	679	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGCATGCCAACCTCAACTT	0.488000													92	507					0	0	1	0	0
ZNF143	7702	broad.mit.edu	37	11	9499976	9499976	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:9499976A>G	ENST00000396602.2	+	6	532	c.413A>G	c.(412-414)gAa>gGa	p.E138G	ZNF143_ENST00000396604.1_Missense_Mutation_p.E137G|ZNF143_ENST00000396597.3_Missense_Mutation_p.E107G|ZNF143_ENST00000530463.1_Missense_Mutation_p.E137G|ZNF143_ENST00000299606.2_Missense_Mutation_p.E110G	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	138					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GTTCAGCTGGAAGATGGTACC	0.448000													26	110					0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66099832	66099832	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:66099832G>C	ENST00000311320.4	-	10	2393	c.2267C>G	c.(2266-2268)gCt>gGt	p.A756G	RIN1_ENST00000424433.2_Intron|RIN1_ENST00000530056.1_Missense_Mutation_p.A590G	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	756					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GCCCCCTTCAGCAGTTGTCTC	0.632000													66	188					0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327347	52327347	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:52327347A>G	ENST00000339223.4	+	2	525	c.346A>G	c.(346-348)Atc>Gtc	p.I116V	FPR3_ENST00000595991.1_Missense_Mutation_p.I116V	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	116					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TGTCTACCTGATCACCATCAT	0.493000													24	78					0	0	1	0	0
FERD3L	222894	broad.mit.edu	37	7	19184714	19184714	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr7:19184714C>A	ENST00000275461.3	-	1	330	c.272G>T	c.(271-273)cGc>cTc	p.R91L	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	91					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CCTCTTGGGGCGGCCTAATAG	0.607000													13	26					4.3838e-07	4.55241e-07	1	1	0
SLC1A6	6511	broad.mit.edu	37	19	15079206	15079206	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:15079206T>A	ENST00000598504.1	-	6	1816	c.457A>T	c.(457-459)Atc>Ttc	p.I153F	SLC1A6_ENST00000221742.3_Missense_Mutation_p.I153F|SLC1A6_ENST00000544886.2_Missense_Mutation_p.I153F|SLC1A6_ENST00000600144.1_Missense_Mutation_p.I153F|SLC1A6_ENST00000430939.2_Intron	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	153					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CCGGGATGGATGATGGTGACC	0.617000													6	16					0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118771612	118771612	+	Missense_Mutation	SNP	G	G	A	rs139195814		TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:118771612G>A	ENST00000334801.3	-	6	3804	c.2840C>T	c.(2839-2841)tCg>tTg	p.S947L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	947	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	p.S947L(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGCAGAGGGCGAGGTGACCAG	0.622000													35	67					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28789684	28789684	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:28789684C>G	ENST00000422425.2	+	20	1379	c.1335C>G	c.(1333-1335)atC>atG	p.I445M	PLB1_ENST00000327757.5_Missense_Mutation_p.I434M|PLB1_ENST00000329020.6_Missense_Mutation_p.I122M	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	434	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ATGAGAACATCGGCACCGTTA	0.622000											OREG0014523	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	155					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7059796	7059796	+	Splice_Site	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:7059796G>C	ENST00000299481.4	+	2	325		c.e2-1			NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14						cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TCCCCCCACAGAGGCCTGAAT	0.338000													13	73					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131795950	131795950	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr8:131795950A>G	ENST00000286355.5	-	17	5347	c.3255T>C	c.(3253-3255)ttT>ttC	p.F1085F	ADCY8_ENST00000377928.3_Silent_p.F954F	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1085					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCCGGAGTTCAAAATTGTTGA	0.512000										HNSCC(32;0.087)			19	51					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107408248	107408248	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:107408248G>T	ENST00000334504.7	-	39	4062	c.3829C>A	c.(3829-3831)Ccc>Acc	p.P1277T	COL4A6_ENST00000372216.4_Missense_Mutation_p.P1278T|COL4A6_ENST00000545689.1_Missense_Mutation_p.P1253T|COL4A6_ENST00000394872.2_Missense_Mutation_p.P1278T|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1253T	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1278	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGACCTGGGGGTCCAGCGGGG	0.627000									Alport syndrome with Diffuse Leiomyomatosis				20	71					8.10497e-08	8.43292e-08	1	1	0
NUDT9	53343	broad.mit.edu	37	4	88356221	88356221	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:88356221C>T	ENST00000473942.1	+	2	168	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	NUDT9_ENST00000302174.4_Missense_Mutation_p.R66W	NM_198038.2	NP_932155.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	66						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		CAATAAGGCTCGGACGTCTCC	0.433000													9	40					0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729463	41729463	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr7:41729463T>A	ENST00000242208.4	-	3	1312	c.1066A>T	c.(1066-1068)Agc>Tgc	p.S356C	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.S356C|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	356					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCTATATGGCTCGGGCACTCA	0.532000										TSP Lung(11;0.080)			50	87					0	0	1	0	0
FAM212B	55924	broad.mit.edu	37	1	112281853	112281853	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:112281853C>T	ENST00000357260.5	-	1	193	c.12G>A	c.(10-12)gaG>gaA	p.E4E	FAM212B_ENST00000534365.1_Silent_p.E4E|FAM212B_ENST00000444059.2_Intron	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	4										cervix(1)|endometrium(1)	2						TTTCCCTGCTCTCCATCGTCA	0.672000													8	32					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58275713	58275713	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:58275713C>T	ENST00000300896.4	-	27	3536	c.3342G>A	c.(3340-3342)cgG>cgA	p.R1114R	USP32_ENST00000592339.1_Silent_p.R784R	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1114					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GGTCTTTCTTCCGGGTATGCA	0.478000													40	107					0	0	1	0	0
NTSR2	23620	broad.mit.edu	37	2	11809700	11809700	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:11809700C>T	ENST00000306928.5	-	1	590	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	186					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GGCTCCGGCTCCCCGTCCGCC	0.711000													8	22					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149883409	149883409	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:149883409G>A	ENST00000369146.3	-	3	1236	c.746C>T	c.(745-747)tCa>tTa	p.S249L	SV2A_ENST00000369145.1_Missense_Mutation_p.S249L	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	249					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GACAAAAGATGAGAAGAAGGC	0.577000													27	40					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5105192	5105192	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr7:5105192G>A	ENST00000396912.1	+	5	2624	c.2105G>A	c.(2104-2106)aGa>aAa	p.R702K	RBAK_ENST00000353796.3_Missense_Mutation_p.R702K|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	702	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AGAATTCATAGAAGAGGAAAT	0.368000													46	102					0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678918	130678918	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:130678918C>A	ENST00000338616.3	+	1	969	c.871C>A	c.(871-873)Ctg>Atg	p.L291M		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L291M(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					GATATATAGCCTGAGAAAAAA	0.398000													40	101					3.61848e-18	3.86162e-18	1	1	0
PEMT	10400	broad.mit.edu	37	17	17415891	17415891	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:17415891A>G	ENST00000395781.2	-	4	479	c.398T>C	c.(397-399)cTc>cCc	p.L133P	PEMT_ENST00000435340.2_Missense_Mutation_p.L111P|PEMT_ENST00000255389.5_Missense_Mutation_p.L133P|PEMT_ENST00000395783.1_Missense_Mutation_p.L96P|PEMT_ENST00000395782.1_Missense_Mutation_p.L96P|PEMT_ENST00000484838.2_5'UTR	NM_001267552.1	NP_001254481.1	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	96					cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		CAGTCCCAGGAGCGCGAGGCC	0.662000													3	19					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215866332	215866332	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:215866332T>A	ENST00000272895.7	-	21	3032	c.2813A>T	c.(2812-2814)gAa>gTa	p.E938V	ABCA12_ENST00000389661.4_Missense_Mutation_p.E620V	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	938					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTCTCCATTTCATCTATGGT	0.388000													51	82					0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750249	142750249	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr7:142750249T>C	ENST00000418316.1	+	1	833	c.812T>C	c.(811-813)gTc>gCc	p.V271A		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GTCAGGAAGGTCGTGGCCTTG	0.502000													30	74					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110804792	110804792	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr13:110804792T>A	ENST00000375820.4	-	51	4938	c.4817A>T	c.(4816-4818)gAg>gTg	p.E1606V		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1606	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCTAAACTCCTCCAGGCAGGA	0.602000													8	22					0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17757672	17757672	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:17757672C>T	ENST00000379472.3	+	1	153	c.123C>T	c.(121-123)gaC>gaT	p.D41D	KCNC1_ENST00000265969.6_Silent_p.D41D	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	41						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CGGAGCCCGACGCCCACAGCC	0.687000													3	41					0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44804047	44804047	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr7:44804047C>T	ENST00000309315.4	+	14	2013	c.1890C>T	c.(1888-1890)ctC>ctT	p.L630L	ZMIZ2_ENST00000433667.1_Silent_p.L598L|ZMIZ2_ENST00000441627.1_Silent_p.L630L|ZMIZ2_ENST00000413916.1_Silent_p.L572L|ZMIZ2_ENST00000265346.7_Silent_p.L604L	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	630					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ACCTGCAGCTCAACTGTGAGC	0.522000													25	53					0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48286133	48286133	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:48286133C>T	ENST00000320048.1	+	1	721	c.721C>T	c.(721-723)Cat>Tat	p.H241Y		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CTGTGCCTCTCATGTCACAGT	0.507000													35	91					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906269	129906269	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr10:129906269C>G	ENST00000368654.3	-	13	4210	c.3835G>C	c.(3835-3837)Gag>Cag	p.E1279Q	MKI67_ENST00000368653.3_Missense_Mutation_p.E919Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1279	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGTTCTCCCTCTACATCTGCT	0.478000													56	135					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990843	39990843	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr20:39990843A>T	ENST00000332312.3	-	4	1558	c.1366T>A	c.(1366-1368)Ttg>Atg	p.L456M		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	456						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CCCATGTCCAACCTCAGACAG	0.637000													50	127					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47266046	47266046	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr20:47266046A>T	ENST00000396220.1	-	25	3119	c.3097T>A	c.(3097-3099)Ttg>Atg	p.L1033M	PREX1_ENST00000371941.3_Missense_Mutation_p.L1033M			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1033					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCAGCAGGCAAGCACTTCCAG	0.617000													5	16					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31792942	31792942	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr14:31792942C>A	ENST00000543095.2	-	24	3800	c.3616G>T	c.(3616-3618)Gtc>Ttc	p.V1206F	HEATR5A_ENST00000439348.1_Missense_Mutation_p.V1200F|HEATR5A_ENST00000439727.1_Missense_Mutation_p.V913F|HEATR5A_ENST00000389961.3_Missense_Mutation_p.V1200F	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1200							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GTGGTCAGGACTGAGGCATCA	0.393000													31	68					1.36161e-19	1.46468e-19	1	1	0
MAGI2	9863	broad.mit.edu	37	7	78256482	78256482	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr7:78256482C>T	ENST00000354212.4	-	3	745	c.492G>A	c.(490-492)atG>atA	p.M164I	MAGI2_ENST00000522391.1_Missense_Mutation_p.M164I|MAGI2_ENST00000536571.1_5'UTR|MAGI2_ENST00000419488.1_Missense_Mutation_p.M164I|MAGI2_ENST00000535697.1_Start_Codon_SNP_p.M1I	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	164	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCTCCAATTCCATAAAATCTT	0.393000													7	61					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3242731	3242731	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:3242731A>G	ENST00000217939.6	-	5	1149	c.995T>C	c.(994-996)tTg>tCg	p.L332S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	332						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCACAGACCAAGTTCACCAT	0.468000													10	22					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142266679	142266679	+	Missense_Mutation	SNP	C	C	T	rs146504354		TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr3:142266679C>T	ENST00000350721.4	-	16	3366	c.3245G>A	c.(3244-3246)cGt>cAt	p.R1082H	ATR_ENST00000383101.3_Missense_Mutation_p.R1018H	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1082					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.R1082H(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTCTCCAATACGCAGCAATAA	0.373000								Other conserved DNA damage response genes					8	59					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171243633	171243633	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:171243633G>T	ENST00000334231.6	+	14	1419	c.1419G>T	c.(1417-1419)ttG>ttT	p.L473F	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.L464F|MYO3B_ENST00000408978.4_Missense_Mutation_p.L464F			Q8WXR4	MYO3B_HUMAN	myosin IIIB	464	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ATCAGACCTTGAGAGAGAAAA	0.473000													7	72					0.00307968	0.00312013	1	1	0
OR8H1	219469	broad.mit.edu	37	11	56057739	56057739	+	Nonsense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:56057739A>T	ENST00000313022.2	-	1	827	c.800T>A	c.(799-801)tTg>tAg	p.L267*		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					ATCCCTTCCCAAAGAATAAGA	0.348000													16	78					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56436334	56436334	+	Splice_Site	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:56436334T>A	ENST00000588751.1	-	2	411	c.387A>T	c.(385-387)gcA>gcT	p.A129A	NLRP13_ENST00000342929.3_Splice_Site_p.A129A			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	129							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGTACACACCTGCTGCTGCTT	0.433000													13	47					0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190921992	190921992	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:190921992A>G	ENST00000260950.4	-	3	1252	c.1120T>C	c.(1120-1122)Tgc>Cgc	p.C374R	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	374					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TCTCATGAGCACCCACAGCGG	0.363000													21	23					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62324281	62324281	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr20:62324281G>A	ENST00000318100.4	+	29	3603	c.2776G>A	c.(2776-2778)Gat>Aat	p.D926N	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.D926N|RTEL1_ENST00000370018.3_Missense_Mutation_p.D926N|RTEL1_ENST00000360203.5_Missense_Mutation_p.D926N|RTEL1_ENST00000370003.1_Missense_Mutation_p.D171N|RTEL1_ENST00000508582.2_Missense_Mutation_p.D950N	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	926					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CAAGGGTTCCGATGACTTCGC	0.632000													80	226					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121432060	121432060	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr12:121432060C>T	ENST00000257555.6	+	4	1033	c.807C>T	c.(805-807)gcC>gcT	p.A269A	HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000541395.1_Silent_p.A269A|HNF1A_ENST00000544413.1_Silent_p.A269A|HNF1A_ENST00000543427.1_Silent_p.A152A|HNF1A_ENST00000400024.2_Silent_p.A269A|HNF1A_ENST00000402929.1_Silent_p.A269A			P20823	HNF1A_HUMAN	HNF1 homeobox A	269					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACTGGTTTGCCAACCGGCGCA	0.662000									Hepatic Adenoma, Familial Clustering of				18	18					0	0	1	0	0
CALCB	797	broad.mit.edu	37	11	15096700	15096700	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:15096700G>A	ENST00000523376.1	+	8	1475	c.213G>A	c.(211-213)atG>atA	p.M71I	CALCB_ENST00000324229.6_Missense_Mutation_p.M60I|CALCB_ENST00000533448.1_Missense_Mutation_p.M60I			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	60					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						ATGTGCAGATGAAGGCCAGTG	0.632000											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	78					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112622403	112622403	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:112622403G>C	ENST00000341068.3	-	8	1583	c.811C>G	c.(811-813)Ctc>Gtc	p.L271V		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	271					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						ACTCTCCGGAGAGTCCACACA	0.423000													13	52					0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39374613	39374613	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr3:39374613A>G	ENST00000326306.4	+	2	929	c.791A>G	c.(790-792)cAc>cGc	p.H264R	CCR8_ENST00000414803.1_3'UTR|CCR8_ENST00000545843.1_Missense_Mutation_p.H181R	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	264					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		ACTTCCTTGCACAGTATGCAC	0.458000													4	43					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32845790	32845790	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:32845790A>T	ENST00000311921.4	+	2	2246	c.2054A>T	c.(2053-2055)gAg>gTg	p.E685V	ZNF507_ENST00000355898.5_Missense_Mutation_p.E685V|ZNF507_ENST00000544431.1_Missense_Mutation_p.E685V	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AAAGATTTGGAGAGTCACATG	0.448000													20	74					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24653001	24653001	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr14:24653001G>C	ENST00000354464.6	-	19	2149	c.1973C>G	c.(1972-1974)tCa>tGa	p.S658*	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	658					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TGAGATCTCTGAGTCATCCTC	0.522000													22	163					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71570252	71570252	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr14:71570252A>T	ENST00000304743.2	+	32	6407	c.5961A>T	c.(5959-5961)caA>caT	p.Q1987H	PCNX_ENST00000238570.5_Missense_Mutation_p.Q1915H|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.Q1876H	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1987						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTTGTGATCAACCTATTGGCT	0.453000													10	99					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21143908	21143908	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:21143908C>T	ENST00000602326.1	-	32	4925	c.4342G>A	c.(4342-4344)Gaa>Aaa	p.E1448K	EIF4G3_ENST00000536266.1_Missense_Mutation_p.E1046K|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E1442K|EIF4G3_ENST00000264211.8_Missense_Mutation_p.E1442K|EIF4G3_ENST00000374935.3_Missense_Mutation_p.E1162K|EIF4G3_ENST00000374937.3_Missense_Mutation_p.E1448K|EIF4G3_ENST00000537738.1_Missense_Mutation_p.E932K	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1442	EIF4A-binding (By similarity).|W2.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AAGATCTGTTCATCATTCGCT	0.433000													21	55					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111786115	111786115	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr12:111786115G>C	ENST00000261726.6	+	22	4601	c.4447G>C	c.(4447-4449)Gag>Cag	p.E1483Q		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1483						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGAGGCCCTGGAGTGGGAGTT	0.567000													20	102					0	0	1	0	0
ALYREF	10189	broad.mit.edu	37	17	79848567	79848567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:79848567G>A	ENST00000331204.4	-	2	393	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	ALYREF_ENST00000505490.2_Nonsense_Mutation_p.Q130*|ALYREF_ENST00000512673.1_5'UTR	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	123	Ala/Arg/Gly-rich.|RRM.				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										TCTCTTACCTGAATATCGGCG	0.587000													13	69					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147733616	147733616	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:147733616T>C	ENST00000370460.2	+	2	623	c.144T>C	c.(142-144)ttT>ttC	p.F48F	AFF2_ENST00000370458.1_Silent_p.F48F|AFF2_ENST00000342251.3_Silent_p.F48F|AFF2_ENST00000370457.5_Silent_p.F48F	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	48					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCAGGCTTTGATCTTTTTG	0.383000													21	167					0	0	1	0	0
GMFB	2764	broad.mit.edu	37	14	54948169	54948169	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr14:54948169G>A	ENST00000358056.3	-	4	426	c.158C>T	c.(157-159)tCa>tTa	p.S53L	GMFB_ENST00000554908.1_Silent_p.F36F|GMFB_ENST00000553566.1_5'UTR	NM_004124.2	NP_004115.1	P60983	GMFB_HUMAN	glia maturation factor, beta	53	ADF-H.				nervous system development|protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)	8						TTCATCTGGTGAAATGCCCTG	0.363000													9	49					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089227	9089227	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:9089227C>T	ENST00000397910.4	-	1	2791	c.2588G>A	c.(2587-2589)gGa>gAa	p.G863E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	863	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTTTCTTCTCCACTAGTAAA	0.478000													10	47					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947968	237947968	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:237947968T>A	ENST00000366574.2	+	90	13273	c.12956T>A	c.(12955-12957)gTc>gAc	p.V4319D	RYR2_ENST00000542537.1_Missense_Mutation_p.V4303D|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.V4325D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4319					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAAGCCTCGTCGAAGGTGCT	0.512000													12	74					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875922	247875922	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:247875922A>G	ENST00000302084.2	-	1	183	c.136T>C	c.(136-138)Ttg>Ctg	p.L46L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACCAACATCAAGATAGCCACA	0.468000													28	181					0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149642008	149642008	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:149642008T>C	ENST00000370401.2	+	5	2284	c.1974T>C	c.(1972-1974)caT>caC	p.H658H	MAMLD1_ENST00000455522.2_Intron|MAMLD1_ENST00000262858.5_Silent_p.H658H|MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000426613.2_Silent_p.H633H			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	658					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCCAGCATCAACACGGGA	0.483000													21	120					0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56586341	56586341	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr18:56586341C>T	ENST00000336078.4	+	4	1598	c.822C>T	c.(820-822)atC>atT	p.I274I	ZNF532_ENST00000589288.1_Silent_p.I274I|ZNF532_ENST00000591083.1_Silent_p.I274I|ZNF532_ENST00000591808.1_Silent_p.I274I|ZNF532_ENST00000591230.1_Silent_p.I274I	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TCGCTGCCATCGCGGCTCTCA	0.547000													29	107					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43328427	43328427	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr15:43328427C>T	ENST00000290650.4	-	19	2217	c.2139G>A	c.(2137-2139)caG>caA	p.Q713Q	UBR1_ENST00000382177.2_Silent_p.Q713Q	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	713					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GTTCATACCTCTGAAGTACCA	0.328000													64	125					0	0	1	0	0
