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
CACNA1C	775	broad.mit.edu	37	12	2719737	2719737	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr12:2719737C>T	ENST00000399655.1	+	28	3854	c.3589C>T	c.(3589-3591)Cgg>Tgg	p.R1197W	CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1197W|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R1217W|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1222W|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1217W|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1197W|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1197W	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1217	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCTCAAGGCCCGGCCCCTGCG	0.592000													18	70					0	0	1	0	0
MAP2K2	5605	broad.mit.edu	37	19	4102431	4102431	+	Missense_Mutation	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:4102431C>A	ENST00000262948.5	-	4	724	c.471G>T	c.(469-471)caG>caT	p.Q157H	MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_Missense_Mutation_p.Q60H	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	157	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTCAGCACCTGGTCCAGGG	0.667000													4	8					0.150653	0.151685	1	1	0
HDAC6	10013	broad.mit.edu	37	X	48683003	48683003	+	Missense_Mutation	SNP	A	A	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:48683003A>T	ENST00000334136.5	+	29	3807	c.3629A>T	c.(3628-3630)gAt>gTt	p.D1210V	HDAC6_ENST00000376619.2_Missense_Mutation_p.D1210V|HDAC6_ENST00000444343.2_Missense_Mutation_p.D1224V			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1210					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TTTGGGGAGGATATGCCCCAC	0.547000													7	28					0	0	1	0	0
INIP	58493	broad.mit.edu	37	9	115456514	115456514	+	Splice_Site	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr9:115456514C>T	ENST00000374242.4	-	3	331		c.e3-1		INIP_ENST00000374236.1_Splice_Site|INIP_ENST00000374238.1_Splice_Site|INIP_ENST00000374234.1_Splice_Site|INIP_ENST00000497712.2_Splice_Site	NM_021218.1	NP_067041.1			INTS3 and NABP interacting protein																		TTTTGAAAACCTAAAAAAAAG	0.353000													15	18					0	0	1	0	0
GOLPH3L	55204	broad.mit.edu	37	1	150667254	150667254	+	Missense_Mutation	SNP	T	T	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:150667254T>A	ENST00000271732.3	-	2	105	c.61A>T	c.(61-63)Atg>Ttg	p.M21L	GOLPH3L_ENST00000479757.1_5'UTR|GOLPH3L_ENST00000540514.1_Missense_Mutation_p.M21L	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	21						Golgi cisterna membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCACTTTCCATCTTCTTTTCA	0.428000													37	23					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8769136	8769136	+	Missense_Mutation	SNP	A	A	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr20:8769136A>T	ENST00000378641.3	+	28	3627	c.3152A>T	c.(3151-3153)aAc>aTc	p.N1051I	PLCB1_ENST00000338037.6_Missense_Mutation_p.N1051I|PLCB1_ENST00000378637.2_Missense_Mutation_p.N1051I|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1051					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GAGTGTCAGAACAATCAGTTA	0.373000													5	10					0	0	1	0	0
MFAP4	4239	broad.mit.edu	37	17	19289768	19289768	+	Missense_Mutation	SNP	C	C	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr17:19289768C>G	ENST00000395592.2	-	3	238	c.167G>C	c.(166-168)aGg>aCg	p.R56T	MFAP4_ENST00000497081.2_Missense_Mutation_p.R57T|MFAP4_ENST00000299610.4_Missense_Mutation_p.R32T	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	32	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AAGGCAAAACCTCTCCAGAGC	0.607000													11	9					0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7324329	7324329	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:7324329G>A	ENST00000318881.6	+	2	442	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	SYT9_ENST00000396716.2_Missense_Mutation_p.V37M	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	69						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TCTCTTTGGCGTGTCTCTCTT	0.527000													17	83					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117232264	117232264	+	Missense_Mutation	SNP	A	A	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr7:117232264A>T	ENST00000003084.6	+	14	2175	c.2043A>T	c.(2041-2043)gaA>gaT	p.E681D	CFTR_ENST00000454343.1_Missense_Mutation_p.E620D	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	681					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CCTGGACAGAAACAAAAAAAC	0.363000									Cystic Fibrosis				21	18					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332420	70332420	+	Silent	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:70332420G>A	ENST00000338508.4	-	32	3980	c.3981C>T	c.(3979-3981)aaC>aaT	p.N1327N	SHANK2_ENST00000449833.2_Silent_p.N731N|SHANK2_ENST00000423696.2_Silent_p.N947N|SHANK2_ENST00000409161.1_Silent_p.N730N			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	947					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCTGCAGGGCGTTGTCCAGCT	0.572000													12	173					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16812675	16812675	+	Silent	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:16812675C>T	ENST00000355661.3	-	20	2827	c.2817G>A	c.(2815-2817)ccG>ccA	p.P939P	PLEKHA7_ENST00000531066.1_Silent_p.P939P|PLEKHA7_ENST00000448080.2_Silent_p.P940P|PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	939	Pro-rich.				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						TTGGCAGAGGCGGCACAGCCG	0.642000													27	32					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72338772	72338772	+	Missense_Mutation	SNP	G	G	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr4:72338772G>T	ENST00000512686.1	+	11	2052	c.1856G>T	c.(1855-1857)tGt>tTt	p.C619F	SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000264485.5_Intron|SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000514331.1_3'UTR			Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	0						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TCAACATGCTGTCATGGTCCT	0.428000													18	12					1.67942e-08	1.99092e-08	1	1	0
MYH3	4621	broad.mit.edu	37	17	10541586	10541586	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr17:10541586C>T	ENST00000583535.1	-	27	3590	c.3503G>A	c.(3502-3504)cGg>cAg	p.R1168Q	MYH3_ENST00000226209.7_Missense_Mutation_p.R1168Q	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1168					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTCCGCCTCCCGCTTCTTGTT	0.642000													25	49					0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793947	17793947	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:17793947G>A	ENST00000379472.3	+	2	1336	c.1306G>A	c.(1306-1308)Gtg>Atg	p.V436M	KCNC1_ENST00000265969.6_Missense_Mutation_p.V436M	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	436						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						GCCCGTCATCGTGAACAATTT	0.567000													42	95					0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58021632	58021632	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr12:58021632C>T	ENST00000341156.4	-	10	1737	c.1153G>A	c.(1153-1155)Gcg>Acg	p.A385T	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.A330T	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	385					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TCGCGCACCGCGCCCCCCACC	0.716000													5	8					0	0	1	0	0
FOSL1	8061	broad.mit.edu	37	11	65660427	65660427	+	Missense_Mutation	SNP	C	C	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:65660427C>G	ENST00000312562.2	-	4	932	c.746G>C	c.(745-747)cGc>cCc	p.R249P	FOSL1_ENST00000532401.1_3'UTR|FOSL1_ENST00000531493.1_Missense_Mutation_p.R213P|FOSL1_ENST00000448083.2_Missense_Mutation_p.R147P	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	249					cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		GCTACTCTTGCGATGAGCTGA	0.617000													50	32					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67683844	67683844	+	Silent	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr16:67683844G>A	ENST00000334583.6	+	21	2383	c.2055G>A	c.(2053-2055)ccG>ccA	p.P685P	RLTPR_ENST00000545661.1_Silent_p.P649P	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	685										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCAGCCGCCCGGAACTGACAG	0.647000													12	50					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715502	165715502	+	Silent	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:165715502C>T	ENST00000230301.8	-	2	329	c.309G>A	c.(307-309)gcG>gcA	p.A103A	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	103										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCTTCATCCTCGCCACCTTCC	0.682000													50	71					0	0	1	0	0
LSR	51599	broad.mit.edu	37	19	35741544	35741544	+	Missense_Mutation	SNP	A	A	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:35741544A>T	ENST00000602122.1	+	2	1067	c.580A>T	c.(580-582)Agg>Tgg	p.R194W	LSR_ENST00000597933.1_3'UTR|LSR_ENST00000361790.3_Missense_Mutation_p.R194W|LSR_ENST00000427250.1_Missense_Mutation_p.R146W|LSR_ENST00000347609.4_Missense_Mutation_p.R157W|LSR_ENST00000354900.3_Missense_Mutation_p.R194W|LSR_ENST00000360798.3_Missense_Mutation_p.R194W			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	194	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCAGGGCCGGAGGATTACCAT	0.652000													4	29					0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99942202	99942202	+	Missense_Mutation	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:99942202C>A	ENST00000455616.1	-	12	1392	c.1046G>T	c.(1045-1047)gGt>gTt	p.G349V	SYTL4_ENST00000276141.6_Missense_Mutation_p.G349V|SYTL4_ENST00000263033.5_Missense_Mutation_p.G349V|SYTL4_ENST00000454200.2_Missense_Mutation_p.G351V|SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000372989.1_Missense_Mutation_p.G349V			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	349					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCGAAATCACCAGCTTCACT	0.522000													10	58					1.58986e-06	1.79777e-06	1	1	0
CDH9	1007	broad.mit.edu	37	5	26885932	26885932	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr5:26885932C>T	ENST00000231021.4	-	11	1845	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	558	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATTTTGTTGCGACTGTAGCC	0.383000													7	33					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606644	55606644	+	Silent	SNP	C	C	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:55606644C>G	ENST00000378396.1	+	1	417	c.417C>G	c.(415-417)tcC>tcG	p.S139S		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTGCCATCTCCCAGAAACTCT	0.458000													37	50					0	0	1	0	0
CXorf67	340602	broad.mit.edu	37	X	51150457	51150457	+	Missense_Mutation	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:51150457C>A	ENST00000342995.2	+	1	691	c.589C>A	c.(589-591)Cag>Aag	p.Q197K						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						TCAGGCAACCCAGCCAGGCCC	0.632000													6	14					8.12818e-05	8.91674e-05	1	1	0
HDAC9	9734	broad.mit.edu	37	7	18684301	18684301	+	Missense_Mutation	SNP	T	T	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr7:18684301T>A	ENST00000406451.3	+	9	1061	c.911T>A	c.(910-912)gTt>gAt	p.V304D	HDAC9_ENST00000441542.2_Missense_Mutation_p.V307D|HDAC9_ENST00000417496.2_Missense_Mutation_p.V302D|HDAC9_ENST00000432645.2_Missense_Mutation_p.V304D|HDAC9_ENST00000405010.3_Missense_Mutation_p.V304D|HDAC9_ENST00000524023.1_Missense_Mutation_p.V227D|HDAC9_ENST00000428307.2_Missense_Mutation_p.V260D|HDAC9_ENST00000456174.2_Missense_Mutation_p.V276D|HDAC9_ENST00000406072.1_Missense_Mutation_p.V291D|HDAC9_ENST00000401921.1_Missense_Mutation_p.V263D	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	304	Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CAGCAAATGGTTTCACAGCAA	0.378000													17	11					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19349267	19349267	+	Missense_Mutation	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr22:19349267C>A	ENST00000263208.5	-	16	2219	c.1963G>T	c.(1963-1965)Gtg>Ttg	p.V655L	HIRA_ENST00000340170.4_Intron|HIRA_ENST00000546308.1_Missense_Mutation_p.V611L|HIRA_ENST00000541063.1_Missense_Mutation_p.V611L	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	655	Interaction with CCNA1.|Interaction with PAX3 (By similarity).|Interaction with histone H2B.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GACAGAGACACAGGCATGAGA	0.532000													46	81					1.00953e-15	1.25763e-15	1	1	0
TENM1	10178	broad.mit.edu	37	X	123519782	123519782	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:123519782G>A	ENST00000422452.2	-	29	5884	c.5821C>T	c.(5821-5823)Cgg>Tgg	p.R1941W	TENM1_ENST00000371130.3_Missense_Mutation_p.R1934W|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TAGATGTTCCGGTAGTAGCCC	0.507000													25	85					0	0	1	0	0
CXorf67	340602	broad.mit.edu	37	X	51150458	51150458	+	Missense_Mutation	SNP	A	A	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:51150458A>G	ENST00000342995.2	+	1	692	c.590A>G	c.(589-591)cAg>cGg	p.Q197R						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CAGGCAACCCAGCCAGGCCCT	0.632000													6	14					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													3	16					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333577	70333577	+	Missense_Mutation	SNP	C	C	T	rs146332040		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:70333577C>T	ENST00000338508.4	-	32	2823	c.2824G>A	c.(2824-2826)Gtg>Atg	p.V942M	SHANK2_ENST00000449833.2_Missense_Mutation_p.V346M|SHANK2_ENST00000423696.2_Missense_Mutation_p.V562M|SHANK2_ENST00000409161.1_Missense_Mutation_p.V345M			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	562					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ATGGTGGCCACGGTGTCGGAC	0.592000													23	88					0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158669950	158669950	+	Missense_Mutation	SNP	G	G	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:158669950G>T	ENST00000359610.2	-	1	536	c.493C>A	c.(493-495)Ctg>Atg	p.L165M		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L165M(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CAAAATGGCAGTGTAGAGATC	0.488000													19	28					2.35188e-11	2.83382e-11	1	1	0
TNNI3K	51086	broad.mit.edu	37	1	75009657	75009657	+	Missense_Mutation	SNP	C	C	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:75009657C>G	ENST00000370891.2	+	27	2818	c.2802C>G	c.(2800-2802)gaC>gaG	p.D934E	TNNI3K_ENST00000465473.1_3'UTR|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.D934E|TNNI3K_ENST00000326637.3_Missense_Mutation_p.D833E	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						GCTTTGAGGACAGCAGCTGAC	0.448000													4	24					0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66358941	66358941	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:66358941C>T	ENST00000333861.3	-	1	1613	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	516										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCTGCAGGCTCAACTAGGGGC	0.463000													38	141					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390396	197390396	+	Translation_Start_Site	SNP	T	T	A	rs62636264		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:197390396T>A	ENST00000367397.1	+	0	439				CRB1_ENST00000367399.2_Missense_Mutation_p.C368S|CRB1_ENST00000367400.3_Missense_Mutation_p.C480S|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.C480S|CRB1_ENST00000543483.1_Missense_Mutation_p.C179S|CRB1_ENST00000535699.1_Missense_Mutation_p.C411S|CRB1_ENST00000544212.1_De_novo_Start_OutOfFrame			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)						cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CGGGTCCCTGTGTGAAATCGC	0.502000													13	35					0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8752423	8752423	+	Silent	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:8752423C>T	ENST00000534127.1	-	6	799	c.414G>A	c.