FAM71F2	346653	broad.mit.edu	37	7	128317750	128317750	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr7:128317750C>A	ENST00000480462.1	+	3	604	c.498C>A	c.(496-498)ttC>ttA	p.F166L	FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Intron|FAM71F2_ENST00000378704.3_Missense_Mutation_p.F157L			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	166										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						TGTTTCAATTCTGGGTCCGCT	0.507000													17	53					1.33834e-09	1.40878e-09	1	1	0
FAM155B	27112	broad.mit.edu	37	X	68749658	68749658	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:68749658C>T	ENST00000252338.4	+	3	1320	c.1278C>T	c.(1276-1278)ctC>ctT	p.L426L		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	427						integral to membrane		p.L426L(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GCTCCCGCCTCAGCCCTAGCA	0.627000													8	66					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79030530	79030530	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr5:79030530C>T	ENST00000446378.2	+	2	5973	c.5942C>T	c.(5941-5943)tCt>tTt	p.S1981F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1981						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAAGTTACTCTTCTGAAGAA	0.403000													21	43					0	0	1	0	0
RPS7	6201	broad.mit.edu	37	2	3627712	3627712	+	Silent	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:3627712A>T	ENST00000407445.3	+	6	416	c.369A>T	c.(367-369)acA>acT	p.T123T	RPS7_ENST00000406376.1_Silent_p.T123T|RPS7_ENST00000403564.1_Silent_p.T123T|RPS7_ENST00000304921.5_Silent_p.T123T			P62081	RS7_HUMAN	ribosomal protein S7	123					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		GTACTCTGACAGCTGTGCACG	0.488000													41	127					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102339338	102339338	+	Nonsense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:102339338T>A	ENST00000395065.3	-	3	384	c.283A>T	c.(283-285)Aaa>Taa	p.K95*	NXF3_ENST00000425463.2_Nonsense_Mutation_p.K6*|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	95						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCTGGAGGTTTTTGCTCTCTC	0.473000													32	161					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25373577	25373577	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr13:25373577C>G	ENST00000255324.5	+	12	1496	c.1444C>G	c.(1444-1446)Cga>Gga	p.R482G	RNF17_ENST00000381921.1_Missense_Mutation_p.R482G|RNF17_ENST00000255325.6_Missense_Mutation_p.R482G	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	482					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AATGTGGTGTCGAGGAACTAT	0.328000													7	104					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67652755	67652755	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:67652755G>C	ENST00000355520.5	-	2	749	c.108C>G	c.(106-108)atC>atG	p.I36M	OPHN1_ENST00000540071.1_Missense_Mutation_p.I36M	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	36					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TTACGTCTTTGATGAATTTGT	0.517000													17	44					0	0	1	0	0
TPRX1	284355	broad.mit.edu	37	19	48305214	48305214	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:48305214G>C	ENST00000535759.1	-	4	1344	c.1345C>G	c.(1345-1347)Cac>Gac	p.H449D	TPRX1_ENST00000543508.1_Missense_Mutation_p.H342D|TPRX1_ENST00000322175.3_Missense_Mutation_p.H352D			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	352						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		TCTGTGAAGTGAGGGAATAAC	0.577000													15	119					0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109845605	109845605	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr12:109845605T>A	ENST00000310903.5	+	10	1100	c.994T>A	c.(994-996)Tgc>Agc	p.C332S	MYO1H_ENST00000431443.2_Missense_Mutation_p.C332S|MYO1H_ENST00000542883.1_3'UTR			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TCAGGTGATCTGCCCGTTGAC	0.388000													17	44					0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22313044	22313044	+	Silent	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:22313044C>G	ENST00000337107.6	+	7	682	c.663C>G	c.(661-663)ctC>ctG	p.L221L	CELA3B_ENST00000473526.1_3'UTR	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	221	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GAGGACCCCTCAACTGCCCCA	0.572000													5	75					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28855860	28855860	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:28855860C>T	ENST00000422425.2	+	55	4063	c.4019C>T	c.(4018-4020)tCa>tTa	p.S1340L	PLB1_ENST00000541605.1_Missense_Mutation_p.S316L|PLB1_ENST00000327757.5_Missense_Mutation_p.S1351L	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1351	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TTTCACTTCTCAGACCGCGGG	0.562000													26	108					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57101724	57101724	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr16:57101724G>C	ENST00000436936.1	+	36	4708	c.4483G>C	c.(4483-4485)Gag>Cag	p.E1495Q	NLRC5_ENST00000262510.6_Missense_Mutation_p.E1495Q|NLRC5_ENST00000539144.1_Missense_Mutation_p.E1466Q|NLRC5_ENST00000308149.7_Missense_Mutation_p.E1466Q			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1495					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTCCCTCTCTGAGCTGAAGAC	0.537000													30	62					0	0	1	0	0
PABPC5	140886	broad.mit.edu	37	X	90691592	90691592	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:90691592A>C	ENST00000312600.3	+	2	1230	c.1016A>C	c.(1015-1017)cAa>cCa	p.Q339P	PABPC5_ENST00000373105.1_Missense_Mutation_p.Q175P	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	339	RRM 4.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GAAGTGGGGCAAGGCAAAGGA	0.458000													25	71					0	0	1	0	0
RGS4	5999	broad.mit.edu	37	1	163044180	163044180	+	Nonstop_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:163044180G>C	ENST00000367908.4	+	4	405	c.281G>C	c.(280-282)tGa>tCa	p.*94S	RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367909.6_Missense_Mutation_p.D150H|RGS4_ENST00000367906.3_Missense_Mutation_p.D132H|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000421743.2_Missense_Mutation_p.D247H|RGS4_ENST00000527809.1_Missense_Mutation_p.D132H	NM_001113381.1	NP_001106852.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	0	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						AACCTGCTTTGATGAGGCCCA	0.502000													141	417					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85097545	85097545	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:85097545C>T	ENST00000335459.5	-	2	678	c.473G>A	c.(472-474)gGa>gAa	p.G158E	TRABD2A_ENST00000409133.1_Missense_Mutation_p.G158E|TRABD2A_ENST00000409520.2_Missense_Mutation_p.G158E	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		CTCCCAGTTTCCGGCAATAGC	0.562000													37	122					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161214692	161214692	+	Nonsense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr3:161214692A>T	ENST00000327928.4	+	1	97	c.97A>T	c.(97-99)Aag>Tag	p.K33*		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	33						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CAAATTTACGAAGAAATCTGA	0.408000													5	34					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23907320	23907320	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr13:23907320T>C	ENST00000382298.3	-	10	11283	c.10695A>G	c.(10693-10695)aaA>aaG	p.K3565K	SACS_ENST00000402364.1_Silent_p.K2815K|SACS_ENST00000382292.3_Silent_p.K3565K	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3565					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTTGTTCCAATTTCTTAAAGA	0.308000													6	28					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900638	123900638	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:123900638T>A	ENST00000431524.1	+	1	342	c.309T>A	c.(307-309)ttT>ttA	p.F103L		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCTATTTCTTTCACTTCCTAG	0.537000													13	119					0	0	1	0	0
GOLGA8A	23015	broad.mit.edu	37	15	34673686	34673686	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr15:34673686C>A	ENST00000543376.1	-	23	4063	c.1309G>T	c.(1309-1311)Gag>Tag	p.E437*	GOLGA8A_ENST00000359187.4_Nonsense_Mutation_p.E580*|GOLGA8A_ENST00000432566.2_Nonsense_Mutation_p.E610*|GOLGA8A_ENST00000360553.3_Nonsense_Mutation_p.E580*			A7E2F4	GOG8A_HUMAN	golgin A8 family, member A	608						Golgi cisterna membrane							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CCTGGGTGCTCCTGGTGGTCC	0.582000													9	97					0.00010058	0.000103454	1	1	0
NOTCH2	4853	broad.mit.edu	37	1	120458622	120458622	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:120458622C>G	ENST00000256646.2	-	34	6942	c.6723G>C	c.(6721-6723)ttG>ttC	p.L2241F		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2241					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAGCCTACTCAAGCTTCCAG	0.557000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				20	94					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173734855	173734855	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:173734855G>C	ENST00000506823.1	+	7	1561	c.904G>C	c.(904-906)Gat>Cat	p.D302H	GALNTL6_ENST00000508122.1_Missense_Mutation_p.D285H	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	302						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CCAGAGGGCAGATCCCAGCGA	0.562000													5	41					0	0	1	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25226221	25226221	+	Silent	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr10:25226221T>A	ENST00000320152.6	-	3	259	c.231A>T	c.(229-231)ggA>ggT	p.G77G	PRTFDC1_ENST00000376378.1_Silent_p.G77G|PRTFDC1_ENST00000376376.3_Silent_p.G77G	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	77					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						ATTTGTAACCTCCTTTAAGCA	0.373000													10	105					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210558900	210558900	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:210558900A>G	ENST00000360351.4	+	7	2512	c.2006A>G	c.(2005-2007)gAg>gGg	p.E669G	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E665G	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	669					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GTGTATGGAGAGAAAAGGGAC	0.428000													32	60					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861887	52861887	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:52861887T>C	ENST00000343457.3	-	4	1307	c.1301A>G	c.(1300-1302)cAc>cGc	p.H434R		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	434						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTGTGGTGTGTGCCCCGCAGC	0.552000													17	115					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54424091	54424091	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr18:54424091A>G	ENST00000254442.3	+	15	2478	c.2267A>G	c.(2266-2268)gAa>gGa	p.E756G	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.E756G	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	756										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AACATCAAGGAACACCTCCTT	0.448000													13	36					0	0	1	0	0
HNRNPH2	3188	broad.mit.edu	37	X	100667415	100667415	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:100667415T>A	ENST00000316594.5	+	2	517	c.439T>A	c.(439-441)Ttt>Att	p.F147I		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	147	RRM 2.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						GCCAGTGGACTTTCAGGGGCG	0.488000													14	128					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18741270	18741270	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:18741270T>A	ENST00000513874.1	-	7	828	c.689A>T	c.(688-690)gAg>gTg	p.E230V	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	230										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TACCTCCACCTCTACTTTCTT	0.527000													37	101					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924950	70924950	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr14:70924950T>A	ENST00000603540.1	+	2	992	c.734T>A	c.(733-735)aTg>aAg	p.M245K	ADAM21_ENST00000267499.3_Missense_Mutation_p.M245K|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	245	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GTGGATTCCATGTATAAGCAG	0.358000													13	93					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466261	179466261	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:179466261A>G	ENST00000589042.1	-	287	55687	c.55463T>C	c.(55462-55464)gTc>gCc	p.V18488A	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V9548A|TTN_ENST00000460472.2_Missense_Mutation_p.V9423A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V16847A|TTN_ENST00000342992.6_Missense_Mutation_p.V15920A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V9615A|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16847	Ig-like 106.						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)			GATATCACTGACTTTCAGATC	0.388000													62	112					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70503921	70503921	+	Missense_Mutation	SNP	A	A	C	rs146798900		TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:70503921A>C	ENST00000310961.5	+	22	2733	c.2315A>C	c.(2314-2316)aAc>aCc	p.N772T	LRRC7_ENST00000415775.2_Missense_Mutation_p.N51T|LRRC7_ENST00000035383.5_Missense_Mutation_p.N767T			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	767						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTCACTGACAACTGGACTGAT	0.498000													67	150					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5187905	5187905	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr5:5187905T>G	ENST00000274181.7	+	6	1169	c.1031T>G	c.(1030-1032)cTt>cGt	p.L344R	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.L344R	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	344	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGTCTGATTCTTCTAGAAGAT	0.308000													12	78					0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028681	102028681	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr14:102028681C>T	ENST00000510508.4	+	1	994	c.848C>T	c.(847-849)tCt>tTt	p.S283F	DIO3_ENST00000359323.3_Missense_Mutation_p.S257F			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	257					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TACCAGGTCTCTGAGCTGCGC	0.592000													7	72					0	0	1	0	0
UFSP2	55325	broad.mit.edu	37	4	186329122	186329122	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:186329122C>T	ENST00000264689.6	-	9	1205	c.1089G>A	c.(1087-1089)ttG>ttA	p.L363L		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	363						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		TTATACCGATCAATTGGTTTA	0.388000													6	50					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129147288	129147288	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:129147288A>G	ENST00000540052.1	+	3	584	c.540A>G	c.(538-540)ggA>ggG	p.G180G	BCORL1_ENST00000303743.5_Silent_p.G180G|BCORL1_ENST00000218147.7_Silent_p.G180G|BCORL1_ENST00000359304.2_Silent_p.G180G	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	180					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAACTCTGGGAACTGGAGTCC	0.562000													20	154					0	0	1	0	0
TMEM164	84187	broad.mit.edu	37	X	109247194	109247194	+	Silent	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:109247194G>A	ENST00000372073.1	+	2	528	c.192G>A	c.(190-192)acG>acA	p.T64T	TMEM164_ENST00000372068.2_Silent_p.T64T|TMEM164_ENST00000372072.3_Intron|TMEM164_ENST00000288381.4_Silent_p.T64T			Q5U3C3	TM164_HUMAN	transmembrane protein 164	64						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						TGAGGCAGACGAAGGAGGACG	0.622000													21	124					0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107379800	107379800	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr9:107379800T>A	ENST00000259362.1	-	1	685	c.686A>T	c.(685-687)cAc>cTc	p.H229L		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						CTCAGAGGAGTGAATCTTGAG	0.438000													20	65					0	0	1	0	0
DEFB136	613210	broad.mit.edu	37	8	11831549	11831549	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr8:11831549G>A	ENST00000382209.2	-	2	133	c.134C>T	c.(133-135)cCg>cTg	p.P45L		NM_001033018.2	NP_001028190.2	Q30KP8	DB136_HUMAN	defensin, beta 136	45					defense response to bacterium	extracellular region				endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		GTATCCTGGCGGACACCCGAA	0.488000													8	222					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72285798	72285798	+	Nonsense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:72285798T>A	ENST00000579490.1	+	4	839	c.704T>A	c.(703-705)tTg>tAg	p.L235*	DNAI2_ENST00000446837.2_Nonsense_Mutation_p.L178*|DNAI2_ENST00000311014.6_Nonsense_Mutation_p.L178*|DNAI2_ENST00000582036.1_Nonsense_Mutation_p.L178*|DNAI2_ENST00000307504.5_Nonsense_Mutation_p.L35*			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	178					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AACAGGAAGTTGGCAGTGGCA	0.597000									Kartagener syndrome				21	35					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581628	140581628	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr5:140581628A>G	ENST00000354757.3	+	1	2281	c.2281A>G	c.(2281-2283)Aca>Gca	p.T761A	PCDHB11_ENST00000536699.1_Missense_Mutation_p.T396A	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		761					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTTCCGAGACAAATGAATT	0.512000													44	85					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39853529	39853529	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:39853529C>T	ENST00000564288.1	+	58	15792	c.15015C>T	c.(15013-15015)ctC>ctT	p.L5005L	MACF1_ENST00000317713.7_Silent_p.L2943L|MACF1_ENST00000289893.4_Silent_p.L3445L|MACF1_ENST00000567887.1_Silent_p.L5042L|MACF1_ENST00000361689.2_Silent_p.L2943L|MACF1_ENST00000539005.1_Silent_p.L2922L|MACF1_ENST00000545844.1_Silent_p.L2943L|MACF1_ENST00000372915.3_Silent_p.L5010L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5010					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGGGTCACTCGAAGAAATGA	0.468000													35	73					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136362542	136362542	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:136362542G>A	ENST00000264160.4	+	3	497	c.127G>A	c.(127-129)Gta>Ata	p.V43I	R3HDM1_ENST00000329971.3_Missense_Mutation_p.V43I|R3HDM1_ENST00000409478.1_Missense_Mutation_p.V43I|R3HDM1_ENST00000410054.1_Intron|R3HDM1_ENST00000409606.1_Missense_Mutation_p.V43I	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	43							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GAAGATTTTGGTAGAGAAGAA	0.308000													27	30					0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73011604	73011604	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr7:73011604T>A	ENST00000313375.3	-	9	1558	c.1511A>T	c.(1510-1512)aAa>aTa	p.K504I	MLXIPL_ENST00000429400.2_Missense_Mutation_p.K504I|MLXIPL_ENST00000414749.2_Missense_Mutation_p.K504I|MLXIPL_ENST00000395189.1_Missense_Mutation_p.K411I|MLXIPL_ENST00000434326.1_Missense_Mutation_p.K411I|MLXIPL_ENST00000354613.1_Missense_Mutation_p.K504I	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	504					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGGCTGGCTTTCTGTCCCCT	0.652000													5	8					0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35850669	35850669	+	Silent	SNP	A	A	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:35850669A>C	ENST00000327809.4	+	2	1078	c.877A>C	c.(877-879)Agg>Cgg	p.R293R	FFAR3_ENST00000594310.1_Silent_p.R293R	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	293						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GCTGCTGAGGAGGTTGTGTGG	0.597000													15	87					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999520	46999520	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr10:46999520G>A	ENST00000374314.4	+	1	1595	c.640G>A	c.(640-642)Gag>Aag	p.E214K	GPRIN2_ENST00000374317.1_Missense_Mutation_p.E214K			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	214										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TGCCCAGGCTGAGCCCAAAGC	0.617000													8	29					0	0	1	0	0
SSX3	10214	broad.mit.edu	37	X	48208987	48208987	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:48208987G>A	ENST00000376893.3	-	7	595	c.502C>T	c.(502-504)Cca>Tca	p.P168S	SSX3_ENST00000298396.2_Intron|SSX3_ENST00000376895.1_Intron			Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						tattgcagtggtctggaaccg	0.408000													9	53					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56052950	56052950	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr3:56052950G>A	ENST00000288221.6	-	8	2006	c.1751C>T	c.(1750-1752)gCg>gTg	p.A584V		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	584						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CTCTAGCGTCGCCAGTGCAGT	0.468000													12	66					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215391	140215391	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr5:140215391T>C	ENST00000525929.1	+	1	1423	c.1423T>C	c.(1423-1425)Ttc>Ctc	p.F475L	PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.F475L|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCCACATCTTCACTGTGTC	0.677000													49	60					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9020125	9020125	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:9020125T>C	ENST00000397910.4	-	21	37573	c.37370A>G	c.(37369-37371)gAt>gGt	p.D12457G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12459	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCAGATGGCATCCACTCCAGT	0.522000													26	149					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10317744	10317744	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:10317744A>G	ENST00000403437.2	-	10	957	c.863T>C	c.(862-864)aTt>aCt	p.I288T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	288	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTGATAAAAAATATGGTAGCT	0.313000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				7	29					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994542	140994542	+	Missense_Mutation	SNP	T	T	C	rs148062938		TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:140994542T>C	ENST00000285879.4	+	4	1638	c.1352T>C	c.(1351-1353)tTc>tCc	p.F451S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	451							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTCCTCTTTCTCCTACACT	0.458000										HNSCC(15;0.026)			34	269					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73812517	73812517	+	Silent	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:73812517T>A	ENST00000332687.6	-	4	851	c.633A>T	c.(631-633)gcA>gcT	p.A211A	RLIM_ENST00000349225.2_Silent_p.A211A	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	211					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCTGCTTCTTGCCCTCCTCT	0.488000													22	140					0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096987	107096987	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr3:107096987T>G	ENST00000261058.1	+	1	800	c.553T>G	c.(553-555)Tct>Gct	p.S185A		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	185										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CACTTTGGCCTCTACAGACAT	0.413000													32	91					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33568000	33568000	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:33568000C>T	ENST00000404816.2	+	25	4179	c.3826C>T	c.(3826-3828)Caa>Taa	p.Q1276*	LTBP1_ENST00000404525.1_Nonsense_Mutation_p.Q897*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.Q951*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.Q950*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.Q1277*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.Q897*|LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000272273.5_Intron			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1276	EGF-like 13; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCAGGGCTTTCAAGCCCCACA	0.458000													7	46					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74511351	74511351	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr16:74511351C>A	ENST00000422840.2	-	12	1907	c.1908G>T	c.(1906-1908)caG>caT	p.Q636H	GLG1_ENST00000447066.2_Missense_Mutation_p.Q625H|GLG1_ENST00000205061.5_Missense_Mutation_p.Q636H	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	636						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GGCACTTATCCTGGAGGGCAG	0.488000													4	95					0.00909568	0.00918069	1	1	0
MYH11	4629	broad.mit.edu	37	16	15851723	15851723	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr16:15851723C>T	ENST00000452625.2	-	14	1644	c.1557G>A	c.(1555-1557)ggG>ggA	p.G519G	MYH11_ENST00000300036.5_Silent_p.G512G|MYH11_ENST00000396324.3_Silent_p.G519G|MYH11_ENST00000576790.2_Silent_p.G512G	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	512	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GTAGGTCCAGCCCAAAGTCGA	0.612000			T	CBFB	AML								33	38					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17083938	17083938	+	Silent	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:17083938C>G	ENST00000341712.4	+	23	3063	c.3063C>G	c.(3061-3063)gtC>gtG	p.V1021V	RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Intron|MPRIP_ENST00000395811.5_Intron|MPRIP_ENST00000395804.3_Silent_p.V1021V			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	1021						cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TTGAGCAGGTCTCGTGGGATA	0.617000													98	259					0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103611846	103611846	+	Silent	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:103611846G>A	ENST00000226578.4	-	6	855	c.756C>T	c.(754-756)atC>atT	p.I252I	MANBA_ENST00000505239.1_Silent_p.I195I	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	252					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	p.I252I(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GGATGGCTACGATCACTTGAC	0.393000													19	138					0	0	1	0	0
DUSP21	63904	broad.mit.edu	37	X	44703920	44703920	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:44703920A>T	ENST00000339042.4	+	1	672	c.542A>T	c.(541-543)gAg>gTg	p.E181V		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	181						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						GACATCTATGAGAAGGACCTA	0.463000													25	57					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72141297	72141297	+	Silent	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr15:72141297C>G	ENST00000356056.5	-	39	7198	c.6726G>C	c.(6724-6726)ctG>ctC	p.L2242L	MYO9A_ENST00000424560.1_Silent_p.L2313L|MYO9A_ENST00000444904.1_Silent_p.L2223L|MYO9A_ENST00000564571.1_Silent_p.L2242L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2242	Rho-GAP.|Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCACAACAATCAGTTCCACAC	0.373000													4	30					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1271250	1271250	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:1271250G>C	ENST00000308624.5	+	14	1320	c.1191G>C	c.(1189-1191)aaG>aaC	p.K397N	SNTG2_ENST00000407292.1_Missense_Mutation_p.K270N	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	397	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCCATGGGAAGAGCCATGTTT	0.527000													7	30					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2924870	2924870	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr3:2924870C>A	ENST00000397461.1	+	8	1078	c.694C>A	c.(694-696)Cca>Aca	p.P232T	CNTN4_ENST00000358480.3_Missense_Mutation_p.P13T|CNTN4_ENST00000427331.1_Missense_Mutation_p.P232T|CNTN4_ENST00000418658.1_Missense_Mutation_p.P232T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	232	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGTGCAGTTCCCAGAAACAGT	0.408000													6	35					8.12818e-05	8.37637e-05	1	1	0
GPR98	84059	broad.mit.edu	37	5	90136742	90136742	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr5:90136742G>A	ENST00000405460.2	+	78	17055	c.16959G>A	c.(16957-16959)atG>atA	p.M5653I	GPR98_ENST00000425867.2_Missense_Mutation_p.M1314I	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5653					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCATCAGCATGAAAGTGGCCA	0.398000													18	33					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40843439	40843439	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:40843439C>G	ENST00000264638.4	+	15	2471	c.2254C>G	c.(2254-2256)Ctg>Gtg	p.L752V	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	752	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGTGGACCATCTGCCTGTCAC	0.597000													19	62					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10725220	10725220	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:10725220T>C	ENST00000377022.3	-	5	742	c.425A>G	c.(424-426)gAc>gGc	p.D142G	CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Missense_Mutation_p.D142G	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGCACCGCCGTCCTTGGAGGG	0.682000													7	25					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49750981	49750981	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr3:49750981C>G	ENST00000327697.6	+	28	2854	c.2710C>G	c.(2710-2712)Ctc>Gtc	p.L904V	RNF123_ENST00000433785.1_Missense_Mutation_p.L16V	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	904						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGCTGCCATTCTCGCCAAACA	0.637000													6	15					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185969213	185969213	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:185969213G>A	ENST00000271588.4	+	26	4140	c.3911G>A	c.(3910-3912)gGt>gAt	p.G1304D	HMCN1_ENST00000367492.2_Missense_Mutation_p.G1304D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1304	Ig-like C2-type 10.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTACACAATGGTAGAGAGTTG	0.363000													24	33					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139729080	139729080	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr8:139729080T>C	ENST00000303045.6	-	28	2834	c.2388A>G	c.(2386-2388)cgA>cgG	p.R796R	COL22A1_ENST00000435777.1_Silent_p.R796R|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	796	Collagen-like 6.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTCTCCAGGTCGGCCTGCCA	0.388000										HNSCC(7;0.00092)			18	39					0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468073	35468073	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr21:35468073G>A	ENST00000608209.1	+	2	1088	c.576G>A	c.(574-576)atG>atA	p.M192I	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000381151.3_Missense_Mutation_p.M192I	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CTCTGCTCATGATCATTGGGG	0.478000													48	56					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080946	152080946	+	Missense_Mutation	SNP	A	A	T	rs71585886		TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:152080946A>T	ENST00000368804.1	-	2	4746	c.4747T>A	c.(4747-4749)Tta>Ata	p.L1583I		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1583	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTCCTCTAAACGGAATTTT	0.582000													85	78					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135203782	135203782	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr9:135203782T>A	ENST00000372169.2	-	10	3385	c.3203A>T	c.(3202-3204)gAg>gTg	p.E1068V	SETX_ENST00000393220.1_Missense_Mutation_p.E1068V|SETX_ENST00000224140.5_Missense_Mutation_p.E1068V			Q7Z333	SETX_HUMAN	senataxin	1068					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAAAAGAGTCTCTGTCTTTTC	0.373000													27	116					0	0	1	0	0
GOLGA8A	23015	broad.mit.edu	37	15	34673687	34673687	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr15:34673687C>T	ENST00000543376.1	-	23	4062	c.1308G>A	c.(1306-1308)caG>caA	p.Q436Q	GOLGA8A_ENST00000359187.4_Silent_p.Q579Q|GOLGA8A_ENST00000432566.2_Silent_p.Q609Q|GOLGA8A_ENST00000360553.3_Silent_p.Q579Q			A7E2F4	GOG8A_HUMAN	golgin A8 family, member A	607						Golgi cisterna membrane							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CTGGGTGCTCCTGGTGGTCCT	0.582000													9	100					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108355512	108355512	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr3:108355512T>C	ENST00000361582.3	+	11	1198	c.968T>C	c.(967-969)gTa>gCa	p.V323A	DZIP3_ENST00000463306.1_Missense_Mutation_p.V323A	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	323					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GGTGACATGGTAAGGATGCTG	0.299000													33	176					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169267850	169267850	+	Translation_Start_Site	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr5:169267850T>A	ENST00000540750.1	+	0	1433				DOCK2_ENST00000256935.8_Silent_p.I931I|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.I423I			Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2						actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGATCACATTCTGATTGTGA	0.463000													8	25					0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48286147	48286147	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:48286147C>T	ENST00000320048.1	+	1	735	c.735C>T	c.(733-735)gtC>gtT	p.V245V		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TCACAGTTGTCGACCTGTTCT	0.512000													39	100					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70488913	70488913	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:70488913G>T	ENST00000310961.5	+	18	1969	c.1551G>T	c.(1549-1551)caG>caT	p.Q517H	LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Missense_Mutation_p.Q512H|RP11-181B18.1_ENST00000414132.1_RNA			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	512						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGTGTGATCAGCAGATCCAAG	0.582000													29	55					5.45727e-16	5.80103e-16	1	1	0
MSTO1	55154	broad.mit.edu	37	1	155717479	155717479	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:155717479C>T	ENST00000452804.2	+	7	747	c.686C>T	c.(685-687)gCg>gTg	p.A229V	MSTO1_ENST00000538143.1_Intron			Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	225					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					CAGGTAGTGGCGTGGCAATGT	0.552000													10	60					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79841395	79841395	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr9:79841395G>A	ENST00000360280.3	+	15	1498	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	VPS13A_ENST00000357409.5_Missense_Mutation_p.G413E|VPS13A_ENST00000376634.4_Missense_Mutation_p.G413E|VPS13A_ENST00000376636.3_Missense_Mutation_p.G413E	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	413					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAGAAAGCTGGATACAAAATT	0.308000													12	47					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130884256	130884256	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr12:130884256G>C	ENST00000261655.4	-	18	3263	c.3100C>G	c.(3100-3102)Caa>Gaa	p.Q1034E		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	1034						cell junction|synapse		p.Q1034E(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGCGTATCTTGAGAGTAGTGG	0.448000													23	84					0	0	1	0	0
UBE2M	9040	broad.mit.edu	37	19	59069642	59069642	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:59069642T>C	ENST00000253023.3	-	1	685	c.107A>G	c.(106-108)aAg>aGg	p.K36R		NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	36	Interaction with UBA3.				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CCCCCTACCCTTCTGGATCCG	0.652000													5	30					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824261	54824261	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr20:54824261A>G	ENST00000243911.2	+	1	474	c.362A>G	c.(361-363)gAc>gGc	p.D121G		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	158					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			AACATCTTCGACTCCATGATC	0.562000													17	72					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70498651	70498651	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr8:70498651G>C	ENST00000260128.4	+	7	1189	c.472G>C	c.(472-474)Gaa>Caa	p.E158Q	SULF1_ENST00000458141.2_Missense_Mutation_p.E158Q|SULF1_ENST00000402687.4_Missense_Mutation_p.E158Q|SULF1_ENST00000419716.3_Missense_Mutation_p.E158Q	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	158					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TGGGTGGCGAGAATGGCTTGG	0.363000													45	133					0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053169	11053169	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:11053169A>C	ENST00000295082.1	+	1	1107	c.617A>C	c.(616-618)gAg>gCg	p.E206A		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	206						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		ACCATCCCCGAGCTGCAGGTG	0.672000													13	33					0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40635067	40635067	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:40635067C>T	ENST00000343619.4	+	9	851	c.728C>T	c.(727-729)tCa>tTa	p.S243L	ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.S250L|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.S243L|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.S200L|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.S243L|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.S200L	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	243					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.S243L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTCCGAGCCTCACTCTATCCC	0.418000													18	49					0	0	1	0	0
EIF5A	1984	broad.mit.edu	37	17	7212983	7212983	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:7212983G>A	ENST00000336458.8	+	2	430	c.29G>A	c.(28-30)gGa>gAa	p.G10E	EIF5A_ENST00000416016.2_Missense_Mutation_p.G10E|EIF5A_ENST00000572815.1_Missense_Mutation_p.G10E|EIF5A_ENST00000419711.2_Missense_Mutation_p.G10E|EIF5A_ENST00000573542.1_Missense_Mutation_p.G10E|EIF5A_ENST00000336452.7_Missense_Mutation_p.G40E|EIF5A_ENST00000571955.1_Missense_Mutation_p.G10E|EIF5A_ENST00000576930.1_Missense_Mutation_p.G10E	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	10					induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						TTCGAGACAGGAGATGCAGGG	0.502000													55	214					0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8736297	8736297	+	Silent	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:8736297G>C	ENST00000311434.9	-	9	950	c.711C>G	c.(709-711)gcC>gcG	p.A237A	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	237					platelet activation	cytosol											TGGCCTCGCTGGCCATCTGCT	0.697000													9	50					0	0	1	0	0
XRN2	22803	broad.mit.edu	37	20	21362667	21362667	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr20:21362667C>T	ENST00000377191.3	+	28	2715	c.2620C>T	c.(2620-2622)Ccc>Tcc	p.P874S	XRN2_ENST00000430571.2_Missense_Mutation_p.P798S|XRN2_ENST00000539513.1_Missense_Mutation_p.P820S	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	874				P -> L (in Ref. 2; AAR24369).	cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						AGGTCCTCCTCCCCTTTTCCA	0.378000													8	37					0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110466361	110466361	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:110466361T>C	ENST00000329608.6	+	6	1509	c.1118T>C	c.(1117-1119)gTg>gCg	p.V373A	CSF1_ENST00000369801.1_Intron|CSF1_ENST00000369802.3_Missense_Mutation_p.V373A|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000344188.5_Intron	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	373					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGGGCCCCGTGAGGCCCACT	0.627000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	67					0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687368	158687368	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:158687368C>T	ENST00000368146.1	-	1	585	c.586G>A	c.(586-588)Gac>Aac	p.D196N	OR6K3_ENST00000368145.1_Missense_Mutation_p.D180N			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GGGACCAAGTCACAGAAGATC	0.478000													38	105					0	0	1	0	0
NEK4	6787	broad.mit.edu	37	3	52778313	52778313	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr3:52778313T>C	ENST00000233027.5	-	11	2038	c.1836A>G	c.(1834-1836)ccA>ccG	p.P612P	NEK4_ENST00000535191.1_Silent_p.P523P|NEK4_ENST00000383721.4_Silent_p.P566P	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	612					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TGGCTGATAATGGTCGATCCT	0.388000													64	159					0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450035	158450035	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:158450035T>C	ENST00000368152.1	+	1	368	c.368T>C	c.(367-369)tTc>tCc	p.F123S	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CAAATGTTCTTCTTCCTTGGT	0.453000													71	247					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19752452	19752452	+	Silent	SNP	G	G	A	rs114178008		TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr13:19752452G>A	ENST00000400113.3	-	3	413	c.309C>T	c.(307-309)taC>taT	p.Y103Y		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	103					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.Y103*(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGCCTCTGGCGTAATTATTGG	0.527000													24	124					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140135	56140135	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr20:56140135G>C	ENST00000319441.4	+	9	1522	c.1358G>C	c.(1357-1359)gGa>gCa	p.G453A	PCK1_ENST00000535860.1_3'UTR|PCK1_ENST00000543666.1_Missense_Mutation_p.G136A	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	453					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TGGCAACATGGAGTCTTTGTG	0.463000													36	107					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132498204	132498204	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr12:132498204C>T	ENST00000333577.4	+	19	3998	c.3889C>T	c.(3889-3891)Cac>Tac	p.H1297Y	EP400_ENST00000330386.6_Missense_Mutation_p.H1261Y|EP400_ENST00000332482.4_Missense_Mutation_p.H1224Y|EP400_ENST00000389561.2_Missense_Mutation_p.H1261Y|EP400_ENST00000389562.2_Missense_Mutation_p.H1260Y			Q96L91	EP400_HUMAN	E1A binding protein p400	1297	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CATAAGGTTACACAGGGTAGG	0.463000													39	37					0	0	1	0	0
DGCR5	26220	broad.mit.edu	37	22	18975341	18975341	+	RNA	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr22:18975341G>T	ENST00000438934.1	+	0	217				DGCR5_ENST00000421572.1_RNA|DGCR5_ENST00000440005.2_RNA																							CGCCATTCATGAAGAATTCCC	0.488000													7	14					0.0293803	0.0294896	1	1	0
KLHL14	57565	broad.mit.edu	37	18	30275515	30275515	+	Splice_Site	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr18:30275515A>G	ENST00000359358.4	-	4	1508	c.1070T>C	c.(1069-1071)aTt>aCt	p.I357T		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	357						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GTATGGCATAACTGAAATTAA	0.403000													13	33					0	0	1	0	0
TCEA2	6919	broad.mit.edu	37	20	62701696	62701696	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr20:62701696A>T	ENST00000361317.2	+	8	962	c.520A>T	c.(520-522)Aac>Tac	p.N174Y	TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000343484.5_Missense_Mutation_p.N201Y|TCEA2_ENST00000465111.1_3'UTR	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	201	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GGATGCCAAGAACCCTGACCT	0.557000													32	78					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99514904	99514904	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr3:99514904C>A	ENST00000261037.3	+	5	2539	c.2159C>A	c.(2158-2160)tCa>tAa	p.S720*	COL8A1_ENST00000273342.4_Nonsense_Mutation_p.S720*	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	720	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CAGATGCCCTCAGAACAGGCT	0.498000													7	48					0.00307968	0.00312013	1	1	0
XCR1	2829	broad.mit.edu	37	3	46062510	46062510	+	Silent	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr3:46062510C>G	ENST00000309285.3	-	2	1286	c.930G>C	c.(928-930)ctG>ctC	p.L310L	XCR1_ENST00000542109.1_Silent_p.L310L	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	310					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TGGGTGCCTGCAGCCGGCAGA	0.632000													6	15					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179465824	179465824	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:179465824G>A	ENST00000589042.1	-	288	56031	c.55807C>T	c.(55807-55809)Ccg>Tcg	p.P18603S	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P9663S|TTN_ENST00000460472.2_Missense_Mutation_p.P9538S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P16962S|TTN_ENST00000342992.6_Missense_Mutation_p.P16035S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P9730S|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16962	Fibronectin type-III 34.						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)			TCATTCTTCGGGGGTTTCCAT	0.448000													30	49					0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	397662	397662	+	Splice_Site	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:397662G>A	ENST00000331563.2	+	4	1144	c.1068G>A	c.(1066-1068)caG>caA	p.Q356Q		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	356					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAAGAAGCAGGTGACCACCC	0.632000													11	51					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176318097	176318097	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr5:176318097C>G	ENST00000292432.5	-	4	446	c.355G>C	c.(355-357)Gag>Cag	p.E119Q		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	119	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCTGGGCTCCACCCTATGC	0.622000													22	110					0	0	1	0	0
FAR2P3	100288897	broad.mit.edu	37	2	131459893	131459893	+	RNA	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:131459893C>G	ENST00000425151.1	+	0	420																											AGGCCATATGCTGATTTCACC	0.468000													5	4					0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210329238	210329238	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:210329238C>A	ENST00000537238.1	+	8	1614	c.1223C>A	c.(1222-1224)gCa>gAa	p.A408E	SYT14_ENST00000422431.1_Missense_Mutation_p.A491E|SYT14_ENST00000472886.1_Missense_Mutation_p.A446E|SYT14_ENST00000399639.2_Missense_Mutation_p.A446E|SYT14_ENST00000367015.1_Missense_Mutation_p.A408E|SYT14_ENST00000534859.1_Missense_Mutation_p.A446E|SYT14_ENST00000367019.1_Missense_Mutation_p.A446E|SYT14_ENST00000271745.7_3'UTR	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	446						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAAAATTTGGCAGCAAACAGA	0.378000													20	55					7.41877e-09	7.77891e-09	1	1	0