(412-414)acG>acA	p.T138T	ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000357665.1_Silent_p.T138T|ST5_ENST00000313726.6_Silent_p.T138T	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	138					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CCGGGAATGGCGTGCTCTGGG	0.677000													10	87					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144874944	144874944	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr8:144874944C>T	ENST00000356994.2	-	30	4117	c.4111G>A	c.(4111-4113)Gag>Aag	p.E1371K	SCRIB_ENST00000320476.3_Missense_Mutation_p.E1371K|SCRIB_ENST00000377533.3_Missense_Mutation_p.E1290K|SCRIB_ENST00000546337.1_5'UTR	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1371					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGGGGCCCTCGGCCTGGGGC	0.706000													7	13					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46230632	46230632	+	Missense_Mutation	SNP	G	G	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr12:46230632G>T	ENST00000334344.6	+	8	1053	c.881G>T	c.(880-882)aGa>aTa	p.R294I	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.R145I	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	294					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTGATTTTGAGAAATCTTTCC	0.403000			"""N, S, F"""		hepatocellular carcinoma								24	44					3.7963e-18	4.81083e-18	1	1	0
ATP2A1	487	broad.mit.edu	37	16	28909674	28909674	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr16:28909674C>T	ENST00000395503.4	+	14	1850	c.1666C>T	c.(1666-1668)Cgg>Tgg	p.R556W	ATP2A1_ENST00000357084.3_Missense_Mutation_p.R556W|ATP2A1_ENST00000536376.1_Missense_Mutation_p.R431W	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	556					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GGGCACTGGCCGGGACACCCT	0.637000													20	80					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884074	228884074	+	Missense_Mutation	SNP	G	G	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:228884074G>T	ENST00000392056.3	-	7	1542	c.1496C>A	c.(1495-1497)gCg>gAg	p.A499E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A499E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	499						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACAAGCTAACGCCACTTCTAG	0.527000													9	33					0.00448238	0.00467312	1	1	0
MARCH4	57574	broad.mit.edu	37	2	217142549	217142549	+	Missense_Mutation	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:217142549C>A	ENST00000273067.4	-	3	2477	c.711G>T	c.(709-711)caG>caT	p.Q237H		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	237						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CGGCTGCAACCTGAACCTTCT	0.577000													26	36					4.87955e-14	6.02768e-14	1	1	0
SEC23IP	11196	broad.mit.edu	37	10	121658137	121658137	+	Missense_Mutation	SNP	C	C	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr10:121658137C>G	ENST00000369075.3	+	2	434	c.362C>G	c.(361-363)cCt>cGt	p.P121R	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	121	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ACTGCTCTCCCTTTTACAACT	0.473000													17	61					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91405593	91405593	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:91405593G>A	ENST00000370440.1	-	3	1535	c.1318C>T	c.(1318-1320)Cgc>Tgc	p.R440C	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.R440C			Q9H582	ZN644_HUMAN	zinc finger protein 644	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTAAGATGGCGAAAGTGACTA	0.418000													11	61					0	0	1	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185277930	185277930	+	Splice_Site	SNP	A	A	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:185277930A>G	ENST00000367498.3	-	5	980		c.e5+1		IVNS1ABP_ENST00000367497.1_Splice_Site|IVNS1ABP_ENST00000459929.1_Splice_Site|IVNS1ABP_ENST00000392007.3_Splice_Site	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein						interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CTGATACTCTACCTGCTTTAC	0.303000													8	24					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109673453	109673453	+	Splice_Site	SNP	G	G	C			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr12:109673453G>C	ENST00000338432.7	+	33	4565		c.e33+1		ACACB_ENST00000377848.3_Splice_Site|ACACB_ENST00000543201.1_Splice_Site|ACACB_ENST00000377854.5_Splice_Site			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta						acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AAGAGATGAGGTATGGCCAAA	0.398000													3	11					0	0	1	0	0
MT3	4504	broad.mit.edu	37	16	56623531	56623531	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr16:56623531C>T	ENST00000570176.1	+	1	80	c.29C>T	c.(28-30)tCt>tTt	p.S10F	MT3_ENST00000566576.1_3'UTR|MT3_ENST00000200691.4_Missense_Mutation_p.S10F|MT3_ENST00000565838.1_Intron|MT3_ENST00000561640.1_Missense_Mutation_p.S55F			P25713	MT3_HUMAN	metallothionein 3	10	Beta.				cell proliferation|cellular metal ion homeostasis|removal of superoxide radicals|response to hypoxia	synaptic vesicle	antioxidant activity|copper ion binding|zinc ion binding			central_nervous_system(1)|large_intestine(1)	2						CCCTGCCCTTCTGGTGAGCCC	0.662000													18	59					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11199700	11199700	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:11199700C>T	ENST00000361445.4	-	35	4964	c.4888G>A	c.(4888-4890)Gta>Ata	p.V1630I	MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1630	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CAGTCCTCTACGATACGCTGG	0.507000													31	128					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83848195	83848195	+	Missense_Mutation	SNP	T	T	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:83848195T>G	ENST00000349129.2	+	21	4694	c.4434T>G	c.(4432-4434)gaT>gaG	p.D1478E	DOPEY1_ENST00000237163.5_Missense_Mutation_p.D1459E|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.D1469E	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1478					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTGCACAAGATTTAATAGGCA	0.383000													14	32					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129233302	129233302	+	Missense_Mutation	SNP	G	G	C			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr3:129233302G>C	ENST00000296266.3	+	26	3403	c.3211G>C	c.(3211-3213)Gac>Cac	p.D1071H	IFT122_ENST00000347300.2_Missense_Mutation_p.D961H|IFT122_ENST00000440957.2_Missense_Mutation_p.D811H|IFT122_ENST00000431818.2_Missense_Mutation_p.D870H|IFT122_ENST00000348417.2_Missense_Mutation_p.D1020H|IFT122_ENST00000504021.1_Missense_Mutation_p.D897H|IFT122_ENST00000507564.1_Missense_Mutation_p.D1013H|IFT122_ENST00000349441.2_Missense_Mutation_p.D910H	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	1020					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GCACGCCTATGACAAGCTGCG	0.592000													17	83					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70904981	70904981	+	Missense_Mutation	SNP	G	G	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:70904981G>T	ENST00000264436.3	-	12	1856	c.1412C>A	c.(1411-1413)tCc>tAc	p.S471Y	ADD2_ENST00000355733.3_Missense_Mutation_p.S471Y|ADD2_ENST00000413157.2_Missense_Mutation_p.S471Y|ADD2_ENST00000407644.2_Missense_Mutation_p.S471Y|ADD2_ENST00000430656.1_Missense_Mutation_p.S487Y	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	471					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GCCACTGCTGGATTTCTCCAC	0.547000													15	44					7.93312e-07	9.11069e-07	1	1	0