ZNF69	7620	broad.mit.edu	37	19	12015571	12015571	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:12015571C>T	ENST00000429654.2	+	4	499	c.359C>T	c.(358-360)tCt>tTt	p.S120F	ZNF69_ENST00000340180.5_Missense_Mutation_p.S106F			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	120						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		AAGAAAGCTTCTCCTGAAATA	0.398000													34	212					0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107360749	107360749	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr9:107360749A>T	ENST00000374779.2	-	1	1039	c.946T>A	c.(946-948)Ttt>Att	p.F316I		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TACTTGTTAAAATTTTTTCTT	0.343000													4	34					0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125580731	125580731	+	Silent	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr8:125580731G>C	ENST00000518547.1	-	7	980	c.507C>G	c.(505-507)gtC>gtG	p.V169V	MTSS1_ENST00000378017.3_Silent_p.V169V|NDUFB9_ENST00000522532.1_3'UTR|MTSS1_ENST00000325064.5_Silent_p.V173V|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000431961.2_5'UTR|MTSS1_ENST00000524090.1_Silent_p.V59V	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	169	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACTTATCATTGACATCTTGGA	0.468000													18	62					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22381071	22381071	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:22381071G>A	ENST00000263160.3	+	4	1008	c.571G>A	c.(571-573)Gag>Aag	p.E191K		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	191					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGGACTTGTTGAGGTATGTAA	0.373000													5	43					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14270344	14270344	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:14270344C>T	ENST00000340736.6	-	11	2204	c.1907G>A	c.(1906-1908)tGg>tAg	p.W636*	LPHN1_ENST00000361434.3_Nonsense_Mutation_p.W631*|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	636					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CATGTCCTTCCAGGACTCCAG	0.632000													7	29					0	0	1	0	0
NUCB2	4925	broad.mit.edu	37	11	17336988	17336988	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:17336988A>G	ENST00000529010.1	+	11	1187	c.968A>G	c.(967-969)gAa>gGa	p.E323G	NUCB2_ENST00000458064.2_Intron|NUCB2_ENST00000323688.6_Missense_Mutation_p.E323G	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	323	Binds to necdin (By similarity).|EF-hand 2.					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AAAGCCACAGAAAAAAAAGAA	0.328000													19	41					0	0	1	0	0
BRI3BP	140707	broad.mit.edu	37	12	125509956	125509956	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr12:125509956G>A	ENST00000341446.8	+	3	827	c.736G>A	c.(736-738)Gac>Aac	p.D246N		NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN	BRI3 binding protein	246						integral to membrane|mitochondrial outer membrane				large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		CGAGAGCCTGGACCGCTCCAA	0.597000													10	6					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48142638	48142638	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:48142638G>A	ENST00000418331.2	+	4	788	c.436G>A	c.(436-438)Gct>Act	p.A146T	PTPRJ_ENST00000440289.2_Missense_Mutation_p.A146T|PTPRJ_ENST00000526550.1_3'UTR	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	146	Fibronectin type-III 1.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGACACAGCTGCTTCTGAGTA	0.388000													14	40					0	0	1	0	0
SEC63	11231	broad.mit.edu	37	6	108227779	108227779	+	Silent	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr6:108227779G>T	ENST00000369002.4	-	10	1013	c.834C>A	c.(832-834)atC>atA	p.I278I		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	278	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CAATTTCTCTGATTAGCTAGA	0.333000													41	63					1.04594e-18	1.12288e-18	1	1	0
ZC3H12C	85463	broad.mit.edu	37	11	110007975	110007975	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:110007975A>G	ENST00000453089.2	+	1	1397	c.516A>G	c.(514-516)ggA>ggG	p.G172G	ZC3H12C_ENST00000278590.3_Silent_p.G203G|ZC3H12C_ENST00000528673.1_Silent_p.G204G			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	203							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TCAAACTTGGAAATAAAAGTG	0.368000													10	30					0	0	1	0	0
EEF1A2	1917	broad.mit.edu	37	20	62120353	62120353	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr20:62120353C>T	ENST00000217182.3	-	7	1347	c.1182G>A	c.(1180-1182)ctG>ctA	p.L394L	EEF1A2_ENST00000298049.7_Silent_p.L394L	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	394						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CTCCAGACTTCAGGGACTTGG	0.622000													24	67					0	0	1	0	0
VRK3	51231	broad.mit.edu	37	19	50482470	50482470	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:50482470T>C	ENST00000599538.1	-	14	1970	c.1306A>G	c.(1306-1308)Atg>Gtg	p.M436V	VRK3_ENST00000594948.1_Missense_Mutation_p.M436V|VRK3_ENST00000601341.1_Missense_Mutation_p.M386V|VRK3_ENST00000316763.3_Missense_Mutation_p.M436V|VRK3_ENST00000377011.2_Missense_Mutation_p.M386V|VRK3_ENST00000443401.2_Missense_Mutation_p.M205V			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	436	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GTGAGGGCCATCACCACCTTC	0.587000													28	55					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71571257	71571257	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr7:71571257A>G	ENST00000395275.2	-	4	655	c.267T>C	c.(265-267)gtT>gtC	p.V89V	CALN1_ENST00000405452.2_Silent_p.V47V|CALN1_ENST00000431984.1_Silent_p.V47V|CALN1_ENST00000395276.2_Silent_p.V47V|CALN1_ENST00000329008.5_Silent_p.V47V|CALN1_ENST00000412588.1_Silent_p.V89V	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	47	EF-hand 2.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CCCGGTCCAGAACCCGAAAGG	0.532000													15	51					0	0	1	0	0
CRYL1	51084	broad.mit.edu	37	13	21063599	21063599	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr13:21063599C>T	ENST00000382812.1	-	4	348	c.120G>A	c.(118-120)ctG>ctA	p.L40L	CRYL1_ENST00000298248.7_Silent_p.L62L			Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	62					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		GGGAGCCTTTCAGAGAACCTG	0.478000											OREG0022283	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	52					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64178818	64178818	+	Silent	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr18:64178818G>A	ENST00000262150.2	-	10	1855	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	521	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GATTATCTATGATTGTAAAAC	0.308000													12	29					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13214465	13214465	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr10:13214465C>T	ENST00000378694.1	+	3	514	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	MCM10_ENST00000378714.3_Silent_p.L147L|MCM10_ENST00000484800.2_Silent_p.L147L			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	147					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CCCAGCCCGTCTGCAAAAATC	0.393000													52	111					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49422947	49422947	+	Silent	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr12:49422947C>A	ENST00000301067.7	-	44	14147	c.14148G>T	c.(14146-14148)ggG>ggT	p.G4716G		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGGCCTCCTCCCCCAAGATGC	0.597000													14	30					1.3612e-06	1.41084e-06	1	1	0
LZTR1	8216	broad.mit.edu	37	22	21348902	21348902	+	Silent	SNP	C	C	T	rs148399643		TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr22:21348902C>T	ENST00000215739.8	+	15	2030	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F	LZTR1_ENST00000389355.3_Silent_p.F538F|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	557					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CACTGAGCTTCCAGTTGTGCC	0.642000													165	70					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1921092	1921092	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:1921092C>T	ENST00000399161.2	-	11	2250	c.1503G>A	c.(1501-1503)aaG>aaA	p.K501K	MYT1L_ENST00000428368.2_Silent_p.K499K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	501					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGCTCTCTTTCTTTTCTGTTC	0.473000													51	149					0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135523579	135523579	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr9:135523579C>T	ENST00000372159.3	-	11	1430	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	DDX31_ENST00000438527.3_Missense_Mutation_p.E298K|DDX31_ENST00000372153.1_Missense_Mutation_p.E427K|DDX31_ENST00000310532.2_Missense_Mutation_p.E427K	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	427	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		AACTCACCTTCTGTGAGTGTC	0.413000													5	33					0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188584016	188584016	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr3:188584016C>T	ENST00000312675.4	+	9	1685	c.1439C>T	c.(1438-1440)tCc>tTc	p.S480F	LPP_ENST00000543006.1_Missense_Mutation_p.S480F	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	480	LIM zinc-binding 2.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		AATGTGTGTTCCAAGCCCATC	0.552000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								12	84					0	0	1	0	0
NAA10	8260	broad.mit.edu	37	X	153199891	153199891	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:153199891A>T	ENST00000464845.1	-	2	377	c.59T>A	c.(58-60)cTc>cAc	p.L20H	NAA10_ENST00000393712.3_Missense_Mutation_p.L20H|NAA10_ENST00000370009.1_Missense_Mutation_p.L20H|NAA10_ENST00000370015.4_Missense_Mutation_p.L20H|NAA10_ENST00000393710.3_5'UTR	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	20	Interaction with NAA15.|N-acetyltransferase.				DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						GGGCAGGCAGAGGAGGTTGCA	0.582000													3	19					0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150300915	150300915	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:150300915C>T	ENST00000324862.6	+	4	578	c.413C>T	c.(412-414)aCt>aTt	p.T138I	PRPF3_ENST00000414970.2_Intron|PRPF3_ENST00000543398.1_Missense_Mutation_p.T3I|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	138					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GGCATGCTGACTAAGCTCCAG	0.468000													6	181					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3335255	3335255	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:3335255A>T	ENST00000378398.3	+	13	2968	c.2886A>T	c.(2884-2886)agA>agT	p.R962S	PRDM16_ENST00000270722.5_Missense_Mutation_p.R962S|PRDM16_ENST00000511072.1_Missense_Mutation_p.R963S|PRDM16_ENST00000378391.2_Missense_Mutation_p.R962S|PRDM16_ENST00000514189.1_Missense_Mutation_p.R962S|PRDM16_ENST00000441472.2_Missense_Mutation_p.R961S|PRDM16_ENST00000442529.2_Missense_Mutation_p.R961S|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	962	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TCTTCCCCAGATCAGCCAATC	0.627000			T	EVI1	"""MDS, AML"""								15	45					0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64722511	64722511	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:64722511G>C	ENST00000338957.4	+	5	2000	c.1933G>C	c.(1933-1935)Gag>Cag	p.E645Q	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.E634Q	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	634							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTATGGCCCAGAGGATTCTAA	0.537000													6	22					0	0	1	0	0
IFT74	80173	broad.mit.edu	37	9	27009126	27009126	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr9:27009126G>C	ENST00000443698.1	+	9	867	c.696G>C	c.(694-696)gaG>gaC	p.E232D	IFT74_ENST00000429045.2_Missense_Mutation_p.E232D|IFT74_ENST00000433700.1_Missense_Mutation_p.E232D|IFT74_ENST00000380062.5_Missense_Mutation_p.E232D	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	232						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		AGTACCTAGAGATGAAAACCA	0.328000													15	36					0	0	1	0	0
EPDR1	54749	broad.mit.edu	37	7	37960321	37960321	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr7:37960321C>G	ENST00000559325.1	+	1	159	c.140C>G	c.(139-141)gCg>gGg	p.A47G	EPDR1_ENST00000423717.1_5'UTR|EPDR1_ENST00000199448.4_5'UTR|EPDR1_ENST00000476620.1_Intron			Q9UM22	EPDR1_HUMAN	ependymin related 1	0					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGCTCCCGCGCGATTCACTGG	0.642000													14	36					0	0	1	0	0
UBASH3B	84959	broad.mit.edu	37	11	122669667	122669667	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:122669667A>T	ENST00000284273.5	+	10	1750	c.1375A>T	c.(1375-1377)Agc>Tgc	p.S459C		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	459	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CTTATTAGAGAGCAATACCAT	0.458000													8	58					0	0	1	0	0
PDS5B	23047	broad.mit.edu	37	13	33327591	33327591	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr13:33327591A>G	ENST00000315596.10	+	25	3044	c.2858A>G	c.(2857-2859)gAg>gGg	p.E953G		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	953					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CCTGTAAAGGAGAGAAGAGCT	0.428000													18	83					0	0	1	0	0
RASGEF1A	221002	broad.mit.edu	37	10	43695206	43695206	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr10:43695206T>C	ENST00000395809.1	-	7	3273	c.767A>G	c.(766-768)gAc>gGc	p.D256G	RASGEF1A_ENST00000395810.1_Missense_Mutation_p.D256G|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.D264G			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	256	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CTTGGTCAGGTCCCCTCGGCA	0.612000													8	19					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6690929	6690929	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr12:6690929C>G	ENST00000309577.6	-	30	4814	c.4651G>C	c.(4651-4653)Gag>Cag	p.E1551Q	CHD4_ENST00000544040.1_Missense_Mutation_p.E1516Q|CHD4_ENST00000544484.1_Missense_Mutation_p.E1548Q|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000357008.2_Missense_Mutation_p.E1523Q			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1523					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCCTCCACCTCAGCCAGTTCA	0.547000													59	113					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700543	136700543	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr7:136700543T>A	ENST00000445907.2	+	3	1459	c.931T>A	c.(931-933)Tcc>Acc	p.S311T	CHRM2_ENST00000402486.3_Missense_Mutation_p.S311T|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.S311T|CHRM2_ENST00000397608.3_Missense_Mutation_p.S311T|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.S311T|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.S311T|hsa-mir-490_ENST00000597642.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	311					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AGTTTCCACTTCCCTGGGCCA	0.458000													41	91					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119216952	119216952	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:119216952C>A	ENST00000296498.3	-	10	2179	c.1897G>T	c.(1897-1899)Ggt>Tgt	p.G633C	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	633	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TTTTTCCCACCAATGATCCGC	0.363000													10	92					1.5842e-08	1.65148e-08	1	1	0
GABRG2	2566	broad.mit.edu	37	5	161580153	161580153	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr5:161580153A>G	ENST00000356592.3	+	10	1667	c.1207A>G	c.(1207-1209)Aca>Gca	p.T403A	GABRG2_ENST00000361925.4_Missense_Mutation_p.T395A|GABRG2_ENST00000393933.4_Missense_Mutation_p.T300A|GABRG2_ENST00000414552.2_Missense_Mutation_p.T443A	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	395					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GAATAATGCTACACACCTTCA	0.483000													23	79					0	0	1	0	0
ACTR10	55860	broad.mit.edu	37	14	58701256	58701256	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr14:58701256C>T	ENST00000254286.4	+	13	1321	c.1241C>T	c.(1240-1242)tCc>tTc	p.S414F		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	414						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						AGAGCATTTTCCACTGAGAAA	0.353000													24	48					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308574	248308574	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:248308574A>G	ENST00000366476.1	+	1	125	c.125A>G	c.(124-126)aAc>aGc	p.N42S		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N42S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			TTCATGGGAAACTCTGTCATG	0.522000													95	314					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36198255	36198255	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr6:36198255G>A	ENST00000357641.6	+	13	3740	c.3487G>A	c.(3487-3489)Gac>Aac	p.D1163N	BRPF3_ENST00000339717.7_Missense_Mutation_p.D893N|BRPF3_ENST00000543502.1_Missense_Mutation_p.D893N|BRPF3_ENST00000443324.2_Missense_Mutation_p.D829N|BRPF3_ENST00000534694.1_Missense_Mutation_p.D829N|BRPF3_ENST00000534400.1_3'UTR	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1163					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						AGACACCGTGGACAAGCTCAA	0.592000													19	34					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26706761	26706761	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr22:26706761A>G	ENST00000529632.2	+	7	1836	c.1640A>G	c.(1639-1641)gAc>gGc	p.D547G	SEZ6L_ENST00000403121.1_Missense_Mutation_p.D320G|SEZ6L_ENST00000343706.4_Missense_Mutation_p.D547G|SEZ6L_ENST00000248933.6_Missense_Mutation_p.D547G|SEZ6L_ENST00000360929.3_Missense_Mutation_p.D547G|SEZ6L_ENST00000402979.1_Missense_Mutation_p.D320G|SEZ6L_ENST00000404234.3_Missense_Mutation_p.D547G	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	547	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TTCACGTCCGACCAGGCCCGG	0.597000													29	80					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43777471	43777471	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:43777471A>G	ENST00000372476.3	+	10	1542	c.1463A>G	c.(1462-1464)gAc>gGc	p.D488G	TIE1_ENST00000433781.2_Missense_Mutation_p.D133G	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	488	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGCCCCAGGACAGTACCATG	0.602000													34	80					0	0	1	0	0
ECD	11319	broad.mit.edu	37	10	74916341	74916341	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr10:74916341T>C	ENST00000372979.4	-	4	602	c.396A>G	c.(394-396)gaA>gaG	p.E132E	ECD_ENST00000454759.2_Silent_p.E132E|ECD_ENST00000430082.2_Silent_p.E132E	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	132					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TGGTGCTATTTTCAGGATCCA	0.368000													46	73					0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8200577	8200577	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr12:8200577A>C	ENST00000162391.3	+	7	2062	c.917A>C	c.(916-918)cAg>cCg	p.Q306P	FOXJ2_ENST00000428177.2_Missense_Mutation_p.Q306P	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	306	Poly-Gln.				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		cagcagcagcagcCGCCACAG	0.642000													4	61					0	0	1	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125232178	125232178	+	RNA	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr6:125232178A>G	ENST00000439075.1	-	0	2567					NR_026876.1																						AGGGCGGTCTAAAAGTAGAAA	0.363000													13	21					0	0	1	0	0
RHOXF2B	727940	broad.mit.edu	37	X	119210891	119210891	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:119210891C>T	ENST00000371402.2	-	2	631	c.442G>A	c.(442-444)Gag>Aag	p.E148K	RP4-755D9.1_ENST00000553843.1_RNA	NM_001099685.1	NP_001093155.1	P0C7M4	RHF2B_HUMAN	Rhox homeobox family, member 2B	148						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|skin(3)|upper_aerodigestive_tract(1)	7						CACTCCAGCTCCTGCAGCTGC	0.657000													7	40					0	0	1	0	0
UCP2	7351	broad.mit.edu	37	11	73688958	73688958	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:73688958T>C	ENST00000310473.3	-	4	1152	c.310A>G	c.(310-312)Aaa>Gaa	p.K104E	UCP2_ENST00000536983.1_Missense_Mutation_p.K104E	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	104					proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					TAGAACTGTTTGACAGAATCA	0.547000													33	78					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78264488	78264488	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:78264488C>T	ENST00000582970.1	+	7	1375	c.1232C>T	c.(1231-1233)tCa>tTa	p.S411L	RNF213_ENST00000508628.2_Missense_Mutation_p.S460L|RNF213_ENST00000319921.4_Missense_Mutation_p.S411L|RNF213_ENST00000456466.1_Missense_Mutation_p.S411L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	411										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTTGGGGAGTCAAAATGGGAC	0.507000													27	59					0	0	1	0	0
GPI	2821	broad.mit.edu	37	19	34890215	34890215	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:34890215A>T	ENST00000415930.3	+	15	1576	c.1406A>T	c.(1405-1407)gAc>gTc	p.D469V	GPI_ENST00000586425.1_Missense_Mutation_p.D458V|GPI_ENST00000356487.5_Missense_Mutation_p.D458V	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	458					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					AGTCCAGAGGACCTTGAGAGG	0.597000													16	53					0	0	1	0	0
PQLC3	130814	broad.mit.edu	37	2	11304369	11304369	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:11304369G>C	ENST00000295083.3	+	4	511	c.336G>C	c.(334-336)tgG>tgC	p.W112C	PQLC3_ENST00000441908.2_Missense_Mutation_p.W112C|PQLC3_ENST00000402361.1_Missense_Mutation_p.W112C|PQLC3_ENST00000476787.1_Intron	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	112						integral to membrane				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		TGCAGAAGTGGATCATAGACC	0.438000													14	36					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12980042	12980042	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:12980042T>A	ENST00000251472.4	+	22	2975	c.2936T>A	c.(2935-2937)tTc>tAc	p.F979Y		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	979	PDZ.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AAGTATGGCTTCACACTGCGT	0.582000													7	67					0	0	1	0	0
CHURC1	91612	broad.mit.edu	37	14	65392727	65392727	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr14:65392727G>A	ENST00000607599.1	+	3	313	c.259G>A	c.(259-261)Gat>Aat	p.D87N	FNTB_ENST00000542227.1_Intron|CHURC1_ENST00000552002.2_Splice_Site|CHURC1-FNTB_ENST00000549987.1_Splice_Site|CHURC1_ENST00000548752.2_Intron|CHURC1_ENST00000549115.1_Splice_Site|FNTB_ENST00000447296.2_Splice_Site|CHURC1_ENST00000359118.2_Missense_Mutation_p.D60N	NM_001204063.1|NM_145165.3	NP_001190992.1|NP_660148.3			churchill domain containing 1											breast(1)|pancreas(1)	2				all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976)		TGTTTTAGCAGATTTGTGTAA	0.264000													63	136					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179442546	179442546	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:179442546A>G	ENST00000589042.1	-	323	68831	c.68607T>C	c.(68605-68607)ggT>ggC	p.G22869G	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.G13929G|TTN_ENST00000460472.2_Silent_p.G13804G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.G21228G|TTN_ENST00000342992.6_Silent_p.G20301G|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.G13996G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21228	Ig-like 117.						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)			ACTTATGACCACCGTCATATT	0.393000													20	49					0	0	1	0	0
CASP5	838	broad.mit.edu	37	11	104872867	104872867	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:104872867T>A	ENST00000393141.2	-	5	675	c.644A>T	c.(643-645)aAg>aTg	p.K215M	CASP5_ENST00000531367.1_Missense_Mutation_p.K60M|CASP5_ENST00000260315.3_Missense_Mutation_p.K202M|CASP5_ENST00000526056.1_Missense_Mutation_p.K215M|CASP5_ENST00000393139.2_Missense_Mutation_p.K132N|CASP5_ENST00000444749.2_Missense_Mutation_p.K144M|CASP5_ENST00000418434.1_Missense_Mutation_p.K60M	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	202					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GTGATCAAACTTTGTATTGCA	0.478000													27	81					0	0	1	0	0
ZNF286A	57335	broad.mit.edu	37	17	15619526	15619526	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:15619526A>T	ENST00000464847.2	+	5	1041	c.488A>T	c.(487-489)gAg>gTg	p.E163V	ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Missense_Mutation_p.E163V|ZNF286A_ENST00000413242.2_Missense_Mutation_p.E163V|ZNF286A_ENST00000472486.1_3'UTR|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000421016.1_Missense_Mutation_p.E163V|ZNF286A_ENST00000593105.1_Missense_Mutation_p.E153V			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		AATTGGTTAGAGAATCAGCAA	0.388000													29	101					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212426722	212426722	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:212426722A>G	ENST00000342788.4	-	20	2703	c.2393T>C	c.(2392-2394)cTt>cCt	p.L798P	ERBB4_ENST00000402597.1_Missense_Mutation_p.L788P|ERBB4_ENST00000436443.1_Missense_Mutation_p.L798P	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	798	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)		ATGGGGCATAAGTTGAGTAAC	0.493000										TSP Lung(8;0.080)			23	85					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85445189	85445189	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:85445189G>A	ENST00000316356.4	-	7	1747	c.1183C>T	c.(1183-1185)Caa>Taa	p.Q395*	SYTL2_ENST00000389960.4_Nonsense_Mutation_p.Q394*|SYTL2_ENST00000528231.1_Nonsense_Mutation_p.Q394*|SYTL2_ENST00000527523.1_Nonsense_Mutation_p.Q346*|SYTL2_ENST00000524452.1_Nonsense_Mutation_p.Q394*			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	394					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GAGGTTGATTGATGAAAAAGC	0.398000													12	91					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57101356	57101356	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr16:57101356G>C	ENST00000436936.1	+	35	4605	c.4380G>C	c.(4378-4380)gaG>gaC	p.E1460D	NLRC5_ENST00000262510.6_Missense_Mutation_p.E1460D|NLRC5_ENST00000539144.1_Missense_Mutation_p.E1431D|NLRC5_ENST00000308149.7_Missense_Mutation_p.E1431D			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1460					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGCTGATGGAGACATGTGCCA	0.582000													21	50					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74319522	74319522	+	Silent	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr9:74319522G>C	ENST00000377044.4	-	18	3722	c.3183C>G	c.(3181-3183)gtC>gtG	p.V1061V	TMEM2_ENST00000377066.5_Silent_p.V998V|TMEM2_ENST00000396272.3_Silent_p.V54V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1061						integral to membrane		p.V1061V(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGTTGAAGTTGACGAGGTATA	0.433000													20	72					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10602124	10602124	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:10602124A>G	ENST00000547195.1	-	19	2600	c.2100T>C	c.(2098-2100)ggT>ggC	p.G700G	MRVI1_ENST00000552103.1_Silent_p.G700G|MRVI1_ENST00000436272.1_Silent_p.G764G|MRVI1_ENST00000531107.1_Silent_p.G783G|MRVI1_ENST00000527509.2_Silent_p.G700G|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000423302.2_Silent_p.G791G|MRVI1_ENST00000541483.1_Silent_p.G585G|MRVI1_ENST00000534266.2_Silent_p.G476G|MRVI1_ENST00000545852.1_Silent_p.G476G|MRVI1_ENST00000424001.1_Silent_p.G476G|MRVI1_ENST00000558540.1_Silent_p.G476G|MRVI1_ENST00000421747.1_Silent_p.G782G	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	764					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCTTCTTTAGACCTTCTTGGA	0.498000													44	91					0	0	1	0	0
KRTAP17-1	83902	broad.mit.edu	37	17	39471729	39471729	+	Nonsense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:39471729A>T	ENST00000334202.3	-	1	218	c.174T>A	c.(172-174)tgT>tgA	p.C58*		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	58						intermediate filament				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			agccagatccacagcaagacg	0.706000													8	21					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66931403	66931403	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:66931403A>T	ENST00000374690.3	+	4	2569	c.2045A>T	c.(2044-2046)gAg>gTg	p.E682V	AR_ENST00000396043.2_Missense_Mutation_p.E150V|AR_ENST00000396044.3_Missense_Mutation_p.E682V	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	681	Interaction with MYST2.		P -> T (in PAIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GAAGCCATTGAGCCAGGTGTA	0.527000									Androgen Insensitivity Syndrome				4	31					0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53216952	53216952	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr12:53216952C>G	ENST00000330553.5	-	7	1249	c.1215G>C	c.(1213-1215)caG>caC	p.Q405H		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	405	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAAGCTTCTTCTGAGCATCCT	0.617000													8	71					0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27457430	27457430	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr8:27457430A>T	ENST00000316403.10	-	7	1436	c.1031T>A	c.(1030-1032)cTg>cAg	p.L344Q	CLU_ENST00000560366.1_Missense_Mutation_p.L396Q|CLU_ENST00000546343.1_Missense_Mutation_p.L355Q|CLU_ENST00000405140.3_Missense_Mutation_p.L344Q|CLU_ENST00000523500.1_Missense_Mutation_p.L344Q			P10909	CLUS_HUMAN	clusterin	344					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GGACTTTAGCAGCTCGTTGTA	0.572000													10	23					0	0	1	0	0
NEDD8	4738	broad.mit.edu	37	14	24686377	24686377	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr14:24686377G>A	ENST00000250495.5	-	4	388	c.202C>T	c.(202-204)Cac>Tac	p.H68Y	NEDD8-MDP1_ENST00000604306.1_Intron|NEDD8-MDP1_ENST00000534348.1_Intron	NM_006156.2	NP_006147.1			neural precursor cell expressed, developmentally down-regulated 8											breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		AACACCAGGTGAAGGACTGAA	0.448000													15	21					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43712518	43712518	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr15:43712518C>T	ENST00000263801.3	-	21	4903	c.4651G>A	c.(4651-4653)Gag>Aag	p.E1551K	TP53BP1_ENST00000450115.2_Missense_Mutation_p.E1556K|TP53BP1_ENST00000382039.3_Missense_Mutation_p.E1506K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.E1556K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1551					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTGAAATACTCATCCTCCGAG	0.438000								Other conserved DNA damage response genes					88	215					0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68882225	68882225	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:68882225C>T	ENST00000303786.3	+	3	1119	c.699C>T	c.(697-699)ttC>ttT	p.F233F	PROKR1_ENST00000394342.2_Silent_p.F233F			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	233						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGTCCTACTTCCTCTTTATCT	0.557000													14	119					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47676474	47676474	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:47676474A>T	ENST00000273857.4	-	10	1292	c.1293T>A	c.(1291-1293)aaT>aaA	p.N431K	CORIN_ENST00000508498.1_Missense_Mutation_p.N292K|CORIN_ENST00000502252.1_Missense_Mutation_p.N364K|CORIN_ENST00000504584.1_Missense_Mutation_p.N394K|CORIN_ENST00000505909.1_Missense_Mutation_p.N394K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	431					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CAAGGCAGGGATTGTAGAGGC	0.438000													41	107					0	0	1	0	0
MEF2B	100271849	broad.mit.edu	37	19	19258614	19258614	+	Missense_Mutation	SNP	C	C	G	rs138148108		TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:19258614C>G	ENST00000602424.2	-	6	1012	c.286G>C	c.(286-288)Gat>Cat	p.D96H	MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000162023.5_Missense_Mutation_p.D96H|MEF2B_ENST00000424583.2_Missense_Mutation_p.D96H|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.D113H|MEF2B_ENST00000410050.1_Missense_Mutation_p.D96H|MEF2B_ENST00000409224.1_Missense_Mutation_p.D99H|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.D96H|MEF2B_ENST00000409447.2_Missense_Mutation_p.D96H	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TCTGGCCCATCGAGGCCAATG	0.647000													20	55					0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86198550	86198550	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr12:86198550G>T	ENST00000361228.3	-	2	1606	c.1238C>A	c.(1237-1239)aCt>aAt	p.T413N		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	413					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTGATACCAGTGTCCGAGTC	0.453000													18	43					9.16793e-09	9.59434e-09	1	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118351365	118351365	+	Silent	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr10:118351365T>A	ENST00000528052.1	+	3	203	c.132T>A	c.(130-132)atT>atA	p.I44I	PNLIPRP1_ENST00000442761.1_Silent_p.I44I|PNLIPRP1_ENST00000358834.4_Silent_p.I44I|PNLIPRP1_ENST00000534537.1_Silent_p.I44I|PNLIPRP1_ENST00000480870.2_3'UTR			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	44					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CCCTGAAAATTCTCCCCTGGA	0.498000													69	105					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43313566	43313566	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr15:43313566T>C	ENST00000290650.4	-	27	2925	c.2847A>G	c.(2845-2847)ggA>ggG	p.G949G	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	949					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGGCTGAACTTCCCAATCCTT	0.383000													32	52					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104037810	104037810	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:104037810C>T	ENST00000265148.3	-	45	7455	c.7366G>A	c.(7366-7368)Gaa>Aaa	p.E2456K	CENPE_ENST00000380026.3_Missense_Mutation_p.E2335K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2456	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCTTCAATTTCTTCTTTATAT	0.289000													4	14					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40392002	40392002	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:40392002C>T	ENST00000406785.2	-	5	2242	c.2053G>A	c.(2053-2055)Gaa>Aaa	p.E685K	SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E685K|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E685K|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E713K|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.E721K|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E721K|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E716K|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E685K|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.E716K|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E685K			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1						cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACCTTGAATTCATAGGATTCT	0.512000													18	188					0	0	1	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013297	149013297	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:149013297A>T	ENST00000535454.1	+	4	800	c.251A>T	c.(250-252)gAt>gTt	p.D84V	MAGEA8_ENST00000493910.1_3'UTR|MAGEA8_ENST00000542674.1_Missense_Mutation_p.D84V|MAGEA8_ENST00000286482.1_Missense_Mutation_p.D84V	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	84										NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCAATCCGATGAGGGTTCC	0.597000													15	123					0	0	1	0	0
ZNF146	7705	broad.mit.edu	37	19	36727606	36727606	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:36727606T>C	ENST00000456324.1	+	3	1713	c.264T>C	c.(262-264)ctT>ctC	p.L88L	ZNF146_ENST00000443387.2_Silent_p.L88L|ZNF565_ENST00000355114.5_Intron	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	88					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					AAAACCTCCTTACGCACCAGA	0.398000													44	120					0	0	1	0	0
SGPP1	81537	broad.mit.edu	37	14	64152824	64152824	+	Nonstop_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr14:64152824C>G	ENST00000247225.6	-	3	1419	c.1325G>C	c.(1324-1326)tGa>tCa	p.*442S		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	0						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		ACTTCTCCATCAAGAGATACC	0.348000													7	8					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77711737	77711737	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:77711737A>G	ENST00000328313.5	+	5	1490	c.1269A>G	c.(1267-1269)ggA>ggG	p.G423G		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	423					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGCCTGATGGAAGGCCTACTC	0.607000													20	96					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131023520	131023520	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr9:131023520C>T	ENST00000421699.2	-	16	1282	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	GOLGA2_ENST00000609374.1_Missense_Mutation_p.E412K	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	424						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CATTCCTTCTCCTCTCTCAAT	0.607000													49	133					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38773318	38773318	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr6:38773318A>C	ENST00000359357.3	+	21	2699	c.2445A>C	c.(2443-2445)gaA>gaC	p.E815D	DNAH8_ENST00000441566.1_Missense_Mutation_p.E815D|DNAH8_ENST00000449981.2_Missense_Mutation_p.E1032D					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGACTATGAAGCTAATATTG	0.308000													15	42					0	0	1	0	0
TNNC1	7134	broad.mit.edu	37	3	52486514	52486514	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr3:52486514C>A	ENST00000232975.3	-	2	94	c.40G>T	c.(40-42)Gaa>Taa	p.E14*		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	14					cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	TTCTGCTCTTCTGTCAGCTGC	0.537000													6	17					0.00198382	0.00201744	1	1	0
MESP2	145873	broad.mit.edu	37	15	90321349	90321349	+	Silent	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr15:90321349G>C	ENST00000341735.3	+	2	978	c.978G>C	c.(976-978)ctG>ctC	p.L326L	MESP2_ENST00000558723.1_3'UTR|MESP2_ENST00000560219.1_Silent_p.L28L	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	326					Notch signaling pathway	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			CATCTCTCCTGCCCCACCCAT	0.627000													8	47					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216498866	216498866	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:216498866G>C	ENST00000366943.2	-	6	1310	c.924C>G	c.(922-924)caC>caG	p.H308Q	USH2A_ENST00000307340.3_Missense_Mutation_p.H308Q|USH2A_ENST00000366942.3_Missense_Mutation_p.H308Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	308	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGACCCGCGGGTGGCTGCCAG	0.532000										HNSCC(13;0.011)			15	92					0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891510	6891510	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:6891510C>T	ENST00000307322.4	+	1	587	c.525C>T	c.(523-525)gtC>gtT	p.V175V		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGAGGCTGGTCTGTGCAGACA	0.507000													38	136					0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72629560	72629560	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:72629560G>T	ENST00000273951.8	-	5	910	c.567C>A	c.(565-567)tgC>tgA	p.C189*	GC_ENST00000513476.1_Nonsense_Mutation_p.C189*|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Nonsense_Mutation_p.C208*	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	189	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	CAGAGGTACAGCAGGACCCTA	0.373000													21	670					1.64113e-05	1.69448e-05	1	1	0
TBC1D3P5	440419	broad.mit.edu	37	17	25753578	25753578	+	RNA	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:25753578T>C	ENST00000586223.1	+	0	1588					NR_033892.1																						CCTTTAAGGTTCAGAGGAGCA	0.562000													18	51					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73551119	73551119	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr15:73551119G>A	ENST00000339362.5	+	15	2552	c.2105G>A	c.(2104-2106)gGg>gAg	p.G702E	NEO1_ENST00000261908.6_Missense_Mutation_p.G702E|NEO1_ENST00000558964.1_Missense_Mutation_p.G702E|NEO1_ENST00000560262.1_Missense_Mutation_p.G702E			Q92859	NEO1_HUMAN	neogenin 1	702	Fibronectin type-III 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTTGATCGGGGGACTGAGTAT	0.428000													13	62					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48586017	48586017	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:48586017C>T	ENST00000323776.5	+	1	273	c.111C>T	c.(109-111)ttC>ttT	p.F37F	MYCBPAP_ENST00000436259.2_5'UTR|MYCBPAP_ENST00000419930.1_Silent_p.F37F	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	0					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GGCAACGTTTCATGGTGCCGG	0.632000													3	11					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33291676	33291676	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr14:33291676A>G	ENST00000280979.4	+	13	4827	c.4657A>G	c.(4657-4659)Atg>Gtg	p.M1553V	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1553					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATTCACTGGCATGCAGAATGC	0.403000													47	106					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75387466	75387466	+	Silent	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr9:75387466C>G	ENST00000297784.5	+	13	1419	c.879C>G	c.(877-879)ctC>ctG	p.L293L	TMC1_ENST00000396237.3_Silent_p.L293L|TMC1_ENST00000340019.3_Silent_p.L293L	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	293					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TGGTTGTCCTCAAAGCGTAAG	0.363000													43	145					0	0	1	0	0
PFKM	5213	broad.mit.edu	37	12	48528778	48528778	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr12:48528778T>C	ENST00000340802.6	+	11	1237	c.1013T>C	c.(1012-1014)aTt>aCt	p.I338T	PFKM_ENST00000551804.1_Missense_Mutation_p.I267T|PFKM_ENST00000312352.7_Missense_Mutation_p.I267T|PFKM_ENST00000359794.5_Missense_Mutation_p.I267T|PFKM_ENST00000395233.2_Missense_Mutation_p.I267T|PFKM_ENST00000547587.1_Missense_Mutation_p.I267T	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	267					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GAGGGTGCAATTGACAAGAAT	0.463000													20	58					0	0	1	0	0
CLEC7A	64581	broad.mit.edu	37	12	10277901	10277901	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr12:10277901C>T	ENST00000353231.5	-	3	507	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	CLEC7A_ENST00000396484.2_Missense_Mutation_p.E84K|CLEC7A_ENST00000533022.1_Missense_Mutation_p.E163K|CLEC7A_ENST00000304084.8_Missense_Mutation_p.E163K|CLEC7A_ENST00000298523.5_Missense_Mutation_p.E117K	NM_022570.4	NP_072092.2	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	163					carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						CTTACCAATTCATTTGAGCTG	0.388000													28	59					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81381465	81381465	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr7:81381465T>A	ENST00000222390.5	-	5	822	c.596A>T	c.(595-597)gAa>gTa	p.E199V	HGF_ENST00000457544.2_Missense_Mutation_p.E194V|HGF_ENST00000423064.2_Missense_Mutation_p.E199V|HGF_ENST00000453411.1_Missense_Mutation_p.E194V|HGF_ENST00000444829.2_Missense_Mutation_p.E199V	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	199	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GTCACAGACTTCGTAGCGTAC	0.468000													10	62					0	0	1	0	0
HOXD12	3238	broad.mit.edu	37	2	176964998	176964998	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:176964998C>T	ENST00000406506.2	+	1	541	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	HOXD12_ENST00000404162.2_Missense_Mutation_p.P157S			P35452	HXD12_HUMAN	homeobox D12	157						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCAGGGGGCTCCCTGCGCCCC	0.657000													20	38					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65274960	65274960	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:65274960G>A	ENST00000381210.3	-	1	220	c.110C>T	c.(109-111)tCa>tTa	p.S37L	TECRL_ENST00000507440.1_Missense_Mutation_p.S37L	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	37					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TACAAGTTTTGACAAAAAGTG	0.423000													20	54					0	0	1	0	0
POU3F2	5454	broad.mit.edu	37	6	99283810	99283810	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr6:99283810A>C	ENST00000328345.5	+	1	1231	c.1061A>C	c.(1060-1062)aAg>aCg	p.K354T		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	354					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		CAAGGGCGCAAGCGGAAAAAG	0.602000													29	57					0	0	1	0	0
ABR	29	broad.mit.edu	37	17	973249	973249	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:973249C>T	ENST00000544583.2	-	9	1437	c.838G>A	c.(838-840)Gat>Aat	p.D280N	ABR_ENST00000291107.2_Missense_Mutation_p.D289N|ABR_ENST00000536794.2_Missense_Mutation_p.D108N|ABR_ENST00000574437.1_Missense_Mutation_p.D280N|ABR_ENST00000302538.5_Missense_Mutation_p.D326N	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	326	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		AGTAGGACATCTGTAAAGAGG	0.627000													14	39					0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810690	65810690	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:65810690T>C	ENST00000312006.4	-	3	865	c.584A>G	c.(583-585)gAg>gGg	p.E195G	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.E195G	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	195					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GGCGAAGTGCTCGCCAGCGCG	0.682000													13	60					0	0	1	0	0
FAM19A4	151647	broad.mit.edu	37	3	68802143	68802143	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr3:68802143A>T	ENST00000295569.7	-	4	649	c.157T>A	c.(157-159)Tgt>Agt	p.C53S		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	53						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		ACCACCTCACAGGTCCCTTGC	0.522000													6	52					0	0	1	0	0
TMEM144	55314	broad.mit.edu	37	4	159161505	159161505	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:159161505A>G	ENST00000296529.6	+	10	1257	c.737A>G	c.(736-738)tAc>tGc	p.Y246C	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	246						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		AGTACTGTCTACTTTCTGGCC	0.358000													11	53					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149754600	149754600	+	Silent	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr5:149754600A>T	ENST00000451292.1	+	10	1470	c.1362A>T	c.(1360-1362)gcA>gcT	p.A454A	TCOF1_ENST00000394269.3_Silent_p.A454A|TCOF1_ENST00000377797.3_Silent_p.A454A|TCOF1_ENST00000323668.7_Silent_p.A377A|TCOF1_ENST00000439160.2_Silent_p.A454A|TCOF1_ENST00000445265.2_Silent_p.A377A|TCOF1_ENST00000513346.1_Silent_p.A454A|TCOF1_ENST00000504761.2_Silent_p.A454A			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	454					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCCCCAGCACCTCCTAGGA	0.652000													21	30					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63410907	63410907	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:63410907G>A	ENST00000330258.3	-	2	2532	c.2260C>T	c.(2260-2262)Cca>Tca	p.P754S	AMER1_ENST00000374869.3_Missense_Mutation_p.P754S|AMER1_ENST00000403336.1_Missense_Mutation_p.P754S	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TCTTCCTCTGGATCTTCAGGG	0.512000													13	47					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39408737	39408737	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:39408737T>A	ENST00000257408.4	+	1	265	c.168T>A	c.(166-168)gaT>gaA	p.D56E		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	56					carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TCTCTGGAGATGGAAGAGCTA	0.413000													32	90					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50053611	50053611	+	Silent	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:50053611T>A	ENST00000376042.1	+	6	2740	c.2442T>A	c.(2440-2442)gcT>gcA	p.A814A	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.A814A|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	814					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGAAGGAAGCTGTCCTCAAGG	0.567000													5	47					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110441559	110441559	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:110441559A>G	ENST00000265175.5	+	12	2219	c.2164A>G	c.(2164-2166)Acc>Gcc	p.T722A	SEC24B_ENST00000399100.2_Missense_Mutation_p.T687A|SEC24B_ENST00000504968.2_Missense_Mutation_p.T752A	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	722					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGGATTCATGACCTTTGATAG	0.318000													9	57					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32689802	32689802	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:32689802G>A	ENST00000421745.2	+	25	5301	c.5167G>A	c.(5167-5169)Gaa>Aaa	p.E1723K		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1723					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GATTAATGCCGAACTTGCACA	0.433000													4	102					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107434861	107434861	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr7:107434861G>T	ENST00000340010.5	-	2	278	c.94C>A	c.(94-96)Cat>Aat	p.H32N	SLC26A3_ENST00000422236.2_Silent_p.I13I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	32					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AATGTCTTATGATGTCTTCCT	0.338000													14	93					1.5842e-08	1.65148e-08	1	1	0