YEATS2	55689	broad.mit.edu	37	3	183474440	183474440	+	Silent	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr3:183474440G>A	ENST00000305135.5	+	12	1710	c.1515G>A	c.(1513-1515)caG>caA	p.Q505Q		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	505					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGGACAAGCAGCCGGGGCAGG	0.458000													43	50					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584358	82584358	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr7:82584358C>T	ENST00000423517.2	-	5	6248	c.5911G>A	c.(5911-5913)Ggc>Agc	p.G1971S	PCLO_ENST00000333891.8_Missense_Mutation_p.G1971S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1902					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGCAGACTGCCATCTACCGAT	0.363000													10	35					0	0	1	0	0
RPA4	29935	broad.mit.edu	37	X	96139795	96139795	+	Silent	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:96139795C>A	ENST00000373040.3	+	1	889	c.486C>A	c.(484-486)gtC>gtA	p.V162V	DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000355827.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	162					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						TGGAAACGGTCAATGCACACA	0.463000								Other identified genes with known or suspected DNA repair function					17	78					8.60227e-14	1.04507e-13	1	1	0
ATP2C2	9914	broad.mit.edu	37	16	84488474	84488474	+	Silent	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr16:84488474C>T	ENST00000416219.2	+	21	2120	c.2031C>T	c.(2029-2031)aaC>aaT	p.N677N	ATP2C2_ENST00000262429.4_Silent_p.N677N|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	677					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						ATGGGGTGAACGACGCAGTGG	0.607000													5	48					0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612591	20612591	+	Nonsense_Mutation	SNP	A	A	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr14:20612591A>T	ENST00000333629.1	+	1	697	c.697A>T	c.(697-699)Aag>Tag	p.K233*		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CTCTGAAGGAAAGAGCAAGGC	0.502000													48	85					0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88140792	88140792	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:88140792C>T	ENST00000507897.1	+	10	1284	c.1201C>T	c.(1201-1203)Ctt>Ttt	p.L401F	C6ORF165_ENST00000369562.4_Missense_Mutation_p.L401F			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	401										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ACTAGAATGGCTTTTCCCAGA	0.353000													3	22					0	0	1	0	0
CST1	1469	broad.mit.edu	37	20	23731298	23731298	+	Missense_Mutation	SNP	C	C	T	rs3188305		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr20:23731298C>T	ENST00000304749.2	-	1	276	c.206G>A	c.(205-207)cGg>cAg	p.R69Q	CST1_ENST00000398402.1_Missense_Mutation_p.R69Q	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	69						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TCTTAGTACCCGCAGCGGACG	0.572000													26	35					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147863825	147863825	+	Missense_Mutation	SNP	C	C	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr5:147863825C>G	ENST00000360693.3	-	7	1332	c.1194G>C	c.(1192-1194)ttG>ttC	p.L398F	HTR4_ENST00000520514.1_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000377888.3_Intron|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000517929.1_Intron|HTR4_ENST00000362016.2_Intron	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	359					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	atagttaccccaagacaggct	0.408000													4	15					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56078540	56078540	+	Missense_Mutation	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr20:56078540C>A	ENST00000429804.2	-	9	2202	c.1642G>T	c.(1642-1644)Ggt>Tgt	p.G548C	CTCFL_ENST00000433949.2_Missense_Mutation_p.G598C|CTCFL_ENST00000502686.2_Missense_Mutation_p.G336C|CTCFL_ENST00000422109.2_3'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.G598C|CTCFL_ENST00000371196.2_Missense_Mutation_p.G598C|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000423479.2_Missense_Mutation_p.G598C	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	598					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCCTTCTGACCCTTTGTGGCT	0.498000													11	117					1.58986e-06	1.79777e-06	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13862786	13862786	+	Missense_Mutation	SNP	T	T	C			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr5:13862786T>C	ENST00000265104.4	-	29	4771	c.4667A>G	c.(4666-4668)gAc>gGc	p.D1556G	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1556	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTTTTATTGTCCCATTCATT	0.448000									Kartagener syndrome				15	84					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308511	248308511	+	Missense_Mutation	SNP	G	G	C			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:248308511G>C	ENST00000366476.1	+	1	62	c.62G>C	c.(61-63)aGc>aCc	p.S21T		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			TTCAATCACAGCCCCACCCAC	0.473000													96	102					0	0	1	0	0
LPXN	9404	broad.mit.edu	37	11	58318551	58318551	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:58318551G>A	ENST00000528954.1	-	5	607	c.488C>T	c.(487-489)cCg>cTg	p.P163L	LPXN_ENST00000395074.2_Missense_Mutation_p.P158L|LPXN_ENST00000528489.1_Missense_Mutation_p.P138L	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	158	LIM zinc-binding 1.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CCCAGCAATCGGTTTCTGGCA	0.507000													14	28					0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70282397	70282397	+	Silent	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:70282397C>T	ENST00000376561.3	+	19	1959	c.1788C>T	c.(1786-1788)atC>atT	p.I596I	CTTN_ENST00000346329.3_3'UTR|CTTN_ENST00000301843.8_3'UTR	NM_001184740.1	NP_001171669.1	Q14247	SRC8_HUMAN	cortactin	0						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGAAACTCATCTCCTTCCTGA	0.582000													11	138					0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112922739	112922739	+	Missense_Mutation	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:112922739C>A	ENST00000331203.2	+	3	668	c.397C>A	c.(397-399)Cac>Aac	p.H133N	FBLN7_ENST00000472377.1_3'UTR|FBLN7_ENST00000409903.1_Missense_Mutation_p.H133N|FBLN7_ENST00000409450.3_Missense_Mutation_p.H133N|FBLN7_ENST00000409667.3_Missense_Mutation_p.H133N	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	133	Sushi.				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGAGCAGCCCCACTGTAGAGG	0.557000													32	24					2.81731e-10	3.36703e-10	1	1	0
GK	2710	broad.mit.edu	37	X	30739058	30739058	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:30739058G>T	ENST00000378943.3	+	17	1608	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*	GK_ENST00000378945.3_Nonsense_Mutation_p.E477*|GK_ENST00000378946.3_Nonsense_Mutation_p.E483*|RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000427190.1_Nonsense_Mutation_p.E278*|GK-AS1_ENST00000464659.1_RNA	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	483					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						TCTCGAACCCGAGGATTTGTC	0.522000													10	47					0.000442599	0.000481942	1	1	0
IQCH	64799	broad.mit.edu	37	15	67768123	67768123	+	Silent	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr15:67768123C>A	ENST00000335894.4	+	18	2832	c.2766C>A	c.(2764-2766)atC>atA	p.I922I	IQCH_ENST00000358767.3_Silent_p.I658I|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Silent_p.I579I|IQCH_ENST00000360277.4_Silent_p.I583I	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	922										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTCTCCAGATCTGTAGGGCCC	0.502000													9	42					1.76689e-08	2.06138e-08	1	1	0
ABCF1	23	broad.mit.edu	37	6	30550906	30550906	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:30550906G>A	ENST00000326195.8	+	10	968	c.856G>A	c.(856-858)Gtg>Atg	p.V286M	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.V248M	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	286					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TGACTTCTCCGTGTCCCAGGC	0.498000													33	50					0	0	1	0	0
TRIB1	10221	broad.mit.edu	37	8	126448672	126448672	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr8:126448672G>A	ENST00000311922.3	+	3	1660	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	TRIB1_ENST00000520847.1_Missense_Mutation_p.E194K|TRIB1_ENST00000519576.1_Missense_Mutation_p.E129K	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	tribbles pseudokinase 1	360			E -> A (in dbSNP:rs35454769).|E -> D (in dbSNP:rs16900603).		JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			GATTGTTCCAGAGTACCAGGA	0.468000													9	110					0	0	1	0	0
AC005609.1	0	broad.mit.edu	37	5	140242764	140242764	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr5:140242764G>A	ENST00000502505.1	-	1	460	c.212C>T	c.(211-213)aCg>aTg	p.T71M	PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron																							GACTGCCACCGTCACCGTGGT	0.682000													25	26					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238492	48238492	+	Missense_Mutation	SNP	T	T	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:48238492T>A	ENST00000309562.2	+	1	149	c.131T>A	c.(130-132)gTt>gAt	p.V44D		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGCCTCATCGTTCTGACGGTC	0.517000													19	107					0	0	1	0	0
HPCAL1	3241	broad.mit.edu	37	2	10560021	10560021	+	Silent	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:10560021C>T	ENST00000381765.3	+	4	664	c.138C>T	c.(136-138)gaC>gaT	p.D46D	HPCAL1_ENST00000307845.3_Silent_p.D46D	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	46	EF-hand 1.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		TGACCGTGGACGAGTTCAAGA	0.617000													29	36					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32481007	32481007	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr22:32481007C>T	ENST00000266088.4	+	9	1256	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	SLC5A1_ENST00000543737.1_Missense_Mutation_p.R209C	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	336					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						AATGATCAGCCGCATTCTGTA	0.483000													17	89					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887354	3887354	+	Missense_Mutation	SNP	G	G	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr3:3887354G>T	ENST00000319331.3	+	2	1790	c.1029G>T	c.(1027-1029)atG>atT	p.M343I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	343						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AAAGCTTGATGCTGAACAACA	0.483000													9	30					1.76689e-08	2.06138e-08	1	1	0
TFAP2B	7021	broad.mit.edu	37	6	50810826	50810826	+	Silent	SNP	G	G	A	rs151001753	byFrequency	TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:50810826G>A	ENST00000263046.4	+	8	1297	c.1131G>A	c.(1129-1131)acG>acA	p.T377T	TFAP2B_ENST00000393655.3_Silent_p.T368T			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	368				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AAGAATTTACGGATCTACTGG	0.557000													70	92					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79279642	79279642	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:79279642C>T	ENST00000442340.1	+	4	567	c.77C>T	c.(76-78)cCg>cTg	p.P26L	TBX22_ENST00000373294.5_Missense_Mutation_p.P146L|TBX22_ENST00000373296.3_Missense_Mutation_p.P146L|TBX22_ENST00000373291.1_Missense_Mutation_p.P26L	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	146					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GATGTGGTGCCGGTGGATTCC	0.527000													11	64					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr17:7578265A>G	ENST00000420246.2	-	6	716	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000269305.4_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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)		TTCCACTCGGATAAGATGCTG	0.552000		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	32					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215880300	215880300	+	Silent	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:215880300G>A	ENST00000272895.7	-	15	2089	c.1870C>T	c.(1870-1872)Ctg>Ttg	p.L624L	ABCA12_ENST00000389661.4_Silent_p.L306L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	624					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)		GAAAGAGACAGGTTGCAGAAT	0.433000													5	16					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67673621	67673621	+	Missense_Mutation	SNP	T	T	C			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr18:67673621T>C	ENST00000255674.6	-	47	6807	c.6521A>G	c.(6520-6522)cAg>cGg	p.Q2174R	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2174							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACTGACCTTCTGATAATTGTA	0.408000													10	27					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117266866	117266866	+	Silent	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr9:117266866G>A	ENST00000362057.3	-	1	384	c.216C>T	c.(214-216)ttC>ttT	p.F72F	DFNB31_ENST00000374057.3_Silent_p.F72F	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	72					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCACCAGGTCGAAGACGTTGC	0.687000													24	12					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114438918	114438918	+	Missense_Mutation	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:114438918C>A	ENST00000369569.1	-	8	1752	c.1472G>T	c.(1471-1473)tGc>tTc	p.C491F	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.C491F|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000369567.1_Missense_Mutation_p.C323F	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	491					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-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)		CATGTCCTGGCACTCAGCAGG	0.438000													20	45					1.64113e-05	1.81389e-05	1	1	0
WBP11P1	441818	broad.mit.edu	37	18	30092789	30092789	+	RNA	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr18:30092789C>T	ENST00000567636.1	+	0	1164					NR_003558.1																						CTTCAAGCCACGATGCTTCGT	0.428000													8	40					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36211157	36211157	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:36211157G>A	ENST00000251195.5	-	16	2957	c.2861C>T	c.(2860-2862)tCc>tTc	p.S954F	CLSPN_ENST00000318121.3_Missense_Mutation_p.S954F|CLSPN_ENST00000373220.3_Missense_Mutation_p.S890F|CLSPN_ENST00000520551.1_Missense_Mutation_p.S901F			Q9HAW4	CLSPN_HUMAN	claspin	954					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGCTGGAGTGGAGGCATCTAC	0.453000													11	17					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95034592	95034592	+	Silent	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr14:95034592C>T	ENST00000557004.1	+	4	1471	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G	SERPINA4_ENST00000555095.1_Silent_p.G350G|SERPINA4_ENST00000298841.5_Silent_p.G350G|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	350					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ACTTATCCGGCATCACCAAAC	0.512000													14	54					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824664	74824664	+	Missense_Mutation	SNP	C	C	T	rs138416499	byFrequency	TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr14:74824664C>T	ENST00000256362.4	+	2	1419	c.1178C>T	c.(1177-1179)gCg>gTg	p.A393V		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	393					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TCCGCACTGGCGGTGTCAAGC	0.617000													9	81					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50208484	50208484	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:50208484G>A	ENST00000392518.4	+	10	1265	c.893G>A	c.