AR	367	broad.mit.edu	37	X	66765170	66765170	+	Missense_Mutation	SNP	A	A	T	rs62636528		TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:66765170A>T	ENST00000374690.3	+	1	706	c.182A>T	c.(181-183)cAg>cTg	p.Q61L	AR_ENST00000396044.3_Missense_Mutation_p.Q61L|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.Q61L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	61	Gln-rich.|Modulating.|Poly-Gln.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	cagcagcagcagcagcagcag	0.677000									Androgen Insensitivity Syndrome				4	46					0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129743685	129743685	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:129743685C>G	ENST00000446488.3	-	21	2608	c.2505G>C	c.(2503-2505)caG>caC	p.Q835H	NFRKB_ENST00000524794.1_Missense_Mutation_p.Q860H|NFRKB_ENST00000304521.5_Missense_Mutation_p.Q835H|NFRKB_ENST00000524746.1_Missense_Mutation_p.Q835H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	835					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GAACCCGGATCTGCGGTCCTG	0.622000													17	107					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38132086	38132086	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr21:38132086C>G	ENST00000399120.1	-	10	2967	c.1737G>C	c.(1735-1737)aaG>aaC	p.K579N	HLCS_ENST00000336648.4_Missense_Mutation_p.K579N	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	579					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CTCCGCCGATCTTCATGAGGT	0.378000													36	87					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:7577099C>G	ENST00000420246.2	-	8	971	c.839G>C	c.(838-840)aGa>aCa	p.R280T	TP53_ENST00000269305.4_Missense_Mutation_p.R280T|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R280T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCCGGTCTCTCCCAGGACA	0.542000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	33					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885587	88885587	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr8:88885587A>G	ENST00000319675.3	-	1	709	c.613T>C	c.(613-615)Tct>Cct	p.S205P		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	205										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ACCTGCTGAGACAAGCCTGTA	0.552000													48	128					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	by1000genomes	TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr22:18778612C>T	ENST00000412448.1	-	0	793																											GCGGCCACGGCAGCCCTGGTG	0.637000													11	17					0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	619084	619084	+	Silent	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:619084G>A	ENST00000588649.2	-	15	3264	c.3180C>T	c.(3178-3180)ctC>ctT	p.L1060L		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1060	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGGGAGATGAGGCGGGCAC	0.657000													6	46					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124740560	124740560	+	Silent	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:124740560G>A	ENST00000397801.1	+	6	1161	c.969G>A	c.(967-969)acG>acA	p.T323T	ROBO3_ENST00000538940.1_Silent_p.T301T	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	323	Ig-like C2-type 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ATGAGGGAACGTACACCTGTG	0.602000													9	23					0	0	1	0	0
HOOK3	84376	broad.mit.edu	37	8	42821720	42821720	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr8:42821720A>G	ENST00000307602.4	+	10	1084	c.884A>G	c.(883-885)gAa>gGa	p.E295G		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	295					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TTGGCAGATGAAGCTCAGTCT	0.453000			T	RET	papillary thyroid								46	119					0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810742	65810742	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:65810742C>T	ENST00000312006.4	-	3	813	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.A178T	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	178					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TCGAGCGAGGCGTTGGGTACG	0.662000													7	52					0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80159645	80159645	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:80159645T>C	ENST00000389641.4	-	2	212	c.176A>G	c.(175-177)tAc>tGc	p.Y59C	CCDC57_ENST00000392347.1_Missense_Mutation_p.Y59C|CCDC57_ENST00000392343.3_Missense_Mutation_p.Y59C			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	59										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTGAAGGTTGTAGACAAAGTC	0.677000													19	99					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362460	105362460	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr10:105362460C>A	ENST00000369774.4	-	15	2791	c.2515G>T	c.(2515-2517)Gaa>Taa	p.E839*	SH3PXD2A_ENST00000538130.1_Nonsense_Mutation_p.E674*|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Nonsense_Mutation_p.E706*|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Nonsense_Mutation_p.E811*			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	839					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GCTGGCCCTTCCCATTCCTTC	0.632000													31	61					1.30897e-18	1.40247e-18	1	1	0
NANOG	79923	broad.mit.edu	37	12	7942287	7942287	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr12:7942287C>A	ENST00000229307.4	+	1	296	c.77C>A	c.(76-78)cCt>cAt	p.P26H	NANOG_ENST00000526286.1_Missense_Mutation_p.P26H	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	26					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		TCACCTATGCCTGTGATTTGT	0.443000													8	177					0.00136819	0.00139401	1	1	0
ACTR5	79913	broad.mit.edu	37	20	37384545	37384545	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr20:37384545A>T	ENST00000243903.4	+	5	1076	c.1039A>T	c.(1039-1041)Ata>Tta	p.I347L		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	347					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CAAAGCTCTGATAGAGCTGAA	0.478000													31	73					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175365753	175365753	+	Silent	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:175365753G>A	ENST00000367674.2	-	5	1875	c.1167C>T	c.(1165-1167)ctC>ctT	p.L389L	TNR_ENST00000263525.2_Silent_p.L389L			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGTTGTAGGTGAGACCTGGCT	0.602000													14	55					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577505	7577505	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:7577505T>A	ENST00000420246.2	-	7	908	c.776A>T	c.(775-777)gAc>gTc	p.D259V	TP53_ENST00000269305.4_Missense_Mutation_p.D259V|TP53_ENST00000445888.2_Missense_Mutation_p.D259V|TP53_ENST00000359597.4_Missense_Mutation_p.D259V|TP53_ENST00000413465.2_Missense_Mutation_p.D259V|TP53_ENST00000455263.2_Missense_Mutation_p.D259V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	259	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.D259V(18)|p.0?(8)|p.D259G(4)|p.D259F(3)|p.D259fs*5(2)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGACCTGGAGTCTTCCAGTGT	0.587000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	51					0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52949566	52949566	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr14:52949566T>C	ENST00000281741.4	-	13	1597	c.1226A>G	c.(1225-1227)gAc>gGc	p.D409G	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	409	Thioredoxin.				cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TACTATGCTGTCAGAAGCCAT	0.368000													17	29					0	0	1	0	0
FRMD4B	23150	broad.mit.edu	37	3	69245516	69245516	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr3:69245516T>C	ENST00000542259.1	-	15	1413	c.962A>G	c.(961-963)gAg>gGg	p.E321G	FRMD4B_ENST00000398540.3_Missense_Mutation_p.E375G|FRMD4B_ENST00000478263.1_Missense_Mutation_p.E27G			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	375	FERM.					cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CATTGCAATCTCATCTAAACT	0.383000													23	139					0	0	1	0	0
NSG1	27065	broad.mit.edu	37	4	4411367	4411367	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:4411367T>C	ENST00000421177.2	+	8	2305	c.314T>C	c.(313-315)gTg>gCg	p.V105A	NSG1_ENST00000513555.1_Missense_Mutation_p.V105A|NSG1_ENST00000433139.2_Missense_Mutation_p.V105A|NSG1_ENST00000397958.1_Missense_Mutation_p.V105A|NSG1_ENST00000505246.1_Missense_Mutation_p.V105A|NSG1_ENST00000504171.1_Missense_Mutation_p.V66A|NSG1_ENST00000506380.1_Missense_Mutation_p.V105A																							GTCTACAAGGTGTACAAGTAT	0.607000													5	92					0	0	1	0	0
ACTR10	55860	broad.mit.edu	37	14	58678052	58678052	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr14:58678052C>T	ENST00000254286.4	+	5	465	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	129						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						AATGGCTCTTCTGACGCTTGG	0.403000													15	193					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117109057	117109057	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr9:117109057T>C	ENST00000307564.4	-	17	3567	c.3406A>G	c.(3406-3408)Aca>Gca	p.T1136A	AKNA_ENST00000223791.3_Missense_Mutation_p.T596A|AKNA_ENST00000374075.5_Missense_Mutation_p.T1055A|AKNA_ENST00000374079.4_Missense_Mutation_p.T81A|AKNA_ENST00000374088.3_Missense_Mutation_p.T1136A	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AATCTCTCTGTGGATTTACTA	0.493000													20	53					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086016	92086016	+	Silent	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:92086016G>T	ENST00000298047.6	+	1	755	c.738G>T	c.(736-738)gtG>gtT	p.V246V	FAT3_ENST00000525166.1_Silent_p.V96V|FAT3_ENST00000409404.2_Silent_p.V246V|FAT3_ENST00000541502.1_Silent_p.V246V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	246	Cadherin 2.				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)				ACAATGGAGTGAGCAGTACTG	0.408000										TCGA Ovarian(4;0.039)			60	145					3.57465e-26	3.86836e-26	1	1	0
TPP2	7174	broad.mit.edu	37	13	103268850	103268850	+	Splice_Site	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr13:103268850A>T	ENST00000376052.3	+	4	511	c.495A>T	c.(493-495)caA>caT	p.Q165H	TPP2_ENST00000376065.4_Splice_Site_p.Q165H			P29144	TPP2_HUMAN	tripeptidyl peptidase II	165					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTCTTCTCAAGTTGGTGCTA	0.398000													15	45					0	0	1	0	0
KIF5B	3799	broad.mit.edu	37	10	32324546	32324546	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr10:32324546G>A	ENST00000302418.4	-	10	1323	c.866C>T	c.(865-867)tCa>tTa	p.S289L		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	289	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GCCACCTAATGAATCTTGAAG	0.328000			T	"""RET, ALK"""	NSCLC								20	47					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:37868208C>T	ENST00000406381.2	+	10	1349	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			69	231					0	0	1	0	0
AHCYL1	10768	broad.mit.edu	37	1	110561035	110561035	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:110561035G>A	ENST00000369799.5	+	12	1531	c.1164G>A	c.(1162-1164)atG>atA	p.M388I	AHCYL1_ENST00000393614.4_Missense_Mutation_p.M341I|AHCYL1_ENST00000359172.3_Missense_Mutation_p.M341I	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	388	NAD binding (By similarity).				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		TGGATCGCATGAAAAACAGTT	0.443000													28	43					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45518260	45518260	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr21:45518260A>T	ENST00000291574.4	+	21	3366	c.3191A>T	c.(3190-3192)gAg>gTg	p.E1064V		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1064					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTGAAGGCTGAGATCTTTCCC	0.483000													44	180					0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24739200	24739200	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr14:24739200A>C	ENST00000399409.3	-	4	869	c.386T>G	c.(385-387)cTg>cGg	p.L129R	RABGGTA_ENST00000216840.6_Missense_Mutation_p.L129R|RABGGTA_ENST00000559586.1_5'UTR|RABGGTA_ENST00000560777.1_5'UTR	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	129					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		ACAGAGCTCCAGCTCTCGGGT	0.627000													11	21					0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79699185	79699185	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:79699185C>T	ENST00000538312.1	+	5	1481	c.1147C>T	c.(1147-1149)Cgt>Tgt	p.R383C	FAM46D_ENST00000308293.5_Missense_Mutation_p.R383C	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	383										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						ACTGCACTTTCGTGGATCAAA	0.403000													7	42					0	0	1	0	0
CORO7	79585	broad.mit.edu	37	16	4412729	4412729	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr16:4412729G>C	ENST00000251166.4	-	15	1431	c.1286C>G	c.(1285-1287)tCt>tGt	p.S429C	CORO7_ENST00000539968.1_Missense_Mutation_p.S209C|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.S429C|CORO7_ENST00000574025.1_Missense_Mutation_p.S344C|CORO7_ENST00000537233.2_Missense_Mutation_p.S411C|CORO7_ENST00000423908.2_Missense_Mutation_p.S261C	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GGGAGGGGAAGAGAAACCCTC	0.667000													4	9					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19430583	19430583	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:19430583G>C	ENST00000375267.2	-	87	12899	c.12896C>G	c.(12895-12897)aCc>aGc	p.T4299S	UBR4_ENST00000375224.1_Missense_Mutation_p.T6S|UBR4_ENST00000375226.2_Missense_Mutation_p.T4275S|UBR4_ENST00000375254.3_Missense_Mutation_p.T4299S|UBR4_ENST00000375217.2_Missense_Mutation_p.T4292S			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4299					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCTACCTGTGGTCATGTCCTC	0.582000													22	105					0	0	1	0	0
ALG5	29880	broad.mit.edu	37	13	37559764	37559764	+	Splice_Site	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr13:37559764A>G	ENST00000239891.3	-	6	627	c.561T>C	c.(559-561)ccT>ccC	p.P187P	ALG5_ENST00000443765.1_Splice_Site_p.P157P|ALG5_ENST00000413537.2_Splice_Site_p.P187P	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	187					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TTATACTCACAGGCCAAGGCT	0.383000													13	45					0	0	1	0	0
SLU7	10569	broad.mit.edu	37	5	159835419	159835419	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr5:159835419C>T	ENST00000297151.4	-	8	1123	c.736G>A	c.(736-738)Gat>Aat	p.D246N		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	246					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGTCAATATCATCTGCATAT	0.373000													17	52					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98920260	98920260	+	Silent	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:98920260A>T	ENST00000477737.1	+	26	3720	c.3516A>T	c.(3514-3516)ccA>ccT	p.P1172P	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1172										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTGAGGATCCAGAAGTGTAAG	0.378000													20	52					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740297	37740297	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr9:37740297A>G	ENST00000539465.1	+	15	2365	c.1772A>G	c.(1771-1773)gAc>gGc	p.D591G	FRMPD1_ENST00000541302.1_Missense_Mutation_p.D460G|FRMPD1_ENST00000377765.3_Missense_Mutation_p.D591G|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.D413G			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	591						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GAGGCGTCCGACTCAGCCAAC	0.652000													16	41					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37154110	37154110	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr20:37154110C>T	ENST00000262879.6	+	12	2135	c.1851C>T	c.(1849-1851)atC>atT	p.I617I	RALGAPB_ENST00000397038.1_Silent_p.I395I|RALGAPB_ENST00000397042.3_Silent_p.I617I|RALGAPB_ENST00000397040.1_Silent_p.I617I			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	617					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCATTAATATCCTGCTTTCTT	0.318000													45	179					0	0	1	0	0
ERO1L	30001	broad.mit.edu	37	14	53119989	53119989	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr14:53119989G>A	ENST00000395686.3	-	12	1076	c.853C>T	c.(853-855)Caa>Taa	p.Q285*		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	285					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					AATCGCTGTTGAAATTCTGTA	0.318000													20	146					0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4721767	4721767	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr12:4721767C>A	ENST00000540757.2	+	12	1364	c.1204C>A	c.(1204-1206)Cag>Aag	p.Q402K	DYRK4_ENST00000543431.1_Missense_Mutation_p.Q402K|DYRK4_ENST00000545342.1_Missense_Mutation_p.Q39K|RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000010132.5_Missense_Mutation_p.Q402K	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	402						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q804E(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TTGGATTCATCAGTCTCGGAA	0.527000													52	144					5.57489e-27	6.04506e-27	1	1	0
CD1D	912	broad.mit.edu	37	1	158153756	158153756	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:158153756C>T	ENST00000368171.3	+	6	1416	c.917C>T	c.(916-918)gCc>gTc	p.A306V		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	306					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGCTTGATTGCCTTGGCAGTC	0.542000													36	227					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14543083	14543083	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr18:14543083C>T	ENST00000358970.5	-	1	62	c.63G>A	c.(61-63)agG>agA	p.R21R	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	21										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCATCTTGCTCCTGAGATCGA	0.562000													47	147					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932967	83932967	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr15:83932967C>G	ENST00000345382.2	-	4	1121	c.1036G>C	c.(1036-1038)Gag>Cag	p.E346Q	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.E339Q	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	346					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CTATTCCTCTCAGGCTTCACT	0.458000													13	75					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528872	20528872	+	Silent	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr14:20528872C>A	ENST00000315683.1	+	1	669	c.669C>A	c.(667-669)gtC>gtA	p.V223V		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCATCCTGGTCAGTGTACCAA	0.438000													22	129					3.7963e-18	4.0434e-18	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48318152	48318152	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr7:48318152C>T	ENST00000435803.1	+	18	7385	c.7361C>T	c.(7360-7362)aCg>aTg	p.T2454M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2454					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCTAATCTAACGGATTTGCTT	0.343000													28	121					0	0	1	0	0
ANGPTL3	27329	broad.mit.edu	37	1	63067473	63067473	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:63067473G>C	ENST00000371129.3	+	4	835	c.755G>C	c.(754-756)aGa>aCa	p.R252T	DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000340370.5_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	252	Fibrinogen C-terminal.				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						ATTTATAACAGAGGTGAACAT	0.358000													24	88					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17052151	17052151	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr3:17052151A>C	ENST00000418129.2	+	2	1400	c.935A>C	c.(934-936)aAc>aCc	p.N312T	PLCL2_ENST00000432376.1_Missense_Mutation_p.N312T|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.N312T	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	438					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TACTTTATAAACTCATCTCAT	0.388000													38	69					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149877504	149877504	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:149877504A>G	ENST00000369146.3	-	12	2463	c.1973T>C	c.(1972-1974)tTt>tCt	p.F658S	SV2A_ENST00000369145.1_Missense_Mutation_p.F658S	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	658					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GACCCCGCCAAAAAGGCAGAG	0.557000													52	137					0	0	1	0	0
SLC9B2	133308	broad.mit.edu	37	4	103988640	103988640	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:103988640G>T	ENST00000394785.3	-	2	699	c.68C>A	c.(67-69)cCc>cAc	p.P23H	SLC9B2_ENST00000503230.1_Missense_Mutation_p.P23H|SLC9B2_ENST00000339611.4_Missense_Mutation_p.P23H|SLC9B2_ENST00000505838.1_5'UTR|SLC9B2_ENST00000362026.3_Missense_Mutation_p.P23H|SLC9B2_ENST00000503103.1_Missense_Mutation_p.P23H	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	23					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										ATGCATGGAGGGCGTGTAATT	0.363000													7	54					0.000274275	0.000280509	1	1	0
DDX11	1663	broad.mit.edu	37	12	31240903	31240903	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr12:31240903G>C	ENST00000251758.5	+	7	1109	c.858G>C	c.(856-858)aaG>aaC	p.K286N	DDX11_ENST00000407793.2_Missense_Mutation_p.E224Q|DDX11_ENST00000542838.1_Missense_Mutation_p.E224Q|DDX11_ENST00000228264.6_Missense_Mutation_p.E198Q|DDX11_ENST00000545668.1_Missense_Mutation_p.E224Q|DDX11_ENST00000350437.4_Missense_Mutation_p.E224Q			Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	0	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCTGGAGGAAGAACACATAAC	0.532000										Multiple Myeloma(12;0.14)			9	34					0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30097554	30097554	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr13:30097554C>T	ENST00000380752.5	-	7	1284	c.898G>A	c.(898-900)Gcc>Acc	p.A300T		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	300					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCAAAGTAGGCGATGAAGCAG	0.602000													17	60					0	0	1	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047221	46047221	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr21:46047221C>A	ENST00000397911.3	+	1	182	c.133C>A	c.(133-135)Ctg>Atg	p.L45M	KRTAP10-9_ENST00000484861.1_3'UTR|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	45	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CTGCCTGACCCTGGTCTGCAC	0.697000													51	95					1.21353e-23	1.308e-23	1	1	0