(892-894)gGa>gAa	p.G298E	CPT1C_ENST00000405931.2_Missense_Mutation_p.G287E|CPT1C_ENST00000354199.5_Missense_Mutation_p.G298E|CPT1C_ENST00000323446.5_Missense_Mutation_p.G298E|CPT1C_ENST00000598293.1_Missense_Mutation_p.G298E	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	298					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		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;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TTGCTGATGGGAATGCGCCCC	0.587000													33	88					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770591	31770591	+	Silent	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:31770591C>T	ENST00000240587.4	-	2	435	c.108G>A	c.(106-108)acG>acA	p.T36T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	36					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTCCATCTGCCGTATGCTCCT	0.597000													21	18					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46009275	46009275	+	Silent	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr3:46009275G>A	ENST00000296137.2	-	8	1756	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	FYCO1_ENST00000535325.1_Silent_p.F517F	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	517					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GGGTCTCCAGGAACTGCAGCT	0.582000													33	100					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81927367	81927367	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr16:81927367G>A	ENST00000359376.3	+	12	1254	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	347	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCTTACATCCGCTGCCTGCGC	0.587000													10	70					0	0	1	0	0
RPA4	29935	broad.mit.edu	37	X	96139780	96139780	+	Missense_Mutation	SNP	T	T	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:96139780T>A	ENST00000373040.3	+	1	874	c.471T>A	c.(469-471)caT>caA	p.H157Q	DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000355827.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	157					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						TCACCGTGCATATTCTGGAAA	0.453000								Other identified genes with known or suspected DNA repair function					18	79					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63948379	63948379	+	Missense_Mutation	SNP	T	T	C			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr15:63948379T>C	ENST00000443617.2	-	49	9865	c.9778A>G	c.(9778-9780)Atc>Gtc	p.I3260V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3260					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						AGGCAAGAGATAGGCTTGTTA	0.542000													4	9					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164619	139164619	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr8:139164619G>A	ENST00000395297.1	-	13	2269	c.2099C>T	c.(2098-2100)gCc>gTc	p.A700V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	700										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCTGCTTCGGGCCTCTGACCA	0.557000										HNSCC(54;0.14)			46	41					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79760681	79760681	+	Silent	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr15:79760681C>T	ENST00000305428.3	+	4	2781	c.2706C>T	c.(2704-2706)acC>acT	p.T902T		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	902						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CGGCATGCACCGTCATCCTCG	0.463000													13	22					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16205396	16205396	+	Silent	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr16:16205396G>A	ENST00000399408.2	+	23	3241	c.3066G>A	c.(3064-3066)acG>acA	p.T1022T	ABCC1_ENST00000349029.5_Silent_p.T897T|ABCC1_ENST00000351154.5_Silent_p.T953T|ABCC1_ENST00000345148.5_Silent_p.T1012T|ABCC1_ENST00000346370.5_Silent_p.T956T|ABCC1_ENST00000399410.3_Silent_p.T1012T			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1012	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AGGAGCACACGAAAGTCCGGC	0.567000													24	39					0	0	1	0	0
OSTCP1	202459	broad.mit.edu	37	6	159262735	159262735	+	RNA	SNP	G	G	A	rs73013670	by1000genomes	TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:159262735G>A	ENST00000522287.1	-	0	608					NR_028496.1																						CCATCAGATAGCCCTTCTCAA	0.418000													5	63					0	0	1	0	0
PGAM1	5223	broad.mit.edu	37	10	99192246	99192246	+	Missense_Mutation	SNP	G	G	C			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr10:99192246G>C	ENST00000334828.5	+	4	878	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q	PGAM1_ENST00000467867.1_3'UTR	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	244					gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		CAAAGCCATGGAAGCTGTGGC	0.587000													13	32					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404665	20404665	+	Silent	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr14:20404665C>A	ENST00000285600.4	+	1	899	c.840C>A	c.(838-840)ccC>ccA	p.P280P		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P280P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTTGTACTCCCTTGTTGAACC	0.413000													5	71					0.000602214	0.000641489	1	1	0
PEX6	5190	broad.mit.edu	37	6	42932843	42932843	+	Missense_Mutation	SNP	T	T	C			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:42932843T>C	ENST00000304611.8	-	15	2705	c.2636A>G	c.(2635-2637)cAg>cGg	p.Q879R	PEX6_ENST00000244546.4_3'UTR	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	879					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			AACGCGTAGCTGGGAGGCCCG	0.542000													31	49					0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37891791	37891791	+	Missense_Mutation	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr22:37891791C>A	ENST00000403299.1	-	15	2495	c.2279G>T	c.(2278-2280)cGg>cTg	p.R760L	CARD10_ENST00000406271.3_Missense_Mutation_p.R474L|CARD10_ENST00000251973.5_Missense_Mutation_p.R760L			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	760					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CACGGTGCCCCGGTCCAGGTC	0.642000													16	23					8.60227e-14	1.04507e-13	1	1	0
GRM5	2915	broad.mit.edu	37	11	88338041	88338041	+	Silent	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:88338041G>A	ENST00000418177.2	-	5	1606	c.1239C>T	c.(1237-1239)aaC>aaT	p.N413N	GRM5_ENST00000455756.2_Silent_p.N413N|GRM5_ENST00000305432.5_Silent_p.N413N|GRM5_ENST00000305447.4_Silent_p.N413N|GRM5_ENST00000393297.1_Silent_p.N413N			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	413					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ACATCTGCATGTTGTGGAGCC	0.463000													14	36					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147582653	147582653	+	Missense_Mutation	SNP	G	G	C			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:147582653G>C	ENST00000370460.2	+	1	515	c.36G>C	c.(34-36)ttG>ttC	p.L12F	AFF2_ENST00000342251.3_Missense_Mutation_p.L12F|AFF2_ENST00000370457.5_Missense_Mutation_p.L12F|AFF2_ENST00000370458.1_Missense_Mutation_p.L12F	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	12					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)					ACTGGGACTTGGAGCAGCAGT	0.592000													6	41					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2086964	2086964	+	Missense_Mutation	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr9:2086964C>A	ENST00000382203.1	+	18	2871	c.2662C>A	c.(2662-2664)Ctc>Atc	p.L888I	SMARCA2_ENST00000382194.1_Missense_Mutation_p.L888I|SMARCA2_ENST00000357248.2_Missense_Mutation_p.L888I|SMARCA2_ENST00000349721.2_Missense_Mutation_p.L888I			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	888	Helicase ATP-binding.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GCAGAATAAGCTCCCTGAACT	0.507000													44	15					5.44703e-19	6.96272e-19	1	1	0