ANKRD18A	253650	broad.mit.edu	37	9	38577921	38577921	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr9:38577921C>T	ENST00000399703.5	-	13	2846	c.2472G>A	c.(2470-2472)tcG>tcA	p.S824S		NM_147195.2	NP_671728.2	Q8IVF6	AN18A_HUMAN	ankyrin repeat domain 18A	824										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						CATCCAGCTCCGATTTATATT	0.318000													3	15					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118441366	118441366	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr10:118441366A>T	ENST00000369209.3	-	8	962	c.858T>A	c.(856-858)aaT>aaA	p.N286K		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	286							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GACTCTGCCGATTACGCCGTA	0.473000											OREG0020558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	37					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228486381	228486381	+	Nonsense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:228486381T>A	ENST00000570156.2	+	49	13247	c.13173T>A	c.(13171-13173)tgT>tgA	p.C4391*	OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.C1081*|OBSCN_ENST00000284548.11_Intron|RP5-1139B12.4_ENST00000602778.1_RNA	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3434	Ig-like 45.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CATGCATGTGTGGACAAGAGA	0.547000													26	80					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178541275	178541275	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr5:178541275A>G	ENST00000251582.7	-	22	3330	c.3229T>C	c.(3229-3231)Tcc>Ccc	p.S1077P		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1077	PLAC.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAATAGCGGGACAAGACTTCC	0.507000													9	26					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61538745	61538745	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:61538745C>G	ENST00000398571.2	-	27	3823	c.3747G>C	c.(3745-3747)caG>caC	p.Q1249H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1249					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTTGTTCTTTCTGTAAATTTT	0.368000													23	43					0	0	1	0	0
LGALS14	56891	broad.mit.edu	37	19	40197889	40197889	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:40197889G>A	ENST00000392052.3	+	3	387	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	LGALS14_ENST00000360675.3_Missense_Mutation_p.R84Q	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	55	Galectin.					nucleus	sugar binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			TTCCAATTCCGACTGCACTTT	0.458000													44	130					0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111944588	111944588	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr13:111944588C>G	ENST00000375741.2	+	20	2571	c.2321C>G	c.(2320-2322)tCt>tGt	p.S774C	ARHGEF7_ENST00000317133.5_Missense_Mutation_p.S753C|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.S596C|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000375736.4_Intron|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.S518C|ARHGEF7_ENST00000375737.5_Intron|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.S596C|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.S724C|ARHGEF7_ENST00000426073.2_Intron	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	774					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCGGAAGACTCTGACTATGAC	0.478000													17	93					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42176860	42176860	+	Silent	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr8:42176860C>G	ENST00000520810.1	+	14	1623	c.1437C>G	c.(1435-1437)ctC>ctG	p.L479L	IKBKB_ENST00000522785.1_3'UTR|IKBKB_ENST00000379708.3_Silent_p.L256L|IKBKB_ENST00000520835.1_Silent_p.L477L|IKBKB_ENST00000416505.2_Silent_p.L420L|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	479	Leucine-zipper.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CTCAGCAGCTCAAGGCCAAGT	0.488000											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	105					0	0	1	0	0
PNKD	25953	broad.mit.edu	37	2	219208297	219208297	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:219208297C>A	ENST00000273077.4	+	8	907	c.856C>A	c.(856-858)Ctt>Att	p.L286I	PNKD_ENST00000436005.2_Missense_Mutation_p.L226I|PNKD_ENST00000258362.3_Missense_Mutation_p.L262I|AC021016.8_ENST00000411433.1_RNA	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	286						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGATGACACCCTTCTGTGGCC	0.622000													6	13					0.0215528	0.0217136	1	1	0
ZNF645	158506	broad.mit.edu	37	X	22291226	22291226	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:22291226G>T	ENST00000323684.1	+	1	162	c.118G>T	c.(118-120)Gac>Tac	p.D40Y		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	40						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						CCGTTGGGGGGACATTAAGAT	0.348000													32	73					4.02929e-09	4.2331e-09	1	1	0
HAUS5	23354	broad.mit.edu	37	19	36109033	36109033	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:36109033G>C	ENST00000203166.5	+	10	782	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	HAUS5_ENST00000379045.2_Missense_Mutation_p.E253Q	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	253					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CCTGGCTGCAGAGCGGGAGGC	0.642000													16	138					0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53209742	53209742	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:53209742G>A	ENST00000543227.1	-	6	840	c.566C>T	c.(565-567)tCa>tTa	p.S189L	ZNF611_ENST00000595798.1_Missense_Mutation_p.S120L|ZNF611_ENST00000319783.1_Missense_Mutation_p.S189L|ZNF611_ENST00000540744.1_Missense_Mutation_p.S189L|ZNF611_ENST00000602162.1_Missense_Mutation_p.S120L|ZNF611_ENST00000453741.2_Missense_Mutation_p.S120L	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGTTGAAACTGAGGGAGCATC	0.383000													59	161					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420480	11420480	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr12:11420480T>G	ENST00000279573.7	-	3	838	c.703A>C	c.(703-705)Aaa>Caa	p.K235Q	PRB3_ENST00000381842.3_Intron|PRB3_ENST00000538488.1_Intron|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3		10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CCTTGAGGTTTGTTGCCTCCT	0.617000													2	0					0	0	1	0	0
NLRP6	171389	broad.mit.edu	37	11	281623	281623	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:281623A>G	ENST00000534750.1	+	4	2094	c.1889A>G	c.(1888-1890)gAg>gGg	p.E630G	NLRP6_ENST00000312165.5_Missense_Mutation_p.E630G	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	630						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGACGCAGGAGGACGCGTTT	0.642000													72	186					0	0	1	0	0
C4orf26	152816	broad.mit.edu	37	4	76489700	76489700	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:76489700G>A	ENST00000435974.2	+	3	506	c.488G>A	c.(487-489)aGa>aAa	p.R163K	C4orf26_ENST00000311623.4_3'UTR	NM_001206981.1	NP_001193910.1	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	0						extracellular region		p.R163I(1)		kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTATCCTTCAGAAAAAAGCAA	0.363000													13	60					0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102562566	102562566	+	Nonsense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:102562566A>T	ENST00000260229.4	-	10	1564	c.1473T>A	c.(1471-1473)taT>taA	p.Y491*		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	491					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		AACTCTTATGATACAATATCT	0.303000													7	54					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													4	71					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179638270	179638270	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:179638270T>A	ENST00000589042.1	-	32	7737	c.7513A>T	c.(7513-7515)Aac>Tac	p.N2505Y	TTN_ENST00000359218.5_Missense_Mutation_p.N2459Y|TTN_ENST00000460472.2_Missense_Mutation_p.N2459Y|TTN_ENST00000591111.1_Missense_Mutation_p.N2505Y|TTN_ENST00000342992.6_Missense_Mutation_p.N2505Y|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.N2505Y|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N2459Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2234	Ig-like 14.						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)			TGAGTTCGGTTAATGACTAGT	0.403000													35	35					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	118975465	118975465	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:118975465G>A	ENST00000296499.5	+	2	803	c.400G>A	c.(400-402)Gag>Aag	p.E134K	NDST3_ENST00000433996.2_Missense_Mutation_p.E134K	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	134	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CATTATTTATGAGAATATTTT	0.348000													12	39					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8387498	8387498	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:8387498C>T	ENST00000360416.3	-	37	5271	c.5133G>A	c.(5131-5133)aaG>aaA	p.K1711K	MYH10_ENST00000379980.4_Silent_p.K1696K|MYH10_ENST00000396239.1_Silent_p.K1701K|MYH10_ENST00000269243.4_Silent_p.K1680K	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1680					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCTTCAATTTCTTTTCACTCT	0.363000													30	109					0	0	1	0	0
NUDCD2	134492	broad.mit.edu	37	5	162881036	162881036	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr5:162881036A>G	ENST00000302764.4	-	4	500	c.411T>C	c.(409-411)agT>agC	p.S137S	NUDCD2_ENST00000517501.1_Silent_p.S112S	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	137						intracellular				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		TTTCTGCTCCACTGAAGTCAA	0.328000													8	45					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36339023	36339023	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:36339023T>G	ENST00000378910.5	-	11	1359	c.1360A>C	c.(1360-1362)Aag>Cag	p.K454Q	NPHS1_ENST00000353632.6_Missense_Mutation_p.K454Q	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	454	Ig-like C2-type 5.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCCGGAGCTTCTGGCCCTCT	0.622000													37	131					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70959496	70959496	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr15:70959496A>G	ENST00000322954.6	-	16	3712	c.3527T>C	c.(3526-3528)tTt>tCt	p.F1176S	UACA_ENST00000539319.1_Missense_Mutation_p.F1067S|UACA_ENST00000379983.2_Missense_Mutation_p.F1163S|UACA_ENST00000560441.1_Missense_Mutation_p.F1161S	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1176						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTCTTTCTCAAATGCTTCTTT	0.413000													5	154					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363164	22363164	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:22363164T>C	ENST00000397121.2	-	3	1672	c.1355A>G	c.(1354-1356)gAa>gGa	p.E452G		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GCCACATTCTTCACATTTGTA	0.438000													32	92					0	0	1	0	0
DTNBP1	84062	broad.mit.edu	37	6	15593314	15593314	+	Splice_Site	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr6:15593314T>C	ENST00000338950.5	-	7	594		c.e7-2		DTNBP1_ENST00000344537.5_Splice_Site|DTNBP1_ENST00000355917.3_Intron	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1						actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			AGTTCCTTCCTGTAGGAAAAA	0.308000									Hermansky-Pudlak syndrome				11	10					0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209776593	209776593	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:209776593A>G	ENST00000009105.1	+	4	501	c.256A>G	c.(256-258)Atc>Gtc	p.I86V	CAMK1G_ENST00000361322.2_Missense_Mutation_p.I86V			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	86	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CCTGGAGGACATCTATGAGAG	0.483000													16	44					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63970083	63970083	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr15:63970083G>A	ENST00000443617.2	-	37	7118	c.7031C>T	c.(7030-7032)tCt>tTt	p.S2344F	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2344					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GACCTTGGCAGACGTGCTGCC	0.478000													81	188					0	0	1	0	0
CAAP1	79886	broad.mit.edu	37	9	26884874	26884874	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr9:26884874C>T	ENST00000333916.5	-	4	687	c.599G>A	c.(598-600)gGa>gAa	p.G200E	CAAP1_ENST00000535437.1_Missense_Mutation_p.G55E|CAAP1_ENST00000495958.1_5'UTR|CAAP1_ENST00000520187.1_Intron	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CI082_HUMAN	caspase activity and apoptosis inhibitor 1	200																	AGAGTCCATTCCATTGTCACC	0.284000													46	150					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47622868	47622868	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr16:47622868A>T	ENST00000455779.1	+	11	1087	c.902A>T	c.(901-903)gAt>gTt	p.D301V	PHKB_ENST00000299167.8_Missense_Mutation_p.D308V|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000323584.5_Missense_Mutation_p.D308V|PHKB_ENST00000566044.1_Missense_Mutation_p.D301V			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	308					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTTGCCCTGGATGATGAAGTT	0.413000													26	50					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49662194	49662194	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr10:49662194T>C	ENST00000249601.4	-	7	1099	c.803A>G	c.(802-804)gAg>gGg	p.E268G	ARHGAP22_ENST00000374172.1_Missense_Mutation_p.E159G|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.E284G|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.E274G|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.E178G|ARHGAP22_ENST00000374170.1_Intron	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	268	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTAGCCAACTCCAGAGTGCC	0.517000													18	66					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21350043	21350043	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr22:21350043C>G	ENST00000215739.8	+	17	2310	c.1951C>G	c.(1951-1953)Ctg>Gtg	p.L651V	LZTR1_ENST00000389355.3_Missense_Mutation_p.L632V|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	651					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGGCACATCTCTGATCCAGGA	0.607000													362	168					0	0	1	0	0
CCDC96	257236	broad.mit.edu	37	4	7043224	7043224	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:7043224G>A	ENST00000310085.4	-	1	1504	c.1442C>T	c.(1441-1443)aCg>aTg	p.T481M	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	481										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						GGCTTGCTTCGTCTTGGTCAG	0.547000													5	261					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107977171	107977171	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:107977171A>T	ENST00000372129.2	-	1	2480	c.2404T>A	c.(2404-2406)Tcc>Acc	p.S802T		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	802						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CAACTTTTGGAGGAAGAGCCA	0.473000													38	250					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93498722	93498722	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr15:93498722G>A	ENST00000394196.4	+	15	2857	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	CHD2_ENST00000557381.1_Missense_Mutation_p.E597K	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	597	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AACAACATATGAGATCCTCTT	0.338000													10	15					0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	29781212	29781212	+	Splice_Site	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr3:29781212A>G	ENST00000434693.2	+	5	1098	c.398A>G	c.(397-399)cAa>cGa	p.Q133R	RBMS3_ENST00000383766.2_Splice_Site_p.Q133R|RBMS3_ENST00000452462.1_Splice_Site_p.Q134R|RBMS3_ENST00000383767.2_Splice_Site_p.Q134R|RBMS3_ENST00000456853.1_Splice_Site_p.Q134R|RBMS3_ENST00000445033.1_Splice_Site_p.Q134R|RBMS3_ENST00000396583.3_Splice_Site_p.Q134R|RBMS3_ENST00000273139.9_Splice_Site_p.Q134R	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	134	RRM 1.					cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TTCCCTTAGCAACAAGAGCAA	0.358000													51	128					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53820934	53820934	+	Silent	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr3:53820934A>T	ENST00000288139.4	+	41	5056	c.4938A>T	c.(4936-4938)ggA>ggT	p.G1646G	CACNA1D_ENST00000540742.1_Silent_p.G518G|CACNA1D_ENST00000422281.2_Silent_p.G1611G|CACNA1D_ENST00000350061.5_Silent_p.G1626G	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AAGAACAAGGACTGGTGGGAA	0.418000													10	39					0	0	1	0	0
CABP5	56344	broad.mit.edu	37	19	48542541	48542541	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:48542541T>C	ENST00000293255.2	-	4	402	c.272A>G	c.(271-273)gAg>gGg	p.E91G		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	91	EF-hand 2.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		GGTCATCAGCTCCACAAAGTC	0.532000													20	83					0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35850630	35850630	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:35850630T>A	ENST00000327809.4	+	2	1039	c.838T>A	c.(838-840)Tcc>Acc	p.S280T	FFAR3_ENST00000594310.1_Missense_Mutation_p.S280T	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	280						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTACTTCTCCTCCTCCGGGTT	0.587000													24	175					0	0	1	0	0
PRR25	388199	broad.mit.edu	37	16	863580	863580	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr16:863580C>T	ENST00000301698.1	+	3	928	c.928C>T	c.(928-930)Ccg>Tcg	p.P310S		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	310										large_intestine(1)|lung(1)|skin(1)	3						GCTTCTGCCCCCGGGGGACGC	0.672000													7	13					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57742152	57742152	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:57742152G>C	ENST00000269122.3	+	10	1800	c.1526G>C	c.(1525-1527)gGa>gCa	p.G509A	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.G509A	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	509	Flexible linker.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTATAGGTTGGATACACTCCA	0.348000			T	"""ALK, TFE3"""	"""ALCL, renal """								14	65					0	0	1	0	0
SUCLA2	8803	broad.mit.edu	37	13	48542734	48542734	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr13:48542734T>C	ENST00000378654.3	-	6	854	c.798A>G	c.(796-798)ggA>ggG	p.G266G	SUCLA2_ENST00000543413.1_Silent_p.G208G|SUCLA2_ENST00000544100.1_Silent_p.G132G|SUCLA2_ENST00000534875.1_Silent_p.G208G	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	266	ATP-grasp.				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	CTTTACCAGCTCCATCTGAAT	0.338000													22	19					0	0	1	0	0
FAM98C	147965	broad.mit.edu	37	19	38896245	38896245	+	Silent	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:38896245A>T	ENST00000252530.5	+	6	739	c.720A>T	c.(718-720)acA>acT	p.T240T	FAM98C_ENST00000343358.7_Silent_p.T214T|FAM98C_ENST00000588262.1_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	240			T -> K (in dbSNP:rs3745962).							endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACCTCACTACATCTGCTTTCC	0.607000													18	67					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27419978	27419978	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:27419978C>G	ENST00000527372.1	-	33	5148	c.4968G>C	c.(4966-4968)aaG>aaC	p.K1656N	MYO18A_ENST00000533112.1_Missense_Mutation_p.K1619N|MYO18A_ENST00000354329.4_Missense_Mutation_p.K1656N|MYO18A_ENST00000531253.1_Missense_Mutation_p.K1656N	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1656					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCTTCAGGTCCTTCCGCAGCC	0.612000													21	55					0	0	1	0	0
PTBP1	5725	broad.mit.edu	37	19	804061	804061	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:804061C>G	ENST00000356948.6	+	4	564	c.141C>G	c.(139-141)ttC>ttG	p.F47L	PTBP1_ENST00000349038.4_Missense_Mutation_p.F47L|PTBP1_ENST00000394601.4_Missense_Mutation_p.F47L|PTBP1_ENST00000350092.4_Intron	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	47					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAAGAAGTTCAAAGGTGACA	0.587000													12	51					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90660282	90660282	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr6:90660282T>C	ENST00000257749.4	-	7	2250	c.1543A>G	c.(1543-1545)Acc>Gcc	p.T515A	BACH2_ENST00000343122.3_Missense_Mutation_p.T515A|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.T515A|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	515						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CTGGTCCTGGTCTCCAAGGGG	0.642000													35	48					0	0	1	0	0
TRBV11-1	28582	broad.mit.edu	37	7	142223871	142223871	+	RNA	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr7:142223871T>A	ENST00000390367.3	-	0	312																											CTCTGCAGGCTGGATCTTGAG	0.502000													35	169					0	0	1	0	0
ZNF157	7712	broad.mit.edu	37	X	47269690	47269690	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:47269690G>A	ENST00000377073.3	+	2	174	c.88G>A	c.(88-90)Gag>Aag	p.E30K		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	30	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CGTGTCATTCGAGGATGTGGC	0.493000													41	59					0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71427164	71427164	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:71427164A>T	ENST00000373657.1	-	3	1686	c.1084T>A	c.(1084-1086)Tcg>Acg	p.S362T	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.S485T			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	485					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ATTTGCCTCGATTGAGAAAAC	0.393000													12	67					0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64769402	64769402	+	Splice_Site	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr5:64769402A>T	ENST00000536360.1	-	2	911		c.e2+1					Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CAAGAATCCTACCTTGAGAAC	0.358000													46	100					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242147076	242147076	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:242147076C>T	ENST00000274979.8	+	11	1333	c.1230C>T	c.(1228-1230)gcC>gcT	p.A410A	ANO7_ENST00000402430.3_Silent_p.A409A	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	410						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCGCCTGTGCCCTGGCCCAGG	0.617000													45	66					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179564637	179564637	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr5:179564637G>A	ENST00000393371.2	-	2	549	c.253C>T	c.(253-255)Cac>Tac	p.H85Y	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.H85Y			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	85	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGCACAGGTGGCAGACCCGG	0.647000													15	42					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634773	32634773	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr9:32634773T>C	ENST00000242310.4	-	1	894	c.805A>G	c.(805-807)Aag>Gag	p.K269E	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	269					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGGACATTCTTCCCTGGTCCA	0.493000													43	115					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48947539	48947539	+	Splice_Site	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr13:48947539A>G	ENST00000267163.4	+	12	1265		c.e12-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TATCCCCTCTAGGACTGTTAT	0.303000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			33	67					0	0	1	0	0
OR7A10	390892	broad.mit.edu	37	19	14952606	14952606	+	Silent	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:14952606A>G	ENST00000248058.1	-	1	83	c.84T>C	c.(82-84)ttT>ttC	p.F28F		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					GGAACAGCCCAAAGAGGAAGG	0.473000													13	86					0	0	1	0	0
IGHV4-31	28396	broad.mit.edu	37	14	106805316	106805316	+	RNA	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr14:106805316A>G	ENST00000438142.2	-	0	318																											CTCTTGAGGGACGGGTTGTAG	0.547000													110	162					0	0	1	0	0
ACN9	57001	broad.mit.edu	37	7	96747179	96747179	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr7:96747179C>G	ENST00000432641.2	+	1	1278	c.144C>G	c.(142-144)gaC>gaG	p.D48E	ACN9_ENST00000360382.4_Missense_Mutation_p.D48E	NM_020186.2	NP_064571.1	Q9NRP4	ACN9_HUMAN	ACN9 homolog (S. cerevisiae)	48					regulation of gluconeogenesis	mitochondrial intermembrane space				large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					TTGGTTCTGACGAGGCACAGC	0.547000													25	49					0	0	1	0	0