THBS4	7060	broad.mit.edu	37	5	79372723	79372723	+	Silent	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr5:79372723C>T	ENST00000350881.2	+	16	2128	c.1938C>T	c.(1936-1938)gtC>gtT	p.V646V	CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Silent_p.V555V|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	646			V -> I (in dbSNP:rs2229396).		endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GCCCCACCGTCATTAACAGTG	0.542000													42	91					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49631231	49631231	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:49631231C>T	ENST00000334186.4	+	2	450	c.101C>T	c.(100-102)aCg>aTg	p.T34M	PPFIA3_ENST00000602351.1_Missense_Mutation_p.T34M	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	34						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CTCATGGTCACGATGCTCACG	0.716000													11	14					0	0	1	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773625	35773625	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:35773625G>A	ENST00000360215.1	+	1	555	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	LHFPL5_ENST00000373853.1_Missense_Mutation_p.G60S	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	60						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						ACCGCAGGCAGGCTACTTCGG	0.602000													83	168					0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12030858	12030858	+	Silent	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:12030858C>T	ENST00000196061.4	+	17	1914	c.1887C>T	c.(1885-1887)ccC>ccT	p.P629P	PLOD1_ENST00000376369.3_Silent_p.P676P	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	629					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGCTCTACCCCGGCTACTACA	0.602000													23	23					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158224994	158224994	+	Missense_Mutation	SNP	A	A	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:158224994A>G	ENST00000289429.5	+	2	712	c.179A>G	c.(178-180)aAt>aGt	p.N60S		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	60					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGGGACAGCAATTCCAGCACC	0.488000													10	43					0	0	1	0	0
AGK	55750	broad.mit.edu	37	7	141351366	141351366	+	Missense_Mutation	SNP	C	C	T	rs142069429	byFrequency	TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr7:141351366C>T	ENST00000355413.4	+	15	1348	c.1088C>T	c.(1087-1089)aCg>aTg	p.T363M	AGK_ENST00000535825.1_3'UTR|AGK_ENST00000473247.1_Missense_Mutation_p.T335M	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	363					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GTGGAGGGCACGGAGTGTCTC	0.547000													6	39					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55638975	55638975	+	Missense_Mutation	SNP	A	A	C			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:55638975A>C	ENST00000370830.3	-	4	1597	c.899T>G	c.(898-900)tTc>tGc	p.F300C	BMP5_ENST00000446683.2_Missense_Mutation_p.F300C	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	300					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GGCCACCATGAATGGTTGTTT	0.443000													38	48					0	0	1	0	0
CXorf67	340602	broad.mit.edu	37	X	51150073	51150073	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:51150073G>A	ENST00000342995.2	+	1	307	c.205G>A	c.(205-207)Gct>Act	p.A69T						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CGGTTCTTCCGCTGCAGCCGC	0.637000													28	14					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56552435	56552435	+	Silent	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:56552435C>A	ENST00000390649.3	+	11	2934	c.2934C>A	c.(2932-2934)ccC>ccA	p.P978P		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	978						mitochondrion|nucleolus	ATP binding	p.P978P(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGAGGCTTCCCCACTGTAGTC	0.532000													25	99					0.00047179	0.000509949	1	1	0
UNC93A	54346	broad.mit.edu	37	6	167708120	167708120	+	Missense_Mutation	SNP	A	A	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:167708120A>G	ENST00000230256.3	+	2	378	c.203A>G	c.(202-204)aAg>aGg	p.K68R	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.K68R	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	68						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTGGGCTGCAAGGGGACCATC	0.647000													78	151					0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85525494	85525494	+	Silent	SNP	C	C	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr4:85525494C>A	ENST00000295887.5	+	2	639	c.216C>A	c.(214-216)ctC>ctA	p.L72L		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	72					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CTGAGATTCTCAAAAAAGCTC	0.378000													5	20					0.014758	0.0152776	1	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90162475	90162475	+	RNA	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr16:90162475G>A	ENST00000564451.1	+	0	1828				TUBB8P7_ENST00000567960.1_RNA																							CGAGGGCATGGATGAGATGGA	0.522000													42	86					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134153311	134153311	+	Silent	SNP	G	G	A	rs146021738	byFrequency	TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr5:134153311G>A	ENST00000452510.2	+	20	2897	c.2739G>A	c.(2737-2739)ccG>ccA	p.P913P	DDX46_ENST00000354283.4_Silent_p.P912P	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	912					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTATGTGCCGTTAGAGAAAC	0.413000													4	28					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77661767	77661767	+	Splice_Site	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr13:77661767G>A	ENST00000407578.2	-	62	10993	c.10725_splice	c.e62-1	p.A3576_splice	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2_ENST00000357337.6_Splice_Site_p.A3538_splice|MYCBP2_ENST00000544440.2_Splice_Site_p.A3538_splice|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000422231.2_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCAGTTGAAAGCCTGAAGAAA	0.388000													5	19					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160225638	160225638	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr6:160225638G>A	ENST00000275275.5	+	6	568	c.397G>A	c.(397-399)Gat>Aat	p.D133N	PNLDC1_ENST00000392167.3_Missense_Mutation_p.D144N	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	133						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AATTAGACACGATATCCTGAC	0.443000													4	31					0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74777456	74777456	+	Silent	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:74777456G>A	ENST00000264094.3	-	3	404	c.333C>T	c.(331-333)aaC>aaT	p.N111N	LOXL3_ENST00000484369.1_5'UTR|LOXL3_ENST00000409986.1_Silent_p.N111N|LOXL3_ENST00000409249.1_Silent_p.N111N|LOXL3_ENST00000393937.2_Silent_p.N111N|DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000409549.1_Silent_p.N111N	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	111	SRCR 1.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TGCAGCTCAAGTTGTCCAGCC	0.592000													20	59					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64597180	64597180	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:64597180C>T	ENST00000342711.5	-	30	3729	c.3730G>A	c.(3730-3732)Ggt>Agt	p.G1244S		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1244	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GCAAAGCCACCGGCGGCGCCC	0.731000													9	17					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151393236	151393236	+	Splice_Site	SNP	G	G	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chrX:151393236G>T	ENST00000370314.4	-	6	871	c.634_splice	c.e6+1	p.S211_splice	GABRA3_ENST00000370311.1_Splice_Site_p.S211_splice|GABRA3_ENST00000535043.1_Splice_Site_p.S211_splice	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	211					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			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AATACATACAGCTTCCAAACT	0.383000													6	47					0.0215528	0.0221556	1	1	0