ZNF250	58500	broad.mit.edu	37	8	146107407	146107407	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr8:146107407C>G	ENST00000292579.7	-	6	1292	c.1176G>C	c.(1174-1176)gaG>gaC	p.E392D	ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.E387D	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		CATAGGGCTTCTCCCCGGTGT	0.592000													12	63					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304067	10304067	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:10304067G>C	ENST00000403437.2	-	27	3469	c.3375C>G	c.(3373-3375)atC>atG	p.I1125M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1125					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCTCTGCCTCGATTTCTTCCC	0.537000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				32	69					0	0	1	0	0
PGC	5225	broad.mit.edu	37	6	41712464	41712464	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr6:41712464A>G	ENST00000373025.3	-	2	204	c.142T>C	c.(142-144)Tat>Cat	p.Y48H	PGC_ENST00000425343.2_Missense_Mutation_p.Y48H	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	48					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GCAGGATCATACTTGTGGGTC	0.527000													10	27					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066215	9066215	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:9066215T>A	ENST00000397910.4	-	3	21434	c.21231A>T	c.(21229-21231)agA>agT	p.R7077S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7079	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCCAGGACCTCTGCTCATGA	0.512000													21	66					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60038273	60038273	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:60038273C>G	ENST00000397786.2	-	23	5511	c.5435G>C	c.(5434-5436)gGa>gCa	p.G1812A		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1812					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TAAAAGTTCTCCATATAGATC	0.313000													13	50					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32906757	32906757	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr13:32906757A>G	ENST00000544455.1	+	10	1369	c.1142A>G	c.(1141-1143)gAc>gGc	p.D381G	BRCA2_ENST00000380152.3_Missense_Mutation_p.D381G	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	381					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGTGGAAGTGACAAAATCTCC	0.403000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			36	244					0	0	1	0	0
TYRP1	7306	broad.mit.edu	37	9	12702280	12702280	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr9:12702280A>T	ENST00000388918.5	+	5	1052	c.923A>T	c.(922-924)gAt>gTt	p.D308V	TYRP1_ENST00000381136.2_Missense_Mutation_p.D18V|TYRP1_ENST00000381137.2_Missense_Mutation_p.D18V|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	308					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GGCACCGAGGATGGGCCAATT	0.428000									Oculocutaneous Albinism				12	57					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179464159	179464159	+	Silent	SNP	A	A	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:179464159A>T	ENST00000589042.1	-	290	56585	c.56361T>A	c.(56359-56361)ccT>ccA	p.P18787P	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.P9847P|TTN_ENST00000460472.2_Silent_p.P9722P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Silent_p.P17146P|TTN_ENST00000342992.6_Silent_p.P16219P|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.P9914P|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17146	Fibronectin type-III 36.						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)			GTCCCACTGGAGGGCCAGGAC	0.358000													26	39					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230672554	230672554	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:230672554T>A	ENST00000283943.5	-	16	2400	c.2222A>T	c.(2221-2223)gAa>gTa	p.E741V	TRIP12_ENST00000389044.4_Missense_Mutation_p.E789V|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Missense_Mutation_p.E444V	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	741					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAAAATGCCTTCTTTTGGTAA	0.373000													9	18					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601955	138601955	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr7:138601955G>C	ENST00000440172.1	-	2	2465	c.2417C>G	c.(2416-2418)tCa>tGa	p.S806*	KIAA1549_ENST00000242365.4_Nonsense_Mutation_p.S756*|KIAA1549_ENST00000422774.1_Nonsense_Mutation_p.S806*	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	806						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGTCAGAGTTGAGAACAAAGA	0.493000			O	BRAF	pilocytic astrocytoma								8	26					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399001	22399001	+	Silent	SNP	T	T	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:22399001T>C	ENST00000263160.3	+	12	1901	c.1464T>C	c.(1462-1464)taT>taC	p.Y488Y		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	488					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TAGTCCACTATGGTGGAGTTA	0.443000													11	48					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100866426	100866426	+	Silent	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr8:100866426G>A	ENST00000358544.2	+	56	10995	c.10884G>A	c.(10882-10884)gcG>gcA	p.A3628A	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.A3603A	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3628					protein transport			p.A3603A(1)|p.A3628A(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCACCACTGCGAGGCAGCTTG	0.562000													13	50					0	0	1	0	0
PEX13	5194	broad.mit.edu	37	2	61258581	61258581	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr2:61258581G>A	ENST00000295030.5	+	2	158	c.120G>A	c.(118-120)atG>atA	p.M40I	PEX13_ENST00000472678.1_3'UTR	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13						cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			CTACTTTAATGACAAGACCTG	0.388000													13	58					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065639	55065639	+	RNA	SNP	C	C	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:55065639C>A	ENST00000526016.1	-	0	69					NR_038174.2																						GAAACAGGGCCGGCAAAAGCT	0.493000													3	61					0.00024832	0.000254446	1	1	0
ERBB3	2065	broad.mit.edu	37	12	56492623	56492623	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr12:56492623G>C	ENST00000267101.3	+	23	3213	c.2773G>C	c.(2773-2775)Gag>Cag	p.E925Q	ERBB3_ENST00000549832.1_Missense_Mutation_p.E45Q|ERBB3_ENST00000450146.2_Missense_Mutation_p.E282Q|ERBB3_ENST00000553131.1_Missense_Mutation_p.E166Q|ERBB3_ENST00000415288.2_Missense_Mutation_p.E866Q	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	925	Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGACCTGCTAGAGAAGGGGGA	0.527000													64	59					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932916	83932916	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr15:83932916C>T	ENST00000345382.2	-	4	1172	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.E356K	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	363					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AAGGTCTTCTCACATGCAGTG	0.478000													21	82					0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89319308	89319308	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr4:89319308C>T	ENST00000380265.5	+	8	1222	c.1039C>T	c.(1039-1041)Caa>Taa	p.Q347*	HERC6_ENST00000264346.7_Nonsense_Mutation_p.Q347*	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	347					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CGTGGATGTTCAAGTCAAACA	0.289000													4	7					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71800853	71800853	+	Silent	SNP	C	C	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:71800853C>T	ENST00000373545.3	-	32	3983	c.3545G>A	c.(3544-3546)tGa>tAa	p.*1182*	PHKA1_ENST00000373542.4_Silent_p.*1224*|PHKA1_ENST00000373539.3_Silent_p.*1241*|PHKA1_ENST00000541944.1_Silent_p.*1152*|PHKA1_ENST00000339490.3_Silent_p.*1211*			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	0					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CCAAAGCCCTCATTGCATGGC	0.552000													11	15					0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91136983	91136983	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr15:91136983G>A	ENST00000420329.2	+	3	494	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000268184.6_Missense_Mutation_p.R116Q|CRTC3_ENST00000560098.1_Intron	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	116					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AAGCCAGGGCGACAAATATCC	0.507000			T	MAML2	salivary gland mucoepidermoid								13	56					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36856592	36856592	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr20:36856592T>A	ENST00000279024.4	-	6	2193	c.1922A>T	c.(1921-1923)cAg>cTg	p.Q641L		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	641										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTGTGGGGGCTGTCTCCTGGC	0.627000													12	53					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42507504	42507504	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:42507504T>A	ENST00000262895.3	-	18	2493	c.2494A>T	c.(2494-2496)Agg>Tgg	p.R832W	GRIK5_ENST00000593562.1_Missense_Mutation_p.R832W|GRIK5_ENST00000301218.4_Missense_Mutation_p.R832W	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	832						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)	TCAGCTGACCTCCGTGTGGAC	0.577000													28	54					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs148903206		TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										aaaccaaaaacaaaAAAAAAAG	0.416													3	5	---	---	---	---					
SLC50A1	55974	broad.mit.edu	37	1	155109375	155109376	+	Frame_Shift_Ins	INS	-	-	TGCG			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:155109375_155109376insTGCG	ENST00000368404.4	+	3	292_293	c.230_231insTGCG	c.(229-234)gctgcgfs	p.-78fs	SLC50A1_ENST00000368405.3_Intron|SLC50A1_ENST00000303343.8_Frame_Shift_Ins_p.-78fs|SLC50A1_ENST00000368401.5_Intron|SLC50A1_ENST00000484157.1_Intron	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1						positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						ACAGTGGGTGCTGCGCTTCAGA	0.589													21	66	---	---	---	---					
SDCCAG8	10806	broad.mit.edu	37	1	243456392	243456392	+	Splice_Site	DEL	G	G	-			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr1:243456392delG	ENST00000366541.3	+	6	664		c.e6-1		SDCCAG8_ENST00000355875.4_Intron|SDCCAG8_ENST00000343783.6_Splice_Site|SDCCAG8_ENST00000391846.1_Splice_Site	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8						establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTTTATTTTAGGGAAACATGC	0.343													64	84	---	---	---	---					
WDR49	151790	broad.mit.edu	37	3	167293808	167293808	+	Frame_Shift_Del	DEL	A	A	-			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr3:167293808delA	ENST00000308378.3	-	4	689	c.384delT	c.(382-384)aatfs	p.N129fs	WDR49_ENST00000479765.1_Frame_Shift_Del_p.N470fs|WDR49_ENST00000453925.2_Frame_Shift_Del_p.N182fs	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	129										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTAGCTGGTTATTAAACGAGA	0.428													27	153	---	---	---	---					
HMGA1	3159	broad.mit.edu	37	6	34210526	34210526	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr6:34210526delG	ENST00000447654.1	+	3	662	c.173delG	c.(172-174)cggfs	p.R58fs	HMGA1_ENST00000347617.6_Frame_Shift_Del_p.R47fs|HMGA1_ENST00000374116.3_Frame_Shift_Del_p.R47fs|HMGA1_ENST00000395004.3_Frame_Shift_Del_p.R58fs|HMGA1_ENST00000478214.1_3'UTR|HMGA1_ENST00000401473.3_Frame_Shift_Del_p.R47fs|HMGA1_ENST00000311487.5_Frame_Shift_Del_p.R58fs	NM_145901.2|NM_145902.2	NP_665908.1|NP_665909.1	P17096	HMGA1_HUMAN	high mobility group AT-hook 1	58	Interaction with HIPK2 (By similarity).				DNA unwinding involved in replication|initiation of viral infection|interspecies interaction between organisms|loss of chromatin silencing|nucleosome disassembly|protein complex assembly|provirus integration	chromatin|cytosol|transcription factor complex	AT DNA binding|enzyme binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|protein binding|retinoid X receptor binding|sequence-specific DNA binding transcription factor activity			lung(1)	1						AAGAGACCTCGGGGCCGACCA	0.562			T	?	"""microfollicular thyroid adenoma,  various benign mesenchymal tumors,"""								2	4	---	---	---	---					
DNAH8	1769	broad.mit.edu	37	6	38697694	38697695	+	Frame_Shift_Ins	INS	-	-	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr6:38697694_38697695insT	ENST00000449981.2	+	4	651_652	c.542_543insT	c.(541-546)aattttfs	p.NF181fs	DNAH8_ENST00000359357.3_Intron					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCATTTACTAATTTTTTTGCGA	0.337													9	14	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	152012391	152012392	+	Frame_Shift_Ins	INS	-	-	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr7:152012391_152012392insC	ENST00000355193.2	-	4	639_640	c.421_422insG	c.(421-423)gaafs	p.E141fs	KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.E141fs					lysine (K)-specific methyltransferase 2C																		GGAACTTTTTTCCCCACAGTAA	0.371													14	91	---	---	---	---					
CRB2	286204	broad.mit.edu	37	9	126135699	126135699	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr9:126135699delG	ENST00000373631.3	+	10	2890	c.2889delG	c.(2887-2889)atgfs	p.M963fs	CRB2_ENST00000359999.3_Frame_Shift_Del_p.M963fs|CRB2_ENST00000373629.2_Frame_Shift_Del_p.M631fs	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	963	Laminin G-like 3.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GTCTGGCCATGGAGCGCCCGG	0.776													2	4	---	---	---	---					
FCN2	2220	broad.mit.edu	37	9	137779161	137779161	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr9:137779161delG	ENST00000350339.2	+	7	742	c.728delG	c.(727-729)aggfs	p.R243fs	FCN2_ENST00000291744.6_Frame_Shift_Del_p.R281fs	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	281	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CGCTACCTCAGGGGGACTCAT	0.483													22	98	---	---	---	---					
ROBO3	64221	broad.mit.edu	37	11	124748563	124748563	+	Frame_Shift_Del	DEL	C	C	-			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr11:124748563delC	ENST00000397801.1	+	23	3596	c.3404delC	c.(3403-3405)accfs	p.T1135fs	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_5'UTR|ROBO3_ENST00000538940.1_Frame_Shift_Del_p.T1113fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1135					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGCCTGGTCACCCCATCCCGA	0.622													12	32	---	---	---	---					
PCDH20	64881	broad.mit.edu	37	13	61986290	61986291	+	Frame_Shift_Ins	INS	-	-	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr13:61986290_61986291insA	ENST00000409186.1	-	5	4046_4047	c.1941_1942insT	c.(1939-1944)tttgtgfs	p.V648fs	PCDH20_ENST00000409204.4_Frame_Shift_Ins_p.V648fs			Q8N6Y1	PCD20_HUMAN	protocadherin 20	621	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTTTCAGGCACAAAAAAGCTGA	0.480													14	62	---	---	---	---					
CLUH	23277	broad.mit.edu	37	17	2598756	2598757	+	Frame_Shift_Ins	INS	-	-	GCAT			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:2598756_2598757insGCAT	ENST00000570628.2	-	14	2443_2444	c.2338_2339insATGC	c.(2338-2340)cgcfs	p.R780fs	CLUH_ENST00000435359.1_Frame_Shift_Ins_p.R780fs|CLUH_ENST00000538975.1_Frame_Shift_Ins_p.R780fs					clustered mitochondria (cluA/CLU1) homolog																		GCCCCGCTGGCGCATCACCTCT	0.693													20	75	---	---	---	---					
USH1G	124590	broad.mit.edu	37	17	72916725	72916725	+	Frame_Shift_Del	DEL	A	A	-			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr17:72916725delA	ENST00000319642.1	-	2	388	c.206delT	c.(205-207)ctgfs	p.L69fs		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	69					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					TGCCAGATGCAGGGGTGTGTT	0.602													13	66	---	---	---	---					
ROCK1P1	727758	broad.mit.edu	37	18	112519	112520	+	RNA	INS	-	-	A	rs140158594	by1000genomes	TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr18:112519_112520insA	ENST00000608049.1	+	0	389					NR_033770.1																						CCAGCTCCCCCGGGGCCTCCGT	0.530													7	31	---	---	---	---					
TMEM184B	25829	broad.mit.edu	37	22	38641993	38641995	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chr22:38641993_38641995delGAA	ENST00000361906.3	-	3	512_514	c.304_306delTTC	c.(304-306)ttcdel	p.F102del	TMEM184B_ENST00000361684.4_In_Frame_Del_p.F102del	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	102						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					GGTCGTTGGTGAAGAAGAGGAGG	0.635													21	54	---	---	---	---					
BRWD3	254065	broad.mit.edu	37	X	79939516	79939516	+	Frame_Shift_Del	DEL	T	T	-			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	73258560-2457-465a-85ef-a50a2b198a4f	g.chrX:79939516delT	ENST00000373275.4	-	37	4442	c.4226delA	c.(4225-4227)aagfs	p.K1409fs	BRWD3_ENST00000473691.1_Intron	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1409	Bromo 2.									breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TACCCTTGACTTTTTATTAGA	0.338													13	73	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs148903206		TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										aaaccaaaaacaaaAAAAAAAG	0.416													3	5	---	---	---	---					
SLC50A1	55974	broad.mit.edu	37	1	155109375	155109376	+	Frame_Shift_Ins	INS	-	-	TGCG			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:155109375_155109376insTGCG	ENST00000368404.4	+	3	292_293	c.230_231insTGCG	c.(229-234)gctgcgfs	p.-78fs	SLC50A1_ENST00000368405.3_Intron|SLC50A1_ENST00000303343.8_Frame_Shift_Ins_p.-78fs|SLC50A1_ENST00000484157.1_Intron|SLC50A1_ENST00000368401.5_Intron	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1						positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						ACAGTGGGTGCTGCGCTTCAGA	0.589													21	66	---	---	---	---					
SDCCAG8	10806	broad.mit.edu	37	1	243456392	243456392	+	Splice_Site	DEL	G	G	-			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr1:243456392delG	ENST00000366541.3	+	6	664		c.e6-1		SDCCAG8_ENST00000391846.1_Splice_Site|SDCCAG8_ENST00000355875.4_Intron|SDCCAG8_ENST00000343783.6_Splice_Site	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8						establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTTTATTTTAGGGAAACATGC	0.343													64	84	---	---	---	---					
WDR49	151790	broad.mit.edu	37	3	167293808	167293808	+	Frame_Shift_Del	DEL	A	A	-			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr3:167293808delA	ENST00000308378.3	-	4	689	c.384delT	c.(382-384)aatfs	p.N129fs	WDR49_ENST00000453925.2_Frame_Shift_Del_p.N182fs|WDR49_ENST00000479765.1_Frame_Shift_Del_p.N470fs	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	129										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTAGCTGGTTATTAAACGAGA	0.428													27	153	---	---	---	---					
HMGA1	3159	broad.mit.edu	37	6	34210526	34210526	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr6:34210526delG	ENST00000447654.1	+	3	662	c.173delG	c.(172-174)cggfs	p.R58fs	HMGA1_ENST00000311487.5_Frame_Shift_Del_p.R58fs|HMGA1_ENST00000374116.3_Frame_Shift_Del_p.R47fs|HMGA1_ENST00000478214.1_3'UTR|HMGA1_ENST00000347617.6_Frame_Shift_Del_p.R47fs|HMGA1_ENST00000395004.3_Frame_Shift_Del_p.R58fs|HMGA1_ENST00000401473.3_Frame_Shift_Del_p.R47fs	NM_145901.2|NM_145902.2	NP_665908.1|NP_665909.1	P17096	HMGA1_HUMAN	high mobility group AT-hook 1	58	Interaction with HIPK2 (By similarity).				DNA unwinding involved in replication|initiation of viral infection|interspecies interaction between organisms|loss of chromatin silencing|nucleosome disassembly|protein complex assembly|provirus integration	chromatin|cytosol|transcription factor complex	AT DNA binding|enzyme binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|protein binding|retinoid X receptor binding|sequence-specific DNA binding transcription factor activity			lung(1)	1						AAGAGACCTCGGGGCCGACCA	0.562			T	?	"""microfollicular thyroid adenoma,  various benign mesenchymal tumors,"""								2	4	---	---	---	---					
DNAH8	1769	broad.mit.edu	37	6	38697694	38697695	+	Frame_Shift_Ins	INS	-	-	T			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr6:38697694_38697695insT	ENST00000449981.2	+	4	651_652	c.542_543insT	c.(541-546)aattttfs	p.NF181fs	DNAH8_ENST00000359357.3_Intron					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCATTTACTAATTTTTTTGCGA	0.337													9	14	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	152012391	152012392	+	Frame_Shift_Ins	INS	-	-	C			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr7:152012391_152012392insC	ENST00000355193.2	-	4	639_640	c.421_422insG	c.(421-423)gaafs	p.E141fs	KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.E141fs					lysine (K)-specific methyltransferase 2C																		GGAACTTTTTTCCCCACAGTAA	0.371													14	91	---	---	---	---					
ROBO3	64221	broad.mit.edu	37	11	124748563	124748563	+	Frame_Shift_Del	DEL	C	C	-			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr11:124748563delC	ENST00000397801.1	+	23	3596	c.3404delC	c.(3403-3405)accfs	p.T1135fs	ROBO3_ENST00000543966.1_5'UTR|ROBO3_ENST00000538940.1_Frame_Shift_Del_p.T1113fs|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1135					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGCCTGGTCACCCCATCCCGA	0.622													12	32	---	---	---	---					
PCDH20	64881	broad.mit.edu	37	13	61986290	61986291	+	Frame_Shift_Ins	INS	-	-	A			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr13:61986290_61986291insA	ENST00000409186.1	-	5	4046_4047	c.1941_1942insT	c.(1939-1944)tttgtgfs	p.V648fs	PCDH20_ENST00000409204.4_Frame_Shift_Ins_p.V648fs			Q8N6Y1	PCD20_HUMAN	protocadherin 20	621	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTTTCAGGCACAAAAAAGCTGA	0.480													14	62	---	---	---	---					
CLUH	23277	broad.mit.edu	37	17	2598756	2598757	+	Frame_Shift_Ins	INS	-	-	GCAT			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:2598756_2598757insGCAT	ENST00000570628.2	-	14	2443_2444	c.2338_2339insATGC	c.(2338-2340)cgcfs	p.R780fs	CLUH_ENST00000538975.1_Frame_Shift_Ins_p.R780fs|CLUH_ENST00000435359.1_Frame_Shift_Ins_p.R780fs					clustered mitochondria (cluA/CLU1) homolog																		GCCCCGCTGGCGCATCACCTCT	0.693													20	75	---	---	---	---					
USH1G	124590	broad.mit.edu	37	17	72916725	72916725	+	Frame_Shift_Del	DEL	A	A	-			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr17:72916725delA	ENST00000319642.1	-	2	388	c.206delT	c.(205-207)ctgfs	p.L69fs		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	69					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					TGCCAGATGCAGGGGTGTGTT	0.602													13	66	---	---	---	---					
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr19:50310483_50310485delCAG	ENST00000313777.4	-	11	1343_1345	c.1180_1182delCTG	c.(1180-1182)ctgdel	p.L394del	FUZ_ENST00000445575.2_Intron|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	394	Leu-rich.				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCTGGGGAGACAGCAGCAGCAGC	0.635													10	111	---	---	---	---					
TMEM184B	25829	broad.mit.edu	37	22	38641993	38641995	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chr22:38641993_38641995delGAA	ENST00000361906.3	-	3	512_514	c.304_306delTTC	c.(304-306)ttcdel	p.F102del	TMEM184B_ENST00000361684.4_In_Frame_Del_p.F102del	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	102						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					GGTCGTTGGTGAAGAAGAGGAGG	0.635													21	54	---	---	---	---					
BRWD3	254065	broad.mit.edu	37	X	79939516	79939516	+	Frame_Shift_Del	DEL	T	T	-			TCGA-K4-A6FZ-01A-11D-A31L-08	TCGA-K4-A6FZ-11A-12D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cf25555-47f7-4038-8f3c-3e6e5fceb240	a0146ce8-affb-4fe4-a66a-50947032191e	g.chrX:79939516delT	ENST00000373275.4	-	37	4442	c.4226delA	c.(4225-4227)aagfs	p.K1409fs	BRWD3_ENST00000473691.1_Intron	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1409	Bromo 2.									breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TACCCTTGACTTTTTATTAGA	0.338													13	73	---	---	---	---					