CCDC85A	114800	broad.mit.edu	37	2	56602951	56602951	+	Splice_Site	SNP	G	G	T			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr2:56602951G>T	ENST00000407595.2	+	5	1955	c.1452_splice	c.e5-1	p.G485_splice	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	485										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTCTACTAAGGGTTCTTTTAG	0.403000													17	7					0.000566183	0.00060751	1	1	0
ATF6	22926	broad.mit.edu	37	1	161928383	161928383	+	Missense_Mutation	SNP	C	C	G			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:161928383C>G	ENST00000367942.3	+	16	2019	c.1952C>G	c.(1951-1953)tCc>tGc	p.S651C		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	651					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TTCTTTGGCTCCCCTCCCGCA	0.532000													24	79					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	79082343	79082343	+	Silent	SNP	G	G	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr7:79082343G>A	ENST00000354212.4	-	1	547	c.294C>T	c.(292-294)gtC>gtT	p.V98V	MAGI2_ENST00000419488.1_Silent_p.V98V|MAGI2_ENST00000522391.1_Silent_p.V98V|MAGI2-AS3_ENST00000429408.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	98	PDZ 1.					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)				CACCTTGCTTGACACACTTGA	0.647000													20	57					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77377983	77377983	+	Silent	SNP	G	G	C			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr11:77377983G>C	ENST00000308488.6	-	16	4607	c.4305C>G	c.(4303-4305)gtC>gtG	p.V1435V	RSF1_ENST00000360355.2_Silent_p.V1404V|RSF1_ENST00000480887.1_Silent_p.V1183V			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1435					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CACTGTTACAGACATAATCAA	0.443000													27	106					0	0	1	0	0
SCNN1D	6339	broad.mit.edu	37	1	1219451	1219451	+	Frame_Shift_Del	DEL	G	G	-			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:1219451delG	ENST00000338555.2	+	3	1191	c.47delG	c.(46-48)cgfs	p.R16fs	SCNN1D_ENST00000325425.8_Frame_Shift_Del_p.G52fs|SCNN1D_ENST00000467651.2_3'UTR|SCNN1D_ENST00000379116.5_Frame_Shift_Del_p.G150fs|SCNN1D_ENST00000400928.3_Frame_Shift_Del_p.R16fs					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCAGCCACACGGGGGGGCTCT	0.687													2	4	---	---	---	---					
PCSK9	255738	broad.mit.edu	37	1	55505553	55505555	+	In_Frame_Del	DEL	CTG	CTG	-	rs67610340		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr1:55505553_55505555delCTG	ENST00000302118.5	+	1	333_335	c.43_45delCTG	c.(43-45)del	p.L23del	PCSK9_ENST00000452118.2_In_Frame_Del_p.L23del	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	23			L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia).		cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						gccgctgccactgctgctgctgc	0.709													3	6	---	---	---	---					
ADAM29	11086	broad.mit.edu	37	4	175898692	175898693	+	Frame_Shift_Ins	INS	-	-	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr4:175898692_175898693insA	ENST00000359240.3	+	5	2686_2687	c.2016_2017insA	c.(2014-2019)aaaaaafs	p.KK672fs	ADAM29_ENST00000404450.4_Frame_Shift_Ins_p.KK672fs|ADAM29_ENST00000514159.1_Frame_Shift_Ins_p.KK672fs|ADAM29_ENST00000445694.1_Frame_Shift_Ins_p.KK672fs	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	672	Poly-Lys.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.K672N(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGAGAAAGAAGAAAAAGAAGTT	0.356													20	9	---	---	---	---					
LFNG	3955	broad.mit.edu	37	7	2558231	2558235	+	Splice_Site	DEL	AGGTA	AGGTA	-			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr7:2558231_2558235delAGGTA	ENST00000402045.1	+	2	132_133	c.45_splice	c.e2+1	p.15_splice	LFNG_ENST00000402506.1_Intron|LFNG_ENST00000338732.3_Splice_Site_p.15_splice	NM_002304.2	NP_002295.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	0					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		attcaggtagaggtaaggagaGGGG	0.512													11	42	---	---	---	---					
PHF2	5253	broad.mit.edu	37	9	96439004	96439005	+	In_Frame_Ins	INS	-	-	CCTGCCTCCACCACA	rs75653373	by1000genomes	TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr9:96439004_96439005insCCTGCCTCCACCACA	ENST00000359246.4	+	21	3328_3329	c.2961_2962insCCTGCCTCCACCACA	c.(2959-2964)accggc>acCCTGCCTCCACCACAcggc	p.987_988TG>TLPPPHG	PHF2_ENST00000375376.4_In_Frame_Ins_p.218_219TG>TLPPPHG	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	987	Ser/Thr-rich.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.T987_P988insPASTT(1)|p.T987T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		cctctaccaccccggcctccac	0.688													9	-1	---	---	---	---					
ZNF32-AS3	414201	broad.mit.edu	37	10	44126381	44126381	+	RNA	DEL	A	A	-			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr10:44126381delA	ENST00000458063.1	+	0	162				RP11-402L1.4_ENST00000431956.1_lincRNA	NR_038867.1																						ACCGTCTTCCAGTAATTCGAC	0.368													2	4	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102306788	102306790	+	RNA	DEL	GTA	GTA	-			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr15:102306788_102306790delGTA	ENST00000561463.1	+	0	13180																											TTAGTCTGTTGTAGTGGTGAGCT	0.507													2	4	---	---	---	---					
LA16c-306E5.3	0	broad.mit.edu	37	16	3546140	3546141	+	RNA	INS	-	-	A	rs74546027		TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr16:3546140_3546141insA	ENST00000574423.2	+	0	111																											gactccgtctcaaaaaaaaaaa	0.559													4	6	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579379	7579380	+	Frame_Shift_Ins	INS	-	-	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr17:7579379_7579380insA	ENST00000420246.2	-	4	439_440	c.307_308insT	c.(307-309)ccafs	p.P103fs	TP53_ENST00000269305.4_Frame_Shift_Ins_p.P103fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P103fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P103fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P103fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P103fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	103	Interaction with HIPK1 (By similarity).|Interaction with WWOX.				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.0?(8)|p.Y103fs*19(3)|p.K101_Y103>N(3)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)		GCTGCCCTGGTAGGTTTTCTGG	0.634		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)			42	69	---	---	---	---					
HDGFRP2	84717	broad.mit.edu	37	19	4493799	4493801	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:4493799_4493801delTCC	ENST00000301284.4	+	7	842_844	c.778_780delTCC	c.(778-780)del	p.S264del	HDGFRP2_ENST00000586684.1_In_Frame_Del_p.S264del	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		264	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										ctcctcctcttcctcctcctcct	0.675													2	4	---	---	---	---					
ZNF730	100129543	broad.mit.edu	37	19	23329275	23329276	+	Frame_Shift_Ins	INS	-	-	A			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:23329275_23329276insA	ENST00000597761.2	+	4	1628_1629	c.1429_1430insA	c.(1429-1431)aaafs	p.K477fs		NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TCATTCTGGGGAAAAAATCTAC	0.376													7	6	---	---	---	---					
CAPN12	147968	broad.mit.edu	37	19	39233740	39233742	+	Splice_Site	DEL	CTC	CTC	-			TCGA-C9-A47Z-01A-11D-A24D-08	TCGA-C9-A47Z-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51c452e8-d32a-44b7-b5f2-a1f15dffac08	99a11d0a-5661-4e27-8e28-9319dd418b47	g.chr19:39233740_39233742delCTC	ENST00000328867.4	-	2	546_548	c.237_splice	c.e2-1	p.E80_splice	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	80	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CAGCACAGAACTCCTGTGGGTGG	0.591													11	37	---	---	---	---